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Gene: Esr1 MGI:1352467

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

estrogen receptor 1 (alpha)

Synonyms:

ER[a], Nr3a1, ER-alpha, Estra, ERalpha, Estr, ESR, ERa

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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 Esr1 mutations

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

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

Human diseases associated with Esr1 (4 diseases)
Human diseases predicted to be associated with Esr1 (2586 diseases)

The table below shows human diseases associated to Esr1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Estrogen Resistance	Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Increased circul...	OMIM:615363
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Tall stature, Hyperinsulinemia, Absence of pubertal dev...	ORPHA:785
Breast Cancer		OMIM:114480
Migraine With Or Without Aura, Susceptibility To, 1		OMIM:157300

The table below shows human diseases predicted to be associated to Esr1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Spermatogenic Failure 8	Cryptozoospermia, Azoospermia, Oligozoospermia	OMIM:613957
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Ovarian Dysgenesis 6	Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar...	OMIM:618078
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea...	OMIM:619177
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Premature Ovarian Failure 3	Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea	OMIM:608996
Testicular Microlithiasis	Testicular microlithiasis	OMIM:610441
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Premature Ovarian Failure 14	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f...	OMIM:618014
Ovarian Dysgenesis 7	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f...	OMIM:618117
Premature Ovarian Failure 17	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ...	OMIM:619146
Premature Ovarian Failure 7	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate...	OMIM:612964
Ovarian Dysgenesis 9	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar...	OMIM:619665
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Ovarian Dysgenesis 2	Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of...	OMIM:300510
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Leydig Cell Hypoplasia, Type I	Increased circulating gonadotropin level, Hypergonadotropic hypogonadism	OMIM:238320
Premature Ovarian Failure 18	Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ...	OMIM:619203
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Autism, Susceptibility To, 20	Reduced social reciprocity	OMIM:618830
Spermatogenic Failure 32	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Endometriosis, Susceptibility To, 1	Dysmenorrhea, Decreased fertility, Endometriosis	OMIM:131200
Premature Ovarian Failure 6	Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul...	OMIM:612310
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries	ORPHA:393
Ovarian Dysgenesis 5	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f...	OMIM:617690
Premature Ovarian Failure 13	Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen...	OMIM:617442
Premature Ovarian Failure 2A	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone...	OMIM:300511
Perrault Syndrome 6	Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl...	OMIM:617565
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I	ORPHA:488191
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Sparse body hair, Decreased fertility, Cryptorchi...	ORPHA:90796
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia	ORPHA:397685
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
Precocious Puberty, Central, 1	Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele...	OMIM:176400
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
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Tall stature, Increased serum estradiol, Absent a...	ORPHA:99429
Oocyte/Zygote/Embryo Maturation Arrest 14	Female infertility, Oocyte maturation arrest	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Ovarian Dysgenesis 10	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas...	OMIM:619834
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Premature Ovarian Failure 20	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone...	OMIM:619938
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co...	OMIM:273250
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test...	OMIM:614841
Premature Ovarian Failure 8	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated...	OMIM:615723
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ...	ORPHA:1879
Avascular Necrosis Of Femoral Head, Primary, 1	Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis	OMIM:608805
Perrault Syndrome 3	Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu...	OMIM:614129
Spermatogenic Failure, X-Linked, 4	Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Eleva...	OMIM:301077
Oocyte/Zygote/Embryo Maturation Arrest 9	Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Premature Ovarian Failure 9	Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir...	OMIM:615724
Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Sparse pubic hair, Inguinal hernia, Sparse axilla...	OMIM:300068
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn...	ORPHA:168563
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate...	OMIM:614324
Osteochondrosis Of The Metatarsal Bone	Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Structural fo...	ORPHA:564003
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi...	OMIM:612885
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o...	OMIM:618086
Perrault Syndrome 4	Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ...	OMIM:615300
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Müllerian Aplasia And Hyperandrogenism	High anterior hairline, Frontal balding, Abnormal vagina morphology, Abnormality of the ovary, Fa...	ORPHA:247768
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona...	OMIM:614837
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Premature Ovarian Failure 22	Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in...	OMIM:620548
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo...	OMIM:614842
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Non-obstructive azo...	OMIM:278850
Premature Ovarian Failure 19	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	OMIM:619245
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
Ovarian Dysgenesis 8	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Hyp...	OMIM:618187
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Estrogen Resistance	Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Increased circul...	OMIM:615363
Functioning Gonadotropic Adenoma	Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f...	ORPHA:91348
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density, Pedal edema	ORPHA:75325
46,Xy Sex Reversal 3	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo...	OMIM:612965
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn...	ORPHA:1802
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Buschke-Ollendorff Syndrome	Lower limb asymmetry, Joint stiffness, Osteopoikilosis, Flexion contracture	OMIM:166700
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Hirsutism, Ambiguous gen...	ORPHA:206484
Polycystic Ovary Syndrome 1	Obesity, Hirsutism, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea	OMIM:184700
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ...	ORPHA:90797
Spermatogenic Failure 77	Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor...	OMIM:620103
Premature Ovarian Failure 21	Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll...	OMIM:620311
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u...	ORPHA:3416
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Tapered sperm head, Abnormal sperm he...	OMIM:618433
Spermatogenic Failure, X-Linked, 1	Sertoli cell-only phenotype, Obesity	OMIM:305700
Multiple Symmetric Lipomatosis	Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology	ORPHA:2398
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616911
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a...	ORPHA:3109
Deleted in azoospermia	Azoospermia	OMIM:400003
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Prader-Willi syndrome (Type 1)	Hypogonadism, Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Hypogonadism, Truncal obesity	DECIPHER:53
Premature Ovarian Failure 16	Reduced antral follicle count, Decreased serum estradiol, Elevated circulating follicle stimulati...	OMIM:618723
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis, Metaphyseal dysplasia, Dense metaphyseal bands	OMIM:615198
Hepatic Adenomas, Familial	Polycystic ovaries	OMIM:142330
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG	OMIM:613495
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Tall stature, Hyperinsulinemia, Absence of pubertal dev...	ORPHA:785
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Hypogonadism-Cataract Syndrome	Hypogonadism, Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone l...	OMIM:240950
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le...	OMIM:228300
Ovarian Fibrothecoma	Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Hirsutism, Abnormal endometrium mo...	ORPHA:314478
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Reduced subcutaneous adipose tissue, Polycystic ovaries, Loss of gluteal subcut...	ORPHA:280356
46,Xy Sex Reversal 1	Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona...	OMIM:400044
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
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Aplasi...	OMIM:277000
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
X-Linked Intellectual Disability, Van Esch Type	Coronal craniosynostosis, Male hypogonadism, Failure to thrive, Absence of secondary sex characte...	ORPHA:163976
Kennedy Disease	Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction	ORPHA:481
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Pituitary Adenoma 2, Growth Hormone-Secreting	Pituitary adenoma, Elevated circulating growth hormone concentration	OMIM:300943
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De...	OMIM:202010
Premature Ovarian Failure 15	Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ...	OMIM:618096
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries	ORPHA:1643
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal...	ORPHA:90791
49,Xyyyy Syndrome	Short 5th finger, Male hypogonadism, Abnormality of the testis size, Lower limb asymmetry, Finger...	ORPHA:99330
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper...	OMIM:229070
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility	ORPHA:98797
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Chromosome Xq27.3-Q28 Duplication Syndrome	Small hand, Sparse body hair, Decreased serum testosterone concentration, Hypogonadism, Decreased...	OMIM:300869
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Normosmic Congenital Hypogonadotropic Hypogonadism	Sparse body hair, Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, I...	ORPHA:432
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration	OMIM:615555
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Osteopetrosis, Autosomal Recessive 6	Cortical sclerosis of the iliac wing, Erlenmeyer flask deformity of the femurs, Osteopetrosis, De...	OMIM:611497
Gnathodiaphyseal Dysplasia	Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, R...	ORPHA:53697
X-Linked Intellectual Disability, Cilliers Type	Coronal craniosynostosis, Male hypogonadism, Small hand, Failure to thrive, Absence of secondary ...	ORPHA:163971
Bardet-Biedl Syndrome 11	Hypogonadism, Obesity	OMIM:615988
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Bulging...	OMIM:600785
Sclerosteosis	Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti...	ORPHA:3152
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral...	OMIM:166740
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615842
49,Xxxyy Syndrome	Male hypogonadism, Abnormality of the testis size, Finger clinodactyly, Abnormal plantar dermatog...	ORPHA:261534
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Mueller-Weiss Syndrome	Tibiofibular diastasis, Equinovarus deformity, Sclerosis of foot bone, Tibial torsion, Positional...	ORPHA:566943
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Micrognathi...	OMIM:619326
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Anemia of inadequate production, Decreased fertil...	ORPHA:91349
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Kyphosis, Short toe, Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes melli...	ORPHA:3085
Ovarian Dysgenesis 4	Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno...	OMIM:616185
Reni Syndrome	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypoglycemia, Hypogonad...	OMIM:617575
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteoporosis, Osteopenia, Hypogonadotropic hypogonadism	OMIM:615269
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Satoyoshi Syndrome	Alopecia universalis, Abnormality of the uterus, Abnormality of the ovary, Abnormal hair morpholo...	ORPHA:3130
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Premature Ovarian Failure 1	Increased circulating gonadotropin level	OMIM:311360
Ribbing Disease	Diaphyseal sclerosis	OMIM:601477
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo...	ORPHA:79106
47,Xyy Syndrome	Varicocele, Finger clinodactyly, Tall stature, Azoospermia, Cryptorchidism, Micropenis, Increased...	ORPHA:8
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,...	ORPHA:983
Oocyte/Zygote/Embryo Maturation Arrest 16	Infertility	OMIM:617234
Mccune-Albright Syndrome	Renal phosphate wasting, Increased circulating cortisol level, Increased circulating prolactin co...	ORPHA:562
Spermatogenic Failure 13	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615841
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu...	ORPHA:2790
Syndromic X-Linked Intellectual Disability 7	Sparse body hair, Hypogonadism, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis	ORPHA:85274
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Oocyte/Zygote/Embryo Maturation Arrest 8	Abnormality of the menstrual cycle, Female infertility	OMIM:619009
Spermatogenic Failure 24	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile...	OMIM:617959
Isochromosomy Yq	Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen...	ORPHA:98798
Pituicytoma	Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ...	ORPHA:251623
Van Buchem Disease	Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis	OMIM:239100
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Primary amenorrhea	OMIM:300604
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh...	ORPHA:2232
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level...	ORPHA:90795
46,Xx Sex Reversal 5	Increased serum testosterone level, Ambiguous genitalia, Urogenital sinus anomaly, Aplasia of the...	OMIM:618901
Premature Ovarian Failure 11	Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Secondary amenorrhea	OMIM:616946
Aromatase Deficiency	Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea	OMIM:613546
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m...	ORPHA:3411
Rudiger Syndrome	Micropenis, Bicornuate uterus, Ovarian cyst	OMIM:268650
Glucocorticoid Resistance, Generalized	Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I...	OMIM:615962
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Clitoral hypertrophy, Frontal balding, Tall stature, Decreased fertility, W...	ORPHA:90794
Asperger Syndrome, Susceptibility To, 1	Impaired ability to form peer relationships	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Impaired ability to form peer relationships	OMIM:608631
Ovarian Dysgenesis 1	Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis	OMIM:233300
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Systemic lupus erythematosus, Hyperglycemia, Hyperinsulinemi...	ORPHA:2298
Leydig Cell Hypoplasia	Cryptorchidism, Male pseudohermaphroditism, Abnormal internal genitalia, Primary amenorrhea, Fema...	ORPHA:755
Body Mass Index Quantitative Trait Locus 20	Tall stature, Obesity, Increased bone mineral density, Hyperinsulinemia	OMIM:618406
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Increased circulating androstenedione concentration, Aplasia of th...	OMIM:158330
Autoinflammatory Disease, Familial, Behcet-Like 3	Vaginal mucosal ulceration	OMIM:618287
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero...	ORPHA:325124
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Rhizomelic Dysplasia, Ain-Naz Type	Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypoplas...	OMIM:619598
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight, Maturity-onset diabetes of the young	OMIM:613375
Cortisone Reductase Deficiency 1	Precocious puberty, Alopecia, Obesity, Hirsutism, Oligomenorrhea, Infertility	OMIM:604931
Bardet-Biedl Syndrome 10	Hypogonadism, Renal cyst, Obesity	OMIM:615987
Hypergonadotropic Hypogonadism-Cataract Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit...	ORPHA:2410
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
46,Xy Sex Reversal 5	Abnormal female external genitalia morphology, Abnormality of circulating cortisol level, Abnorma...	OMIM:613080
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Spermatogenic Failure 15	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin...	OMIM:616950
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Microphallus, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary a...	OMIM:614840
Acromesomelic Dysplasia 3	Elevated circulating luteinizing hormone level, Carpal synostosis, Fibular aplasia, Broad foot, T...	OMIM:609441
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger...	ORPHA:93323
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Popliteal Pterygium Syndrome	Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,...	OMIM:119500
Polyembryoma	Irregular menstruation, Abnormal onset of bleeding, Increased serum serotonin, Abnormal circulati...	ORPHA:180229
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Hypoplasia of the odontoid process, Cervical spin...	OMIM:305400
Lipodystrophy, Partial, Acquired, Susceptibility To	Loss of subcutaneous adipose tissue from upper limbs, Loss of truncal subcutaneous adipose tissue...	OMIM:608709
Familial Cylindromatosis	Telangiectasia of the skin	ORPHA:211
Polyendocrine-Polyneuropathy Syndrome	Proximal muscle weakness in lower limbs, Alopecia, Central hypothyroidism, Hypoglycemia, Decrease...	ORPHA:453533
Post-Traumatic Pituitary Deficiency	Osteopenia, Hypotension, Hypoglycemia, Decreased response to growth hormone stimulation test, Pan...	ORPHA:95619
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Large for gestational age, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Truncal obesity, Hy...	ORPHA:293964
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal limb bone morphology, Limb undergrowth, Abnormal cortica...	ORPHA:2204
Congenital Factor Vii Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ...	ORPHA:327
Seckel Syndrome 7	Central hypothyroidism, Lumbar scoliosis, Primary amenorrhea, Clinodactyly of the 5th finger, Hyp...	OMIM:614851
Porokeratosis 2, Palmar, Plantar, And Disseminated Type	Palmar telangiectasia, Plantar telangiectasia	OMIM:175850
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Familial Partial Lipodystrophy, Köbberling Type	Hyperinsulinemia, Polycystic ovaries, Pancreatitis, Diabetes mellitus, Lipoatrophy	ORPHA:79084
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m...	ORPHA:970
Intellectual Developmental Disorder, Autosomal Recessive 64	Reduced social reciprocity	OMIM:618103
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia	ORPHA:2795
Bardet-Biedl Syndrome 5	Hypogonadism, Obesity, Micropenis, External genital hypoplasia	OMIM:615983
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv...	ORPHA:166119
Spermatogenic Failure 2	Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia	OMIM:108420
Hip Dysplasia, Beukes Type	Abnormal epiphysis morphology, Broad femoral neck, Abnormality of the epiphysis of the femoral he...	ORPHA:2114
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Satoyoshi Syndrome	Alopecia, Amenorrhea, Hypoplasia of the uterus, Alopecia universalis	OMIM:600705
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary	ORPHA:1875
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Decreased circulating dehydroepiandrosterone concentration, Increased circulating cor...	OMIM:610489
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased muscle mass, Hyperglycemia, Arrhythmia, Elevated jugular venous pressure, Weight loss, ...	ORPHA:465508
45,X/46,Xy Mixed Gonadal Dysgenesis	Recurrent otitis media, Streak ovary, Micrognathia, Abnormal scrotum morphology, Cryptorchidism, ...	ORPHA:1772
Progeria-Short Stature-Pigmented Nevi Syndrome	Insulin-resistant diabetes mellitus, Microcytic anemia, Micrognathia, Low posterior hairline, Pre...	ORPHA:2959
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity, Thick eyebrow, Cryptorchidism	OMIM:309585
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Intellectual Developmental Disorder With Autism And Speech Delay	Reduced social reciprocity	OMIM:606053
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Congestive heart failure, Obesity, Azoospermia, Type II diabetes mellitus, Ol...	OMIM:615703
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Unilateral renal agenesis, Sparse pubic hair, Decreased serum testosterone concent...	OMIM:308700
Rabson-Mendenhall Syndrome	Clitoral hypertrophy, Insulin-resistant diabetes mellitus, Premature graying of hair, Precocious ...	ORPHA:769
Cervical Cancer	Cervix cancer	OMIM:603956
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce...	OMIM:312863
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Abnormal social behavior	ORPHA:436151
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis, Scoliosis, A...	ORPHA:1988
Osteoporosis	Osteoporosis	OMIM:166710
Extensor Tendons Of Finger Anomalies	Osteoporosis, Limitation of joint mobility, Camptodactyly of finger	ORPHA:3294
Lipodystrophy, Familial Partial, Type 3	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Reduced subcuta...	OMIM:604367
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Reduced response to gonadotropin-releasing hormone stimu...	OMIM:616030
46,Xx Sex Reversal 1	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Tall stature, Azoospermia, ...	OMIM:400045
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm...	ORPHA:3344
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasiform dermatitis, Hematuria, Weight lo...	ORPHA:49041
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob...	OMIM:114000
Hypogonadotropic Hypogonadism 25 With Anosmia	Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-...	OMIM:618841
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Reduced circulating growt...	OMIM:300845
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno...	ORPHA:166277
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased serum testosterone concentration, Azoospermia,...	OMIM:614897
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Arthralgia of the hip, Broad femoral neck, Hypopl...	OMIM:607078
46,Xx Gonadal Dysgenesis	Decreased serum estradiol, Sparse pubic hair, Aplasia/hypoplasia of the uterus, Gonadal dysgenesi...	ORPHA:243
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Maternal Uniparental Disomy Of Chromosome 6	Clitoral hypertrophy, Slender long bone, Eczematoid dermatitis, Congenital adrenal hyperplasia, I...	ORPHA:96181
Moyamoya Disease 1	Telangiectasia, Inflammatory arteriopathy	OMIM:252350
Akt2-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased intraabdominal fat, P...	ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Abnormal labia majora morpholog...	ORPHA:435660
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus	ORPHA:2578
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosclerosi...	OMIM:607634
Ataxia-Telangiectasia	Skeletal muscle atrophy, Aplasia/Hypoplasia of the thymus, Failure to thrive, Premature graying o...	ORPHA:100
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin...	OMIM:618459
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Ovarian cyst, Hirsutism, Enlarged polycystic ovaries, Increased serum t...	ORPHA:64739
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Loss of glu...	ORPHA:435651
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Osteopenia, Alopecia, Insulin-resistant diabetes mellitus, Abnormal T-...	ORPHA:3464
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Ane Syndrome	Alopecia, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormo...	ORPHA:157954
Amed Syndrome, Digenic	Bone marrow hypocellularity, Failure to thrive, Leukopenia, Long thumb, Acute myeloid leukemia, A...	OMIM:619151
Xq27.3Q28 Duplication Syndrome	Failure to thrive, Sparse body hair, Hypogonadism, Decreased testicular size, Cryptorchidism, Tru...	ORPHA:261483
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Leptin Receptor Deficiency	Recurrent upper respiratory tract infections, Decreased response to growth hormone stimulation te...	OMIM:614963
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea...	OMIM:617514
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Highly arched eyebrow, Sparse pubic hair, Female infertility, Amenorrhea,...	OMIM:110100
Renal Cysts And Diabetes Syndrome	Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypoplasia of the u...	OMIM:137920
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Lead Poisoning	Chronic kidney disease, Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increas...	ORPHA:330015
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:168558
Pyle Disease	Absent paranasal sinuses, Genu valgum, Limited elbow extension, Thin bony cortex, Metaphyseal dys...	OMIM:265900
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:289548
Cranio-Osteoarthropathy	Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti...	ORPHA:1525
Congenital Generalized Lipodystrophy	Clitoral hypertrophy, Precocious puberty in females, Failure to thrive, Overgrowth of external ge...	ORPHA:528
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Elevated circulating luteinizing hormone level, Hypoplastic scapul...	ORPHA:95699
Methemoglobinemia And Ambiguous Genitalia	Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian...	OMIM:250790
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, ...	ORPHA:1423
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Galactosemia I	Aminoaciduria, Galactosuria, Failure to thrive, Increased level of galactitol in urine, Reduced e...	OMIM:230400
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D...	OMIM:615513
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density	OMIM:241520
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Cernunnos-Xlf Deficiency	Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T...	ORPHA:169079
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph...	OMIM:301101
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant...	ORPHA:90301
Melorheostosis	Lower limb asymmetry, Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthr...	ORPHA:2485
Type 2 Diabetes Mellitus	Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus	OMIM:125853
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad...	OMIM:617719
Leptin Deficiency Or Dysfunction	Hypogonadism, Decreased testicular size, Obesity, Primary amenorrhea, Micropenis	OMIM:614962
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo...	OMIM:620438
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Craniosynostosis, Increased bone mineral density	ORPHA:178377
Ziegler-Huang Syndrome	Hypogonadism, Cryptorchidism, Elevated circulating follicle stimulating hormone level, Anterior p...	OMIM:620501
Frasier Syndrome	Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G...	ORPHA:347
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Acrodysostosis	Abnormal female external genitalia morphology, Cryptorchidism, Bowing of the long bones, Abnormal...	ORPHA:950
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Hypogonadism, Obesity, Decreased fertility, Low posterior hairline, Abnormal hair quantity, Abnor...	ORPHA:2233
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy...	OMIM:267500
Familial Expansile Osteolysis	Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex	OMIM:174810
Asherman Syndrome	Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O...	ORPHA:137686
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility	ORPHA:3000
Omphalocele-Cleft Palate Syndrome, Lethal	Bicornuate uterus	OMIM:258320
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ...	OMIM:201750
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla...	OMIM:147891
Slc35A2-Cdg	Short tibia, Talipes equinovarus, Precocious puberty, Osteopenia, Abnormal heart morphology, Tetr...	ORPHA:356961
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i...	OMIM:613501
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Decreased testicular size, Obesity, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenor...	OMIM:610628
Hypodontia-Dysplasia Of Nails Syndrome	Polycystic ovaries	ORPHA:2228
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Limitation of joint mobility, Synostosis of carpal bones, Short t...	ORPHA:90650
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Primary amenorrhea, Hypergonadotropic hypogonadism, Gonadal dysgenesis	OMIM:607080
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Short distal phalanx of finger, Brachydactyly, Joint hypermobility	ORPHA:2787
Myoectodermal Gonadal Dysgenesis Syndrome	Bifid distal phalanx of toe, Elevated circulating luteinizing hormone level, Cutaneous finger syn...	OMIM:618419
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona...	OMIM:308750
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Hyperostosis, ...	OMIM:144750
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity...	ORPHA:71529
Bardet-Biedl Syndrome 4	Hypogonadism, Obesity, External genital hypoplasia, Cryptorchidism, Renal cyst	OMIM:615982
48,Xxyy Syndrome	Elbow dislocation, Tall stature, Type II diabetes mellitus, Cryptorchidism, Talipes, Radioulnar s...	ORPHA:10
Spermatogenic Failure 44	Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size...	OMIM:619044
Flynn-Aird Syndrome	Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral...	OMIM:136300
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus	OMIM:613877
Osteogenesis Imperfecta, Type Xxii	Slender long bone, Decreased circulating osteocalcin level, Bowing of the long bones, Pseudoarthr...	OMIM:619795
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ...	ORPHA:572333
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Ambiguous genitalia, male, Amb...	ORPHA:753
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Micrognathia, Cryptorchidism, R...	ORPHA:84
Epiphyseal Dysplasia, Multiple, 1	Delayed epiphyseal ossification, Hip osteoarthritis, Epiphyseal dysplasia, Broad femoral neck, Ir...	OMIM:132400
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Silver-Russell Syndrome	Premature adrenarche, Abnormal vagina morphology, Decreased muscle mass, Recurrent hypoglycemia, ...	ORPHA:813
Aromatase Deficiency	Insulin resistance, Female infertility, Male infertility, Tall stature, Obesity, Ambiguous genita...	ORPHA:91
48,Xxxy Syndrome	Small scrotum, Elbow dislocation, Tall stature, Type II diabetes mellitus, Cryptorchidism, Radiou...	ORPHA:96263
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Abnormal foot morphology, Upper limb undergrowth, Aplasia/hy...	ORPHA:75508
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Calf muscle pseudohypertrophy, Insulin-resistant diabetes mellitus, Congestiv...	ORPHA:79083
Panhypophysitis	Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Decrea...	ORPHA:95513
Bangstad Syndrome	Type I diabetes mellitus, Deviation of finger, Increased circulating cortisol level, Abnormality ...	ORPHA:1227
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P...	ORPHA:3329
Metaphyseal Chondrodysplasia, Spahr Type	Abnormal epiphysis morphology, Abnormal metaphysis morphology, Bowing of the long bones, Metaphys...	ORPHA:2501
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ...	OMIM:613500
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Hypoplasia of penis, Obesity, Aplasia/Hypoplasia of the testes, Cryptorchidism	ORPHA:3055
Adenohypophysitis	Increased circulating prolactin concentration, Decreased serum estradiol, Decreased female libido...	ORPHA:95512
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Small scrotum, Sparse body hair, Hypogonadism, Decreased testicular size, Obesity, Eunuchoid habi...	ORPHA:2234
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615271
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance, Truncal obesity	ORPHA:140941
Woodhouse-Sakati Syndrome	Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Fine hair, Decreased se...	OMIM:241080
Premature Ovarian Failure 5	Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu...	OMIM:611548
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc...	ORPHA:171706
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Cryptorchidism, Gon...	OMIM:194072
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Secondary amenorrhea, Hypergonadotropic hypogonadism, Polycystic ovaries	OMIM:268020
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Myopathy...	ORPHA:2348
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Small hand, Maturity-onset diabetes of the young, Clinodactyly, Recurrent oti...	ORPHA:254531
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to...	OMIM:602080
Coronary Artery Disease, Autosomal Dominant, 1	Obesity, Hypertension, Myocardial infarction, Diabetes mellitus	OMIM:608320
Acquired Partial Lipodystrophy	Insulin resistance, Lipoatrophy	ORPHA:79087
