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Gene: Esr1 MGI:1352467

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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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... 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 Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... OMIM:618078
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... OMIM:619146
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Premature Ovarian Failure 2A
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:300511
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Hydatidiform Mole
Hyperthyroidism, Menometrorrhagia, Enlarged uterus ORPHA:99927
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
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
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Increased circulating antimullerian ho... ORPHA:99429
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:619938
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Spermatogenic Failure, X-Linked, 4
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic... OMIM:301077
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Avascular Necrosis Of Femoral Head, Primary, 1
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis OMIM:608805
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus OMIM:600121
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Androgen Insensitivity Syndrome
Inguinal hernia, Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axill... OMIM:300068
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... OMIM:614837
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Synophrys, Obesity, Primary amenorrhea, Hypoplasia of the uterus,... ORPHA:247768
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Osteoporosis, Hypoplastic labi... OMIM:618187
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density, Pedal edema ORPHA:75325
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... ORPHA:1802
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Lower limb asymmetry, Joint stiffness OMIM:166700
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... OMIM:620311
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... OMIM:612965
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Hirsutism, Amenorrhea OMIM:184700
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, I... ORPHA:206484
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... ORPHA:785
Multiple Symmetric Lipomatosis
Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology ORPHA:2398
Premature Ovarian Failure 16
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... OMIM:618723
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... ORPHA:90793
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Osteosclerotic Metaphyseal Dysplasia
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis OMIM:615198
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... OMIM:202010
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... OMIM:240950
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... ORPHA:314478
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
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... OMIM:228300
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, L... ORPHA:280356
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Ambiguous genita... ORPHA:90791
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
49,Xyyyy Syndrome
Eunuchoid habitus, Abnormality of the epiphyses of the elbow, External genital hypoplasia, Abnorm... ORPHA:99330
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... ORPHA:3152
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... ORPHA:53697
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis... ORPHA:432
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Mueller-Weiss Syndrome
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone... ORPHA:566943
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
49,Xxxyy Syndrome
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... ORPHA:261534
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Small hand, ... OMIM:300869
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Satoyoshi Syndrome
Abnormal hair morphology, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Sparse or abs... ORPHA:3130
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis, Hypogonadotropic hypogonadism OMIM:615269
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Eiken Syndrome
Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph... ORPHA:79106
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Short toe, Kyphosis, Hyperinsuline... ORPHA:3085
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... ORPHA:2790
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Premature Ovarian Failure 1
Increased circulating gonadotropin level OMIM:311360
Mccune-Albright Syndrome
Abnormal femur morphology, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious pubert... ORPHA:562
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Reni Syndrome
Diffuse mesangial sclerosis, Lymphopenia, Proteinuria, Hypoglycemia, Mesangial hypercellularity, ... OMIM:617575
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... ORPHA:251623
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasti... ORPHA:90794
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... ORPHA:3411
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Sparse facial hair, Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ov... ORPHA:2232
46,Xx Sex Reversal 5
Ambiguous genitalia, Aplasia of the left hemidiaphragm, Urogenital sinus anomaly, Increased serum... OMIM:618901
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... OMIM:615962
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis, Sparse body hair ORPHA:85274
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... OMIM:619598
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Increased circulatin... ORPHA:2298
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Isochromosomy Yq
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration OMIM:618287
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... OMIM:618987
Cortisone Reductase Deficiency 1
Alopecia, Precocious puberty, Obesity, Infertility, Oligomenorrhea, Hirsutism OMIM:604931
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Post-Traumatic Pituitary Deficiency
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... ORPHA:95619
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity, Thick eyebrow OMIM:309585
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity, Renal cyst OMIM:615987
46,Xy Sex Reversal 5
Elevated circulating follicle stimulating hormone level OMIM:613080
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Polycystic ovaries, Progressive loss of facial adipose tissue, Loss of truncal... OMIM:608709
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211
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
Acromesomelic Dysplasia 3
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... OMIM:609441
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Short neck, Bilateral cryptorchidism, Short palm, Joint ... OMIM:305400
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Recurrent fractures, Increased circulating gonadotropin level, Ab... ORPHA:2410
Femoral-Facial Syndrome
Short femur, Maternal diabetes, Renal hypoplasia/aplasia, Micrognathia, Cryptorchidism, Abnormal ... ORPHA:1988