Bardet-Biedl Syndrome 16	Bronchiolitis, Renal agenesis, Hypogonadism, Recurrent otitis media, External genital hypoplasia,...	OMIM:615993
46,Xy Sex Reversal 4	Renal dysplasia, Gonadal dysgenesis, Recurrent otitis media, Distal symphalangism, Micrognathia, ...	OMIM:154230
Bardet-Biedl Syndrome 2	Dilated cardiomyopathy, Hypogonadism, Obesity, External genital hypoplasia, Diabetes mellitus	OMIM:615981
Cystic Echinococcosis	Peritoneal abscess, Pulmonary cyst, Hyperbilirubinemia, Abscess, Ovarian cyst, Increased circulat...	ORPHA:400
Telangiectasia, Hereditary Benign	Diffuse telangiectasia	OMIM:187260
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic...	OMIM:146110
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Delay...	OMIM:617974
Prader-Willi Syndrome	Small scrotum, Small hand, Clinodactyly, Decreased HDL cholesterol concentration, Hyperinsulinemi...	OMIM:176270
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism	OMIM:307500
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Generalized lipodystrophy, Reduced subcutaneous adipose tissue, Lipodystrophy...	OMIM:612526
Preeclampsia	Chronic kidney disease, Elevated systolic blood pressure, Type I diabetes mellitus, Acute kidney ...	ORPHA:275555
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Type I diabetes mellitus, Elevated circulating luteinizing hormone level, Pelvic girdle muscle at...	ORPHA:3044
Donohue Syndrome	Precocious puberty, Postprandial hyperglycemia, Clitoral hypertrophy, Long penis, Skeletal muscle...	OMIM:246200
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Vaginal fistula	ORPHA:2597
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Pes planus, ...	OMIM:619638
Immunodeficiency, Common Variable, 13	Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Finger joint hypermobility, Obesity, Gait disturbance	ORPHA:436141
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody...	OMIM:619846
Obesity	Obesity, Increased waist to hip ratio	OMIM:601665
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Increased circulating antibod...	ORPHA:1310
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk...	ORPHA:411593
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Progressive psychomotor deterioration, Generalized lipodystrophy, Hyperinsuli...	ORPHA:363400
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal morphology of female internal genit...	ORPHA:2141
Intermediate Osteopetrosis	Erlenmeyer flask deformity of the femurs, Cortical sclerosis, Osteomyelitis, Recurrent fractures,...	ORPHA:210110
Luscan-Lumish Syndrome	Irregular menstruation, High anterior hairline, Obesity, Polycystic ovaries, Hirsutism, Overgrowth	OMIM:616831
Spermatogenic Failure 17	Male infertility	OMIM:617214
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe...	OMIM:146255
Temple Syndrome	Precocious puberty, Small hand, Maturity-onset diabetes of the young, Clinodactyly, Recurrent oti...	OMIM:616222
Autosomal Recessive Spastic Paraplegia Type 26	Abnormality of the urinary system, Skeletal muscle atrophy, Decreased serum testosterone concentr...	ORPHA:101006
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Decreased fibular diameter, Micrognathia, Decreased skull ossification, Ventricular septal defect...	OMIM:616897
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Lipodystrophy, Diabetes mellitus, Abdominal obesity	OMIM:615980
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada...	OMIM:194080
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Immunodeficiency 48	Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation...	OMIM:269840
Pigmented Nodular Adrenocortical Disease, Primary, 2	Increased circulating cortisol level, Bruising susceptibility, Pigmented micronodular adrenocorti...	OMIM:610475
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi...	ORPHA:3409
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Short distal phalanx of finger, Highly arched eyebrow, Clinodactyly, Hypertrichosis, Decreased re...	OMIM:615866
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,...	OMIM:274000
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cholestasis, Hepatic steatosis, Dysmenorrhea, Increased body weight, Polycystic ovaries, Myoglobi...	ORPHA:264580
Perrault Syndrome 1	Gonadal dysgenesis, Gait ataxia, Ataxia, Increased circulating gonadotropin level, Osteoporosis	OMIM:233400
Werner Syndrome	Small hand, Premature graying of hair, Slender build, Decreased fertility, Type II diabetes melli...	ORPHA:902
Cerebrooculofacioskeletal Syndrome 1	Insulin resistance, Joint contracture of the hand, Deep longitudinal plantar crease, Recurrent pn...	OMIM:214150
Spondyloepiphyseal Dysplasia Congenita	Aplasia/hypoplasia involving bones of the extremities, Short femoral neck, Abnormal foot morpholo...	ORPHA:94068
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va...	ORPHA:65681
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Renal hypoplasia, Finger syndactyly, Abnormal mesentery morphology, Aplasia of the proximal phala...	ORPHA:2256
Xp22.13P22.2 Duplication Syndrome	Small hand, High anterior hairline, Congenital diaphragmatic hernia, Polycystic ovaries, 2-3 toe ...	ORPHA:284180
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Joint stiffness, Obesity	ORPHA:1078
Caudal Duplication Anomaly	Uterus didelphys	OMIM:607864
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Intellectual Developmental Disorder, Autosomal Recessive 6	Reduced social reciprocity	OMIM:611092
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens, Male infertility	OMIM:277180
Metatropic Dysplasia	Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Hypoplastic cervical vert...	ORPHA:2635
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Fractures o...	OMIM:166600
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Male hypogonadism, Micrognathia, Cryptorchidism, Telangiectasia of the skin, ...	OMIM:615381
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co...	OMIM:620282
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Type I diabetes mellitus, Limitation of joint mobility, Cryptorchidism, Proteinuria,...	ORPHA:1192
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of the prostate, Shortening of all middle phalanges of the fingers, Short toe, Widely ...	OMIM:301900
Microcephaly 20, Primary, Autosomal Recessive	Vaginal atresia, Hypoplasia of the uterus	OMIM:617914
Distal Deletion 10P	Joint stiffness, Micrognathia, Cryptorchidism, Polycystic ovaries, Short neck, Clinodactyly of th...	ORPHA:1580
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Obesity Due To Prohormone Convertase I Deficiency	Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Hyperinsulinem...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Hyperinsulinem...	ORPHA:71526
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Neonatal hyperbilirubinemia, Clinodactyly, Failure to thrive, Hypoglycemia, H...	ORPHA:73272
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Diaphyseal dysplasia, Increased bone mineral density, Hyperostosis cranialis interna	OMIM:231095
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Tall stature, Hyperinsulinemia, Type II diabetes mellitus, Decreased fertil...	OMIM:269700
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteoporosis, Osteopenia, Hypogonadism	OMIM:615270
Meckel Syndrome 12	Vaginal atresia, Hypoplasia of the uterus	OMIM:616258
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Increased adipose tissue around the neck, Micrognathia, Reduced subcutaneous adipose tissue, Hepa...	ORPHA:280365
Congenital Disorder Of Glycosylation, Type Ig	Small scrotum, Short tibia, Cryptorchidism, Talipes equinovarus, Hypospadias, Hypocalcemia, Decre...	OMIM:607143
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Broad foot, Abnormality of the kidney, Foot polydactyly, Short foot, ...	OMIM:209900
Bardet-Biedl Syndrome 22	Hypogonadism, Obesity, Large for gestational age	OMIM:617119
Delayed Puberty, Self-Limited	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre...	OMIM:619613
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Gnathodiaphyseal Dysplasia	Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ...	OMIM:166260
Hypophosphatemic Bone Disease	Bowing of the legs, Rickets, Osteomalacia	OMIM:146350
Capillary Malformation-Arteriovenous Malformation 2	Telangiectasia	OMIM:618196
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt...	ORPHA:199310
Wiedemann-Rautenstrauch Syndrome	Increased circulating prolactin concentration, Recurrent otitis media, Slender build, Increased s...	ORPHA:3455
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Tall stature, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepati...	OMIM:608594
Pituitary Adenoma 1, Multiple Types	Irregular menstruation, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin...	OMIM:102200
Autoimmune Lymphoproliferative Syndrome	Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea...	ORPHA:3261
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,...	ORPHA:2235
Microphthalmia, Syndromic 9	Micrognathia, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial ...	OMIM:601186
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Premature pubarche	OMIM:614662
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Elevated circulati...	OMIM:307800
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Hypospadias	ORPHA:141333
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Inflammation of the large intestine, Hypopituitarism, Increased circulating IgE level, Recurrent ...	ORPHA:98813
Mehmo Syndrome	Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test, Difficult...	OMIM:300148
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Hypogonadism, Decreased testicular size, Decreased serum testosterone concentr...	OMIM:201100
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Clitoral hypertrophy, Failure to thrive, Ulnar deviation of the hand or of fingers...	OMIM:214100
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Recurrent hypoglycemia, Dysmenorrhea, Polycystic ovaries, Increased body weight, Myoglobinuria, C...	ORPHA:79240
Myotonic Dystrophy 2	Hypogonadism, Palpitations, Type II diabetes mellitus, Premature ventricular contraction, Elevate...	OMIM:602668
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Meningioma	Increased circulating prolactin concentration, Lower limb muscle weakness, Neoplasm of the poster...	ORPHA:2495
Proprotein Convertase 1/3 Deficiency	Obesity, Reactive hypoglycemia, Hypogonadotropic hypogonadism, Decreased circulating cortisol lev...	OMIM:600955
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet...	OMIM:256450
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De...	ORPHA:70593
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Cryptorchidism, Fibular hypoplasia, ...	OMIM:612447
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Osteomalacia, Abnormal tibia morphology, Difficulty walking...	ORPHA:249
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal foot morphology, Short tubular...	ORPHA:85184
Chromosome 15Q11-Q13 Duplication Syndrome	Impaired ability to form peer relationships, Reduced social reciprocity	OMIM:608636
Wilson-Turner Syndrome	Small hand, Micrognathia, Pes cavus, Emotional lability, Cryptorchidism, Hypogonadotropic hypogon...	ORPHA:3459
Sim1-Related Prader-Willi-Like Syndrome	Premature adrenarche, Small scrotum, Small hand, Absence of pubertal development, Type II diabete...	ORPHA:398079
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Small hand, Sandal gap, Polymicrogyria, Hypogonadism, Decreased testicular size, Pes cavus, Gait ...	OMIM:300354
Short Stature, Dauber-Argente Type	Osteopenia, Fasting hyperinsulinemia, Decreased fibular diameter, Arachnodactyly, Long toe, Long ...	OMIM:619489
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Congenital Fibrinogen Deficiency	Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemorrhagic ovarian cyst, Decrease...	ORPHA:335
Galactokinase Deficiency	Small for gestational age, Failure to thrive, Hypoglycemia, Increased level of galactitol in urin...	ORPHA:79237
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt...	OMIM:612692
Abdominal Obesity-Metabolic Syndrome 1	Hypertension, Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension, Abdominal obesity	OMIM:605572
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	Infertility, Male pseudohermaphroditism, Hypothyroidism, Female external genitalia in individual ...	OMIM:264300
Perrault Syndrome 2	Amenorrhea, Streak ovary	OMIM:614926
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteoporosis, Osteopenia, Hypogonadism	OMIM:615267
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Short femoral neck, Reduced bone mineral density, Brachydactyly, Delayed ossification of carpal b...	OMIM:618392
Mehmo Syndrome	External genital hypoplasia, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis, Diabetes m...	ORPHA:85282
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Lymphadenopathy, Anemia	ORPHA:100024
Schaaf-Yang Syndrome	Small hand, Rocker bottom foot, Clinodactyly, Hypogonadism, Failure to thrive in infancy, Obesity...	OMIM:615547
Metaphyseal Chondrodysplasia, Schmid Type	Radial metaphyseal irregularity, Genu varum, Femoral bowing, Short long bone, Metaphyseal irregul...	ORPHA:174
Pituitary Hormone Deficiency, Combined, 2	Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal...	OMIM:262600
Immunodeficiency 102	Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p...	OMIM:301082
Hemochromatosis, Type 1	Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m...	OMIM:235200
Familial Adenomatous Polyposis 4	Renal cyst, Ovarian cyst, Uterine leiomyoma	OMIM:617100
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Bardet-Biedl Syndrome 8	Hypogonadism, Obesity, Hypospadias	OMIM:615985
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol ...	ORPHA:470
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Hypogonadism, Obesity, Cryptorchidism, External genital hypoplasia	ORPHA:363741
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Metaphyseal irregularity, Rickets, Bulging epiphyses, Hypophosph...	OMIM:241530
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea	OMIM:614858
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Clitoral hypertrophy, Joint contracture of the hand, Failure to thrive, Abnormal h...	OMIM:214110
Hydrocephalus-Obesity-Hypogonadism Syndrome	Obesity, Azoospermia, Low posterior hairline, Sparse facial hair, Absent facial hair, Hypergonado...	ORPHA:2183
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, L...	OMIM:619281
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Mesangial Immune complex d...	OMIM:613496
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Fibular bowing, Femoral bowing, Spar...	OMIM:600081
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti...	ORPHA:449395
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Recurren...	OMIM:208900
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Labial pseudohyper...	OMIM:151660
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature adrenarche, Small scrotum, Small hand, Bulimia, Decreased circulating T4 concentration,...	ORPHA:98793
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Hypogonadism	OMIM:160900
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem...	OMIM:618982
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature adrenarche, Small scrotum, Small hand, Bulimia, Decreased circulating T4 concentration,...	ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature adrenarche, Small scrotum, Small hand, Bulimia, Decreased circulating T4 concentration,...	ORPHA:177904
Spondyloepimetaphyseal Dysplasia, Irapa Type	Limitation of joint mobility, Synostosis of carpal bones, Abnormal epiphysis morphology, Micromel...	ORPHA:93351
Temple Syndrome	Precocious puberty, Small hand, Recurrent hypoglycemia, Decreased response to growth hormone stim...	ORPHA:254516
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Lack of T cell function, Increased circulating IgE level, ...	ORPHA:277
Ovarian Fibroma	Abnormality of the ovary, Ovarian fibroma, Gonadal calcification	ORPHA:314473
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Premature adrenarche, Small scrotum, Small hand, Bulimia, Decreased circulating T4 concentration,...	ORPHA:177901
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Osteopenia, Hypotension, Ectopic anterior pituitary gland, Hypoglyce...	ORPHA:90695
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke...	OMIM:300554
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Cry...	OMIM:609945
Bardet-Biedl Syndrome 7	Hypogonadism, Obesity	OMIM:615984
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity, Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Chondrodysplasia, Blomstrand Type	Micromelia, Flared metaphysis, Micrognathia, Short ribs, Generalized osteosclerosis, Advanced oss...	OMIM:215045
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Abnormality of the uterus	OMIM:617805
Schimke Immunoosseous Dysplasia	Shallow acetabular fossae, Lymphopenia, Pancytopenia, Talipes equinovarus, Abnormal immunoglobuli...	OMIM:242900
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt...	OMIM:618969
Osteogenesis Imperfecta, Type X	Osteopenia, Rhizomelia, Micromelia, Micrognathia, Genu valgum, Fibular bowing, Tibial bowing, Joi...	OMIM:613848
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Failure to thrive, Decreased cir...	OMIM:300400
Bardet-Biedl Syndrome 6	External genital hypoplasia, Obesity, Renal cyst, Vaginal atresia, Hypospadias, Diabetes mellitus	OMIM:605231
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Dislocated radial head, Micrognathia, Scapul...	OMIM:602471
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De...	OMIM:614839
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Osteolysis	OMIM:167250
Bloom Syndrome	Micrognathia, Abscess, Abnormal proportion of CD8-positive T cells, Acute myeloid leukemia, Oligo...	ORPHA:125
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Wiedemann-Rautenstrauch Syndrome	Clinodactyly, Micrognathia, Cryptorchidism, Reduced subcutaneous adipose tissue, Talipes equinova...	OMIM:264090
Orthostatic Hypotension 1	Hypomagnesemia, Joint hypermobility, Brachydactyly, Retrograde ejaculation, Nocturia, Elevated ci...	OMIM:223360
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Obesity	ORPHA:217377
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Moderate albuminuria, Type I diabetes mellitus, Platyspondyly, Periodontitis,...	OMIM:619269
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Secundum atrial septal defect, Gonadal dysgenesis, Decreased pro...	OMIM:611926
Adrenocortical Carcinoma	Increased circulating cortisol level, Hypertrichosis, Increased urinary cortisol level, Hyperaldo...	ORPHA:1501
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Coccidioidomycosis	Abnormality of the spleen, Morbilliform rash, Abscess, Abnormality of the bladder, Abnormality of...	ORPHA:228123
Diastrophic Dysplasia	Ulnar deviation of finger, Hypoplastic cervical vertebrae, Abnormal epiphysis morphology, Microme...	ORPHA:628
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Cryptorchidism, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Ambiguous genitalia, H...	ORPHA:752
Endocardial Fibroelastosis	Restrictive cardiomyopathy, Sandal gap, Hypoglycemia, Congestive heart failure, Micrognathia, Cry...	ORPHA:2022
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia	OMIM:601457
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
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Micrognathia, Abnormal ...	ORPHA:2097
3M Syndrome	Congenital hip dislocation, Rocker bottom foot, Slender long bone, Micromelia, Abnormal dental en...	ORPHA:2616
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Fractured rib, Unilateral renal agenesis, Osteopenia, Metaphyseal spurs, Umb...	OMIM:618188
Acquired Generalized Lipodystrophy	Insulin resistance, Calf muscle pseudohypertrophy, Abnormality of complement system, Insulin-resi...	ORPHA:79086
Intellectual Developmental Disorder, X-Linked 97	Obesity, Synophrys	OMIM:300803
Short Syndrome	Insulin resistance, Slender long bone, Clinodactyly, Insulin-resistant diabetes mellitus, Radial ...	OMIM:269880
Adrenal Hypoplasia, Congenital	Precocious puberty, Muscular dystrophy, Failure to thrive, Absence of pubertal development, Adren...	OMIM:300200
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Increased circulating IgE le...	OMIM:617241
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Small hand, Maturity-onset diabetes of the young, Clinodactyly, Recurrent oti...	ORPHA:96184
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Autoimmunity, ...	OMIM:617006
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato...	ORPHA:99867
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Cl...	OMIM:618348
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Shallow acetabular fossae, Lymphopenia, Abnormal ...	ORPHA:1830
Microphthalmia, Syndromic 12	Bicornuate uterus, Cryptorchidism	OMIM:615524
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hypogonadism, Obesity, Cryptorchidism	OMIM:601794
Hypophosphatasia, Adult	Rickets, Osteomalacia, Pathologic fracture, Abnormal foot morphology, Increased susceptibility to...	OMIM:146300
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Hepatos...	OMIM:618534
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Decreased testicular size, Genu valgum, Cryptorchidism, Micropenis, Osteoporosis	OMIM:614880
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Renal hypoplasia, Postaxial foot polydactyly, Hypogonadism, Mesoaxial han...	OMIM:615996
Sheehan Syndrome	Central adrenal insufficiency, Decreased serum estradiol, Sparse pubic hair, Breast hypoplasia, O...	ORPHA:91355
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Anterior pituitar...	ORPHA:95494
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Hypoplasia of the odontoid process, Limitation of joint mobility, Finger swe...	ORPHA:93284
Short Stature, Microcephaly, And Endocrine Dysfunction	Insulin resistance, Unilateral renal agenesis, Renal hypoplasia, Dilated cardiomyopathy, Clinodac...	OMIM:616541
Oculocerebrorenal Syndrome Of Lowe	Periodontitis, Osteomalacia, Micrognathia, Genu valgum, Cryptorchidism, Hematuria, Hypophosphatem...	ORPHA:534
Craniopharyngioma	Increased circulating prolactin concentration, Hypogonadism, Hypopituitarism, Obesity, Central ad...	ORPHA:54595
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Prader-Willi Syndrome Due To Imprinting Mutation	External genital hypoplasia, Hypogonadotropic hypogonadism, Obesity, Hypopigmentation of hair	ORPHA:177910
Gordon Holmes Syndrome	Hypogonadotropic hypogonadism, Oligomenorrhea, Secondary amenorrhea, Primary amenorrhea	OMIM:212840
Atelosteogenesis, Type I	Radial bowing, Fibular aplasia, Micrognathia, Cryptorchidism, Talipes, Talipes equinovarus, Short...	OMIM:108720
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
Kallmann Syndrome	Decreased fertility, Cryptorchidism, Pes planus, Ataxia, Primary amenorrhea, Renal agenesis, Abno...	ORPHA:478
Osteopetrosis, Autosomal Recessive 9	Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis	OMIM:620366
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Xanthelasma, Hepatic steatosis, Polycystic ov...	ORPHA:79259
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus	OMIM:612227
Bardet-Biedl Syndrome 12	Hydrometrocolpos, Hypogonadism, Obesity, Vaginal atresia, Cystic renal dysplasia	OMIM:615989
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Small scrotum, Moderate albuminuria, Osteopenia, Hypogonadism, Pathologic fracture, External geni...	OMIM:614231
Hypophosphatemic Rickets, Autosomal Dominant	Abnormality of the lower limb, Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Robinow Syndrome	Small scrotum, Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Hypoplastic labia majo...	ORPHA:97360
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Micropenis, Childhood-onset truncal obesity, Truncal obesity	OMIM:610156
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Myopathy, Weight los...	ORPHA:85450
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Male hypogonadism, Small hand, Shuffling gait, Bruxism, Obesity, Micrognathia, Pes cavus, Emotion...	OMIM:300055
Immunodeficiency 61	Decreased circulating total IgM, Obesity, Decreased circulating IgG2 level, Decreased circulating...	OMIM:300310
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Micrognathia, Type...	ORPHA:99413
Mosaic Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Micrognathia, Type...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Micrognathia, Type...	ORPHA:99226
Turner Syndrome	Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Micrognathia, Type...	ORPHA:881
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Ambiguous genitalia, Micrognathia, Cryptorchidism	ORPHA:1237
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Precocious puberty, Postprandial hyperglycemia, Clitoral hypertrophy, Long penis, Insulin-resista...	OMIM:262190
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Single transverse palmar crease, Joint hypermobility, Proteinuria, Motor stereotypy, Glomerular s...	OMIM:619428
Classic Galactosemia	Ataxia, Depression, Gait disturbance, Hypoglycemia, Gait imbalance, Cryptorchidism, Hepatomegaly,...	ORPHA:79239
Renal Hypodysplasia/Aplasia 1	Vaginal atresia, Bicornuate uterus, Primary amenorrhea	OMIM:191830
Steinert Myotonic Dystrophy	Hyperinsulinemia, Decreased fertility, Talipes equinovarus, Pelvic girdle muscle weakness, Prolon...	ORPHA:273
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Lymphopenia, Aplasia of the thymus, Diffuse mesangial scler...	OMIM:102700
Gorham-Stout Disease	Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormal femur morphology,...	ORPHA:73
Cowden Syndrome 1	Varicocele, Thyroid adenoma, Goiter, Lymphopenia, Micrognathia, Ovarian cyst, Ovarian carcinoma, ...	OMIM:158350
Hypothyroidism, Central, With Testicular Enlargement	Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t...	OMIM:300888
Alagille Syndrome	Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Failure to thrive, Cholesta...	ORPHA:52
Bardet-Biedl Syndrome	Fifth finger distal phalanx clinodactyly, Chronic kidney disease, Inflammation of the large intes...	ORPHA:110
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Elevated circulating par...	OMIM:264700
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Bifid scrotum, Glandular hypospadias, Penile hypospadias, Cryptorchidism, Penoscrotal hypospadias...	ORPHA:456328
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Premature adrenarche, Clinodactyly, Decreased muscle mass, Micrognathia, Esophagitis, Cryptorchid...	ORPHA:96182
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Magel2-Related Prader-Willi-Like Syndrome	Small scrotum, Small hand, Absence of pubertal development, Type II diabetes mellitus, Cryptorchi...	ORPHA:398069
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,...	ORPHA:3320
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Short toe, Patellar hypoplasia, Hypogonadism, Decreased testicular size, External genital hypopla...	ORPHA:3041
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo...	OMIM:201000
Infantile Systemic Hyalinosis	Osteopenia, Aplasia/Hypoplasia of the thymus, Micromelia, Osteomalacia, Camptodactyly of finger, ...	ORPHA:2176
Hypothyroidism, Congenital, Nongoitrous, 8	Central hypothyroidism, Secondary amenorrhea, Decreased circulating free T4 concentration, Attent...	OMIM:301033
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Short neck,...	ORPHA:226307
Laron Syndrome	Short toe, Hypoglycemia, Micrognathia, Delayed puberty, Brachydactyly, Osteoarthritis, Hyperchole...	ORPHA:633
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Granuloma, Hemophagocytosi...	OMIM:619858
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Atrioventricular canal defect, Short first metatarsal, Periventricular nodu...	OMIM:619135
Cednik Syndrome	Polymicrogyria, Hypogonadism, Diffuse palmoplantar hyperkeratosis, Proteinuria, Ataxia, Pachygyri...	ORPHA:66631
Pseudohypoparathyroidism, Type Ia	Elevated circulating parathyroid hormone level, Short toe, Hyperphosphatemia, Short finger, Hypog...	OMIM:103580
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Elevated circulating par...	OMIM:277440
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Type I diabetes mellitus, Atrioventricular block, Carpal osteolysis, Abnormal form of...	ORPHA:371428
Acrodysostosis 2 With Or Without Hormone Resistance	Cone-shaped epiphysis, Congenital hypothyroidism, Obesity, Cryptorchidism, Brachydactyly, Short m...	OMIM:614613
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co...	ORPHA:567544
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Self-injurious behavior, Supernumerary nipple, Atrioventricular canal defect, Interhypothalamic a...	OMIM:618929
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Broad femoral neck, Abnormal metaphysis morphology, Flat capital femoral epiphysis, F...	ORPHA:157965
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Elevated circulating creatinin...	ORPHA:230
Atelosteogenesis Type I	Rhizomelia, Absent or minimally ossified vertebral bodies, Micrognathia, Talipes equinovarus, Lim...	ORPHA:1190
22Q11.2 Deletion Syndrome	Micrognathia, Cryptorchidism, Ventricular septal defect, Arachnodactyly, Talipes equinovarus, Atr...	ORPHA:567
Leukodystrophy, Hypomyelinating, 24	Hypothyroidism, B lymphocytopenia	OMIM:619851
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Immunodeficiency 27A	Hypoalbuminemia, Pneumonia, Rheumatoid factor positive, Enlarged mesenteric lymph node, Anorexia,...	OMIM:209950
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Decreased circulating parathyroid hormone level, Osteomalacia, Pathologic fracture, Hypophosphate...	ORPHA:157215
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Cl...	OMIM:616730
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Hypoplasia of the ovary, Subperiosteal bone formation, Osteosclerosis of the base of the skull	OMIM:609993
Adiposis Dolorosa	Painful subcutaneous lipomas, Obesity, Depression	OMIM:103200
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop...	OMIM:619374
Familial Supernumerary Nipples	Supernumerary nipple	ORPHA:2456
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Craniosynostosis, Congenital hypothyroidism, Obesity	ORPHA:88643
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Equinovarus deformity, Micrognathia, Genu valgum, Broad phalanx, ...	ORPHA:56304
Osteogenesis Imperfecta, Type Xviii	Micrognathia, Femoral bowing, Joint hypermobility, Bowing of the long bones, Thin bony cortex, Ge...	OMIM:617952
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures	OMIM:615066
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Sparse hair, Short distal phalanx of finger, Small hand, Cone-shaped epiphysis, Rhizomelia, Clino...	OMIM:614813
Narcolepsy Type 1	Precocious puberty, Depression, Male sexual dysfunction, Female sexual dysfunction, Obesity, Rest...	ORPHA:2073
Distal Duplication 5Q	Absent thumb, Eczematoid dermatitis, Micrognathia, Cryptorchidism, Ventricular septal defect, Her...	ORPHA:96097
Laurence-Moon Syndrome	Finger syndactyly, Obesity, Type II diabetes mellitus, Cryptorchidism, Renal insufficiency, Displ...	ORPHA:2377
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ...	OMIM:620430
Hypocalcemic Vitamin D-Resistant Rickets	Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Abnormal hip bone morpho...	ORPHA:93160
Spastic Paraplegia 26, Autosomal Recessive	Upper limb muscle weakness, Lower limb muscle weakness, Decreased serum testosterone concentratio...	OMIM:609195
Galloway-Mowat Syndrome 10	Congenital hypothyroidism, Stage 5 chronic kidney disease, Podocyte foot process effacement, Arac...	OMIM:619609
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Renal hypoplasia, Toe syndactyly, Renal agenesis, Umbilical hernia, Obesity, Micrognathia, Crypto...	ORPHA:171839
Williams Syndrome	Synostosis of joints, Micrognathia, Type II diabetes mellitus, Cryptorchidism, Overfriendliness, ...	ORPHA:904
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor...	OMIM:619705
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Hypoplasia of penis, Hypothyroidism, Uterus didelphys	ORPHA:2491
Cowden Syndrome 5	Thyroid adenoma, Goiter, Micrognathia, Ovarian cyst, Hypothyroidism, Palmoplantar hyperkeratosis,...	OMIM:615108
Mody	Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Glycosuria, Exocrine pancreatic insuf...	ORPHA:552
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Renal, Genital, And Middle Ear Anomalies	Vaginal atresia	OMIM:267400
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Slender long bone, Abnormal hip bone morphology, Micrognathia, Abno...	ORPHA:1486
Lipodystrophy, Familial Partial, Type 1	Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased fac...	OMIM:608600
Cowden Syndrome 6	Varicocele, Thyroid adenoma, Goiter, Micrognathia, Ovarian cyst, Hypothyroidism, Palmoplantar hyp...	OMIM:615109
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Reduced social reciprocity	ORPHA:329249
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni...	OMIM:618986
Pseudohypoparathyroidism, Type Ic	Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ...	OMIM:612462
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout, Type II diabetes mellitus	OMIM:610947
Ivic Syndrome	Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Radioulnar synostosis, C...	OMIM:147750
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Clinodactyly, Failure to thrive, Anti-beta-2-Glycoprotein...	OMIM:618048
Al Amyloidosis	Xerostomia, Postural hypotension with compensatory tachycardia, Arrhythmia, Weight loss, Abnormal...	ORPHA:85443
Pseudohypoparathyroidism Type 1C	Low urinary cyclic AMP response to PTH administration, Short neck, Calcinosis, Short metacarpal, ...	ORPHA:79444
Chung-Jansen Syndrome	Obesity, Micrognathia, Cryptorchidism, Joint hypermobility, Aggressive behavior, Attention defici...	OMIM:617991
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot...	ORPHA:329918
Senior-Loken Syndrome 9	Osteopenia, Hepatic fibrosis, Nephronophthisis, Hypogonadism, Cholestasis, Obesity, Stage 5 chron...	OMIM:616629
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Ck Syndrome	Abnormal digit morphology, Micrognathia, Abnormal cortical bone morphology, Joint hypermobility	OMIM:300831
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Obesity And Hypopigmentation	Red hair, Overgrowth, Obesity, Hyperinsulinemia	OMIM:620195
Hand-Foot-Genital Syndrome	Short 5th finger, Hypospadias, Shortening of all middle phalanges of the fingers, Short 1st metac...	OMIM:140000
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Increased circulating cortisol level, Abnormal lymph node morphology, ...	ORPHA:99889
Prune Belly Syndrome	Congenital hip dislocation, Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Abnorma...	ORPHA:2970
Ulnar-Mammary Syndrome	Decreased fertility, Cryptorchidism, Ventricular septal defect, Abnormal metacarpal morphology, A...	ORPHA:3138
Autosomal Recessive Spastic Paraplegia Type 46	Ataxia, Broad-based gait, Difficulty walking, Infertility, Decreased testicular size, Pes cavus, ...	ORPHA:320391
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Hyperglycemia, Cryptorchi...	OMIM:175700
Morm Syndrome	Micropenis, Truncal obesity	ORPHA:75858
Roifman Syndrome	Epiphyseal dysplasia, Recurrent pneumonia, Short toe, Eczematoid dermatitis, Recurrent otitis med...	ORPHA:353298
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the hip, Broad hallux, Irreg...	ORPHA:1856
Prader-Willi Syndrome	Premature adrenarche, Small scrotum, Small hand, Periodontitis, Central adrenal insufficiency, Cr...	ORPHA:739
Carpenter Syndrome	Toe syndactyly, Broad thumb, Finger syndactyly, Polysplenia, Umbilical hernia, Preaxial foot poly...	ORPHA:65759
Mandibuloacral Dysplasia	Insulin resistance, Increased subcutaneous truncal adipose tissue, Contractures of the large join...	ORPHA:2457
Intellectual Developmental Disorder, X-Linked 91	Low posterior hairline, Obesity	OMIM:300577
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Osteoporosis	OMIM:204730
Lymphatic Filariasis	Urethral obstruction, Ankle swelling, Lymphadenitis, Abnormal lung morphology, Hypereosinophilia,...	ORPHA:2035
Pituitary Apoplexy	Hypotension, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prola...	ORPHA:95613
Congenital Disorder Of Glycosylation, Type Ia	Hepatic steatosis, Ataxia, Hepatomegaly, Nephrotic syndrome, Premature ovarian insufficiency, Ost...	OMIM:212065
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ...	ORPHA:440354
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Non-Acquired Isolated Growth Hormone Deficiency	Microphallus, Abdominal obesity, Sparse hair, Neonatal hypoglycemia, Anterior hypopituitarism	ORPHA:631
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Osteopenia, Nephrocalcinosis, Restrictive cardiomyopathy, Hydrourete...	OMIM:615398
Combined Oxidative Phosphorylation Deficiency 54	Microretrognathia, Lower limb muscle weakness, Hyperglycemia, Obesity, Primary amenorrhea, Tachyc...	OMIM:619737
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Pu...	ORPHA:567546
Alg12-Cdg	Recurrent hypoglycemia, Biventricular hypertrophy, Overlapping fingers, Micrognathia, Abnormal ci...	ORPHA:79324
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Micropenis, Decreased circulating luteinizing hormone level, Cryptorchidism, Congenital adrenal h...	OMIM:202150
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Uterus didelphys, Finger syndactyly, Rudimentary fibula, Abnormal lung loba...	ORPHA:958
Primary Sjögren Syndrome	Arteritis, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Increased circulatin...	ORPHA:289390
Smith-Magenis Syndrome	Toe syndactyly, Abnormality of the ureter, Micrognathia, Renal hypoplasia/aplasia, Pes planus, Mo...	ORPHA:819
Cornelia De Lange Syndrome 5	Small hand, Toe syndactyly, Hypogonadism, Decreased testicular size, Micrognathia, Limited elbow ...	OMIM:300882
Immunodeficiency 104	T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Burkitt Lymphoma	Abnormality of the ovary	ORPHA:543
Adenocarcinoma Of The Esophagus	Obesity	ORPHA:99976
Isolated Thyroid-Stimulating Hormone Deficiency	Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Depres...	ORPHA:90674
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Broad thumb, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Neutropenia, Hepatome...	OMIM:612541
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Fryns Microphthalmia Syndrome	Unicornuate uterus	OMIM:600776
Proteus Syndrome	Mandibular hyperostosis, Hypertrophy of skin of soles, Facial hyperostosis, Thin bony cortex, Cal...	OMIM:176920
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Hemophagocytosis, Failure to thrive, Abnormal pulmonary interstitial morphol...	OMIM:619644
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease...	OMIM:615767
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Polyphagia, Calcinosis,...	ORPHA:79443
Rothmund-Thomson Syndrome	Aplastic anemia, Infertility, Aplasia/Hypoplasia of the patella, Neutropenia, Calcinosis, Leukemi...	ORPHA:2909
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter...	OMIM:274300
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis, Abnormal metaphysis morphology	ORPHA:1522
Proteasome-Associated Autoinflammatory Syndrome 1	Hypoplastic scapulae, Finger swelling, Increased circulating interleukin 8 concentration, Microcy...	OMIM:256040
Osteogenesis Imperfecta, Type Xxiii	Insulin resistance, Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broa...	OMIM:620639
Nephrotic Syndrome, Type 1	Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis, Hyp...	OMIM:256300
Postinfectious Vasculitis	Abnormality of humoral immunity, Inflammatory abnormality of the skin, Increased circulating anti...	ORPHA:48435
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Failure to thrive, Eczematoid dermatitis, Hepatitis, Increased circulat...	OMIM:304790
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ...	OMIM:619375
Albers-Schönberg Osteopetrosis	Short distal phalanx of finger, Mandibular osteomyelitis, Abnormal epiphysis morphology, Osteomye...	ORPHA:53
48,Xyyy Syndrome	Male hypogonadism, Recurrent upper respiratory tract infections, Abnormal foot morphology, Tall s...	ORPHA:99329
15Q24 Microdeletion Syndrome	Small hand, Clinodactyly, Microphallus, Failure to thrive, Decreased response to growth hormone s...	ORPHA:94065
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Cryptorchidism, Joint hypermobility, Hydronephrosis, Irritability, Ventricular septa...	OMIM:617798
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Slender finger, Hemiatrophy of upper limb, Micrognathia, Delayed patellar ossification, Abnormal ...	ORPHA:163649
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphadenopathy, Thrombocytopenia, ...	OMIM:603554
49,Xxxxy Syndrome	Small scrotum, Elbow dislocation, Type II diabetes mellitus, Cryptorchidism, Overfriendliness, Re...	ORPHA:96264
Tyrosinemia Type 1	Rickets of the lower limbs	ORPHA:882
Alström Syndrome	Chronic kidney disease, Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulin...	ORPHA:64
19P13.12 Microdeletion Syndrome	Precocious puberty, Toe clinodactyly, Self-injurious behavior, Arthrogryposis multiplex congenita...	ORPHA:254346
Progressive Pseudorheumatoid Dysplasia	Joint contracture of the hand, Camptodactyly of finger, Abnormal foot morphology, Joint stiffness...	OMIM:208230
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hypertrophic cardiomyopathy, Obesity	OMIM:620270
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hepatic fibrosis, Portal fibrosis, Failure to thrive, Hypoglycemia, Hypertrophic card...	ORPHA:369
Selective Igm Deficiency	Cellulitis, Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus,...	ORPHA:331235
11Q22.2Q22.3 Microdeletion Syndrome	Small hand, Obesity, Micrognathia, Bilateral single transverse palmar creases, Attention deficit ...	ORPHA:444002
Seckel Syndrome 10	Acute pancreatitis, Elevated circulating luteinizing hormone level, Congestive heart failure, Ele...	OMIM:617253
Peters-Plus Syndrome	Facial hypertrichosis, Umbilical hernia, Cryptorchidism, Decreased body weight, Hypoplastic labia...	OMIM:261540
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type	Obesity, Macroorchidism	OMIM:300238
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Chromosome 17Q12 Deletion Syndrome	Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Ovarian cyst, Short foot, Sparse eyeb...	OMIM:614527
Transient Neonatal Diabetes Mellitus	Failure to thrive, Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabet...	ORPHA:99886
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Broad thumb, Gonadal dysgenesis, Abnormality of the ureter, Polycystic ovaries, Renal hypoplasia/...	ORPHA:1770
Pseudohermaphroditism, Female, With Skeletal Anomalies	Clitoral hypertrophy, Ambiguous genitalia, Primary amenorrhea	OMIM:264270
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level, Cryptorchidism	OMIM:616910
Androgen Insensitivity, Partial	Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi...	OMIM:312300
Hereditary Breast And/Or Ovarian Cancer Syndrome	Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer, Neoplasm of the pancreas	ORPHA:145
Galloway-Mowat Syndrome 6	Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased response to growth hormone stimula...	OMIM:618347
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Hepatosplenomegaly, Chilblains, Hepatic steatosis, Weight...	OMIM:619487
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Micrognathia, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular...	ORPHA:96121
Idiopathic Hypercalciuria	Osteoporosis, Osteopenia	ORPHA:2197
Cach Syndrome	Renal hypoplasia, Gonadal dysgenesis, Hepatosplenomegaly, Limb ataxia, Dysgyria, Dysmetria, Irrit...	ORPHA:135
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ...	OMIM:268310
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Cryptorchidism, Limited elbow movement, Ta...	OMIM:134780
Pituitary Gigantism	Increased circulating prolactin concentration, Pituitary prolactin cell adenoma, Pituitary growth...	ORPHA:99725
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia	OMIM:619693
Whipple Disease	Cachexia, Ataxia, Anorexia, Hepatomegaly, Pedal edema, Depression, Polydipsia, Myositis, Hypothyr...	ORPHA:3452
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Wide distal femoral metaphysis, Femoral bowing, Wide pubic symphy...	OMIM:614856
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal hypoplasia, Rhizomelia, Microretrognathia, Unicoronal synostosis, Short tibia, Preaxial pol...	OMIM:616300
Pituitary Carcinoma	Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol...	ORPHA:300385
Hyperinsulinism Due To Hnf1A Deficiency	Maturity-onset diabetes of the young, Large for gestational age, Palpitations, Hyperinsulinemia, ...	ORPHA:324575
Nephrotic Syndrome, Type 7	Thickened glomerular basement membrane, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kid...	OMIM:615008
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Ren...	ORPHA:54370
Caudal Duplication	Abnormal penis morphology, Uterus didelphys, Cryptorchidism	ORPHA:1756
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit...	OMIM:620356
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr...	OMIM:618944
Peters Plus Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Cryptorchidism, Renal hypoplasia/apla...	ORPHA:709
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp...	OMIM:241600
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Rhizomelia, Short iliac bones, Supernumerary nipple, Acetabular spurs, Elevated...	OMIM:614376
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300009
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythematosus, Renal insufficiency, Me...	OMIM:613779
Acrorenal-Mandibular Syndrome	Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Abnormality of the ureter, Micrognathia...	OMIM:200980
Spastic Ataxia-Corneal Dystrophy Syndrome	Spastic ataxia, Decreased circulating antibody level, Gait disturbance, Ataxia	ORPHA:2572
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He...	OMIM:603909
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Pes cavus, Increased bone mineral density, Coxa valga	OMIM:616943
X-Linked Intellectual Disability, Cabezas Type	Small hand, Toe syndactyly, Broad-based gait, Sandal gap, Camptodactyly of finger, Hypogonadism, ...	ORPHA:85293
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Hypoplastic scapulae, Short 5th toe, Ventricular sept...	OMIM:181450
Autoimmune Hepatitis	Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone...	ORPHA:2137
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased circulating cortisol level, Increased urinary cortisol level, Emotional lability, Hepat...	ORPHA:189427
Trisomy 5P	Obesity, Hypoplasia of penis	ORPHA:1742
Poems Syndrome	Increased circulating prolactin concentration, Sclerosis of hand bone, Sclerosis of foot bone, In...	ORPHA:2905
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Hypoplastic iliac wing, Foot polydactyly, Jaundice, Cone-shaped epiphyses...	OMIM:208500
Wolfram Syndrome 1	Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus	OMIM:222300
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb,...	ORPHA:3258
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt...	OMIM:308240
Familial Multiple Lipomatosis	Insulin resistance, Overgrowth, Lipodystrophy, Increased adipose tissue	ORPHA:199276
Pde4D Haploinsufficiency Syndrome	Micrognathia, Cryptorchidism, Broad foot, Pes planus, Broad phalanx, Bilateral coxa valga, Hyposp...	ORPHA:439822
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,...	ORPHA:96334
Linear Skin Defects With Multiple Congenital Anomalies 1	Junctional ectopic tachycardia, Clitoral hypertrophy, Congenital diaphragmatic hernia, Histiocyto...	OMIM:309801
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Acne, Frontal balding, Incre...	ORPHA:786
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome...	OMIM:617730
Moyamoya Disease	Telangiectasia	ORPHA:2573
Obesity Due To Sim1 Deficiency	Hypotension, Postural hypotension with compensatory tachycardia, Obesity, Glucose intolerance, Hy...	ORPHA:369873
Ophthalmomandibulomelic Dysplasia	Mesomelia, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Limitation of joint mobi...	ORPHA:2741
Smith-Magenis Syndrome	Abnormal forearm morphology, Abnormality of the urinary system, Head-banging, Abnormal heart morp...	OMIM:182290
Dysosteosclerosis	Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Hypoplastic vertebral bodies, In...	ORPHA:1782
Telangiectasia, Hereditary Hemorrhagic, Type 5	Telangiectasia, Portal hypertension, Spontaneous, recurrent epistaxis	OMIM:615506
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Pelviscapular Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Elbow flexion contracture, Me...	ORPHA:93333
Leprechaunism	Clitoral hypertrophy, Facial hypertrichosis, Hyperinsulinemia, Decreased body weight, Large hands...	ORPHA:508
Osteopetrosis, Autosomal Recessive 4	Increased bone mineral density, Osteopetrosis, Recurrent fractures	OMIM:611490
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Recurrent upper respiratory tract infe...	ORPHA:169154
Syndactyly Type 4	Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact...	ORPHA:93405
Achondroplasia	Rhizomelia, Radial bowing, Flared metaphysis, Femoral bowing, Limited elbow extension, Trident ha...	OMIM:100800
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Difficulty walking, Hypophosph...	ORPHA:289157
Charge Syndrome	Lymphopenia, Micrognathia, Cryptorchidism, Ventricular septal defect, Overriding aorta, Atrial se...	OMIM:214800
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT...	OMIM:615954
11P15.4 Microduplication Syndrome	Highly arched eyebrow, Obesity, Synophrys	ORPHA:300305
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia	OMIM:601410
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Reduced bone miner...	ORPHA:1508
Omodysplasia 2	Limited elbow flexion, Recurrent otitis media, Micrognathia, Cryptorchidism, Dislocated radial he...	OMIM:164745
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Neutropenia	OMIM:300988
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Joint hypermobility, Arachnodactyly, Glomerulonephritis, Disproportionate...	ORPHA:2172
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility, Reduced circulating prolactin concentration	OMIM:264110
Melnick-Needles Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges...	ORPHA:2484
Intellectual Developmental Disorder, Autosomal Dominant 72	Renal hypoplasia, Tall stature, Obesity, Overfriendliness, Polyphagia, Attention deficit hyperact...	OMIM:620439
Wagr Syndrome	Obesity, Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus	ORPHA:893
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Hypochondroplasia	Flared metaphysis, Limited elbow extension, Trident hand, Aplasia/hypoplasia of the extremities, ...	OMIM:146000
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Hyperbilir...	OMIM:210710
Camptobrachydactyly	Septate vagina	ORPHA:1319
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Kyphomelic Dysplasia	Limitation of joint mobility, Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humer...	OMIM:211350
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Clinodactyly, Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Osteoporosis	OMIM:614838
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	ORPHA:486815
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Sparse eyebrow, Decreased serum testosterone concentration, Long eyelashes, Micrognathia, Absent ...	ORPHA:495875
Weismann-Netter Syndrome	Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Anterior tib...	OMIM:112350
Proteus-Like Syndrome	Genu recurvatum, Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, L...	ORPHA:2969
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla...	ORPHA:276608
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Genu valgum, Hematuria, Hypophosphatemia, Weight l...	OMIM:219800
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Lower limb asymmetry, Osteomalacia, Ricket...	ORPHA:289176
Microphthalmia With Limb Anomalies	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Postaxial foot polydactyly, Sho...	ORPHA:1106
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal mitochondrial shape, Increased variability in muscle fiber diameter, Abnormal renal coll...	ORPHA:17
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe...	OMIM:127300
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Lissencephaly, Failure to thrive, Polymicrogyria, Micrognathia, Cryptorchidism, Self-mutilation, ...	OMIM:604317
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Reduced social reciprocity	ORPHA:397933
Frasier Syndrome	Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Gonadal dysgenesis, Stage 5 chronic k...	OMIM:136680
Inverted Duplicated Chromosome 15 Syndrome	Precocious puberty, Unilateral renal agenesis, Gonadal dysgenesis, Hypogonadism, Tetralogy of Fal...	ORPHA:3306
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Polymicrogyria, Stage 5 ch...	OMIM:301006
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility...	ORPHA:91347
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
H Syndrome	Microcytic anemia, Hepatosplenomegaly, Psoriasiform dermatitis, Hernia, Pes planus, Abnormality o...	ORPHA:168569
Bent Bone Dysplasia Syndrome 2	Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe...	OMIM:620076
Brachydactyly Type A1	Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal...	ORPHA:93388
Borjeson-Forssman-Lehmann Syndrome	Small scrotum, Short toe, Hypogonadism, Decreased testicular size, Abnormal hip bone morphology, ...	ORPHA:127
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut...	ORPHA:859
Systemic Lupus Erythematosus 16	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, De...	OMIM:614420
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Elevated circulating parathyroid hormone level, Osteomalacia, Recurrent frac...	OMIM:613388
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia	OMIM:179830
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Decreased response to growth hormone stimulation test, Postnatal growth retardation, Abdominal ob...	OMIM:618160
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Pulmo...	ORPHA:567548
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Rickets, Osteomalacia, Joint stiffness, Micrognathia, Avascular necrosis of the capit...	ORPHA:1901
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Broad-based gait, Inability to walk, Obesity, Ataxia, Waddling gait	OMIM:616756
Schnitzler Syndrome	Increased bone mineral density, Arthritis	ORPHA:37748
Multiple Epiphyseal Dysplasia Type 4	Limitation of joint mobility, Radial bowing, Hypoplastic cervical vertebrae, Premature osteoarthr...	ORPHA:93307
Coenzyme Q10 Deficiency, Primary, 6	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:614650
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Uv-Sensitive Syndrome 3	Telangiectasia	OMIM:614640
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Recurrent upper respiratory tract infections, Recurrent otitis media, Cryptorchidism, Generalized...	ORPHA:589905
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Alopecia, Increased circulating cortisol level, Primary hypercortisolism, Dorsocervic...	OMIM:615830
Diamond-Blackfan Anemia 11	Finger aplasia, Bone marrow hypocellularity, Unilateral renal agenesis, Absent thumb, Unilateral ...	OMIM:614900
Morgagni-Stewart-Morel Syndrome	Obesity, Abnormality of the thyroid gland, Hypothyroidism, Osteoarthritis, Osteoporosis, Abnormal...	ORPHA:77296
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Osteopenia, Recurrent pneumonia, Failure to thrive, Hyperinsulinemia, Decreas...	OMIM:613327
Intellectual Developmental Disorder, X-Linked 12	Depression, Microphallus, Cryptorchidism, Joint hypermobility, Abnormality of neuronal migration,...	OMIM:300957
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Micromelia, Joint stiffness, Femoral bowing, Bowing of the long bones, Abnormal...	ORPHA:1860
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Precocious puberty, Hypotension, Increased circulating prolactin concentration, Hypopituitarism, ...	ORPHA:91354
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Hypoplastic left heart, Microretrognathia, Short tibia, Sandal gap, Short thumb...	ORPHA:1972
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Calvarial Doughnut Lesions With Bone Fragility	Osteoporosis, Osteopenia, Femoral bowing, Recurrent fractures	OMIM:126550
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur...	OMIM:620536
Alstrom Syndrome	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatic steatosis, Pes plan...	OMIM:203800
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Endometrial carcinoma, Ovarian cyst	ORPHA:454840
Autism Spectrum Disorder Due To Auts2 Deficiency	Joint contracture of the hand, Congenital contracture, Eczematoid dermatitis, Umbilical hernia, A...	ORPHA:352490
Digeorge Syndrome	Acne, Recurrent otitis media, Micrognathia, Hepatic steatosis, Ovarian cyst, Ventricular septal d...	OMIM:188400
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Osteogenesis Imperfecta, Type Xxi	Bowing of the arm, Joint hypermobility, Pes valgus, Pes planus, Coxa vara, Osteoporosis, Recurren...	OMIM:619131
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol response to insulin...	ORPHA:361
Autoimmune Lymphoproliferative Syndrome	Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He...	OMIM:601859
Mietens-Weber Syndrome	Elbow flexion contracture, Pes planus, Dislocated radial head, Forearm undergrowth, Absent proxim...	OMIM:249600
Donnai-Barrow Syndrome	Bicornuate uterus, Widow's peak, Abnormality of the uterus	ORPHA:2143
Hernández-Aguirre Negrete Syndrome	Obesity	ORPHA:2139
Osteopetrosis, Autosomal Recessive 1	Flared metaphysis, Pathologic fracture, Osteomyelitis, Femur fracture, Osteopetrosis, Calvarial o...	OMIM:259700
Seckel Syndrome 1	Ivory epiphyses, Clitoral hypertrophy, Pancytopenia, Micrognathia, Cryptorchidism, Talipes, Pes p...	OMIM:210600
Young Syndrome	Azoospermia	OMIM:279000
Stuve-Wiedemann Syndrome 1	Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti...	OMIM:601559
Bardet-Biedl Syndrome 3	External genital hypoplasia, Tricuspid regurgitation, Obesity	OMIM:600151
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Vesi...	OMIM:619217
Maternal Uniparental Disomy Of Chromosome X	Rocker bottom foot, Camptodactyly of finger, Congestive heart failure, Azoospermia, Low posterior...	ORPHA:261519
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula...	OMIM:602450
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Highly arched eyebrow, Broad thumb, Broad hallux, Insulin-resistant diabetes mellitus, Microcytic...	ORPHA:293967
Simpson-Golabi-Behmel Syndrome, Type 2	Obesity	OMIM:300209
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Obesity, Recurrent fractures, Proteinuria, Polyphagia, Delayed...	ORPHA:251004
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Bilateral renal atrophy, Ankle swelling, Carpal osteolysis, Wrist swelling, Metacarpa...	OMIM:166300
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Dysosteosclerosis	Short diaphyses, Osteopenia, Broad femoral neck, Absent paranasal sinuses, Flared metaphysis, Scl...	OMIM:224300
Simple Cryoglobulinemia	Chronic lymphatic leukemia, Weight loss, Abnormality of the kidney, Nephrotic syndrome, Abnormal ...	ORPHA:91139
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ...	OMIM:619510
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenom...	ORPHA:331206
Diffuse Neonatal Hemangiomatosis	Abnormal vagina morphology	ORPHA:2123
Wiskott-Aldrich Syndrome	Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine,...	ORPHA:906
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Osteoporosis, Cone-shaped epiphysis	ORPHA:71267
Alg6-Cdg	Hypoalbuminemia, Failure to thrive, Puberty and gonadal disorders, Abnormality of the liver, Decr...	ORPHA:79320
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa...	OMIM:112250
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia...	OMIM:610725
Osebold-Remondini Syndrome	Mesomelia, Short toe, Short tibia, Carpal synostosis, Type A brachydactyly, Radial deviation of f...	OMIM:112910
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy...	OMIM:157640
Camptobrachydactyly	Septate vagina	OMIM:114150
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Loss of subcutaneous adipose tissue from upper limbs, Loss of facial adipose tissue, Proteinuria,...	OMIM:613913
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity	OMIM:300471
Activated Pi3K-Delta Syndrome	Splenomegaly, Lymphadenopathy, B lymphocytopenia, Decreased circulating antibody level, Increased...	ORPHA:397596
Cenani-Lenz Syndactyly Syndrome	Renal hypoplasia, Renal agenesis, Broad hallux, Micrognathia, Radioulnar synostosis, Pulmonic ste...	OMIM:212780
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Antineutrophil antibody positiv...	ORPHA:99931
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Renal hypoplasia, Eczematoid dermatitis, Patellar hypoplasia, Obesity, Vesicoureteral reflux, Cry...	ORPHA:464288
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Short femoral neck, Knee dislocation, Obesity, Joint hypermobility, Carpal bone hypoplasia, Pes p...	OMIM:618395
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Pallister-Hall Syndrome	Small scrotum, Toe syndactyly, Broad thumb, Radial bowing, Hydrometrocolpos, Hypopituitarism, Pol...	ORPHA:672
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Short Syndrome	Insulin resistance, Abnormal dental enamel morphology, Inguinal hernia, Lipodystrophy, Weight los...	ORPHA:3163
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Nephrocalcinosis, Obesity, Cryptorchidism, Postaxial polydactyly, Brachydactyly, Short long bone,...	OMIM:615633
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Short femoral neck, Camptodactyly of finger, Camptodactyly of toe, K...	ORPHA:2848
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Abnormal oral glucose tolerance, ...	ORPHA:276580
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Self-injurious behavior, Enuresis, Inflexible adherence to routines, Failure to thrive in infancy...	OMIM:613670
Bardet-Biedl Syndrome 17	Postaxial foot polydactyly, Polydipsia, Hypogonadism, Mesoaxial hand polydactyly, Obesity, Stage ...	OMIM:615994
Atypical Werner Syndrome	Aortic valve stenosis, Aortic valve calcification, Limitation of joint mobility, Insulin-resistan...	ORPHA:79474
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Abnormal vertebral morphology, Renal hypoplasia, Fine hair, Recurrent hypoglycemia, Micrognathia,...	OMIM:616817
Systemic Sclerosis	Chronic kidney disease, Intestinal bleeding, Finger swelling, Telangiectasia, Glomerulonephritis,...	ORPHA:90291
Congenital Myopathy 9A	Obesity, Cryptorchidism	OMIM:618822
Peutz-Jeghers Syndrome	Intestinal bleeding, Uterine neoplasm, Bladder polyp, Abnormality of the ureter, Neoplasm of the ...	OMIM:175200
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Self-injurious behavior, Symphalangism of the thumb, Short toe, Clinodactyly, Recurrent urinary t...	OMIM:620494
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Short thumb, Supernumerary nipple, Abnormal foot morphology, Microgna...	OMIM:263750
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity, Osteoarthritis	ORPHA:2206
Gangliocytoma	Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor...	ORPHA:251937
Immunodeficiency 23	Allergic rhinitis, Ataxia, Failure to thrive, Eczematoid dermatitis, Chronic mucocutaneous candid...	OMIM:615816
Thalidomide Embryopathy	Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi...	ORPHA:3312
Bardet-Biedl Syndrome 9	Irregular menstruation, Hyperglycemia, Obesity, Truncal obesity	OMIM:615986
X-Linked Intellectual Disability, Shashi Type	Obesity, Macroorchidism	ORPHA:85286
Gapo Syndrome	Abnormal pelvic girdle bone morphology, Umbilical hernia, Hypogonadism, Micrognathia, Nephrolithi...	ORPHA:2067
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Obesity, Irritability, Aggressi...	ORPHA:3077
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Polyphagia, Hyperinsulinemia, Obesity	OMIM:617885
Atkin-Flaitz Syndrome	Obesity, Macroorchidism	ORPHA:1193
Van Bogaert-Hozay Syndrome	Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia	OMIM:277150
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Uterus didelphys, Short tibia, Preaxial polydactyly, Tetralogy of Fallot, Septate vagina, Microgn...	OMIM:617925
46,Xy Ovotesticular Difference Of Sex Development	Abnormality of the male genitalia, Bifid scrotum, Perineal hypospadias, Abnormal labia morphology...	ORPHA:325345
Tonne-Kalscheuer Syndrome	Self-injurious behavior, Broad-based gait, Broad thumb, Abnormal heart morphology, Decreased test...	OMIM:300978
Tricho-Dento-Osseous Syndrome	Increased bone mineral density, Finger clinodactyly	ORPHA:3352
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia...	OMIM:613502
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Boomerang Dysplasia	Finger syndactyly, Micromelia, Decreased response to growth hormone stimulation test, Abnormal ti...	ORPHA:1263
Immunodeficiency 95	Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r...	OMIM:619773
Pseudohypoparathyroidism Type 1B	Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease...	ORPHA:94089
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St...	ORPHA:656
Autosomal Dominant Hypophosphatemic Rickets	Bowing of the legs, Rickets, Osteomalacia	ORPHA:89937
Multiple Synostoses Syndrome 1	Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l...	OMIM:186500
Macrocephaly/Autism Syndrome	Recurrent otitis media, Lymphopenia, Obesity, Penile freckling, Decreased circulating antibody le...	OMIM:605309
Tatton-Brown-Rahman Syndrome	Neuroendocrine neoplasm, Short toe, Widely spaced toes, Umbilical hernia, Obesity, Cryptorchidism...	ORPHA:404443
Hypophosphatemic Rickets And Hyperparathyroidism	Hyperparathyroidism, Rickets, Elevated circulating parathyroid hormone level, Hypophosphatemic ri...	OMIM:612089
Clark-Baraitser syndrome	Genu recurvatum, Tall stature, Obesity, Genu valgum, Joint hypermobility, Macroorchidism, Broad p...	OMIM:300602
Nephrotic Syndrome, Type 12	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616892
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Moderate albuminuria, Ketonuria, Pancreatic hypopla...	ORPHA:99885
X-Linked Hypophosphatemia	Flattening of the talar dome, Upper limb metaphyseal widening, Shortening of the talar neck, Rick...	ORPHA:89936
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, Decreased ci...	OMIM:614069
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Depression, Cranial hyperostosis, Pulmonary fibrosis, Decreased response to growth hormone stimul...	ORPHA:457240
Galloway-Mowat Syndrome 3	Failure to thrive, Micrognathia, Stage 5 chronic kidney disease, Arachnodactyly, Proteinuria, Dif...	OMIM:617729
Bruck Syndrome 1	Ankle flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures, Knee...	OMIM:259450
Pseudopseudohypoparathyroidism	Pseudohypoparathyroidism, Brachydactyly, Osteoporosis, Short metatarsal, Short metacarpal	OMIM:612463
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero...	OMIM:256370
Hypoplasminogenemia	Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis	ORPHA:722
Wagro Syndrome	Hypoplastic female external genitalia, Decreased testicular size, Obesity, Micrognathia, Emotiona...	OMIM:612469
Prader-Willi Syndrome Due To Translocation	Small hand, Clinodactyly, Overlapping toe, Micrognathia, Pes planus, Anterior pituitary hypoplasi...	ORPHA:177907
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Recurrent lower re...	OMIM:619220
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S...	OMIM:201250
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Laurence-Moon Syndrome	Micropenis, Small scrotum, Obesity	OMIM:245800
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Ulnar Hypoplasia With Impaired Intellectual Development	Talipes equinovarus, Limitation of knee mobility, Bilateral ulnar hypoplasia, Limited elbow movement	OMIM:276821
C1Q Deficiency 1	Decreased circulating complement factor I concentration, Autoimmunity, Membranoproliferative glom...	OMIM:613652
Free Sialic Acid Storage Disease	Abnormal foot morphology, Failure to thrive in infancy, Splenomegaly, Proteinuria, Gait disturban...	ORPHA:834
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Micrognathia, Osteopetrosis, Clinodactyly of the 5th finger	OMIM:617306
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility, Abnormal lymph node morphology	OMIM:136580
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Nephritis, Unilateral renal atrophy, Pyelonephritis, Cryptorchidism, Oligozoospermia, Torticollis...	OMIM:314300
Immunodeficiency 9	Decreased circulating IgG level, Failure to thrive, Difficulty walking, Lymphopenia, Decreased ci...	OMIM:612782
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi...	OMIM:301081
Neutropenia, Chronic Familial	Neutropenia, Increased circulating antibody level	OMIM:162700
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Premature ovarian insufficiency, Arrhythmia, Truncal obesity	ORPHA:2928
Pituitary Dermoid And Epidermoid Cysts	Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism...	ORPHA:91351
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Female infertility, Goiter	OMIM:617577
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno...	OMIM:607271
Glycogen Storage Disease Vi	Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Increased hepatic glycogen content, H...	OMIM:232700
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae	Reduced social reciprocity	OMIM:617051
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Obesity, Glu...	OMIM:219090
Ulna Hypoplasia-Intellectual Disability Syndrome	Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Joint stiffness...	ORPHA:2249
Treacher-Collins Syndrome	Small scrotum, Branchial fistula, Failure to thrive, Abnormal dental enamel morphology, Micrognat...	ORPHA:861
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome...	OMIM:618594
13Q12.3 Microdeletion Syndrome	Atopic dermatitis, Failure to thrive, Recurrent respiratory infections, Obesity, Congenital diaph...	ORPHA:412035
Megalencephaly	Macroorchidism, Long penis, Truncal obesity	ORPHA:2477
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Precocious puberty, Small hand, Clinodactyly, Abnormal heart morphology, Obesity, Micrognathia, A...	ORPHA:254525
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi...	ORPHA:2879
Thyroid Hormone Metabolism, Abnormal, 2	Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero...	OMIM:619855
Cockayne Syndrome Type 1	Male hypogonadism, Foot joint contracture, Failure to thrive, Difficulty walking, Renal insuffici...	ORPHA:90321
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga...	OMIM:615592
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Beaulieu-Boycott-Innes Syndrome	Premature ovarian insufficiency, High anterior hairline, Endometriosis	OMIM:613680
Majeed Syndrome	Inflammatory abnormality of the skin, Synovitis, Pustule, Cachexia, Weight loss, Hepatomegaly, Os...	ORPHA:77297
Sting-Associated Vasculopathy, Infantile-Onset	Pustular rash, Lymphopenia, Follicular hyperplasia, Pustule, Antiphospholipid antibody positivity...	OMIM:615934
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Short humerus, Lateral femoral bowing, Bowing of the ...	OMIM:239000
Mccune-Albright Syndrome	Precocious puberty, Craniofacial hyperostosis, Hyperparathyroidism, Pituitary adenoma, Increased ...	OMIM:174800
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, 2-4 toe syndactyly, Nephroblastoma, Overgrowth, Telangiectasia of the skin, Seborrh...	ORPHA:276280
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Pes planus, Medi...	OMIM:251450
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Increased red blood cell count, Myocardial necrosis, Ataxia, Granuloma, Intrarenal abs...	ORPHA:68
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
X-Linked Acrogigantism	Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop...	ORPHA:300373
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Recurrent pneumonia, Proximal femoral metaphyseal irregularity, Splenomegaly, Narrow ...	OMIM:602271
Osteopetrosis, Autosomal Recessive 2	Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Genu valgum, Osteopetrosis, Decrea...	OMIM:259710
Citrullinemia Type Ii	Abnormal eating behavior, Hepatic steatosis, Hepatomegaly, Restlessness, Mania, Hypoproteinemia, ...	ORPHA:247585
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig...	OMIM:608106
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria, Clinodactyly of the 5th finger, Gait disturbance	ORPHA:2820
Ring Chromosome 21 Syndrome	Small hand, Clinodactyly, Abnormal heart morphology, Azoospermia, Decreased circulating antibody ...	ORPHA:1445
Prolactinoma	Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon...	ORPHA:2965
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Crypto...	ORPHA:93322
Spondyloepiphyseal Dysplasia, Maroteaux Type	Genu valgum, Pes planus, Generalized osteoporosis, Small joint hypermobilty, Short femoral neck, ...	OMIM:184095
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Abnormal hair whorl, Inguinal hernia, Aplasia of the vagina	ORPHA:457284
Duane-Radial Ray Syndrome	Ventricular septal defect, Aplasia of metacarpal bones, Pes planus, Atrial septal defect, Small t...	OMIM:607323
Bruck Syndrome 2	Osteopenia, Elbow flexion contracture, Femoral bowing, Increased susceptibility to fractures, Kne...	OMIM:609220
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Flat acetabular roof, Short distal phalanx of the 5t...	OMIM:271700
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Finger swelling, Osteomalacia, Genu valgum, Cryptorchidism, Proxim...	OMIM:309000
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Obesity, Mitral regurgitation, Pulmonary arterial hypertension, Overweight	OMIM:614651
Idiopathic Juvenile Osteoporosis	Osteoporosis, Recurrent fractures	ORPHA:85193
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Larg...	ORPHA:276575
Coenzyme Q10 Deficiency, Primary, 1	Focal segmental glomerulosclerosis, Hypertrophic cardiomyopathy, Pancytopenia, Elevated circulati...	OMIM:607426
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Adrenal insufficiency, Obesity, Decreased ...	OMIM:609734
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Epiphyseal stippling, Increased...	OMIM:256550
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial...	OMIM:276820
Cerebral Cavernous Malformations 2	Telangiectasia, Cerebral hemorrhage	OMIM:603284
Mucopolysaccharidosis-Plus Syndrome	Atrial septal defect, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesicular hepatic steat...	OMIM:617303
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Systemic lupus erythematosus, Micrognathia, Absent gallbladder,...	ORPHA:3310
Bacterial Toxic-Shock Syndrome	Cellulitis, Abscess, Glomerulonephritis, Recurrent skin infections, Osteomyelitis, Elevated circu...	ORPHA:36234
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Glycosuria, Beta 2-microglobulinuria, Failure...	ORPHA:97362
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Hand clenching, Slender finger, Joint contracture of the hand...	OMIM:251300
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Micrognathia, Clinodactyly, Decreased body weight	ORPHA:357175
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Increased circulating cortisol level, Decreased circulating ACTH concentration, Macro...	OMIM:219080
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Type I diabetes mellitus, Rickets	OMIM:560000
Systemic Lupus Erythematosus	Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Pleuritis, Antinuclear antibody ...	OMIM:152700
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ...	OMIM:618495
Immunodeficiency 17	Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Chronic decreased circu...	OMIM:615607
Insulin-Like Growth Factor I Deficiency	Osteopenia, Postnatal growth retardation, Decreased body weight, Decreased serum insulin-like gro...	OMIM:608747
Nephrotic Syndrome, Type 8	Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei...	OMIM:615244
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Premature ovarian insufficiency, Obesity	OMIM:618124
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Microretrognathia, Knee dislocation, Small epiphyses, Micrognathia, Genu valgum, Inguinal hernia,...	OMIM:618363
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Micrognathia, Clinodactyly, Decreased body weight	OMIM:615162
Distal Limb Deficiencies-Micrognathia Syndrome	Renal hypoplasia, Aplasia/Hypoplasia of the radius, Microretrognathia, Abnormality of the ankle, ...	ORPHA:1307
Mesangial sclerosis, diffuse renal, with ocular abnormalities	Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency	OMIM:249660
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Rhyns Syndrome	Osteopenia, Radial bowing, Decreased response to growth hormone stimulation test, Brachydactyly, ...	OMIM:602152
Joubert Syndrome 37	Decreased testicular size, Obesity, Cryptorchidism, Joint hypermobility, Hydronephrosis, Postaxia...	OMIM:619185
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Single transverse palm...	OMIM:227270
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Cutis Laxa, Autosomal Recessive, Type Ic	Micrognathia, Osteopenia, Multiple bladder diverticula, Tracheomalacia, Inguinal hernia, Recurren...	OMIM:613177
Smith-Kingsmore Syndrome	Short distal phalanx of finger, Rhizomelia, Deep plantar creases, Hypoglycemia, Large for gestati...	OMIM:616638
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Congenital pulmonary airway malformation, Lymphopenia, Psoriasiform dermatitis, Leukocytosis, Aut...	OMIM:243150
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Clinodactyly, Enlarged labia minora, Micrognathia, Cryptorchidism, Ventricu...	OMIM:268300
Wiskott-Aldrich Syndrome 2	Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati...	OMIM:614493
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Branchial cyst, Ventricular septal defect, Talipes, Pes planus, Shor...	ORPHA:508488
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Restrictive cardiomyopathy, Micrognathia, Atrial septal defect, Hypoparathyroidism, Renal dysplas...	ORPHA:369837
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Large ...	ORPHA:276556
Meckel Syndrome 14	Hepatic fibrosis, Pulmonary hypoplasia, Postaxial foot polydactyly, Microretrognathia, Occipital ...	OMIM:619879
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Hyperglycemia, Hyp...	OMIM:248370
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo...	OMIM:615861
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Osteopenia, Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medulla...	OMIM:611555
Hand-Foot-Genital Syndrome	Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Hypospadias, S...	ORPHA:2438
Duplication Of The Pituitary Gland	Abnormality of the plantar skin of foot, Encephalocele, Self-mutilation, Decreased body weight, A...	ORPHA:314621
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
46,Xx Sex Reversal 4	Clitoral hypertrophy, Gonadal dysgenesis, Ovotestis, Ambiguous genitalia, Penoscrotal hypospadias...	OMIM:617480
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Mesangial hypercellularity, Ant...	OMIM:616414
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Bruck Syndrome	Joint stiffness, Bowing of the long bones, Talipes equinovarus, Osteoporosis, Arthrogryposis mult...	ORPHA:2771
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Psoriasiform...	ORPHA:2237
Gitelman Syndrome	Type II diabetes mellitus, Rhabdomyolysis, Parathyroid adenoma, Urinary incontinence, Ventricular...	ORPHA:358
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti...	OMIM:606367
Lumbar Syndrome	Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u...	ORPHA:83628
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia, Syndactyly, Short tibia, Polydactyly	OMIM:300484
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Bardet-Biedl Syndrome 20	Male hypogonadism, Bilateral cryptorchidism, Preaxial foot polydactyly, Obesity, Proteinuria, 2-3...	OMIM:619471
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Cushing Disease	Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Adrenal hype...	ORPHA:96253
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Postaxial Acrofacial Dysostosis	Finger syndactyly, Supernumerary nipple, Camptodactyly of finger, Micrognathia, Hypoplasia of the...	ORPHA:246
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating copper concentration, Pulmonary hypoplasia, Short tibia, Abnormal circulatin...	OMIM:620306
Interstitial Cystitis	Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspareunia, Abnormal vagina morph...	ORPHA:37202
Helsmoortel-Van Der Aa Syndrome	Small hand, Genu valgum, Cryptorchidism, Mitral valve prolapse, Polyphagia, Pes planus, Atrial se...	OMIM:615873
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Claw hand deformity, Pes cavu...	OMIM:614455
46,Xy Sex Reversal 8	Male pseudohermaphroditism, Ambiguous genitalia, Cryptorchidism, Sex reversal	OMIM:614279
Nephrotic Syndrome, Type 15	Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5...	OMIM:617609
Subacute Inflammatory Demyelinating Polyneuropathy	Absent patellar reflexes, Limited elbow flexion, Difficulty walking, Limited hip movement, Limita...	ORPHA:206594
Waardenburg Syndrome, Type 1	Premature graying of hair, Thick eyebrow, White forelock, Aplasia of the vagina, White eyebrow, W...	OMIM:193500
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Absent thumb, Bruising susceptibility, Short thumb, Male infertilit...	OMIM:227650
Proteinuria, Chronic Benign	Proteinuria, Albuminuria, Renal insufficiency	OMIM:618884
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clitoral hypertrophy, Toe syndactyly, Valvular pulmonary stenosis, Bilateral talipes equinovarus,...	OMIM:300707
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Toe syndactyly, Xerostomia, Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen duc...	OMIM:604292
Gaucher Disease Type 1	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Increased circulating antibody level, Hematuria,...	ORPHA:77259
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Lethal Congenital Contracture Syndrome 10	Stiff neck, Overlapping fingers, Micrognathia, Femoral bowing, Ventricular septal defect, Cardiom...	OMIM:617022
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Pseudopseudohypoparathyroidism	Obesity, Ectopic ossification	ORPHA:79445
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Type I diabetes mellitus, Hypoplasia of the odontoid process, Hip dislocati...	OMIM:226980
Fanconi Anemia, Complementation Group F	Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Absent thumb, Short thumb, Microphallus...	OMIM:603467
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy, Premature graying of hair, Decreased response to growth hormone stimulati...	ORPHA:280679
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity	ORPHA:276630
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Chronic kidney disease, Renal insufficiency, Abnormal renal glomerulus morphology, Reduced subcut...	OMIM:137940
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Ventricular hypertrophy, Elbow dislocation, Genu valgum, Bilateral single ...	OMIM:143095
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti...	ORPHA:2634
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Hypogl...	ORPHA:137675
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Shallow acetabular fossae, Giant platelets, Micrognathia, Cryptorchidism, Talipes equ...	OMIM:611209
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Patellar aplasia, Perineal fistula,...	OMIM:218600
Martin-Probst Syndrome	Bifid scrotum, Pancytopenia, Micrognathia, Renal insufficiency, Cryptorchidism, Telangiectasia, P...	OMIM:300519
Preeclampsia/Eclampsia 1	Proteinuria, Thrombocytopenia	OMIM:189800
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm...	OMIM:619755
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Endocardial fibrosis, Absence of lymph...	OMIM:235550
Cockayne Syndrome A	Limitation of joint mobility, Square pelvis bone, Hypoplastic iliac wing, Cryptorchidism, Hip con...	OMIM:216400
Cystinosis	Nephropathy, Aminoaciduria, Type I diabetes mellitus, Rickets, Failure to thrive, Polydipsia, Ren...	ORPHA:213
46,Xy Sex Reversal 10	Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t...	OMIM:616425
Dystonia 30	Loss of ambulation, Aggressive behavior, Hypothalamic hamartoma, Compulsive behaviors, Impulsivity	OMIM:619291
Stüve-Wiedemann Syndrome	Osteopenia, Absent patellar reflexes, Limitation of joint mobility, Micromelia, Camptodactyly of ...	ORPHA:3206
Cornelia De Lange Syndrome 1	Micrognathia, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Hypopla...	OMIM:122470
Lipoprotein Glomerulopathy	Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Fanconi Anemia, Complementation Group O	Absent thumb, Short thumb, Abnormal heart morphology, External genital hypoplasia, Stage 5 chroni...	OMIM:613390
Pachydermoperiostosis	Small hand, Clubbing of toes, Limitation of joint mobility, Palmoplantar keratoderma, Abnormal ep...	ORPHA:2796
Celiac Disease, Susceptibility To, 1	Ataxia, Type I diabetes mellitus, Depression, Rickets, Failure to thrive, Eczematoid dermatitis, ...	OMIM:212750
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Failure to thrive, Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circul...	OMIM:613038
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Failure to thrive, H...	ORPHA:2473
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis	OMIM:615085
Dysostosis, Stanescu Type	Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Bowing of the ...	ORPHA:1798
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Splenomegaly, Inc...	OMIM:619868
Gaucher Disease	Aortic valve calcification, Decreased HDL cholesterol concentration, Pancytopenia, Increased circ...	ORPHA:355
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen...	OMIM:242700
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Foot oligodactyly, Amelia, Short femur	OMIM:601357
Pmm2-Cdg	Increased circulating prolactin concentration, Aspiration pneumonia, Hyperinsulinemia, Aplasia of...	ORPHA:79318
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Abnormal temper tantrums, Small hand, Dilated third ventricle, Failure to thrive, Hypogonadism, C...	ORPHA:500055
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Abnormal morpholog...	OMIM:193670
Ohdo Syndrome	Small scrotum, Sparse eyebrow, Abnormal foot morphology, Micrognathia, Cryptorchidism, Joint hype...	OMIM:249620
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Arrhythmia, Pancreatic islet cell adenoma, Elevated circula...	ORPHA:892
Catel-Manzke Syndrome	Hyperphalangy of the 2nd finger, Short toe, Ulnar deviation of the 2nd finger, Thin eyebrow, Genu...	OMIM:616145
Camurati-Engelmann Disease	Limitation of joint mobility, Abnormal tibia morphology, Slender build, Genu valgum, Cachexia, Pe...	ORPHA:1328
Crimean-Congo Hemorrhagic Fever	Morbilliform rash, Pancytopenia, Emotional lability, Hematuria, Erythema nodosum, Neutrophilia, H...	ORPHA:99827
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H...	OMIM:620211
Melas	Nephropathy, Type II diabetes mellitus, Myopathy, Hypoparathyroidism, Focal segmental glomerulosc...	ORPHA:550
Cri-Du-Chat Syndrome	Microretrognathia, Small for gestational age, Difficulty walking, Oppositional defiant disorder, ...	OMIM:123450
Orofaciodigital Syndrome I	Sparse hair, Alopecia, Microretrognathia, Dry hair, Clinodactyly, Radial deviation of finger, Hep...	OMIM:311200
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Abnormality of the male genitalia, Hyperbilirubinemia, Abnormal cortical bone mor...	OMIM:614886
Lesch-Nyhan Syndrome	Testicular atrophy	OMIM:300322
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Abnormal lung lobation, Abnormal heart morphology, Micrognathia, Congenital ...	OMIM:263210
Epiphyseal Dysplasia, Baumann Type	Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Joint hypermob...	OMIM:610797
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteoporosis, Osteopenia, Increased susceptibility to fractures	OMIM:612287
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary am...	OMIM:612702
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Broad thumb, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventr...	ORPHA:251071
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short toe, Micromelia, Short tibia, Aplasia of the middle phalanges o...	ORPHA:2098
Kleefstra Syndrome	Limitation of joint mobility, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, He...	ORPHA:261494
2Q23.1 Microdeletion Syndrome	Self-injurious behavior, Ataxia, Sandal gap, Cryptorchidism, Polyphagia, Motor stereotypy, Hypera...	ORPHA:228402
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome	Craniosynostosis, Forearm undergrowth, Renal dysplasia, Lower limb undergrowth	OMIM:218650
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Azoospermia, Splenomegaly, Hypo...	OMIM:602390
Cog4-Cdg	Recurrent upper respiratory tract infections, Failure to thrive in infancy, Hepatosplenomegaly, I...	ORPHA:263501
Insulinoma	Abnormality of the pancreatic islet cells, Pituitary prolactin cell adenoma, Recurrent hypoglycem...	ORPHA:97279
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Systemic lupus erythematosus, Lymphopenia, Dark urine, Hematur...	ORPHA:93552
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Broad thumb, Cryptorchidism, Emotional lability, Ventricular septal defect...	ORPHA:353281
Nail-Patella Syndrome	Patellar aplasia, Hematuria, Talipes equinovarus, Pes planus, Disproportionate prominence of the ...	OMIM:161200
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Pancytopenia, Decreased ...	OMIM:618394
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, L...	ORPHA:45452
Townes-Brocks Syndrome 2	Bifid uterus, Rectovaginal fistula, Hypospadias	OMIM:617466
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Abnormal hair whorl, Broad hallux, Horseshoe kidney, Nail dystrophy, Hirsutism, 2-3 toe syndactyl...	OMIM:300860
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Thick eyebrow, Low posterior hairline, Thick hair, Truncal obesity, Synophrys	ORPHA:2429
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:614199
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone...	ORPHA:85327
Summitt Syndrome	Craniosynostosis, Obesity, Tall stature, Camptodactyly of finger	ORPHA:3210
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Alopecia, Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentr...	OMIM:620651
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Recurrent otitis media, Pulmonary situs ambiguus, Chronic otitis media, C...	ORPHA:244
Ulnar Hypoplasia-Split Foot Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot	ORPHA:1122
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal...	ORPHA:276
Limb-Mammary Syndrome	Alopecia, Toe syndactyly, Absent nipple, Blepharitis, Sparse eyebrow, Oligodactyly, Breast aplasi...	ORPHA:69085
Pseudoleprechaunism Syndrome, Patterson Type	Premature adrenarche, Long foot, Metaphyseal sclerosis, Genu valgum, Delayed pubic bone ossificat...	ORPHA:2976
Dent Disease	Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Renal hypophosp...	ORPHA:1652
Cohen Syndrome	Finger syndactyly, Sandal gap, Failure to thrive in infancy, Abnormal hip bone morphology, Microg...	ORPHA:193
Acro-Renal-Ocular Syndrome	Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Renal hyp...	ORPHA:959
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Recurrent otitis media, Micrognathia, Hepatic steatosis, Ventricular septal de...	OMIM:619525
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Hyperinsulinemia, Hypophosphatemic rickets, Large for gestational age, Hypoketotic hy...	ORPHA:263455
Hypothyroidism, Congenital, Nongoitrous, 6	Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Omphalocele, Increased b...	OMIM:614450
Syndromic Diarrhea	Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial ...	ORPHA:84064
Fixed Drug Eruption	Vaginal mucosal ulceration	ORPHA:293812
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Wolf-Hirschhorn Syndrome	Micrognathia, Cryptorchidism, Ventricular septal defect, Radioulnar synostosis, Talipes equinovar...	OMIM:194190
Complement Component 4A Deficiency	Decreased circulating complement C4 concentration, Glomerulonephritis, Reduced circulating CH50 a...	OMIM:614380
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Abnormal circulating selenium concentration, IgA deposition in the glomer...	ORPHA:79408
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Limitation of joint m...	ORPHA:740
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia	OMIM:615966
Microtriplication 11Q24.1	Small hand, Limitation of joint mobility, Bruxism, Obesity, Genu valgum, Hyperlipidemia, Talipes ...	ORPHA:289522
Distal Deletion 12Q	Overlapping toe, Micrognathia, Obsessive-compulsive trait, Large hands, Ectopic kidney, Polycysti...	ORPHA:96149
Mckusick-Kaufman Syndrome	Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, Vaginal atresia, Polycystic kidney d...	OMIM:236700
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Renal hypoplasia, Absent thumb, Short 1st metacarpal, Short thumb, D...	OMIM:609053
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Finger syndactyly, Cryptorchidism, Elbow ankylosis, Abnormal metaca...	ORPHA:2658
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Arthrogryposis-like hand anomaly, Clinodactyly, Umbilical hernia, Abnormal foot morphology, Abnor...	ORPHA:369891
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Type II diabetes me...	OMIM:210720
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Joint stiffness...	OMIM:620210
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ...	ORPHA:52056
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility, Failure to thrive	OMIM:619518
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Microretrognathia, Aplasia/Hypoplasia of ...	ORPHA:1788
Pycnodysostosis	Aplastic clavicle, Micrognathia, Absent frontal sinuses, Brachydactyly, Narrow iliac wing, Increa...	OMIM:265800
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Failure to thrive, Abnormal heart morphology, Obesity, Micrognathia...	ORPHA:261197
Fg Syndrome Type 1	Broad-based gait, Finger syndactyly, Clinodactyly of the 2nd finger, Slender build, Micrognathia,...	ORPHA:93932
Meacham Syndrome	Abnormal vagina morphology, Hydrometrocolpos, Cryptorchidism, Congenital diaphragmatic hernia, Am...	ORPHA:3097
Omodysplasia 1	Rhizomelia, Short tibia, Limited knee flexion/extension, Limited elbow flexion, Umbilical hernia,...	OMIM:258315
Kleefstra Syndrome 1	Recurrent respiratory infections, Obesity, Conotruncal defect, Cryptorchidism, Single transverse ...	OMIM:610253
Peutz-Jeghers Syndrome	Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Abnormality of the ureter, Enlarged polyc...	ORPHA:2869
Atypical Hemolytic Uremic Syndrome	Decreased circulating complement factor B concentration, Acute kidney injury, Abnormality of comp...	ORPHA:2134
Holoprosencephaly	Abnormality of the spleen, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal de...	ORPHA:2162
Pallister-Hall-Like Syndrome	Hip dislocation, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Renal dysplasia, Occipit...	OMIM:241800
Rafiq Syndrome	Obesity, Joint hypermobility, Truncal obesity, Ataxia, Flexion contracture	OMIM:614202
Mietens Syndrome	Elbow dislocation, Joint stiffness, Avascular necrosis of the capital femoral epiphysis, Talipes,...	ORPHA:2557
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Precocious puberty, Abnormal epiphysis morphology, Micromelia, Narrow pelvis bone, Recurrent resp...	ORPHA:2637
Renal Nutcracker Syndrome	Varicocele, Renal artery stenosis, Dysmenorrhea, Hematuria, Proteinuria, Vulval varicose vein, Sy...	ORPHA:71273
Leukoencephalopathy With Dystonia And Motor Neuropathy	Focal T2 hyperintense thalamic lesion, Azoospermia, Elevated circulating pristanic acid concentra...	OMIM:613724
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Toe syndactyly, Xerostomia, Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen duc...	OMIM:129900
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic valve stenosis, Depression, Failure to thrive, Tetralogy of Fallot, Obesity, Vesicouretera...	ORPHA:96147
Nail-Patella Syndrome	Thickened glomerular basement membrane, Equinovarus deformity, Talipes calcaneovalgus, Abnormal t...	ORPHA:2614
Intellectual Disability-Strabismus Syndrome	Joint contracture of the hand, Limitation of joint mobility, Recurrent otitis media, Micrognathia...	ORPHA:363528
Rhizomelic Limb Shortening With Dysmorphic Features	Short 5th finger, Rhizomelia, Prominent fingertip pads, Stage 1 chronic kidney disease, Short thu...	OMIM:618821
Nephronophthisis 15	Obesity	OMIM:614845
Ehlers-Danlos Syndrome, Classic-Like, 1	Ambiguous genitalia, female, Bicornuate uterus	OMIM:606408
Monosomy 13Q34	Insulin resistance, Hematochezia, Epistaxis, Postaxial foot polydactyly, Horizontal eyebrow, Obes...	ORPHA:96168
Radio-Tartaglia Syndrome	Precocious puberty, Obesity, Micrognathia, Pes cavus, Gait imbalance, Ventricular septal defect, ...	OMIM:619312
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Limitation of joint mobility, Carpal osteolysis, Slender long bone, Camptodactyly of...	ORPHA:2774
Hydrolethalus Syndrome 1	Accessory spleen, Abnormal cortical gyration, Abnormal vagina morphology, Preaxial hand polydacty...	OMIM:236680
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Anti-Sm antibody positivity, Lup...	OMIM:620376
Camurati-Engelmann Disease	Sclerosis of skull base, Genu valgum, Cortical thickening of long bone diaphyses, Increased bone ...	OMIM:131300
Angelman Syndrome	Self-injurious behavior, Broad-based gait, Precocious puberty in females, Inability to walk, Dela...	ORPHA:72
Smith-Lemli-Opitz Syndrome	Small scrotum, Postaxial foot polydactyly, Talipes calcaneovalgus, Recurrent otitis media, Overla...	OMIM:270400
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent hypoglycemia, Recurrent otitis media, Alopecia totalis, Psoriasiform dermatitis, Autoim...	ORPHA:293978
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Increased circulating IgE level, Recurrent otitis media, Decreased proportion ...	OMIM:243700
Marbach-Rustad Progeroid Syndrome	Insulin resistance, Reduced subcutaneous adipose tissue, Intention tremor	OMIM:619322
Cntnap2-Related Developmental And Epileptic Encephalopathy	Precocious puberty, Abnormal temper tantrums, Preaxial polydactyly, Obesity, Pes cavus, Low frust...	ORPHA:163681
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity	OMIM:618725
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Cholestatic liver disease, Gl...	OMIM:613404
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Nephronophthisis, Cholestasis, Obesity, Genu valgum, Gl...	OMIM:615630
Alagille Syndrome 1	Cholestasis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Duplicated collecting sy...	OMIM:118450
Van Den Ende-Gupta Syndrome	Joint contracture of the hand, Hypoplastic scapulae, Dilatation of the renal pelvis, Long metacar...	OMIM:600920
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polysyndactyly of hallux, Hepatic fibrosis, Postaxial polysyndactyly of foot, Preaxial hand polyd...	OMIM:263520
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Inflammatory abnormality of the skin, Xerostomia, Hematuria, Neutropenia, Abnormal penis morpholo...	ORPHA:95455
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo...	OMIM:618999
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Micrognathia, Cryptorchidism, Decreased body weight, Talipes equinovarus, Large hands, Restlessne...	OMIM:300534
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Congenital hypothyroidism, Obesity, Horizontal eyebrow, Synophrys	ORPHA:352530
19P13.3 Microduplication Syndrome	Precocious puberty, Self-injurious behavior, Clinodactyly, Micrognathia, Pes cavus, Irritability,...	ORPHA:447980
Immunodeficiency 116	Recurrent respiratory infections, Bronchiectasis, Absence of CD8-positive T cells	OMIM:608957
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Obesity, Vesicoureteral reflux, Cryptorchi...	OMIM:615926
Renal Agenesis	Unilateral renal agenesis, Absent vas deferens, Renal agenesis, Aplasia/hypoplasia of the uterus,...	ORPHA:411709
Chromosome 2Q37 Deletion Syndrome	Self-injurious behavior, Short toe, Eczematoid dermatitis, Type E brachydactyly, Obesity, Stereot...	OMIM:600430
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Hypoglycemia, Recurrent urinary tract infec...	OMIM:612783
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormality of the uterus, Hypertrichosis, Pancreatic lymphangiectasis, Hepatosplenomegaly, Micro...	ORPHA:1655
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, B lymphocytopenia	OMIM:620133
1P36 Deletion Syndrome	Abnormal female external genitalia morphology, Abnormality of the spleen, Cryptorchidism, Hepatic...	ORPHA:1606
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets	OMIM:211600
Childhood Disintegrative Disorder	Abnormal emotion, Reduced social reciprocity	ORPHA:168782
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Small hand, Finger syndactyly, Supernumerary nipple...	ORPHA:1001
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi...	ORPHA:2878
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl...	ORPHA:2585
Duplication Of Urethra	Clitoral hypertrophy, Urinary bladder wall hypertrophy, Urethral stricture, Chordee, Urinary inco...	ORPHA:237
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E...	OMIM:610755
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Splenomegaly, Aut...	OMIM:614700
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Systemic Lupus Erythematosus	Anti-Sm antibody positivity, Hematuria, Decreased circulating complement C4 concentration, Weight...	ORPHA:536
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Cryptorchidism, Joint hypermobility, Arachnodactyly, Talipes equinovarus, Ventricular septal defe...	OMIM:301039
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Large for gestational...	ORPHA:79644
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, Renal dysplasia, Hypoplastic left he...	OMIM:277170
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Supernumerary nipple, Talipes equinovalgus,...	OMIM:605274
Osteopathia Striata-Cranial Sclerosis Syndrome	High iliac wing, Coarse metaphyseal trabecularization, Facial hyperostosis, Micrognathia, Osteope...	ORPHA:2780
Acitretin/Etretinate Embryopathy	Abnormality of the calcaneus, Atrioventricular canal defect, Micrognathia, Conotruncal defect, Ap...	ORPHA:40366
Sotos Syndrome	Long metacarpals, Sparse eyebrow, High anterior hairline, Long foot, Tall stature, Genu valgum, G...	OMIM:117550
Proteus Syndrome	Pulmonary cyst, Finger syndactyly, Cachexia, Abnormal metacarpal morphology, Pulmonary bulla, Cal...	ORPHA:744
Pycnodysostosis	Coronal craniosynostosis, Small hand, Rhizomelia, Lower limb asymmetry, Acromelia, Short finger, ...	ORPHA:763
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Oral-pharyngeal dysphagia, Obesity, Micrognathia, Prominent protruding coccyx, Joint hypermobilit...	ORPHA:480907
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Broad thumb, Tall stature, Micrognathia, Low frustration tolerance, Emotional lability, Reduced s...	OMIM:309520
Adnp Syndrome	Broad thumb, Oral-pharyngeal dysphagia, Cryptorchidism, Polyphagia, Abnormal finger morphology, U...	ORPHA:404448
Spondyloenchondrodysplasia	Chronic kidney disease, Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Pancytopeni...	ORPHA:1855
Bronchial Neuroendocrine Tumor	Increased serum serotonin, Hypotension, Cardiogenic shock, Right ventricular failure, Increased c...	ORPHA:97287
Glomerulopathy With Fibronectin Deposits 2	Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis...	OMIM:601894
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Absent natural killer cells, Lack of T cell function, Lymphopeni...	ORPHA:35078
Boutonneuse Fever	Abnormal skin morphology of the palm, Abnormality of the plantar skin of foot, Cervical lymphaden...	ORPHA:83313
Eec Syndrome	Toe syndactyly, Blepharitis, Finger syndactyly, Ectrodactyly, Keratitis, Decreased response to gr...	ORPHA:1896
Immunodeficiency 42	Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal...	OMIM:616622
Multiple Myeloma	Nephropathy, Osteopenia, Acute kidney injury, Pathologic fracture, Elevated circulating creatinin...	ORPHA:29073
Arms, Malformation Of	Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna	OMIM:107900
Galloway-Mowat Syndrome 9	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, ...	OMIM:619603
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Difficulty walking, Puberty and gonadal disorders, Obesity, Ataxia, Unsteady gait, Waddling gait	ORPHA:464282
Down Syndrome	Type II diabetes mellitus, Decreased fertility, Acute megakaryocytic leukemia, Renal hypoplasia/a...	ORPHA:870
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow pelvis bone, Femoral bowing, Humero...	OMIM:207410
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatosplenomegaly, Increased LDL cholesterol concentration, Splenomeg...	OMIM:616828
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circul...	ORPHA:90790
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria, Hyperprolinemia	ORPHA:419
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Abnormal epiphysis morp...	ORPHA:50945
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Micrognathia, Talipes equinovarus, Aplasia/hypoplasia o...	ORPHA:2839
Roberts Syndrome	Clitoral hypertrophy, Synostosis of carpal bones, Finger syndactyly, Micrognathia, Cryptorchidism...	ORPHA:3103
Histiocytosis-Lymphadenopathy Plus Syndrome	Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ven...	OMIM:602782
Denys-Drash Syndrome	Nephropathy, Gonadal dysgenesis, Nephroblastoma, Proteinuria, Male pseudohermaphroditism, Nephrot...	ORPHA:220
Pseudohypoparathyroidism, Type Ib	Obesity, Pseudohypoparathyroidism	OMIM:603233
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula	OMIM:619318
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Broad distal phalanx of finger, Postaxial foot polydactyly, Lower limb asymmetry, Abnormal thalam...	ORPHA:404440
W Syndrome	Radial bowing, Clinodactyly, Elbow dislocation, Pes cavus, Cubitus valgus, Pes planus, Hypoplasia...	ORPHA:2804
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Micromelia, Umbilical hernia, Abnormality of the ureter, Obesity, Genu valgum, Joint ...	ORPHA:1035
Obesity, Hyperphagia, And Developmental Delay	Obesity	OMIM:613886
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Increased LD...	OMIM:278000
Microcephaly-Micromelia Syndrome	Pulmonary hypoplasia, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humerora...	OMIM:251230
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteoporosis, Osteopenia, Increased susceptibility to fractures	OMIM:612286
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Short thumb, Camptodactyly of finger, Carpal synostosis, Preaxial pol...	ORPHA:90652
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventricular hypertrophy, Recurrent otitis media, Lymphopenia, Pancytopenia, Micrognathia, Ventric...	OMIM:620654
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Fibular overgrowth, Micromelia, Short femoral neck, Flared metap...	OMIM:602557
White-Sutton Syndrome	Broad thumb, Hypoplastic cervical vertebrae, Micrognathia, Congenital diaphragmatic hernia, Overf...	OMIM:616364
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Broad thumb, Micrognathia, Cryptorchidism, Emotional lability, Ventricular...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Broad thumb, Micrognathia, Cryptorchidism, Emotional lability, Ventricular...	ORPHA:353277
Chromosome Xq21 Deletion Syndrome	Obesity	OMIM:303110
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the pelvis, Micrognathia, Cryptorchidi...	ORPHA:3301
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Hypercalcemia, Renal insufficiency, Proteinuria, Glomerulopathy, Anemia, Bon...	ORPHA:2668
Chromosome Xq26.3 Duplication Syndrome	Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Tall stature, ...	OMIM:300942
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Cor pulmonale, Decreased circulating IgA level, Proteinuria, Macronodular cirrhosis, Mucopolysacc...	OMIM:215250
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Autosomal Dominant Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	ORPHA:169189
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Wilson Disease	Depression, Failure to thrive, Hepatitis, Abnormality of the menstrual cycle, Pathologic fracture...	ORPHA:905
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency...	OMIM:137950
Hypocomplementemic Urticarial Vasculitis	Ataxia, Abnormal heart valve morphology, Reduced circulating complement concentration, Emphysema,...	ORPHA:36412
Laurin-Sandrow Syndrome	Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi...	ORPHA:2378
Acromelic Frontonasal Dysostosis	Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Hypopituitarism, Preaxial foot polyd...	OMIM:603671
Johanson-Blizzard Syndrome	Alopecia, Abnormal vagina morphology, Failure to thrive, Exocrine pancreatic insufficiency, Abnor...	ORPHA:2315
Foxp1 Syndrome	Decreased circulating iron concentration, Recurrent upper respiratory tract infections, Clinodact...	ORPHA:391372
Mosaic Trisomy 9	Limitation of joint mobility, Elbow dislocation, Micrognathia, Endocardial fibroelastosis, Crypto...	ORPHA:99776
Autosomal Recessive Spastic Paraplegia Type 11	Hypothalamic atrophy, Inability to walk, Obesity, Pes cavus, Emotional lability, Gait disturbance...	ORPHA:2822
Cockayne Syndrome B	Atypical scarring of skin, Small for gestational age, Limitation of joint mobility, Square pelvis...	OMIM:133540
14Q11.2 Microduplication Syndrome	Highly arched eyebrow, Obesity, Hypothyroidism	ORPHA:261229
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Intellectual Developmental Disorder, Autosomal Dominant 52	Bilateral cryptorchidism, Lumbar hyperlordosis, Cryptorchidism, Low anterior hairline, Lumbar sco...	OMIM:617796
9Q31.1Q31.3 Microdeletion Syndrome	Small hand, Dilated cardiomyopathy, Type II diabetes mellitus, Short clavicles, Bicuspid aortic v...	ORPHA:401923
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal de...	OMIM:618280
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Hyperphosphatemia, Decreased body weight, Hematuria, Pulmonary edema, Glo...	ORPHA:340
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Eczematoid dermatitis, Patellar hypoplasia, Hypogonadism, Elbow ...	ORPHA:3132
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Sodium-Dependent Multivitamin Transporter Deficiency	Polymicrogyria, Decreased circulating IgG level, Clubbing of fingers	OMIM:618973
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets	OMIM:611590
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Horseshoe kidney, Abnormality of the wrist, Radioulnar synostosis, A...	ORPHA:2319
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinur...	OMIM:620010
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, C...	OMIM:235510
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Micrognathia, Metatarsus valgus, Joint hypermobility, Hypothyroidism, Hypercholestero...	ORPHA:2479
Teebi Hypertelorism Syndrome 1	Highly arched eyebrow, Widow's peak, Shawl scrotum, Bicornuate uterus, Hydrocele testis	OMIM:145420
Bloom Syndrome	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Bronchiectasis, Az...	OMIM:210900
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr...	OMIM:615285
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Absent thumb, Hypoplast...	OMIM:614083
Peripartum Cardiomyopathy	Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Tachycardia, Ri...	ORPHA:563
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate keratit...	OMIM:617388
Maternal Uniparental Disomy Of Chromosome 2	Elevated amniotic fluid alpha-fetoprotein, Abnormality of the ankle, Contractures of the large jo...	ORPHA:96179
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Absent natural killer cells, Panhypogammaglobulinemia, Lymphopenia, Absent peri...	OMIM:600802
Chromosome 10Q26 Deletion Syndrome	Small scrotum, Broad-based gait, Toe syndactyly, Micrognathia, Cryptorchidism, Atrial septal defe...	OMIM:609625
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Ambiguous genitalia, female, Fused labia minora, Increased size of the clitoris, Primary amenorrhea	ORPHA:2975
Baralle-Macken Syndrome	Obesity, Hirsutism	OMIM:619255
Ddost-Cdg	Osteopenia, Failure to thrive, Hepatic steatosis, Primary hypothyroidism, Lipodystrophy, Nephroti...	ORPHA:300536
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Maternal dia...	OMIM:616329
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Sparse eyebrow, Supernumerary nipple, Abnormal reproductive system morphology, Low posterior hair...	ORPHA:1521
Legionnaires Disease	Cellulitis, Lymphopenia, Abnormal pleura morphology, Hematuria, Ataxia, Recurrent pharyngitis, An...	ORPHA:549
Autoimmune Polyendocrinopathy Type 4	Rheumatoid arthritis, Antiphospholipid antibody positivity, Iridocyclitis, Tubulointerstitial nep...	ORPHA:227990
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Partial absence of specific antibody respo...	OMIM:618261
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Small hand, Lymphopenia, Micrognathia, Cryptorchidism, Atrial septal defect, Macronodular cirrhos...	OMIM:620005
Agammaglobulinemia 1, Autosomal Recessive	Panhypogammaglobulinemia, Agammaglobulinemia, B lymphocytopenia, Neutropenia, Rectal abscess, Dec...	OMIM:601495
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad-based gait, Hyperbilirubinemia, Genu valgum, Emotional lability, Hepatic steatosis, Ventric...	OMIM:619475
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Tall stature, Large for gestational age, Overgrowth, Unilateral cryptorchidism, Pulmonic stenosis	ORPHA:137634
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal pancreas morphology, Increased circulating IgE level, Abnormal...	ORPHA:449432
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Depression, Erysipelas, Leukocytosis, Splenomegaly, Skin rash, Orc...	ORPHA:342
Membranoproliferative Glomerulonephritis, X-Linked	Lipodystrophy, Membranoproliferative glomerulonephritis	OMIM:305800
Neu-Laxova Syndrome	Osteopenia, Abnormal cortical gyration, Rickets, Micromelia, Osteomalacia, Hypogonadism, Polymicr...	ORPHA:2671
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Abnormal cortical bone morphology, Increased susceptibility to fr...	ORPHA:2769
Chops Syndrome	Tracheomalacia, Aspiration pneumonia, Horseshoe kidney, Obesity, Vesicoureteral reflux, Cryptorch...	OMIM:616368
Hyperzincemia With Functional Zinc Depletion	Osteoporosis	OMIM:601979
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Cryptorchidism, Ventricul...	OMIM:146510
Cohen Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Leukopenia, Mic...	OMIM:216550
Diffuse Alveolar Hemorrhage	Antineutrophil antibody positivity, Rheumatoid factor positive, Elevated circulating creatinine c...	ORPHA:90060
Distal Myopathy, Tateyama Type	Calf muscle hypoplasia, Abnormal circulating creatine kinase concentration, Pes cavus, Intrinsic ...	ORPHA:488650
Rubinstein-Taybi Syndrome 1	Broad thumb, Hypoplastic iliac wing, Micrognathia, Cryptorchidism, Mitral valve prolapse, Ventric...	OMIM:180849
Chronic Mucocutaneous Candidiasis	Dyspareunia, Abnormal vagina morphology	ORPHA:1334
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Precocious puberty, Cholelithiasis, Hypoglycemia, Umbilical hernia, Recurrent otitis media, Hepat...	OMIM:301066
Resistance To Thyrotropin-Releasing Hormone Syndrome	Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra...	ORPHA:99832
Septo-Optic Dysplasia Spectrum	Obesity, Cryptorchidism, Hypohidrosis, Maternal diabetes, Anterior pituitary hypoplasia, Hypoplas...	ORPHA:3157
Ppoma	Cholelithiasis, Gastrointestinal hemorrhage, Pituitary adenoma, Increased circulating cortisol le...	ORPHA:97278
Alport Syndrome	Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Clitoral hypertrophy,...	ORPHA:63
Granulomatosis With Polyangiitis	Hematuria, Prostatitis, Arrhythmia, Weight loss, Inflammatory abnormality of the eye, Purpura, Ab...	ORPHA:900
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Recurrent urinary tract infections, Decreased response to growt...	OMIM:307200
Thrombocytopenia 6	Osteoporosis, Myelofibrosis	OMIM:616937
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity	OMIM:606772
Kenny-Caffey Syndrome, Type 2	Thickened cortex of long bones, Increased bone mineral density, Abnormality of the medullary cavi...	OMIM:127000
Autoimmune Polyendocrinopathy Type 3	Rheumatoid arthritis, Autoimmune hypoparathyroidism, Antiphospholipid antibody positivity, Iridoc...	ORPHA:227982
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Small hand, Micrognathia, Cryptorchidism, Micropenis, Short foot, Short palm	OMIM:241410
Alg9-Cdg	Micrognathia, Ventricular septal defect, Talipes equinovarus, Broad ischia, Abnormal bone ossific...	ORPHA:79328
Fanconi-Bickel Syndrome	Nephropathy, Bowing of the long bones, Hypophosphatemia, Hepatomegaly, Postprandial hyperglycemia...	ORPHA:2088
Cowden Syndrome	Abnormal penis morphology, Ataxia, Follicular thyroid carcinoma, Adenoma sebaceum, Palmoplantar k...	ORPHA:201
16P12.1P12.3 Triplication Syndrome	Short 5th finger, Prominent fingertip pads, Failure to thrive, Bilateral cryptorchidism, Decrease...	ORPHA:485405
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Eczematoid dermatitis, Elevated haptoglobin lev...	OMIM:620632
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Diabetes Mellitus, Permanent Neonatal, 4	Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis	OMIM:618858
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Small hand, Elbow dislocation, Micrognathia, Crypto...	ORPHA:199
Neuhauser Syndrome	Genu recurvatum, Osteopenia, Genu valgum, Micrognathia, Primary hypothyroidism, Arachnodactyly, P...	OMIM:249310
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Broad distal phalanx of finger, Inappropriate laughter, Micrognathia, Low frustration tolerance, ...	ORPHA:363686
Retinal Dystrophy And Obesity	Obesity	OMIM:616188
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	OMIM:101200
Multiple Epiphyseal Dysplasia Type 1	Delayed epiphyseal ossification, Limitation of joint mobility, Arthralgia of the hip, Joint stiff...	ORPHA:93308
Recessive Dystrophic Epidermolysis Bullosa Inversa	Vaginal stricture	ORPHA:79409
Acrofacial Dysostosis Syndrome Of Rodriguez	Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs ...	OMIM:201170
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis, Decreased circu...	OMIM:616829
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Pulmonary hypoplasia, Micromelia, Short ribs, Postaxial polydactyly, Ventricula...	OMIM:617895
Bone Marrow Failure Syndrome 3	Aplastic anemia, Persistence of hemoglobin F, Pancytopenia, Micrognathia, Cryptorchidism, Hernia,...	OMIM:617052
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Genu valgum, Hypomature enamel, Hematuria, Macroscopic...	OMIM:248250
Cholesteryl Ester Storage Disease	Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepat...	ORPHA:75234
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ...	OMIM:300853
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Equinovarus deformity, Short femoral neck, Flared metaphysis, Short palm, Broad foot, Joint hyper...	ORPHA:2502
Cockayne Syndrome	Difficulty walking, Absence of pubertal development, Cryptorchidism, Reduced subcutaneous adipose...	ORPHA:191
Fabry Disease	Nephropathy, Hematuria, Anorexia, Nephrotic syndrome, Depression, Hypertrophic cardiomyopathy, Re...	ORPHA:324
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i...	OMIM:161900
Acromegaly	Acne, Pituitary prolactin cell adenoma, Tall stature, Mitral regurgitation, Broad foot, Dysmenorr...	ORPHA:963
Distal Triplication 15Q	Dilatation of the renal pelvis, Horseshoe kidney, Abnormal heart morphology, Large for gestationa...	ORPHA:314588
Subaortic Stenosis-Short Stature Syndrome	Synostosis of carpal bones, Abnormal circulating lipid concentration, Obesity, Micrognathia, Type...	ORPHA:3191
Placental Insufficiency	Insulin resistance, Small for gestational age	ORPHA:439167
Retinitis Pigmentosa	Hypogonadism, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Abnormal testis morphology	ORPHA:791
Felty Syndrome	Cellulitis, Limitation of joint mobility, Synovitis, Weight loss, Neutropenia, Recurrent pharyngi...	ORPHA:47612
X-Linked Intellectual Disability, Snyder Type	Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism	ORPHA:3063
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Stage 5 c...	OMIM:614196
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Absent thumb, Renal agenesis, Leukemia, Short thumb, Horseshoe kidne...	OMIM:227645
Fragile X Syndrome	Metacarpophalangeal joint hyperextensibility, Recurrent hand flapping, Mitral valve prolapse, Joi...	OMIM:300624
Orofaciodigital Syndrome Ix	Toe syndactyly, Short tibia, Hand polydactyly, Camptodactyly, Recurrent aspiration pneumonia	OMIM:258865
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w...	ORPHA:206549
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Broad-based gait, Inappropriate laughter, Obesity, Polyphagia, Hyperactivity, Ataxia	ORPHA:411515
Malakoplakia	Inflammatory abnormality of the skin, Abnormal bleeding, Urinary bladder inflammation, Abnormalit...	ORPHA:556
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Eczemat...	OMIM:620565
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Odontochondrodysplasia 1	Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ...	OMIM:184260
Lipodystrophy, Familial Partial, Type 7	Insulin resistance, Type I diabetes mellitus, Failure to thrive, Glucose intolerance, Decreased a...	OMIM:606721
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Facial hypertrichosis, Dry hair, Sparse scalp hair, Cryptorchidism, Congeni...	OMIM:135900
Bardet-Biedl Syndrome 21	Obesity, Overweight	OMIM:617406
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morph...	ORPHA:198
Pediatric-Onset Graves Disease	Emotional lability, Polyphagia, Hepatomegaly, Jaundice, Increased circulating T4 concentration, G...	ORPHA:525731
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets, Diabetes mellitus	OMIM:616026
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Hypoglycemia, Decreased ...	OMIM:232220
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Stage 5 chronic kidn...	OMIM:603278
Primary Biliary Cholangitis	Xanthelasma, Increased circulating IgA level, Cirrhosis, Hepatomegaly, Jaundice, Abnormal intrahe...	ORPHA:186
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Weight loss, ...	ORPHA:54251
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Large for gestational age, Diastasis recti, Cryptorchidism, Pes planus, Curly hair, Neonatal hypo...	ORPHA:457485
Congenital Disorder Of Glycosylation, Type Iir	Micronodular cirrhosis, Micrognathia, Decreased proportion of CD4-positive T cells, Hepatic steat...	OMIM:301045
Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Subluxation of the small joints of the hand, Micrognathia, Dysplasia of th...	ORPHA:536471
Clark-Baraitser Syndrome	Sandal gap, Clinodactyly, Obesity, Aggressive behavior, Hyperactivity	OMIM:617752
Eosinophilic Granulomatosis With Polyangiitis	Abnormal pleura morphology, Hematuria, Weight loss, Tubulointerstitial nephritis, Dysphagia, Endo...	ORPHA:183
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteomalacia, Micrognathia, Cryptorchidism, Abnormal metacarpal morphology, Large hands, Aplasia/...	ORPHA:2636
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat...	OMIM:142900
Spastic Paraplegia 11, Autosomal Recessive	Spastic gait, Tip-toe gait, Urinary bladder sphincter dysfunction, Obesity, Pes cavus, Ankle clon...	OMIM:604360
Tarp Syndrome	Broad-based gait, Finger syndactyly, Extramedullary hematopoiesis, Clinodactyly, Horseshoe kidney...	ORPHA:2886
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Truncal obesity	ORPHA:85280
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin resistance, Generalized lipodystrophy	ORPHA:90154
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Osteopenia, Pathologic fracture, Disinhibition, T2 hypointense thalamus, Gait disturbance, Bone cyst	OMIM:618193
Agammaglobulinemia, X-Linked	Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Recurrent lower respirat...	OMIM:300755
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Pes cavus, Distal lower limb muscle weakness, Steppage gait, Hypercholesterolemi...	ORPHA:94124
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Broad thumb, Dilatation of the renal pelvis, Cholestasi...	OMIM:619534
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Grfoma	Cholelithiasis, Gastrointestinal hemorrhage, Pituitary adenoma, Increased circulating cortisol le...	ORPHA:97261
Lambert Syndrome	Failure to thrive in infancy, Cholestasis, Branchial anomaly, Inguinal hernia, Ventricular septal...	ORPHA:1296
Trichothiodystrophy	Cryptorchidism, Ventricular septal defect, Neutropenia, Clubbing, Osteopenia, Eczematoid dermatit...	ORPHA:33364
Chromosome 16P13.3 Deletion Syndrome, Proximal	Hypoplastic left heart, Broad thumb, Broad hallux, Polysplenia, Failure to thrive, Obesity, Micro...	OMIM:610543
Fraser Syndrome 2	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of...	OMIM:617666
Caudal Regression Syndrome	Abnormal pelvic girdle bone morphology, Pulmonary hypoplasia, Renal agenesis, Aplasia/Hypoplasia ...	ORPHA:3027
Bachmann-Bupp Syndrome	Hypoglycemia, Large for gestational age, Cryptorchidism, Sparse eyelashes, Absent eyebrow, Clinod...	OMIM:619075
Currarino Syndrome	Absence of the sacrum, Recurrent urinary tract infections, Horseshoe kidney, Hemisacrum, Septate ...	OMIM:176450
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Proteinuria, Short sternum, Bicornuate uterus, Non-acidotic prox...	OMIM:222448
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func...	OMIM:240500
Hsd10 Disease	Abnormal social behavior	ORPHA:391417
Kabuki Syndrome	Precocious puberty, Abnormal localization of kidney, Small hand, Short 5th finger, Failure to thr...	ORPHA:2322
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Type II diabetes mellitus, Truncal obesity, Abdominal obesity, Hypertension, Myoca...	OMIM:615812
Osteogenesis Imperfecta, Type Viii	Osteopenia, Radial bowing, Slender long bone, Femoral bowing, Tibial bowing, Decreased calvarial ...	OMIM:610915
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Small for gestational age	OMIM:606176
Wilson Disease	Hypouricemia, Osteomalacia, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Hypoparathyroidism,...	OMIM:277900
Autosomal Recessive Multiple Pterygium Syndrome	Small scrotum, Limitation of joint mobility, Finger syndactyly, Failure to thrive, Camptodactyly ...	ORPHA:2990
Diastrophic Dysplasia	Ulnar deviation of finger, Hypoplastic cervical vertebrae, Short finger, Irregular epiphyses, Gen...	OMIM:222600
Somatostatinoma	Gastrointestinal hemorrhage, Pituitary adenoma, Increased circulating cortisol level, Increased c...	ORPHA:97283
Igg4-Related Aortitis	Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement...	ORPHA:449400
Upper Limb Mesomelic Dysplasia	Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna	ORPHA:2497
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nephropathy, Normocytic anemia, Pneumonia, Depression, Abnormality of the hepatic vasculature, No...	ORPHA:247691
Microcephalic Primordial Dwarfism, Dauber Type	Obesity, Bilateral breast hypoplasia, Primary amenorrhea	ORPHA:319675
Microphthalmia, Syndromic 2	Aortic valve stenosis, Hand clenching, Cryptorchidism, Laterally curved eyebrow, Contracture of t...	OMIM:300166
Somatomammotropinoma	Increased circulating prolactin concentration, Pituitary prolactin cell adenoma, Tall stature, Mi...	ORPHA:314769
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Noonan Syndrome 8	Failure to thrive, Eczematoid dermatitis, Hypertrophic cardiomyopathy, Large for gestational age,...	OMIM:615355
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Small hand, Abnormal thalamus morphology, Polymicrogyria, Type II lissencephaly, Inability to wal...	ORPHA:300570
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Broad middle phalanx of finger, Short distal phalanx of the thumb, Decreased circulating total Ig...	ORPHA:221139
Osteopetrosis, Autosomal Recessive 3	Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis	OMIM:259730
Matthew-Wood Syndrome	Renal hypoplasia, Annular pancreas, Failure to thrive, Abnormality of the uterus, Horseshoe kidne...	ORPHA:2470
Adult-Onset Still Disease	Weight loss, Neutrophilia, Hepatomegaly, Elevated circulating C-reactive protein concentration, L...	ORPHA:829
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Small hand, Clinodactyly, Sandal gap, Tall stature, Obesity, Pes planus, Hyperactivity, Short foo...	OMIM:618089
Noonan Syndrome 4	Sparse eyebrow, High anterior hairline, Abnormal bleeding, Bruising susceptibility, Hypertrophic ...	OMIM:610733
Anti-Glomerular Basement Membrane Disease	Autoimmunity, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis, Anemia	ORPHA:375
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Coarse metaphyseal trabecularization, Flared metaphysis, Thickened cortex of long bones, Hip dysp...	OMIM:620558
Insulin-Like Growth Factor I, Resistance To	Small hand, Clinodactyly, Sandal gap, Short finger, Radial deviation of finger, Micrognathia, Red...	OMIM:270450
Female Restricted Epilepsy With Intellectual Disability	Abnormal social behavior	ORPHA:101039
Gaucher Disease Type 3	Aortic valve calcification, Pancytopenia, Increased circulating antibody level, Hematuria, Ataxia...	ORPHA:77261
Autoimmune Hypoparathyroidism	Increased bone mineral density	ORPHA:36913
Papa Syndrome	Type I diabetes mellitus, Limitation of joint mobility, Increased circulating antibody level, Pro...	ORPHA:69126
Floating-Harbor Syndrome	Broad thumb, Recurrent otitis media, Cryptorchidism, Low posterior hairline, Short neck, Broad fi...	OMIM:136140
Giant Axonal Neuropathy	Abnormal hand morphology, Genu valgum, Pes cavus, Limb muscle weakness, Abnormality of the Achill...	ORPHA:643
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Small hand, Aspiration pneumonia, Hyperglycemia, Micrognathia, Cur...	ORPHA:444077
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Multiple bladder diverticula, Recurrent otitis media, Cryptorchidism, Proteinuria,...	ORPHA:2728
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:613743
Wiedemann-Steiner Syndrome	Short 5th finger, Small hand, Broad-based gait, Short toe, Failure to thrive, Recurrent otitis me...	OMIM:605130
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Uterine neoplasm, Keratitis, Failure to thrive, Aspiration p...	ORPHA:1018
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Pes cavus, Steppage gait, Hypercholesterolemia, Ataxia	OMIM:607250
Nail-Patella-Like Renal Disease	Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria, Hypertension	ORPHA:2613
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Hyperglycemia, Leukocytosis, Left ventricular hypertrophy, Hypothyroidism, Hyper...	ORPHA:90065
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Hernia, Atrial septal...	ORPHA:505248
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Pancytopenia, Leukopenia, Prot...	OMIM:613845
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Abnormal natural killer cell physiology, Splenomegaly, Thro...	OMIM:613101
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Atopic dermatitis, Obesity, Hallux valgus, Cone-shaped epiphyses of the 4th toe, Cone-shaped epip...	ORPHA:397973
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy	OMIM:520000
Chromosome 1P36 Deletion Syndrome, Distal	Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Polyphagia, Atrial septal defec...	OMIM:607872
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem...	ORPHA:54057
Immunodeficiency 82 With Systemic Inflammation	Anoperineal fistula, Decreased circulating total IgG, Pustular rash, Osteomalacia, Recurrent otit...	OMIM:619381
Poland Syndrome	Acute leukemia, Small hand, Ureterocele, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Cr...	ORPHA:2911
Galloway-Mowat Syndrome 8	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hematuria, P...	OMIM:618349
Fanconi Anemia, Complementation Group P	Absent thumb, Short thumb, Horseshoe kidney, Pancytopenia, Micrognathia, Cryptorchidism, Hypoplas...	OMIM:613951
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Hypertriglyceridemia, Proteinuria, Decreased HDL cholesterol concentration, ...	OMIM:245900
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Avascular necrosis of the capi...	OMIM:619377
Fanconi-Bickel Syndrome	Hypouricemia, Osteomalacia, Hyperbilirubinemia, Reduced subcutaneous adipose tissue, Increased se...	OMIM:227810
Neurodevelopmental Disorder With Language Delay And Seizures	Hypomagnesemia, Cryptorchidism, Obsessive-compulsive trait, Ventricular septal defect, Attention ...	OMIM:619908
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Erlenmeyer flask deformity of the femurs, Craniofacial osteosclerosis, Increased skull ossificati...	OMIM:618476
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Tetralogy of Fallot, Overlapping toe, Overlapping fingers, Cryptorchidism...	OMIM:618316
Lig4 Syndrome	Acute leukemia, Pancytopenia, Micrognathia, Type II diabetes mellitus, Cryptorchidism, Leukocytos...	ORPHA:99812
Ciliary Dyskinesia, Primary, 29	Infertility, Decreased circulating antibody level	OMIM:615872
Igg4-Related Ophthalmic Disease	Neoplasm of the lung, Keratitis, Increased circulating IgE level, Increased circulating IgG4 leve...	ORPHA:449563
Williams-Beuren Syndrome	Recurrent otitis media, Obsessive-compulsive trait, Mitral valve prolapse, Ventricular septal def...	OMIM:194050
Blue Diaper Syndrome	Increased body weight, Decreased circulating T4 concentration, Increased proinsulin:insulin ratio...	ORPHA:94086
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Hypoplastic vertebral bodies, Limb undergrowth, Thin bony cortex, Coxa valga	OMIM:230600
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity	OMIM:616521
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
X-Linked Intellectual Disability, Hedera Type	Inability to walk, Obesity, Dysmetria, Gait disturbance, Unsteady gait	ORPHA:93952
Microsporidiosis	Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog...	ORPHA:2552
Reticular Dysgenesis	Aplasia/Hypoplasia of the thymus, Leukopenia, Anemia, Abnormality of neutrophils, Decreased circu...	ORPHA:33355
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis	OMIM:612840
Stankiewicz-Isidor Syndrome	Absent thumb, Short thumb, Micrognathia, Cryptorchidism, Ventricular septal defect, 2-3 toe synda...	OMIM:617516
Fanconi Anemia, Complementation Group D2	Pancytopenia, Cryptorchidism, Neutropenia, Absent radius, Leukemia, Duplicated collecting system,...	OMIM:227646
Alveolar Echinococcosis	Pulmonary cyst, Abnormal mesentery morphology, Increased circulating antibody level, Abnormal spl...	ORPHA:284
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f...	OMIM:206920
Adiposis Dolorosa	Obesity, Hypothyroidism, Xerostomia, Arthritis	ORPHA:36397
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Elevated circulating thyroid-stimulating hormone concentration, ...	ORPHA:226313
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Hypospadias, Truncal obesity, Supernumerary nipple	ORPHA:3224
8P11.2 Deletion Syndrome	Hypogonadism, Azoospermia, Micrognathia, Cryptorchidism, Splenomegaly, Hypogonadotropic hypogonad...	ORPHA:251066
Myh9-Related Disease	Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto...	ORPHA:182050
Osteogenesis Imperfecta	Abnormal tibia morphology, Micrognathia, Genu valgum, Mitral valve prolapse, Decreased skull ossi...	ORPHA:666
Abdominal Obesity-Metabolic Syndrome 4	Type II diabetes mellitus, Obesity, Hypertension, Myocardial infarction	OMIM:618620
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Short distal phalanx of finger, Limitation of joint mobility, Breast aplasia,...	ORPHA:90153
Diabetes Mellitus, Permanent Neonatal, 3	Glycosuria, Hyperglycemia, Type I diabetes mellitus, Small for gestational age	OMIM:618857
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Pes planus, ...	ORPHA:93357
Ulbright-Hodes Syndrome	Clitoral hypertrophy, Fibular aplasia, Enlarged labia minora, Micrognathia, Cryptorchidism, Humer...	ORPHA:3404
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Hypoglycemia, Torsade de pointes, Hypertrophic cardiomyopathy, Rhabdomyolysis, Prematu...	OMIM:616878
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Cryptorchidism, Joint hypermobility, Hypogonadotropic hypogonad...	OMIM:619718
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro...	OMIM:616818
Opitz Gbbb Syndrome	Micrognathia, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial ...	ORPHA:2745
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Ataxia, Clinodactyly, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Pr...	OMIM:603585
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur...	OMIM:613944
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Splen...	ORPHA:444463
Floating-Harbor Syndrome	Broad-based gait, Dilatation of the renal pelvis, Clinodactyly, Cryptorchidism, Atrial septal def...	ORPHA:2044
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	High anterior hairline, Endometriosis, Micropenis, Premature ovarian insufficiency, Hypospadias	ORPHA:363444
Distal Deletion 15Q	Multicystic kidney dysplasia, Small hand, Micrognathia, Genu valgum, Cryptorchidism, Congenital d...	ORPHA:1596
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Hypopituitarism, Preaxial foot polydactyly,...	ORPHA:1827
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Skin rash, Proteinuria, Hematuria, Hep...	OMIM:105200
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Supernumerary nipple, Tibial torsion, Difficulty walking, Overlapping toe, Obesity, Vesicouretera...	OMIM:618653
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Multicystic kidney dysplasia, Absent vas deferens, Abnormality of endocrine pancreas physiology, ...	ORPHA:93111
Immunoglobulin Kappa Light Chain Deficiency	Absent circulating immunoglobulin kappa chain	OMIM:614102
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Hyperuricemia, Proteinuri...	ORPHA:261222
Vipoma	Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ...	ORPHA:97282
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem...	OMIM:600995
Roifman Syndrome	Recurrent pneumonia, Short toe, Eczematoid dermatitis, Recurrent otitis media, Irregular femoral ...	OMIM:616651
Diabetes Mellitus, Permanent Neonatal, 2	Hyperglycemia, Type I diabetes mellitus, Flexion contracture	OMIM:618856
Pontocerebellar Hypoplasia Type 7	Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am...	ORPHA:284339
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,...	ORPHA:2751
6Q16 Microdeletion Syndrome	Obesity, Thick eyebrow	ORPHA:171829
Fanconi Anemia, Complementation Group E	Absent thumb, Renal agenesis, Leukemia, Short thumb, Horseshoe kidney, Absent radius, Pancytopeni...	OMIM:600901
Focal Segmental Glomerulosclerosis 6	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:614131
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps...	ORPHA:183675
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis	OMIM:618541
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Short 5th finger, Slender finger, Small hand, Inability to walk, Obesity, Genu valgum, Micrognath...	OMIM:618443
Low Phospholipid-Associated Cholelithiasis	Cholelithiasis, Obesity, Pancreatitis, Overweight, Hypertension, Diabetes mellitus	ORPHA:69663
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Ataxia, Hypoparathyroidism, Hepat...	ORPHA:699
Desmosterolosis	Micromelia, Micrognathia, Talipes, Ambiguous genitalia, Osteopetrosis, Metatarsus adductus, Incre...	ORPHA:35107
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal ...	OMIM:113000
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Eczemato...	ORPHA:83471
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Craniosynostosis, Obesity, Joint hypermobility	OMIM:619056
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:618176
Joubert Syndrome 10	Obesity, Hirsutism, Decreased body weight	OMIM:300804
Trichorhinophalangeal Syndrome, Type Ii	Sparse scalp hair, Hydrometrocolpos, Recurrent otitis media, Micrognathia, Lumbar scoliosis, Thor...	OMIM:150230
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Renal hypoplasia, Decreased testicular size, Genu valgum, Leukocytosis, Hepatic steatosis, Hypopl...	OMIM:619321
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Emphysema, Stage 5 chronic kidney disease, Hypophosphatemic rickets, G...	OMIM:618913
Meacham Syndrome	Aplasia of the right hemidiaphragm, Septate vagina, Male pseudohermaphroditism, Bicornuate uterus...	OMIM:608978
Complement Factor I Deficiency	Decreased circulating complement factor B concentration, Recurrent urinary tract infections, Recu...	OMIM:610984
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Nonopposable triphalangeal thumb, Hypospadias, Hypoplasia of the radius	OMIM:179250
Immunodeficiency 46	Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Hematuria, Benign Familial, 2	Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria	OMIM:620320
Mosaic Trisomy 16	Short forearm, Pulmonary hypoplasia, Clinodactyly, Short femoral neck, Short thumb, Horseshoe kid...	ORPHA:1708
Beckwith-Wiedemann Syndrome	Nephropathy, Tall stature, Large placenta, Cryptorchidism, Congenital diaphragmatic hernia, Hepat...	ORPHA:116
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Dilated cardiomyopathy, Hyporeflexia of lower limbs, Tip...	ORPHA:98855
Sanjad-Sakati Syndrome	Patchy osteosclerosis, Small hand, Micrognathia, Cryptorchidism, Hypoplasia of penis, Short foot	ORPHA:2323
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Precocious puberty, Overlapping toe, Cryptorchidism, Ventricular septal defect, Proteinuria, Hiat...	OMIM:616682
Ellis Van Creveld Syndrome	Acute leukemia, Synostosis of carpal bones, Abnormality of the ureter, Genu valgum, Cryptorchidis...	ORPHA:289
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve...	OMIM:308230
Laron Syndrome	Delayed menarche, Decreased serum insulin-like growth factor 1, Limb undergrowth, Short long bone	OMIM:262500
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Polysplenia, Sit...	OMIM:613807
Bile Acid Synthesis Defect, Congenital, 1	Rickets	OMIM:607765
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent otitis media, Slender build, Cryptorchidism, Overfriendliness, Ventricular septal defec...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent otitis media, Slender build, Cryptorchidism, Overfriendliness, Ventricular septal defec...	ORPHA:363958
Kleefstra Syndrome Due To A Point Mutation	Precocious puberty, Self-injurious behavior, Tracheomalacia, Failure to thrive, Umbilical hernia,...	ORPHA:261652
Osteogenesis Imperfecta, Type Xvii	Thin metacarpal cortices, Recurrent fractures, Joint hypermobility, Bowed humerus, Osteoporosis, ...	OMIM:616507
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Eczematoid dermatitis, Organic aciduria, Obesity, Joint hypermobility, Aggressive behavior, Deep ...	OMIM:620191
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Clitoral hypertrophy, Palmoplantar keratoderma, Decreased testicular size, External genital hypop...	OMIM:610644
Ataxia-Oculomotor Apraxia Type 4	Obesity	ORPHA:459033
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Orofaciodigital Syndrome Type 6	Renal agenesis, Finger clinodactyly, Bilateral cryptorchidism, Preaxial polydactyly, Abnormal hea...	ORPHA:2754
Desmosterolosis	Joint contracture of the hand, Rhizomelia, Ambiguous genitalia, female, Micrognathia, Ambiguous g...	OMIM:602398
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Hypospadias, Micromelia	ORPHA:2252
Chromosome 13Q33-Q34 Deletion Syndrome	Overlapping toe, Micrognathia, Cryptorchidism, Encephalocele, Talipes equinovarus, Small thenar e...	OMIM:619148
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia	OMIM:615863
Spondyloocular Syndrome	Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Long toe, Pes planus, Thin bony cort...	OMIM:605822
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Small scrotum, Clinodactyly, Talipes calcaneovalgus, Micrognathia, Genu valgum, Cryptorchidism, T...	OMIM:309580
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Clinodactyly, Overlapping toe, Micrognathia, Congenital diaphragmatic hernia, Ven...	OMIM:154400
Immunoglobulin A Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Bruising susceptibility, Renal insufficiency, Episclerit...	ORPHA:761
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Micr...	OMIM:608612
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Aymé-Gripp Syndrome	Limitation of joint mobility, Reduced arm span, Breast hypoplasia, Clinodactyly of the 5th finger...	ORPHA:1272
Heme Oxygenase 1 Deficiency	Nephritis, Diffuse alveolar hemorrhage, Increased circulating interleukin 6 concentration, Increa...	OMIM:614034
Gaisböck Syndrome	Increased red blood cell count, Nephrocalcinosis, Hypernatriuria, Increased mean corpuscular hemo...	ORPHA:90041
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Frontal upsweep of hair, Cryptorchidism, Rectovaginal fistula, Hypospadias,...	OMIM:243800
Carney Complex, Type 1	Pituitary adenoma, Congestive heart failure, Pheochromocytoma, Thyroid carcinoma, Thyroid follicu...	OMIM:160980
Exstrophy-Epispadias Complex	Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys...	ORPHA:322
17Q24.2 Microdeletion Syndrome	Broad thumb, Abnormality of the ankle, Upper limb undergrowth, Failure to thrive in infancy, Recu...	ORPHA:529962
Fg Syndrome 3	Broad thumb, Broad hallux, Cryptorchidism, Hyperactivity, Joint contracture	OMIM:300406
Multiple Osteochondromas	Limitation of joint mobility, Abnormal tibia morphology, Limited hip movement, Abnormal hand morp...	ORPHA:321
1Q41Q42 Microdeletion Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Talipes equinovarus, Hyposegmentation of neutrop...	ORPHA:250999
Rajab Interstitial Lung Disease With Brain Calcifications 1	Small scrotum, Cholestasis, Slender build, Pancytopenia, Hepatic steatosis, Cirrhosis, Unconjugat...	OMIM:613658
Niemann-Pick Disease, Type A	Failure to thrive, Athetosis, Sea-blue histiocytosis, Microcytic anemia, Inability to walk, Splen...	OMIM:257200
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Joint contracture of the hand, Bronchiectasis, Keratitis, Eczematoid dermatitis, Increased circul...	OMIM:618523
Vici Syndrome	Lymphopenia, Micrognathia, Decreased proportion of CD4-positive helper T cells, Atrial septal def...	OMIM:242840
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Elevated urinary dopamine level, Sinus tachycardia, Elevated urin...	ORPHA:276621
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Failure to thrive, Micrognathia,...	OMIM:301108
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Broad-based gait, Long hallux, Tall stature, Cryptorchidism, Single transverse palmar crease, Nar...	OMIM:309583
X-Linked Intellectual Disability, Stevenson Type	Tall stature, Obesity, Thick eyebrow	ORPHA:85325
Mogs-Cdg	Decreased circulating IgG level, External genital hypoplasia, Hepatosplenomegaly, Overlapping fin...	ORPHA:79330
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Dilated cardiomyopathy, Tip-toe gait, Elbow flexion cont...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Dilated cardiomyopathy, Tip-toe gait, Elbow flexion cont...	ORPHA:98853
Primrose Syndrome	Genu valgum, Cryptorchidism, Hip contracture, Ataxia, Tics, Restlessness, Motor stereotypy, Self-...	OMIM:259050
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Elevated urinary dopamine level, Sinus tachycardia, Elevated urin...	ORPHA:29072
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:616032
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:301028
Oculodentodigital Dysplasia	Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Cranial hyperostosis, Camptodactyly ...	ORPHA:2710
Noonan Syndrome 5	Sparse eyebrow, Fine hair, Hypertrophic cardiomyopathy, Large for gestational age, Cryptorchidism...	OMIM:611553
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Increased circulating prolactin concentration, Hyperglycemia, Emotional lab...	ORPHA:293987
Angiostrongyliasis	Stiff neck, Hypereosinophilia, Irritability, Increased circulating specific IgE antibody, Increas...	ORPHA:74
Sarcoidosis	Abnormal lymph node morphology, Abnormal pleura morphology, Abnormal reproductive system morpholo...	ORPHA:797
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Micrognathia, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Abnormal cardiac septum mo...	ORPHA:1352
Oeis Complex	Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute...	OMIM:258040
Den Hoed-De Boer-Voisin Syndrome	Small hand, Sandal gap, Recurrent urinary tract infections, Inability to walk, Obesity, Agitation...	OMIM:619229
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Small scrotum, Increased density of long bones, Short 1st metacar...	OMIM:269150
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ...	OMIM:615573
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Tip-toe gait, Elbow flexion contracture, Hypertrophic ca...	ORPHA:98863
Wiskott-Aldrich Syndrome	Nephropathy, Inflammation of the large intestine, Decreased proportion of CD8-positive T cells, L...	OMIM:301000
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hypoplastic ilia, Pulmonary hypoplasia, Limitation of joint mobility, Micromelia, Broad long bone...	ORPHA:1865
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Toe syndactyly, Broad thumb, Finger syndactyly, Supernumerary nippl...	ORPHA:373
Manitoba Oculotrichoanal Syndrome	Vaginal atresia, Abnormality of the hairline, Omphalocele	OMIM:248450
Chromosome 3Q29 Duplication Syndrome	Low posterior hairline, Obesity	OMIM:611936
Shox-Related Short Stature	Obesity, Micrognathia, Genu valgum, Ulnar radial head dislocation, Tibial bowing, Lower limb unde...	ORPHA:314795
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Tetralogy of Fallot, Absent gallbladder, Foot polydactyly, Renal hypoplasia/aplasia, Missing ribs...	ORPHA:3186
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL ch...	ORPHA:247598
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Hypothyroidism, Hyperthyroidism, Increased circulating antibody level	ORPHA:48377
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Osteopenia, Mediastinal lymphadenopathy, Pituitary adenoma, Increased ci...	ORPHA:97289
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr...	ORPHA:508542
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Mi...	OMIM:613237
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Nephrocalcinosis, Broad distal phalanx of finger, Micrognathia, Patent foramen ovale, Joint hyper...	OMIM:300990
Schinzel-Giedion Syndrome	Abnormality of the ureter, Overlapping toe, Streak ovary, Micrognathia, Overlapping fingers, Radi...	ORPHA:798
Dyskeratosis Congenita	Bone marrow hypocellularity, Blepharitis, Coarse metaphyseal trabecularization, Palmoplantar kera...	ORPHA:1775
Nelson Syndrome	Increased circulating cortisol level, Increased circulating prolactin concentration, Pituitary ca...	ORPHA:199244
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Supernumerary nipple, Recurrent otitis media, Overlapping toe, Micrognathia, Low posterior hairli...	OMIM:213980
Aggressive Systemic Mastocytosis	Pathologic fracture, Anorexia, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Inc...	ORPHA:98850
Waardenburg Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Premature graying of hair, Abnormal eyebro...	ORPHA:3440
Glycogen Storage Disease Ixa1	Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly	OMIM:306000
Witteveen-Kolk Syndrome	Small hand, Toe syndactyly, Clinodactyly, Male urethral meatus stenosis, Overlapping toe, Type II...	OMIM:613406
Fliedner-Zweier Syndrome	Self-injurious behavior, Unilateral renal agenesis, Multicystic kidney dysplasia, Obesity, Joint ...	OMIM:620511
Von Hippel-Lindau Syndrome	Polycythemia, Pancreatic cysts, Pheochromocytoma, Neoplasm of the pancreas, Multiple renal cysts,...	OMIM:193300
Imerslund-Grasbeck Syndrome 2	Moderate albuminuria, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Lumba...	OMIM:618882
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Inappropriate laughter, Abnormal eating behavior, Limitation of movement at ank...	ORPHA:98794
Mgat2-Cdg	Osteopenia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG ...	ORPHA:79329
Leopard Syndrome 1	Unilateral renal agenesis, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Dela...	OMIM:151100
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Hematuria, Hypertension	OMIM:607832
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul...	ORPHA:93126
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Anemia of inadequate productio...	OMIM:617780
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Abnormal bone ossification, Neutropenia, Diaphyseal undertu...	ORPHA:175
Pallister-Killian Syndrome	Aortic valve stenosis, Small scrotum, Small hand, Postaxial foot polydactyly, Sparse scalp hair, ...	OMIM:601803
Intellectual Developmental Disorder, Autosomal Recessive 13	Truncal obesity, Synophrys	OMIM:613192
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Pes cavus, Gait ataxia, Limb ataxia, Elevated circulating creatine kinase concen...	OMIM:208920
Genitopatellar Syndrome	Small scrotum, Multicystic kidney dysplasia, Clitoral hypertrophy, Hypoplastic ilia, Micrognathia...	ORPHA:85201
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Grade III vesicoureteral reflux, Cryptorchidism, Urethral stricture, Chordee, Broad toe, Urinary ...	OMIM:619522
Aapoaiv Amyloidosis	Chronic kidney disease, Renal amyloidosis, Atrial flutter, Hypertrophic cardiomyopathy, Supravalv...	ORPHA:439232
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Micrognathia, Proximal radial head dislocation, Hydronephrosis, Hyp...	OMIM:602418
Glucagonoma	Gastrointestinal hemorrhage, Pituitary adenoma, Increased circulating cortisol level, Increased c...	ORPHA:97280
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Perineal fistula, Renal hypopla...	ORPHA:2753
Omenn Syndrome	Pneumonia, Short toe, Failure to thrive, Abnormal lymphocyte morphology, Autoimmunity, Leukocytos...	ORPHA:39041
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i...	OMIM:201810
Ivic Syndrome	Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Joint stif...	ORPHA:2307
Mandibuloacral Dysplasia Progeroid Syndrome	Decreased fibular diameter, Generalized lipodystrophy, Dysplasia of the femoral head, Micrognathi...	OMIM:619127
Schwartz-Jampel Syndrome	Micrognathia, Genu valgum, Hip contracture, Bowing of the long bones, Talipes equinovarus, Pes pl...	ORPHA:800
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp...	OMIM:215140
Intellectual Developmental Disorder, Autosomal Dominant 29	Self-injurious behavior, Sandal gap, Broad hallux, Cutaneous finger syndactyly, Pes cavus, Obesit...	OMIM:616078
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Sandal gap, Tall stature, Obesity, Aggressive behavior, Hyperactivity, Ataxia, Compulsive behavio...	OMIM:618430
Faciocardiomelic Syndrome	Osteopenia, Slender long bone, Micrognathia, Hypoplastic pelvis, Polydactyly, Thin bony cortex	OMIM:612731
Marden-Walker Syndrome	Renal hypoplasia, Joint contracture of the hand, Congenital contracture, Micrognathia, Cryptorchi...	OMIM:248700
Idiopathic Intracranial Hypertension	Lethargy, Obesity	ORPHA:238624
Zollinger-Ellison Syndrome	Hyperparathyroidism, Gastrointestinal hemorrhage, Hematochezia, Pituitary adenoma, Increased circ...	ORPHA:913
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Nephrocalcinosis, Metaphyseal cupping, Pathologic fracture, Micrognathia, Hyperphosph...	OMIM:156400
Hepatic Veno-Occlusive Disease	Increased body weight	ORPHA:890
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, Li...	OMIM:252500
Retinitis Pigmentosa 51	Obesity	OMIM:613464
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Gait ataxia, Abnormal proportion of CD4-positive T ...	ORPHA:217260
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Obesity	OMIM:619854
3P25.3 Microdeletion Syndrome	Broad thumb, Broad hallux, Abnormal thalamus morphology, Overlapping toe, Micrognathia, Knee flex...	ORPHA:435638
Myhre Syndrome	Aortic valve stenosis, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Overla...	OMIM:139210
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Xanthelasma, Cachexia, Weight loss, Jau...	ORPHA:275761
Spondyloenchondrodysplasia With Immune Dysregulation	Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Tubuloin...	OMIM:607944
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening...	OMIM:114290
Osteopetrosis, Autosomal Recessive 5	Cranial hyperostosis, Flared metaphysis, Micrognathia, Osteopetrosis, Decreased osteoclast count,...	OMIM:259720
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Abnormality of the ureter, Mic...	OMIM:249000
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia, Osteolysis, Lymphadenopathy	ORPHA:158014
Perlman Syndrome	Renal hamartoma, Hypoglycemia, Nephrogenic rest, Nephroblastomatosis, Large for gestational age, ...	OMIM:267000
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Hydrometrocolpos, Horseshoe kidney, Splenomegaly, Short ribs, Postaxial po...	OMIM:617088
Genitourinary And/Or Brain Malformation Syndrome	Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee...	OMIM:618820
Pituitary Deficiency Due To Rathke Cleft Cysts	Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas...	ORPHA:91350
Congenital Disorder Of Glycosylation, Type Iiaa	Unilateral renal agenesis, Hepatic fibrosis, Nodular regenerative hyperplasia of liver, Biliary c...	OMIM:620454
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Aplasia/Hypoplasia involving the pelvis, Broad long bones, Rhizo-meso-acromelic limb shortening, ...	ORPHA:163654
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Purpura...	OMIM:161950
Koolen-De Vries Syndrome	Cryptorchidism, Ventricular septal defect, Narrow palm, Bicuspid aortic valve, Atrial septal defe...	OMIM:610443
Distal Duplication 17Q	Accessory spleen, Rhizomelia, Abnormal heart morphology, Overlapping toe, Micrognathia, Vesicoure...	ORPHA:3379
Fanconi Anemia, Complementation Group W	Renal hypoplasia, Absent thumb, Polysplenia, Decreased response to growth hormone stimulation tes...	OMIM:617784
Erdheim-Chester Disease	Abnormal epiphysis morphology, Osteomyelitis, Hypogonadotropic hypogonadism, Increased bone miner...	ORPHA:35687
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia	OMIM:618752
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Intrahepatic cholestasis, Bilateral cryptorchidism, Hyperbilirubinemia, Increased serum bile acid...	OMIM:619685
African Trypanosomiasis	Hepatosplenomegaly, Arrhythmia, Weight loss, Urinary incontinence, Alopecia, Third degree atriove...	ORPHA:3385
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Abnormality of the uterus, Fusion of the left and right tha...	ORPHA:59315
12Q14 Microdeletion Syndrome	Clinodactyly of the 5th finger, Osteopoikilosis, Micrognathia	ORPHA:94063
Narcolepsy 7	Obesity, Type II diabetes mellitus	OMIM:614250
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han...	OMIM:258860
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity	OMIM:616418
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coronal craniosynostosis, Cholelithiasis, Severe B lymphocytopenia, Coarse hair, Pancreatic hypop...	ORPHA:83617
Campomelic Dysplasia	Small abnormally formed scapulae, Hip dislocation, Tracheomalacia, 11 pairs of ribs, Micrognathia...	ORPHA:140
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Rickets, Failure to thrive, Extramedullary hematopoiesis, Cholestasis, Hype...	ORPHA:79303
Tay-Sachs Disease	Precocious puberty, Increased serum beta-hexosaminidase, Depression, Distal upper limb muscle wea...	ORPHA:845
Cryoglobulinemic Vasculitis	Viral hepatitis, Abnormality of the liver, Renal insufficiency, Splenomegaly, Cryoglobulinemia, H...	ORPHA:91138
Pseudotrisomy 13 Syndrome	Micropenis, Bicornuate uterus, Adrenal hypoplasia, Cryptorchidism	OMIM:264480
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Broad thumb, Cryptorchidism, Pseudoepiphyses of second metacarpal, ...	OMIM:107480
Fibronectin Glomerulopathy	Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Microscopic hematuria...	ORPHA:84090
Wolfram Syndrome 2	Diabetes insipidus, Oligomenorrhea, Primary amenorrhea, Decreased circulating antibody level, Imp...	OMIM:604928
Tako-Tsubo Cardiomyopathy	Mitral regurgitation, Arrhythmia, Ventricular fibrillation, ST segment elevation, Obesity, Palpit...	ORPHA:66529
Leigh Syndrome	3-Methylglutaconic aciduria, Ventricular septal defect, Neutropenia, Ataxia, Nephrotic syndrome, ...	ORPHA:506
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Obesity, Hypoketotic hypoglycemia, Arrhythmia, Ve...	ORPHA:26793
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Limitation of joint mobility, Camptodactyly of finger, Abnormal pleura morpholog...	ORPHA:2570
X-Linked Cerebral Adrenoleukodystrophy	Male hypogonadism, Myelopathy, Difficulty walking, Inability to walk, Hamstring contractures, Pri...	ORPHA:139396
Townes-Brocks Syndrome	Abnormal vertebral morphology, Toe syndactyly, Broad thumb, Abnormal vagina morphology, Cryptorch...	ORPHA:857
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel...	OMIM:131100
Cocaine Intoxication	Acute kidney injury, Diffuse alveolar hemorrhage, Elevated circulating creatine kinase concentrat...	ORPHA:90068
Vacterl With Hydrocephalus	Absence of the sacrum, Renal agenesis, Micrognathia, Inguinal hernia, Cryptorchidism, Renal hypop...	ORPHA:3412
Pierson Syndrome	Skeletal muscle atrophy, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Dif...	OMIM:609049
Achondroplasia	Hip joint hypermobility, Rhizomelia, Obesity, Limited elbow extension, Trident hand, Knee joint h...	ORPHA:15
Brachyolmia Type 1, Hobaek Type	Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Flat acetabu...	OMIM:271530
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Broad femoral neck, Distal shortening of limbs, Thickened cortex of long ...	ORPHA:488434
Distal Renal Tubular Acidosis	Osteomalacia, Renal potassium wasting, Aminoaciduria, Rickets, Polydipsia, Increased susceptibili...	ORPHA:18
Multiple Pterygium Syndrome, Escobar Variant	Talipes calcaneovalgus, Micrognathia, Dysplastic patella, Cryptorchidism, Congenital diaphragmati...	OMIM:265000
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr...	OMIM:614377
Q Fever	Hepatosplenomegaly, Increased circulating antibody level, Hematuria, Antiphospholipid antibody po...	ORPHA:781
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Self-injurious behavior, Abnormal temper tantrums, Depression, Recurrent otitis media, Autoimmuni...	ORPHA:449291
Fryns Syndrome	Joint contracture of the hand, Cryptorchidism, Ventricular septal defect, Atrial septal defect, H...	OMIM:229850
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Mosaic Trisomy 1	Hand clenching, Toe syndactyly, Broad 2nd toe, Congenital diaphragmatic hernia, Ventricular septa...	ORPHA:1692
Classic Hodgkin Lymphoma	Ataxia, Bone marrow hypocellularity, Skin rash, Splenomegaly, Weight loss, Lymphadenopathy, Anore...	ORPHA:391
Carpenter Syndrome 2	Broad thumb, Supernumerary nipple, Cutaneous finger syndactyly, Cryptorchidism, Talipes equinovar...	OMIM:614976
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Type I diabetes mellitus, Congenital pulmonary airway malformation, Hepatitis...	ORPHA:436252
Japanese Encephalitis	Genu recurvatum, Distal upper limb muscle weakness, Abnormal thalamus morphology, Stiff neck, Elb...	ORPHA:79139
Chilblain Lupus	Discoid lupus rash, Finger swelling, Inflammatory abnormality of the skin, Systemic lupus erythem...	ORPHA:90280
Monosomy 22	Contractures of the large joints, Finger syndactyly, Hepatosplenomegaly, Single transverse palmar...	ORPHA:96123
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Hypertrophic cardiomyopathy, Heart murmur, Obesity	OMIM:615418
Frank-Ter Haar Syndrome	Osteopenia, Flared metaphysis, Cortical irregularity, Micrognathia, Bowing of the long bones, Tal...	OMIM:249420
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Xanthelas...	OMIM:232200
Tick-Borne Encephalitis	Myelitis, Depression, Stiff neck, Leukopenia, Leukocytosis, Abnormal circulating cytokine concent...	ORPHA:297
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture ...	ORPHA:93315
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating IgG level, Abnormal epiphysis morphology, Enamel hypoplasia, Brachydactyly,...	ORPHA:2643
Meier-Gorlin Syndrome 7	Clitoral hypertrophy, Cryptorchidism, Aplasia/Hypoplasia of the patella, Urethral stricture, Vent...	OMIM:617063
Xfe Progeroid Syndrome	Hypoalbuminemia, Failure to thrive, Corneal scarring, Pes cavus, Renal insufficiency, Absence of ...	OMIM:610965
Oculoskeletodental Syndrome	Short 5th finger, Nephrocalcinosis, Clinodactyly, Abnormal thalamus morphology, Hypoplasia of the...	ORPHA:557003
Tetraamelia Syndrome 1	Absent external genitalia, Renal agenesis, Micrognathia, Hypoplastic pelvis, Adrenal gland agenes...	OMIM:273395
Coenzyme Q10 Deficiency, Primary, 3	Proteinuria, Nephrotic syndrome, Hypoalbuminemia	OMIM:614652
Momo Syndrome	Long foot, Tall stature, Obesity, Femoral bowing, Large for gestational age, Short sternum, Overg...	ORPHA:2563
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Broad foot, Pes planus, Advanced ossification of carpal bones,...	OMIM:615777
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Radial metaphyseal irregular...	OMIM:177170
Ehlers-Danlos Syndrome, Vascular Type	Periodontitis, Uterine rupture, Cryptorchidism, Mitral valve prolapse, Talipes equinovarus, Pulmo...	OMIM:130050
Behçet Disease	Weight loss, Anorexia, Ataxia, Endocarditis, Renal insufficiency, Pleural effusion, Irritability,...	ORPHA:117
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmune hemolyt...	OMIM:616100
Raine Syndrome	Micromelia, Long hallux, Micrognathia, Bowing of the long bones, Subperiosteal bone formation, Br...	OMIM:259775
Oligomeganephronia	Branchial cyst, Micrognathia, Decreased numbers of nephrons, Congenital diaphragmatic hernia, Pul...	ORPHA:2260
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Broad foot, Ventricular septal defect, Hepatomegaly, Short foot, Short toe,...	OMIM:269860
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Difficulty walking, Overlapping toe, Genu valgum, Carpal bone hypoplasia, Pes planus, Abnormality...	ORPHA:457395
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Aspiration pneumonia, Urinary glycosaminoglycan excretion, Genu valgum...	ORPHA:581
Achondrogenesis Type 2	Hypoplastic ilia, Micromelia, Absent vertebral body mineralization, Delayed pubic bone ossificati...	ORPHA:93296
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Atopic dermatitis, Increased circulating ferritin concentration,...	OMIM:620603
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Intellectual Developmental Disorder, X-Linked 107	Obesity	OMIM:301013
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Decreased circulating antibody...	OMIM:618116
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Abnormal heart morph...	ORPHA:85445
Imerslund-Grasbeck Syndrome 1	Proteinuria, Microscopic hematuria, Megaloblastic anemia	OMIM:261100
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Hashimoto thyr...	OMIM:618223
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Anoperineal fistula, Failure to thrive, Increased circulating IgE level, Leuk...	OMIM:618213
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent pneumonia, Atopic d...	OMIM:619752
Acute Promyelocytic Leukemia	Diffuse alveolar hemorrhage, Anorexia, Pancytopenia, Leukopenia, Leukocytosis, Metrorrhagia, Hema...	ORPHA:520
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Abnormal lymph node morphology, Papillary renal cell carcinoma, Chronic noninfectious lym...	ORPHA:97290
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lymph...	ORPHA:169160
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Clitoral hypertrophy, Toe syndactyly, Renal agenesis, Horseshoe kidney, Mitral atresia, Vesicoure...	ORPHA:140952
Dysbetalipoproteinemia	Acute pancreatitis, Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholester...	ORPHA:412
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Autoi...	ORPHA:436159
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Failure to thrive in infancy, Difficulty walking, Decreased glomerular fi...	ORPHA:488627
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Cardiomyopathy, Focal T2 hyperintense thalamic lesion, Splenomegaly, Macrocyti...	OMIM:619046
Hypocalciuric Hypercalcemia, Familial, Type Iii	Primary hyperparathyroidism, Osteomalacia	OMIM:600740
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Finger syndactyly, Micrognathia, Ataxia, Foot polydactyly, Tarsal s...	ORPHA:2750
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Long eyelashes, Obesity, Neonatal hypoglycemia, Broad lateral eyebrow	OMIM:608624
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Cellulitis, Uveitis, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin rash, Orchitis, Myos...	ORPHA:32960
Aspartylglucosaminuria	Recurrent respiratory infections, Umbilical hernia, Joint stiffness, Aspartylglucosaminuria, Abno...	ORPHA:93
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Pancytopenia, Hepatosplenomegaly, Pulmonary hemorrhage, A...	ORPHA:79124
Stuve-Wiedemann Syndrome 2	Eczematoid dermatitis, Bowing of the long bones, Short long bone, Thrombocytopenia, Camptodactyly...	OMIM:619751
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum mo...	ORPHA:83469
White-Kernohan Syndrome	Hydroureter, Horseshoe kidney, Recurrent otitis media, Obesity, Joint hypermobility, Hydronephros...	OMIM:619426
Ciliary Dyskinesia, Primary, 41	Recurrent otitis media, Recurrent sinusitis, Immotile sperm, Infertility, Bronchiectasis	OMIM:618449
Cystic Fibrosis	Osteopenia, Depression, Absent vas deferens, Decreased body mass index, Failure to thrive, Exocri...	ORPHA:586
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Recurrent otitis media, Genu valgum, Broad foot, Carpal bone hypoplasia, Broad phalanx, Metaphyse...	OMIM:250420
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad...	ORPHA:3392
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Rocker bottom foot, Arthrogryposis multiplex congenita, Decreased thalamic volume, Simplified gyr...	OMIM:619072
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Intraalveolar phospholipid accumulation, Hemophagocytosis, Failure...	OMIM:222700
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Ketotic hypoglycemia, Glycosuria, Failure to thrive	ORPHA:2089
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Type I diabetes mellitus, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Autoimmune hemol...	OMIM:615952
Man1B1-Cdg	Broad-based gait, Periventricular heterotopia, Joint hypermobility, 2-3 toe syndactyly, Polyphagi...	ORPHA:397941
Acheiropody	Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C...	OMIM:200500
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma...	ORPHA:652
Cinca Syndrome	Leukocytosis, Splenomegaly, Inflammatory abnormality of the eye, Hepatomegaly, Brachydactyly, Ele...	ORPHA:1451
Dubowitz Syndrome	Decreased circulating IgG level, Aplastic anemia, Eczematoid dermatitis, Hypocholesterolemia, Dec...	OMIM:223370
Familial Papillary Or Follicular Thyroid Carcinoma	Follicular thyroid carcinoma, Goiter, Abnormal lymph node morphology, Papillary renal cell carcin...	ORPHA:319487
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Craniotubular Dysplasia, Ikegawa Type	Broad femoral neck, Sclerosis of skull base, Diaphyseal dysplasia, Broad ischia, Thin bony cortex...	OMIM:619727
Immunodeficiency 32B	Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Eosinophilia, Monocytopen...	OMIM:226990
Ogden Syndrome	Recurrent otitis media, Micrognathia, Hyperbilirubinemia, Cryptorchidism, Ventricular septal defe...	OMIM:300855
Generalized Pustular Psoriasis	Hypoalbuminemia, Cheilitis, Lymphopenia, Obesity, Renal insufficiency, Leukocytosis, Hypocalcemia...	ORPHA:247353
Mowat-Wilson Syndrome	Aortic valve stenosis, Multicystic kidney dysplasia, Broad-based gait, Recurrent otitis media, Ge...	ORPHA:2152
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
Steinfeld Syndrome	Unilateral renal dysplasia, Abnormal heart morphology, Absent gallbladder, Missing ribs, Aplasia/...	OMIM:184705
Brain-Lung-Thyroid Syndrome	Abnormal eating behavior, Ventricular septal defect, Atrial septal defect, Ataxia, Hypoparathyroi...	ORPHA:209905
Chondrodysplasia With Joint Dislocations, Gpapp Type	Coronal craniosynostosis, Short toe, Knee dislocation, Genu valgum, Micrognathia, Limited elbow e...	OMIM:614078
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Umbilical hernia, Postnatal growth retardation, Large for gestational age, Overgrowth, Omphalocel...	ORPHA:254534
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Toe syndactyly, Structural foot deformity, Cryptorchidism, Ventricular sep...	ORPHA:464306
Leishmaniasis	Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increase...	ORPHA:507
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Bilateral cryptorchidism, Lymphopenia, Increased circulating IgA level, Neutro...	OMIM:616395
Pancreatic Triacylglycerol Lipase Deficiency	Osteoporosis, Rickets, Osteomalacia	ORPHA:309031
Immunodeficiency 54	Reduced natural killer cell count, Failure to thrive, Adrenal insufficiency, Splenomegaly, Adreno...	OMIM:609981
Cousin Syndrome	Joint contracture of the hand, Hypoplastic scapulae, Hypoplastic iliac wing, Fibular aplasia, Mic...	OMIM:260660
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Proteasome-Associated Autoinflammatory Syndrome 3	Finger swelling, Failure to thrive, Lymphopenia, Splenomegaly, Hypertriglyceridemia, Increased ci...	OMIM:617591
Mend Syndrome	Aortic valve stenosis, Broad hallux, Failure to thrive, Abnormal heart morphology, Overlapping to...	ORPHA:401973
Severe Congenital Nemaline Myopathy	Hypospadias, Increased connective tissue, Adducted thumb, Dysphagia, Multiple prenatal fractures,...	ORPHA:171430
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Micrognathia, Ventricular septal defect, Hematuria, Proteinuria, Pes planus, Sagittal craniosynos...	OMIM:616901
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hypogonadism, Adrenal insufficiency, Azoospermia, Hepatosplenomegaly, Hypothyroidism, Reticulocyt...	ORPHA:300298
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Abnormal ilium morphology, Short distal phalanx of finger, Deep plantar creases, Large for gestat...	OMIM:614080
Angelman Syndrome Due To A Point Mutation	Broad-based gait, Inappropriate laughter, Abnormal eating behavior, Obesity, Recurrent hand flapp...	ORPHA:411511
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Glycosuria, Failure to thrive, Hypertrophic cardiomyopathy, Hyperphosphaturia, Ren...	ORPHA:436271
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent urinar...	OMIM:614699
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis	OMIM:612301
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Lupus anticoagulant, Eryth...	OMIM:615688
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD...	ORPHA:572
Fryns Syndrome	Multicystic kidney dysplasia, Bicornuate uterus, Hypospadias, Cryptorchidism	ORPHA:2059
Rhabdoid Tumor	Renal neoplasm, Irritability, Hematuria, Neoplasm of the liver, Weight loss, Lymphadenopathy, Thr...	ORPHA:69077
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Hypogonadism, Absence of subcutaneous fat, Keratoconjunctivitis ...	OMIM:601675
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Dilated third ventricle, Alopecia, Sparse eyebrow, Sparse scalp hair, Bilateral cryp...	ORPHA:544488
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Joint stiffness, Brachydactyly, Thin bony cortex, Broad metatarsal, ...	OMIM:277600
Pseudo-Torch Syndrome 3	Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, P...	OMIM:618886
Trichohepatoenteric Syndrome 1	Cholestasis, Large placenta, Ventricular septal defect, Cirrhosis, Hepatomegaly, Jaundice, Hyposp...	OMIM:222470
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Increased circulating antibody level, Lipodystrophy, Hy...	ORPHA:86816
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Fine hair, Long eyelashes, Obesity, Overgrowth, Synophrys	OMIM:620250
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Broad-based gait, Clinodactyly, Broad 2nd toe, Ventricular septal ...	OMIM:280000
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hyperechogenic kidneys, Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, R...	OMIM:301110
Childhood Absence Epilepsy	Depression, Abnormal social behavior	ORPHA:64280
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Oral-pharyngeal dysphagia, Joint stiffness, Bicoronal synostosis, 11 pairs of ribs, Patent forame...	OMIM:619184
Oculocerebral Hypopigmentation Syndrome, Preus Type	Ataxia, Hypochromic anemia, Abnormal hip bone morphology, Arachnodactyly, Abnormal renal tubule m...	ORPHA:2720
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple...	ORPHA:449427
Wild Type Attr Amyloidosis	Nephropathy, Aortic valve stenosis, Abnormal pulmonary interstitial morphology, Decreased/absent ...	ORPHA:330001
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Small for gestational age, Failure to thrive, Akinesia, Renal insufficiency, Hypothyroidism, Hype...	OMIM:619147
Lipodystrophy, Familial Partial, Type 5	Irregular menstruation, Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertrigl...	OMIM:615238
Multiple Epiphyseal Dysplasia, Lowry Type	Delayed epiphyseal ossification, Epiphyseal dysplasia, Rhizomelia, Small epiphyses, Micrognathia,...	ORPHA:166016
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Dilated cardiomyopathy, Decreased circulating carnit...	ORPHA:71212
Tubulointerstitial Nephritis And Uveitis Syndrome	Increased circulating antibody level, Scleritis, Weight loss, Anorexia, Elevated circulating C-re...	ORPHA:91500
Pagod Syndrome	Hypoplastic left heart, Multicystic kidney dysplasia, Pulmonary artery hypoplasia, Abnormality of...	ORPHA:991
Legius Syndrome	Acute monocytic leukemia, Male urethral meatus stenosis, Xanthelasma, Nephroblastoma, Nephrolithi...	ORPHA:137605
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Recurrent otitis media, Situs inversus totalis, Recurrent sinus...	OMIM:615500
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Glycosuria, Failure to thrive, Hypertrophic cardiomyopathy, Hyperphosphaturia, Ren...	OMIM:220110
6Q Terminal Deletion Syndrome	Clinodactyly, Failure to thrive, Polymicrogyria, Talipes calcaneovalgus, Obesity, Micrognathia, P...	ORPHA:75857
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Multicystic kidney dysplasia, Recurrent otitis media, Long hallux, Genu va...	ORPHA:261537
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Aplasia/hypoplasia involving bones of the extremities, Flared metaphysis, Limited hip movement, A...	ORPHA:93346
Neuroblastoma	Elevated circulating catecholamine level, Elevated urinary homovanillic acid, Increased circulati...	ORPHA:635
Viss Syndrome	Increased circulating IgE level, Micrognathia, Genu valgum, Mitral valve prolapse, Contracture of...	OMIM:619472
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hypoplastic scapulae, Finger syndactyly, Micrognathia, Single ventricle, Elevated 8-dehydrocholes...	OMIM:308050
Charge Syndrome	Abnormal tibia morphology, Cryptorchidism, Talipes, Dysphagia, Abnormal morphology of female inte...	ORPHA:138
Ciliary Dyskinesia, Primary, 46	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Reduced sperm motility, Bronchi...	OMIM:619436
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Increased circulating antibody level, Anorexi...	ORPHA:99826
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, Obesity, First degree atrioventricular block, Decreased body weight	ORPHA:589821
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Hypophosphatemia, Aminoaciduria, P...	ORPHA:411634
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Dilatation of the renal pelvis, Interstitial emphysema, Poly...	OMIM:619708
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Nestor-Guillermo Progeria Syndrome	Lipoatrophy, Microretrognathia, Failure to thrive, Pathologic fracture, Progressive clavicular ac...	OMIM:614008
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Lacrimal gland hypoplasia, Absence of Stensen duct, 2-3 finger sy...	OMIM:149730
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Impaired platelet aggregation, Xant...	OMIM:210250
Neu-Laxova Syndrome 1	Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Cry...	OMIM:256520
Coffin-Siris Syndrome	Short 5th finger, Recurrent upper respiratory tract infections, Clinodactyly, Aspiration pneumoni...	ORPHA:1465
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Osteopenia, Congenital hip dislocation, Hypoplasia of the odonto...	OMIM:616007
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminence, Mesomelic ar...	OMIM:268305
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Failure to thrive, Eczematoid dermatitis, Hypertrophic cardiomyopathy, Large for gestational age,...	OMIM:607721
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,...	OMIM:613320
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Renal hypoplasia, Hypoplastic scapulae, Hepatic fibrosis, Microme...	OMIM:614091
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion...	ORPHA:1163
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Micromelia, Micrognathia, Cryptorchidism, Bowing of the long bones, Tali...	OMIM:224410
Immunodeficiency 31C	Osteopenia, Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, Ch...	OMIM:614162
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Inflammation of the large intestine, Cholestasis, Hyperbilirubinemia, Granulomatous cholangitis, ...	ORPHA:562639
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circulating inter...	ORPHA:391487
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility	ORPHA:2239
Primary Sclerosing Cholangitis	Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Weight loss, Polyclonal eleva...	ORPHA:171
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Increased circulating prolactin concentration, Aspiration pneumonia, Cryptorchi...	ORPHA:438213
Mixed Connective Tissue Disease	Nephropathy, Mediastinal lymphadenopathy, Joint stiffness, Leukopenia, Pleuritis, Splenomegaly, S...	ORPHA:809
Thyrotoxic Periodic Paralysis	Postprandial hyperglycemia, Graves disease, Second degree atrioventricular block, Obesity, Palpit...	ORPHA:79102
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Graft Versus Host Disease	Inflammatory abnormality of the skin, Hemophagocytosis, Hepatosplenomegaly, Hyperbilirubinemia, L...	ORPHA:39812
Prolidase Deficiency	Recurrent pneumonia, Failure to thrive, Eczematoid dermatitis, Systemic lupus erythematosus, Micr...	OMIM:170100
Glycogen Storage Disease Ixd	Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Hypoglycemia, Lower limb ...	OMIM:300559
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Pulmonary hypoplasia, Abnormal femoral metaphy...	OMIM:200600
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocut...	OMIM:618282
Noonan Syndrome 1	Abnormal bleeding, Bruising susceptibility, Clinodactyly, Radial deviation of finger, Hypertrophi...	OMIM:163950
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Supernumerary nipple, Sparse body hair, Nail dystrophy, Sparse eyelashes, Absent eyelashes, Patch...	OMIM:106260
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Skin rash, Lymphadenopathy,...	ORPHA:98848
Farber Disease	Hepatic fibrosis, Recurrent upper respiratory tract infections, Short toe, Failure to thrive, Abn...	ORPHA:333
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Methylmalonic aciduria, Cysta...	OMIM:277400
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Elbow flexion contracture, Inability to walk, Obesity, Hip contracture, Finger joint hypermobilit...	OMIM:618493
Norrie Disease	Self-injurious behavior, Uterine rupture, Failure to thrive, Cryptorchidism, Irritability, Motor ...	ORPHA:649
Lacrimoauriculodentodigital Syndrome	Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Cryptorchidism, Keratoconjunctivit...	ORPHA:2363
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Pancytopenia, Increased circulating antibody level, Weight l...	OMIM:181000
Neurotrophic Keratopathy	Corneal scarring, Diabetes mellitus, Allodynia	ORPHA:137596
Igg4-Related Thyroid Disease	Graves disease, Retroperitoneal fibrosis, Euthyroid goiter, Goiter, Increased circulating IgG4 le...	ORPHA:64744
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He...	OMIM:614817
Fraser Syndrome 1	Clitoral hypertrophy, Renal hypoplasia, Aplasia/Hypoplasia of the sternum, Cutaneous finger synda...	OMIM:219000
Chromosome 15Q25 Deletion Syndrome	Polysplenia, Coronary artery fistula, Congenital diaphragmatic hernia, Macrocytic anemia, Inguina...	OMIM:614294
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Whim Syndrome	Cellulitis, Pneumonia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphad...	ORPHA:51636
Marbach-Schaaf Neurodevelopmental Syndrome	Enuresis nocturna, Recurrent otitis media, Obesity, Recurrent hand flapping, Aggressive behavior,...	OMIM:619680
Glycogen Storage Disease Vii	Cholelithiasis, Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentrati...	OMIM:232800
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Glomerular crescent formation, Erythrocyte cylindruria, Anti...	OMIM:233450
Tarp Syndrome	Clinodactyly, Failure to thrive, Athetosis, Horseshoe kidney, Tetralogy of Fallot, Micrognathia, ...	OMIM:311900
Weill-Marchesani Syndrome 2	Broad phalanges of the hand, Short finger, Elbow flexion contracture, Joint stiffness, Brachydact...	OMIM:608328
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag...	OMIM:301050
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Recurrent ap...	ORPHA:275
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Diffuse alveolar hemorrhage, Thalamic hemorrhage, Abnormal heart morphology, Hypertrophic cardiom...	ORPHA:464321
Spinocerebellar Ataxia With Epilepsy	Depression, Focal T2 hyperintense thalamic lesion, Gait ataxia, Dysmetria, Hyperalaninemia, Dysdi...	ORPHA:254881
Microphthalmia, Syndromic 3	Cryptorchidism, Ventricular septal defect, Missing ribs, Hypogonadotropic hypogonadism, Hypothala...	OMIM:206900
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Renal agenesis, Polysplenia, Abnormal tibia morphology, Tetralo...	ORPHA:1335
Diamond-Blackfan Anemia 21	Secundum atrial septal defect, Short toe, Sandal gap, Preaxial hand polydactyly, Obesity, Microgn...	OMIM:620072
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Obesity	ORPHA:2180
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Clitoral hypertrophy, Postaxial foot polydactyly, Finger syndactyly...	ORPHA:818
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Difficulty walking, Genu valgum, Metaph...	ORPHA:239
Truncus Arteriosus	Aplasia/hypoplasia involving bones of the extremities, Pulmonary artery hypoplasia, Pulmonary art...	ORPHA:3384
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Multicystic kidney dysplasia, Hyphema, Recurrent otitis media, Long hallux...	ORPHA:261552
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hepatic steatosis, Ventricular septal defect, Cirrhosis, Primary amenorrhea, Hepatomegaly, Neonat...	OMIM:619418
Fetal Akinesia Deformation Sequence	Camptodactyly of finger, Akinesia, Micrognathia, Cryptorchidism, Multiple joint contractures, Art...	ORPHA:994
Fabry Disease	Lipiduria, Congestive heart failure, Transient ischemic attack, Renal insufficiency, Proteinuria,...	OMIM:301500
Tempi Syndrome	Polycythemia, Increased hematocrit, Transudative pleural effusion, Abnormality of the pulmonary v...	ORPHA:284227
Ciliary Dyskinesia, Primary, 34	Immotile sperm, Male infertility	OMIM:617091
Tafro Syndrome	Increased circulating interleukin 6 concentration, Hepatosplenomegaly, Renal insufficiency, Splen...	ORPHA:457077
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Broad-based gait, Failure to thrive, Eczematoid dermatitis, Abnormal foot morphology, Obesity, Mi...	ORPHA:369950
Fraser Syndrome	Small scrotum, Toe syndactyly, Abnormality of the urinary system, Finger syndactyly, Abnormal vag...	ORPHA:2052
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Recurrent upper respiratory tract infections, Elevated circulating thyroid-stimu...	OMIM:618183
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia, Cryptorchidism, Single transverse palmar crease	OMIM:218550
Angelman Syndrome	Broad-based gait, Obesity, Progressive gait ataxia, Hyperactivity, Ataxia, Paroxysmal bursts of l...	OMIM:105830
Basal Ganglia Calcification, Idiopathic, 5	Depression, Thalamic calcification, Athetosis, Motor tics	OMIM:615483
Ciliary Dyskinesia, Primary, 12	Abnormal central microtubular pair morphology of respiratory motile cilia, Bronchiectasis, Situs ...	OMIM:612650
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ...	ORPHA:650
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Hypoglycemia, Failure to thrive, Hyperglycemia, Overlapping fingers, Joint...	OMIM:609069
Multiple Endocrine Neoplasia Type 2	Cervical neoplasm, Elevated urinary vanillylmandelic acid, Elevated urinary catecholamine level, ...	ORPHA:653
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hydranencephaly, Microretrognathia, Small for gestational age, Tracheomalacia, Hepatic sinusoidal...	OMIM:620371
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Ataxia, Reduced natural killer cell activity,...	OMIM:603553
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Lymphopenia, Hepatic cysts, Si...	OMIM:617425
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Retroperitoneal fibrosis, Increased circulating IgG4 level, Abnormality...	ORPHA:79078
White-Sutton Syndrome	Self-injurious behavior, Abnormal heart morphology, Obesity, Inguinal hernia, Congenital diaphrag...	ORPHA:468678
Hallermann-Streiff Syndrome	Decreased number of sternal ossification centers, Recurrent pneumonia, Tracheomalacia, Slender lo...	OMIM:234100
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Erythroderma, Neutropenia, Reduced natural killer cell activity, Hepatomegaly, ...	ORPHA:540
Ciliary Dyskinesia, Primary, 18	Male infertility, Recurrent otitis media, Abdominal situs ambiguus, Situs inversus totalis, Recur...	OMIM:614874
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Umbilical hernia, ...	OMIM:300555
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Hepatomegaly, Tubulointerstitial nephrit...	ORPHA:228308
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti...	OMIM:608184
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mesomelia, Osteopenia, Rhizomelia, Decreased circulating IgG level, Congenital hypothyroidism, Ge...	OMIM:271510
Congenital Disorder Of Glycosylation, Type Iib	Hand clenching, Hypoplastic female external genitalia, Decreased circulating IgA level, Overlappi...	OMIM:606056
Mevalonic Aciduria	Ataxia, Progressive cerebellar ataxia, Fluctuating splenomegaly, Failure to thrive, Failure to th...	OMIM:610377
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG level, Peritoneal effusion, Hypomagnesemia, Intestinal...	ORPHA:90362
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Lower limb muscle weakness, Microcytic anemia, Pes cavus, 3-Methylglutaconic aciduria,...	OMIM:251900
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812
Nijmegen Breakage Syndrome	Recurrent pneumonia, Sandal gap, Recurrent urinary tract infections, Recurrent otitis media, Micr...	OMIM:251260
Lamb-Shaffer Syndrome	Abnormal social behavior	ORPHA:530983
Lymphedema-Distichiasis Syndrome	Recurrent urinary tract infections, Renal duplication, Proteinuria, Arrhythmia, Glomerulopathy, D...	ORPHA:33001
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, E...	OMIM:620532
Alexander Disease Type I	Failure to thrive, Cachexia, Ataxia, Dysphagia, Abnormal thalamic MRI signal intensity	ORPHA:363717
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity...	ORPHA:209902
Pheochromocytoma--Islet Cell Tumor Syndrome	Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,...	OMIM:171420
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Congenital Syphilis	Pneumonia, Periostitis, Keratitis, Extramedullary hematopoiesis, Hypoglycemia, Hepatosplenomegaly...	ORPHA:499009
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Decreased thalamic volume, Dysphagia, Failure to thrive	OMIM:613668
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Increased LDL cholesterol concentration, Ataxia, Hepatomegaly, Jaundice, Hypopr...	OMIM:267700
Chand Syndrome	Imperforate hymen, Hypohidrosis, Curly hair	ORPHA:1401
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Micrognathia, Splenomegaly, Tibial bowing, Abnormality of the lower limb, Bowing o...	ORPHA:3035
Juvenile Neuronal Ceroid Lipofuscinosis	Depression, Aspiration pneumonia, Abnormal heart morphology, Focal T2 hyperintense thalamic lesio...	ORPHA:79264
Okamoto Syndrome	Aortic valve stenosis, Abnormal heart morphology, Unilateral renal hypoplasia, Ureteropelvic junc...	ORPHA:2729
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Clinodactyly, Broad hallux, Branchial cyst, Congenital hypothyroidism, Micrognathi...	OMIM:620186
Esophageal Atresia	Abnormality of the urinary system, Renal agenesis, Clinodactyly, Bronchitis, Tetralogy of Fallot,...	ORPHA:1199
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Exercise-induced myo...	OMIM:607155
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Dumbbel...	ORPHA:485
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ...	OMIM:609616
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Sparse eyebrow, Limitation of joint mobility, Long foot, Slender build, Large for gestational age...	ORPHA:457359
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Recurrent pneumonia, Microcytic anemia, Hepatosplenomegaly, Cubitus valgus, Hypothyroidism, Lymph...	OMIM:619750
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Tuberous Sclerosis Complex	Chronic kidney disease, Cardiac rhabdomyoma, Renal angiomyolipoma, Parathyroid adenoma, Abnormali...	ORPHA:805
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate...	OMIM:120330
Serkal Syndrome	Abnormal penis morphology, Pulmonary hypoplasia, Hypoplasia of the bladder, Renal agenesis, Conge...	ORPHA:139466
Aicardi-Goutieres Syndrome 7	Pancytopenia, Chilblains, Hepatic steatosis, Increased circulating antibody level, Weight loss, H...	OMIM:615846
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Weight loss, Lymphadenopathy	ORPHA:2221
Ciliary Dyskinesia, Primary, 11	Abnormal central microtubular pair morphology of respiratory motile cilia, Recurrent sinusitis, C...	OMIM:612649
Ellis-Van Creveld Syndrome	Common atrium, Postaxial foot polydactyly, Hypoplastic iliac wing, Acetabular spurs, Genu valgum,...	OMIM:225500
Nager Syndrome	Unilateral renal agenesis, Aplasia/Hypoplasia of the radius, Joint stiffness, Micrognathia, Abnor...	ORPHA:245
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Pleural empyema, Abnormal circulating chemokine concentration, Acute kidney injury,...	ORPHA:544482
Rift Valley Fever	Hepatitis, Skin rash, Infectious encephalitis, Hematuria, Jaundice, Thrombocytopenia, Anorexia, A...	ORPHA:319251
Combined Oxidative Phosphorylation Deficiency 51	Focal T2 hyperintense thalamic lesion, Small for gestational age, Aspiration pneumonia	OMIM:619057
Macrophage Activation Syndrome	Hemophagocytosis, Systemic lupus erythematosus, Neutropenia, Hepatomegaly, Elevated circulating C...	ORPHA:158061
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Portal hypertension, Sclerosing cholang...	OMIM:619662
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density	OMIM:259900
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Spastic gait, Obesity, Dilated third ventricle, Tip-toe gait	OMIM:617296
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat...	OMIM:618935
Infantile Nephropathic Cystinosis	Aminoaciduria, Rickets, Glycosuria, Failure to thrive, Polydipsia, Low-molecular-weight proteinur...	ORPHA:411629
Arima Syndrome	Postaxial foot polydactyly, Hepatic steatosis, Hematuria, Cirrhosis, Tubulointerstitial fibrosis,...	OMIM:243910
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Urinary bladder sphincter dysfunction, Gait imbalance, Elevated circulating crea...	ORPHA:64753
Rabin-Pappas Syndrome	Highly arched eyebrow, Failure to thrive in infancy, Obesity, Overgrowth, Retinal telangiectasia	OMIM:620155
Xq21 Microdeletion Syndrome	Dysdiadochokinesis, Decreased response to growth hormone stimulation test, Obesity, Gait ataxia, ...	ORPHA:1435
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia...	OMIM:304120
Severe Oculo-Renal-Cerebellar Syndrome	Sandal gap, Renal insufficiency, Joint hypermobility, Proteinuria, Glomerulopathy, Choreoathetosis	ORPHA:2715
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Cellulitis, Osteopenia, Eczematoid dermatitis, Atelectasis, Recurrent respiratory infections, Inc...	ORPHA:2314
Actinic Prurigo	Pyoderma, Cheilitis, Glomerulonephritis	OMIM:174770
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Leukopenia, Spl...	ORPHA:381
Cranioectodermal Dysplasia 1	Chronic kidney disease, Clinodactyly, Bicuspid aortic valve, Broad distal phalanges of all finger...	OMIM:218330
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Emotional lability, R...	OMIM:300653
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Red-brown urine, Cardiomyopathy, Polymicrogyria...	ORPHA:157
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Self-injurious behavior, Prominent fingertip pads, Obesity, Branchial anomaly, Single transverse ...	ORPHA:466950
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Bone marrow hypocellularity, Ketonuria, Failure to thrive, Umbilical hernia, Polym...	OMIM:614520
Bartsocas-Papas Syndrome 1	Absent external genitalia, Alopecia, Bilateral cryptorchidism, Alopecia totalis, Absent eyelashes...	OMIM:263650
Kawasaki Disease	Recurrent pharyngitis, Elevated circulating C-reactive protein concentration, Jaundice, Sterile p...	ORPHA:2331
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Decreased circulating carnitine co...	ORPHA:3337
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary...	ORPHA:93101
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia	OMIM:604484
Tubulinopathy-Associated Dysgyria	Abnormal thalamus morphology, Dysgyria, Attention deficit hyperactivity disorder, Ataxia, Pachygy...	ORPHA:467166
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Autoimmune hemo...	ORPHA:100026
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Ciliary Dyskinesia, Primary, 22	Reduced sperm motility, Recurrent respiratory infections, Recurrent otitis media, Situs inversus ...	OMIM:615444
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Recurrent upper respirat...	OMIM:232240
Fanconi Anemia, Complementation Group N	Unilateral renal agenesis, Aplastic anemia, Absent thumb, Short thumb, Horseshoe kidney, Nephrobl...	OMIM:610832
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy...	ORPHA:447
Aceruloplasminemia	Ataxia, Decreased circulating iron concentration, Abnormal pancreas morphology, Refractory anemia...	ORPHA:48818
Xylt1-Cdg	Acne, Broad thumb, Clinodactyly, Flared metaphysis, Joint hypermobility, Short clavicles, Pes pla...	ORPHA:370930
Galloway-Mowat Syndrome	Nephropathy, Camptodactyly of finger, Micrognathia, Hiatus hernia, Proteinuria, Abnormality of ne...	ORPHA:2065
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Anti-thyroglobulin antibody positivity, Hyp...	OMIM:615577
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Failure to thrive, Decreased testicular size, Decreased circulat...	OMIM:620040
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Knee dislocation, Short tubular b...	ORPHA:56305
Castleman Disease	Restrictive cardiomyopathy, Increased circulating interleukin 6 concentration, Ureteral obstructi...	ORPHA:160
Alagille Syndrome 2	Cholestatic liver disease, Renal hypoplasia, Peripheral pulmonary artery stenosis, Tetralogy of F...	OMIM:610205
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Micrognathia, Genu valgum, Ventricular se...	OMIM:271640
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Congenital Disorder Of Deglycosylation 2	Genu recurvatum, Broad thumb, Sandal gap, Polymicrogyria, Micrognathia, Gray matter heterotopia, ...	OMIM:619775
Agel Amyloidosis	Depression, Cardiomyopathy, Stage 5 chronic kidney disease, Respiratory tract infection, Proteinu...	ORPHA:85448
Glycogen Storage Disease V	Failure to elevate lactate upon ischemic exercise test, Dark urine, Failure to elevate ammonia on...	OMIM:232600
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Fibular overgrowth, Abnormal epiphysis morphology, Flared metaph...	ORPHA:93352
Glycogen Storage Disease Xii	Normocytic anemia, Increased variability in muscle fiber diameter, Cholelithiasis, Splenomegaly, ...	OMIM:611881
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Increased susceptibility to fra...	ORPHA:98849
Vater/Vacterl Association	Occipital encephalocele, Ventricular septal defect, Radioulnar synostosis, Absent radius, Ectopic...	OMIM:192350
Ciliary Dyskinesia, Primary, 9	Pneumonia, Male infertility, Recurrent otitis media, Situs inversus totalis, Recurrent sinusitis,...	OMIM:612444
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Nephropathy, Focal segmental glomerulosclerosis, Hypoalbuminemia, Renal insufficiency, Pleural ef...	OMIM:254900
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pulmonary hypoplasia, Failure to thrive, Preaxial polydactyly, Acetabular spurs, Femoral bowing, ...	OMIM:615503
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short umbilical cord, Short humerus, Irritability, Dysphagia, Short femur, Tapered finger	OMIM:618367
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Ataxia, Elevated circulating alpha-fetoprotein co...	OMIM:616267
Monosomy 9Q22.3	Plantar pits, Abnormality of the vertebral column, Tall stature, Large for gestational age, Nephr...	ORPHA:77301
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Isolated Sedoheptulokinase Deficiency	Postprandial hyperglycemia, Hepatitis, Portal hypertension, Renal insufficiency, Diastasis recti,...	ORPHA:440713
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Hypoplastic ilia, Rhizomelia, Metaphyseal cupping, Severe limb shortening, Radial bowing, Microme...	OMIM:151210
Cinca Syndrome	Patellar overgrowth, Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Elevated circulat...	OMIM:607115
Neuroleptic Malignant Syndrome	Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Aspiration pneumonia, Leukocytosis, Hypoc...	ORPHA:94093
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Failure to thrive, Hypoglycemia	OMIM:615453
Hennekam Syndrome	Chylothorax, Finger syndactyly, Erysipelas, Camptodactyly of finger, Horseshoe kidney, Lymphopeni...	ORPHA:2136
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abnormal pelvis bone ossification, Micromelia, Preaxial hand polydactyly, Absent or minimally oss...	ORPHA:93271
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis...	ORPHA:57
Microcephaly, Short Stature, And Limb Abnormalities	Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy...	OMIM:617604
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Small hand, Clinodactyly, Overlapping toe, Micrognathia, Cryptorchidism, Motor stereotypy, Campto...	OMIM:309590
Dyschondrosteosis-Nephritis Syndrome	Nephropathy, Aplasia/Hypoplasia of the radius, Micromelia, Radial bowing, Ulnar bowing, Madelung ...	ORPHA:1765
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Micromelia, Metaphyseal spurs, Irregular epiphyses, Small epiphyses, Femoral bowing, Limited elbo...	OMIM:608728
Kimura Disease	Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ...	ORPHA:482
Immunodeficiency 22	Decreased circulating IgG level, Decreased circulating IgE, Recurrent upper respiratory tract inf...	OMIM:615758
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612925
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Renal insufficiency, Skin rash, Interstitial pneumonitis, Infectious encephalitis, Pus...	ORPHA:139402
Ventriculomegaly With Defects Of The Radius And Kidney	Absent thumb, Renal agenesis, Horseshoe kidney, Bowed forearm bones, Absent radius, Ureteral dupl...	OMIM:602200
Holoprosencephaly-Caudal Dysgenesis Syndrome	Radial club hand, Abnormality of the diencephalon, Renal insufficiency, Abnormal morphology of th...	ORPHA:2165
Fontaine Progeroid Syndrome	Small scrotum, Micrognathia, Cryptorchidism, Reduced subcutaneous adipose tissue, Bicuspid aortic...	OMIM:612289
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinem...	OMIM:152800
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop...	ORPHA:3226
Early Infantile Epileptic Encephalopathy	Precocious puberty, Self-injurious behavior, Ureterocele, Failure to thrive, Umbilical hernia, Sh...	ORPHA:1934
Necrotizing Enterocolitis	Hypotension, Shock, Hyperglycemia, Abnormal glucose homeostasis, Bradycardia, Small for gestation...	ORPHA:391673
Genitopatellar Syndrome	Small scrotum, Multicystic kidney dysplasia, Clitoral hypertrophy, Enlarged labia minora, Microgn...	OMIM:606170
Familial Pancreatic Carcinoma	Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg...	ORPHA:1333
Riddle Syndrome	Enuresis nocturna, Decreased circulating IgG level, Pneumonia, Recurrent pneumonia, Bronchitis, D...	ORPHA:420741
Diamond-Blackfan Anemia 1	Persistence of hemoglobin F, Micrognathia, Ventricular septal defect, Atrial septal defect, Neutr...	OMIM:105650
Momo Syndrome	Overgrowth, Obesity	OMIM:157980
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Aplastic anemia, ...	OMIM:615122
Distal Deletion 19P	Keloids, Umbilical hernia, Joint hypermobility, Arachnodactyly, Ventricular septal defect, Long t...	ORPHA:96129
Transcobalamin Ii Deficiency	Ataxia, Decreased circulating IgG level, Methylmalonic aciduria, Failure to thrive, Pancytopenia,...	OMIM:275350
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,...	OMIM:600002
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Ataxia, Dysphagia, Dysmetria, Thalamic calcification	OMIM:618317
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Short toe, Hypoplastic iliac wing, Small epiphyses, Rhizo-meso-a...	OMIM:611717
Hermansky-Pudlak Syndrome 6	Albinism, Perineal fistula, Endometriosis	OMIM:614075
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Abnormal female external genitalia morphology, Vaginal fistula, Persistent cloaca	ORPHA:1112
Coasy Protein-Associated Neurodegeneration	Compulsive behaviors, Difficulty walking, Abnormal thalamus morphology	ORPHA:397725
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Immunodeficiency 7	Failure to thrive, Recurrent otitis media, Hypereosinophilia, Autoimmunity, Splenomegaly, Autoimm...	OMIM:615387
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612926
Ciliary Dyskinesia, Primary, 15	Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Recurrent otitis...	OMIM:613808
Toxic Epidermal Necrolysis	Weight loss, Pancreatitis, Abnormal vagina morphology	ORPHA:537
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Obesity, Ventricular septal defect, Camptodactyly of toe, Craniosynos...	ORPHA:251038
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Aspartylglucosaminuria	Platyspondyly, Macroglossia, Spondylolysis, Pathologic fracture, Aspartylglucosaminuria, Mitral r...	OMIM:208400
Primary Myelofibrosis	Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg...	ORPHA:824
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Emphysema, Papillary renal cell carcinoma, Abnorm...	ORPHA:363618
Early-Onset Autosomal Dominant Alzheimer Disease	Abnormal social behavior	ORPHA:1020
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Ataxia, Micronodular cirrhosis, Aspiration pneumonia, Splenomegaly, Truncal ataxia, Seborrheic de...	OMIM:301072
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Polydipsia, Glycosuria, Hypernatriuria, Failure to thrive, Low-m...	ORPHA:47159
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Recurrent otitis media, Situs inversus totalis, Recurrent sinusitis, Chronic...	OMIM:608647
Interstitial Lung Disease 2	Usual interstitial pneumonia, Alveolar cell carcinoma, Increased circulating antibody level, Cirr...	OMIM:178500
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Congenital contracture, Thymus hyperplasia, Chylothorax, Micrognathia, Arachnodactyly, Talipes eq...	OMIM:619036
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Inability to walk, Decreased thalamic volume	OMIM:618646
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Granulomatous Slack Skin	Acute kidney injury, Hypercalcemia, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Adams-Oliver Syndrome 1	Aortic valve stenosis, Imperforate hymen, Alopecia, Toe syndactyly, Supernumerary nipple, Talipes...	OMIM:100300
Cyclic Neutropenia	Cellulitis, Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic n...	ORPHA:2686
Myopathy With Lactic Acidosis, Hereditary	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Sideroblastic anemia, Le...	OMIM:255125
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgG level, Decreased circulating IgA level, Single transverse palmar crease...	OMIM:300861
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle...	ORPHA:352479
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Thrombocytopenia, Anemi...	ORPHA:169105
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve...	OMIM:306955
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Abnormal urinary color, Abnormal morphology of female internal genitali...	ORPHA:538
Autosomal Recessive Malignant Osteopetrosis	Abnormal epiphysis morphology, Abnormal metaphysis morphology, Bowing of the long bones, Osteopet...	ORPHA:667
Robinow Syndrome, Autosomal Dominant 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism,...	OMIM:180700
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Myoglobinuria, Ataxia, Hemolytic anemia...	ORPHA:713
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Failure to thrive in infancy, Leukocytosis, Skin rash, Increased proportion of CD4-positive T cel...	OMIM:617099
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Broad hallux, Failure to thrive, Umbilical hernia, Abnormal hear...	OMIM:617062
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Pustule, Weight loss, Neutropenia, Anorexia, Hepatomegaly, Elevat...	ORPHA:50918
Acromesomelic Dysplasia 1	Acromesomelia, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epiphyses of...	OMIM:602875
Cutis Laxa, Autosomal Dominant 1	Uterine prolapse	OMIM:123700
Dpagt1-Cdg	Head-banging, Clinodactyly, Failure to thrive, Inability to walk, Stereotypical body rocking, Aki...	ORPHA:86309
Sézary Syndrome	Palmoplantar keratoderma, Abnormal lymphocyte morphology, Abnormal pleura morphology, Splenomegal...	ORPHA:3162
Mitochondrial Trifunctional Protein Deficiency 1	Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypoketotic hypoglycemia, My...	OMIM:609015
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c...	OMIM:605814
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland, Trident pelvis, Short humerus, Bowed humerus, Brachydactyly, Short long bo...	OMIM:619479
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la...	OMIM:301074
Scorpion Envenomation	Hyperglycemia, Rhabdomyolysis, Premature ventricular contraction, Arrhythmia, Tachycardia, Purpur...	ORPHA:466677
Diphallia	Penoscrotal transposition, Absent thumb, Bladder exstrophy, Bifid scrotum, Horseshoe kidney, Abno...	ORPHA:227
Beta-Ketothiolase Deficiency	Hypotension, Ketonuria, Hypoglycemia, Hyperglycemia, Leukocytosis, Weight loss, Thrombocytosis, H...	ORPHA:134
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa...	ORPHA:85170
Radial Ray Hypoplasia With Choanal Atresia	Hypoplasia of the radius, Distally placed thumb, Short thumb, Small thenar eminence	OMIM:179270
Isolated Anencephaly	Thymus hyperplasia, Congenital diaphragmatic hernia, Adrenal hypoplasia, Maternal diabetes, Ompha...	ORPHA:563609
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hepatosplenomegaly, Abnormal metatarsal morphology, Knee osteoarthritis, Synovitis, Oligoarthriti...	ORPHA:85408
Familial Mediterranean Fever, Autosomal Dominant	Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria, Peritonitis, Pleuritis	OMIM:134610
Kinsship Syndrome	Osteopenia, Renal hypoplasia, Failure to thrive, Horseshoe kidney, Bruxism, Micrognathia, Single ...	OMIM:619297
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Chronic kidney disease, Acute kidney injury, Skeletal muscle atrophy, Hypertrophic cardiomyopathy...	ORPHA:368
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t...	OMIM:119100
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Joubert Syndrome 8	Obesity	OMIM:612291
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Microretrognathia, Small for gestational age, Joint hypermobility, Bowing...	OMIM:616229
Nephronophthisis 3	Hepatic fibrosis, Nephronophthisis, Polydipsia, Failure to thrive, Stage 5 chronic kidney disease...	OMIM:604387
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Limb ataxia, Thalamic calcification	OMIM:618824
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Obesity...	ORPHA:70591
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Abnormal renal physiology, Elevated circulating creatinine con...	OMIM:274150
Hellp Syndrome	Hypotension, Acute kidney injury, Microangiopathic hemolytic anemia, Decreased mean corpuscular h...	ORPHA:244242
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Self-injurious behavior, Obesity, Single transverse palmar crease, Aggressive behavior, Pes valgu...	ORPHA:466943
Vici Syndrome	Decreased circulating IgG level, Cardiomyopathy, Joint stiffness, Decreased circulating IgG2 leve...	ORPHA:1493
Gm1 Gangliosidosis Type 1	Abnormal odontoid tissue morphology, Cardiomyopathy, Aspiration pneumonia, Hepatosplenomegaly, Ur...	ORPHA:79255
Fibrochondrogenesis 1	Hypoplastic ischia, Joint contracture of the hand, Small hand, Hypoplastic scapulae, Rhizomelia, ...	OMIM:228520
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Red-brown urine, Cardiomyopathy, Hypoketotic hypoglycemia, Myopathy, Rhabdomyolysis, Arrhythmia, ...	ORPHA:228305
Mend Syndrome	Aortic valve stenosis, Microretrognathia, Broad hallux, Failure to thrive, Crossed fused renal ec...	OMIM:300960
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Increased intramyocellular lipid droplets, Adrenocortical adenoma, Ab...	ORPHA:681
Schneckenbecken Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Cryptorchidism, Fibular hypoplasia, Short rib...	ORPHA:3144
Pure Mitochondrial Myopathy	Quadriceps muscle weakness, Shoulder girdle muscle weakness, Lumbar hyperlordosis, Rhabdomyolysis...	ORPHA:254854
Schneckenbecken Dysplasia	Hypoplastic scapulae, Umbilical hernia, Short ribs, Limb undergrowth, Dumbbell-shaped long bone, ...	OMIM:269250
Meckel Syndrome, Type 6	Hepatic fibrosis, Pulmonary hypoplasia, Postaxial foot polydactyly, Occipital encephalocele, Apla...	OMIM:612284
Leiomyomatosis, Diffuse, With Alport Syndrome	Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Fa...	OMIM:308940
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Joint contracture of the hand, Limitation of joint mobility, Micromelia, Equinovarus deformity, B...	OMIM:224400
Pheochromocytoma	Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,...	OMIM:171300
Mucolipidosis Iii Alpha/Beta	Increased serum beta-hexosaminidase, Shallow acetabular fossae, Limitation of joint mobility, Car...	OMIM:252600
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Failure to thrive, Corneal scarring, Impaired oral bolus formation, Action tremor, Decreased rest...	ORPHA:404454
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	ORPHA:90038
Rett Syndrome	Failure to thrive, Increased serum leptin, Bruxism, Difficulty walking, Inability to walk, Cholec...	ORPHA:778
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Micromelia, Polysplenia, Postaxial hand polydactyly, Omphalocele, Pancreatic fi...	OMIM:200995
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Dilated cardiomyopathy, Lymphadenitis, Fai...	OMIM:615895
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Joint contracture of the hand, Craniofacial osteosclerosis, Tracheo...	OMIM:300373
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612924
Nephrotic Syndrome, Type 22	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff...	OMIM:619155
Duane Retraction Syndrome	Preaxial hand polydactyly, Micrognathia, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Tr...	ORPHA:233
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Red-brown urine, Muscle fiber atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Incre...	ORPHA:228302
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Dicarboxylic aciduria, Hypert...	OMIM:201475
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Renal insufficiency, Abnormal metaphysis morphology, Abnormal aortic valve morphology, Proteinuri...	ORPHA:86818
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Foot polydactyly, Aplasia of the thymus, Split hand, Phocomelia	ORPHA:3004
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Hyperglycemia, Absent gallbladder, Diabetes mellitus	OMIM:615710
Congenital Nephrotic Syndrome, Finnish Type	Proteinuria, Nephrotic syndrome, Elevated amniotic fluid alpha-fetoprotein, Abnormal renal tubule...	ORPHA:839
Anaplastic Thyroid Carcinoma	Goiter, Weight loss, Lymphadenopathy, Dysphagia, Nodular goiter, Anaplastic thyroid carcinoma, Ne...	ORPHA:142
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Long hallux, Mitral valve prolapse, Ventricular septal defect, Tali...	ORPHA:500095
Retinal Dystrophy With Or Without Macular Staphyloma	Truncal obesity	OMIM:617547
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Decreased circulating antibody level	OMIM:615190
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatosplenomegaly, Decreased mean corpuscular volume, Elliptocytosis, P...	OMIM:618278
Metachromatic Leukodystrophy, Late Infantile Form	Emotional lability, Abnormal social behavior	ORPHA:309256
Liver Failure, Infantile, Transient	Hypoalbuminemia, Decreased circulating IgG level, Dicarboxylic aciduria, Hyperbilirubinemia, 3-hy...	OMIM:613070
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620138
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Combined Oxidative Phosphorylation Defect Type 7	Failure to thrive, Oral-pharyngeal dysphagia, Difficulty walking, Inability to walk, Pes cavus, I...	ORPHA:254930
Waldenström Macroglobulinemia	Normocytic anemia, Ataxia, Monoclonal immunoglobulin M proteinemia, Renal insufficiency, Splenome...	ORPHA:33226
Genetic Recurrent Myoglobinuria	Acute kidney injury, Oliguria, Proximal muscle weakness in upper limbs, Lower limb muscle weaknes...	ORPHA:99845
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Metaphyseal dysplasia, Femoral bowing, Limited elbow extension, Knee ...	OMIM:618019
Ciliary Dyskinesia, Primary, 1	Pneumonia, Bronchiectasis, Atelectasis, Male infertility, Situs inversus totalis, Recurrent bronc...	OMIM:244400
Familial Hypocalciuric Hypercalcemia	Osteomalacia	ORPHA:405
Absent Radius-Anogenital Anomalies Syndrome	Ectrodactyly, Oligodactyly, Perineal fistula, Hypoplasia of the radius, Rectovaginal fistula	ORPHA:3016
1P21.3 Microdeletion Syndrome	Self-injurious behavior, Obesity, Micrognathia, Abnormal eating behavior, Self-mutilation, Joint ...	ORPHA:293948
Netherton Syndrome	Allergic rhinitis, Decreased circulating IgG level, Failure to thrive, Eczematoid dermatitis, Inc...	OMIM:256500
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Dysmetria, Gait distu...	OMIM:277460
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung ...	OMIM:615415
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Hypoglycemia, Tricuspid regurgitation, Mitral regurgitation,...	OMIM:620300
Fetal Akinesia Deformation Sequence 1	Congenital contracture, Slender long bone, Camptodactyly of finger, Elbow contracture, Ulnar devi...	OMIM:208150
Becker Muscular Dystrophy	Falls, Tip-toe gait, Abnormal urinary color, Difficulty walking, Abnormality of the lower limb, E...	ORPHA:98895
Primary Hyperoxaluria	Generalized osteosclerosis, Recurrent fractures	ORPHA:416
Vascular Ehlers-Danlos Syndrome	Periodontitis, Uterine rupture, Cryptorchidism, Mitral valve prolapse, Talipes equinovarus, Hypos...	ORPHA:286
Medullary Thyroid Carcinoma	Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Wei...	ORPHA:1332
Metachromatic Leukodystrophy, Juvenile Form	Emotional lability, Abnormal social behavior	ORPHA:309263
Cole Disease	Abnormal hair morphology, Hyperglycemia	OMIM:615522
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Osteomalacia, Adrenal calcification, Pancreatic calcification, Abnormali...	ORPHA:51608
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short distal phalanx of finger, Renal hypoplasia, Failure to thrive, Eczematoid dermatitis, Recur...	OMIM:617157
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hypoketotic hypoglyce...	OMIM:231530
Hereditary Sensory And Autonomic Neuropathy Type 4	Chronic kidney disease, Abnormality of humoral immunity, Painless fractures due to injury, Diffic...	ORPHA:642
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Autoimmunity, Pleural effusion, Splenomegaly, Skin rash, Hepatomegaly, Elevated...	ORPHA:85414
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Ataxia, Jaundice,...	ORPHA:167
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to...	OMIM:276700
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Polysplenia, Situs inversus totalis, Partial atrioventricular canal defect, Chronic sinusitis, Re...	OMIM:619608
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Elevated urine mevaloni...	OMIM:260920
Radio-Renal Syndrome	Multicystic kidney dysplasia, Chylothorax, Renal agenesis, Micromelia, Micrognathia, Pleural effu...	ORPHA:3015
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Autoimmunity, Abnormal thalamic MRI signal intens...	ORPHA:363558
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis, Diabetes mellitus	OMIM:209010
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Highly arched eyebrow, Ketonuria, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, H...	OMIM:220111
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula...	OMIM:194380
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Broad-based gait, Cardiomyopathy, Difficulty walking, Elevated circulating creatine kinase concen...	ORPHA:119
Acute Disseminated Encephalomyelitis	Myelitis, Herpes simplex encephalitis, Irritability, Aggressive behavior, Optic neuritis, Anti-my...	ORPHA:83597
Congenital Muscular Dystrophy With Cerebellar Involvement	Decreased thalamic volume, Occipital encephalocele, Cardiomyopathy, Polymicrogyria, Type II lisse...	ORPHA:370959
Ophthalmomandibulomelic Dysplasia	Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Decrea...	OMIM:164900
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Inability to walk, Gait ataxia, T2 hypointense thalamus, Ataxia, Unsteady gait, Dysphagia	ORPHA:1947
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Recurrent otitis media, Situs inversus totalis, Recurrent sinus...	OMIM:614935
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Pulmonary hypoplasia, Hypoplasia of the bladder, Congenital pulmonary airway malformation, Renal ...	OMIM:611812
Restrictive Dermopathy 1	Rocker bottom foot, Overtubulated long bones, Micrognathia, Hydropic placenta, Short umbilical co...	OMIM:275210
Relapsing Polychondritis	Limitation of joint mobility, Hematuria, Scleritis, Inflammatory abnormality of the eye, Purpura,...	ORPHA:728
Riddle Syndrome	Decreased circulating IgG level, Pulmonary fibrosis, Ataxia	OMIM:611943
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Combined Oxidative Phosphorylation Deficiency 15	Obesity, Hypertension, Wolff-Parkinson-White syndrome, Shortened PR interval	OMIM:614947
Immunodeficiency 96	Decreased circulating IgG level, Multicystic kidney dysplasia, Increased proportion of gamma-delt...	OMIM:619774
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Preaxial polydactyly, Polymicrogyria, Occipital meningocele, Conge...	OMIM:616546
Monosomy 22Q13.3	Umbilical hernia, Bruxism, Obesity, Recurrent pyelonephritis, Vesicoureteral reflux, Hair-pulling...	ORPHA:48652
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Renal insufficiency, Elevated circulating creatine kinase concentration, Myoglobinuria, Palmoplan...	ORPHA:2364
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru...	OMIM:119800
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Telangiectasia, Hematuria, Protein...	OMIM:192315
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Situs inversus totalis, Bronchiectasis, Reduced sperm motility	OMIM:615434
Chronic Graft Versus Host Disease	Alopecia, Xerostomia, Abnormal vagina morphology, Fasciitis, Nail dystrophy, Phimosis, Weight los...	ORPHA:99921
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Predominantly dermal...	ORPHA:284426
Glycogen Storage Disease Xi	Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas...	OMIM:612933
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Micrognathia, Congenital hepatic fibrosis, Increa...	ORPHA:731
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid...	OMIM:208540
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Depression, Pancytop...	ORPHA:101096
Retinitis Pigmentosa 74	Obesity	OMIM:616562
Metachromatic Leukodystrophy, Adult Form	Depression, Emotional lability, Abnormal social behavior	ORPHA:309271
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Pneumocystosis	Interstitial pneumonitis, Pleural effusion, Increased circulating antibody level, Weight loss, Mu...	ORPHA:723
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Arachnodactyly, Atrial septal defect, Bilateral renal dysplasia, Dysphagia, A...	ORPHA:500150
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Rhizomelia, Metaphyseal cupping, Increased hepatic echogenicity, Flared metaphysis, Short finger,...	OMIM:608940
Restrictive Dermopathy	Osteopenia, Arthrogryposis multiplex congenita, Structural foot deformity, Camptodactyly of finge...	ORPHA:1662
Cystic Fibrosis	Cor pulmonale, Recurrent pneumonia, Biliary cirrhosis, Failure to thrive, Exocrine pancreatic ins...	OMIM:219700
Glycogen Storage Disease X	Myoglobinuria, Rhabdomyolysis, Renal insufficiency, Myopathy	OMIM:261670
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Dec...	ORPHA:90363
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Sclerosteosis 1	Overgrowth, Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cr...	OMIM:269500
Thauvin-Robinet-Faivre Syndrome	Renal dysplasia, Long foot, Bifid ureter, Long hallux, Transient neutropenia, Large for gestation...	OMIM:617107
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Atrial septa...	OMIM:250220
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hypotension, Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal ...	OMIM:174000
Common Variable Immunodeficiency	Pneumonia, Bronchiectasis, Failure to thrive in infancy, Lymphopenia, Abnormality of the liver, D...	ORPHA:1572
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Renal Agenesis, Bilateral	Renal agenesis, Abnormal morphology of female internal genitalia, Sirenomelia, Nonketotic hypogly...	ORPHA:1848
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Decreased circulating apolipoprote...	OMIM:207750
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Broad thumb, Overlapping toe, Micrognathia, Talipes, Bicuspid aortic valve, Pes planus, Atrial se...	OMIM:612474
Combined Oxidative Phosphorylation Defect Type 23	Failure to thrive, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Right ventricular h...	ORPHA:444013
Spondylometaphyseal Dysplasia, Algerian Type	Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v...	OMIM:184253
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Atrophic scars, Increased circulating ...	ORPHA:48104
Heart Defects, Congenital, And Other Congenital Anomalies	Pancreatic hypoplasia, Glycosuria, Failure to thrive, Hyperglycemia, Absent gallbladder, Congenit...	OMIM:600001
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:160010
Neuroferritinopathy	Difficulty walking, Decreased circulating ferritin concentration, Emotional lability, T2 hypointe...	ORPHA:157846
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Elevated circulating creatinine concentration, Cryoglobulinemia, Proteinu...	OMIM:123550
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicornuate uterus, Hypospadias, Annular pancreas	OMIM:265380
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, B...	ORPHA:49
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency, Rhabdomyolysis	OMIM:255110
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Aminoaciduria, Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Hypertrophic cardiomyopat...	OMIM:124000
Geleophysic Dysplasia 1	Aortic valve stenosis, Osteopenia, Joint contracture of the hand, Cone-shaped epiphysis, Short me...	OMIM:231050
Ciliary Dyskinesia With Defective Radial Spokes	Sinusitis, Immotile sperm, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis	OMIM:242670
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Fusion of the left and right thalami, Flexion contracture, Ventricular septal d...	OMIM:619306
Proteasome-Associated Autoinflammatory Syndrome 4	Generalized lipodystrophy, Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, ...	OMIM:619183
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cellulitis, Decreased mean platelet volume, Inflammation of the large intestine, Recurrent pneumo...	OMIM:617718
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia, Hemoglobin...	ORPHA:90035
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Mitral valve prolapse, Abnormal thalamic MRI signal intensity	ORPHA:309155
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Broad phalanx, Short metacarp...	OMIM:271665
Aneurysm-Osteoarthritis Syndrome	Camptodactyly of finger, Uterine prolapse, Joint hypermobility, Knee osteoarthritis, Arachnodacty...	ORPHA:284984
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Small pituitary gland, Thoracic hypertrichosis, High anterior hairline, Horizontal eyebrow, Media...	OMIM:619503
Chikungunya	Periostitis, Depression, Cervical lymphadenopathy, Joint stiffness, Skin rash, Maculopapular exan...	ORPHA:324625
Keppen-Lubinsky Syndrome	Recurrent pneumonia, Failure to thrive, Generalized lipodystrophy, Micrognathia, Absence of subcu...	OMIM:614098
Myoglobinuria, Recurrent	Exercise-induced myoglobinuria, Recurrent myoglobinuria, Ragged-red muscle fibers	OMIM:550500
Ebola Hemorrhagic Fever	Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Dysphagia, Thrombocytop...	ORPHA:319218
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Fanconi Anemia, Complementation Group U	Absent thumb, Hypoplasia of the radius, Absent radius, Absent scaphoid, Ectopic kidney, Aplasia o...	OMIM:617247
Osteopetrosis With Renal Tubular Acidosis	Bone marrow hypocellularity, Failure to thrive, Recurrent fractures, Osteopetrosis, Secondary hyp...	ORPHA:2785
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Familial Acute Necrotizing Encephalopathy	Gait disturbance, Abnormal thalamus morphology	ORPHA:88619
Classical Ehlers-Danlos Syndrome	Osteopenia, Abnormal foot morphology, Shoulder dislocation, Uterine prolapse, Generalized joint h...	ORPHA:287
Tibial Hemimelia	Absent tibia	OMIM:275220
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Granulomatous Disease, Chronic, X-Linked	Cellulitis, Discoid lupus rash, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermati...	OMIM:306400
Blau Syndrome	Nephropathy, Posterior uveitis, Limitation of joint mobility, Keratitis, Camptodactyly of finger,...	ORPHA:90340
Dend Syndrome	Elevated hemoglobin A1c, Clinodactyly of the 4th finger, Hyperglycemia	ORPHA:79134
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Diaphragmatic Hernia 4, With Cardiovascular Defects	Pulmonary artery hypoplasia, Finger syndactyly, 11 pairs of ribs, Micrognathia, Cryptorchidism, V...	OMIM:620025
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Depression, Gait ataxia, Abnormal thalamic MRI signal intensity, Dilated cardiomyopathy	ORPHA:70595
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Cellulitis, Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Cellulitis, Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom...	OMIM:233710
Dihydropyrimidine Dehydrogenase Deficiency	Abnormal aggressive, impulsive or violent behavior, Abnormal social behavior, Irritability	ORPHA:1675
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Cellulitis, Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom...	OMIM:233690
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Pulmonary cyst, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, Dysp...	OMIM:147060
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypoglycemia, Hyperglycemia, Thrombocytopenia, Ankle clonus	OMIM:620423
Acute Generalized Exanthematous Pustulosis	Cholestasis, Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Leukocytosis, Pus...	ORPHA:293173
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Stomatocytosis, Decreased thalamic volume, Hepatosplenomegaly, Brac...	ORPHA:168577
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype...	ORPHA:529808
Pyruvate Carboxylase Deficiency	Hyperglycemia, Failure to thrive, Hypoglycemia, Lacticaciduria	ORPHA:3008
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Fusion of the left and right thalami, Unsteady gait	OMIM:617542
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria, Rhabdomyolysis	OMIM:602199
Ileal Neuroendocrine Tumor	Increased serum serotonin, Hydronephrosis, Iron deficiency anemia, Weight loss, Lymphadenopathy, ...	ORPHA:100078
Cog1-Cdg	Osteopenia, Rhizomelia, Failure to thrive, Hepatosplenomegaly, Micrognathia, Talipes equinovarus,...	ORPHA:263508
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:266120
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia, Limb muscle weakness, Paroxysmal nocturnal hemoglobinuria, Skeletal muscle atrophy	OMIM:612300
Coffin-Lowry Syndrome	Highly arched eyebrow, Coarse hair, Thick eyebrow, Uterine prolapse	OMIM:303600
Ulnar Agenesis And Endocardial Fibroelastosis	Finger aplasia, Endocardial fibroelastosis, Aplasia of the ulna	OMIM:276822
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal mitochondrial shape, Dysphagia, Abnormal thalamic MRI signal intensity	ORPHA:485421
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Necrotizing myopathy, Supraventricular tachycardia, High-output congestive h...	ORPHA:423
Hydranencephaly	Atrophic pituitary gland, Stiff neck, Dilatation of the ventricular cavity, Dysgenesis of the tha...	ORPHA:2177
Loeys-Dietz Syndrome 3	Osteopenia, Hip osteoarthritis, Cystocele, Uterine prolapse, Joint hypermobility, Knee osteoarthr...	OMIM:613795
Microphthalmia, Syndromic 1	Renal hypoplasia, Joint contracture of the hand, Hydroureter, Clinodactyly, Prominent fingertip p...	OMIM:309800
Cysticercosis	Stiff neck, Emotional lability, Increased circulating antibody level, Infectious encephalitis, Ir...	ORPHA:1560
Carney Triad	Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Lymphadenopathy, Anorexia, Anemia...	ORPHA:139411
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Focal segmental glomerulosclerosis, Hypoalbuminemia, Abnormal pulmonary interstitial morphology, ...	OMIM:614748
Malt Lymphoma	Posterior uveitis, Abnormality of the thyroid gland, Weight loss, Lymphadenopathy, Anemia, Recurr...	ORPHA:52417
Pyknoachondrogenesis	Abnormal intramembranous ossification, Craniofacial hyperostosis, Short iliac bones, Micromelia, ...	ORPHA:3003
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Abnormal social behavior	ORPHA:314647
Holoprosencephaly 7	Panhypopituitarism, Fusion of the left and right thalami, Occipital meningocele, Omphalocele	OMIM:610828
Bickerstaff Brainstem Encephalitis	Pneumonia, Respiratory tract infection, Ataxia, Autoimmune antibody positivity, Abnormal thalamic...	ORPHA:79138
Leptospirosis	Acute kidney injury, Uveitis, Hepatitis, Pulmonary hemorrhage, Pleural effusion, Skin rash, Optic...	ORPHA:509
Niemann-Pick Disease Type C	Depression, Abnormal social behavior, Low frustration tolerance	ORPHA:646
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Pancreatoblastoma	Pancreatic calcification, Jaundice, Weight loss, Abnormal lymph node morphology	ORPHA:677
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Renal artery stenosis, Hyperlipidemia, Hepatic steatosis...	ORPHA:391665
Breast Cancer		OMIM:114480
Migraine With Or Without Aura, Susceptibility To, 1		OMIM:157300

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 Esr1

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 Esr1.

No publications found that use IMPC mice or data for Esr1.

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
Esr1^{em1(IMPC)Wtsi}	Deletion	Mice
Esr1^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Esr1^{tm296592(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Esr1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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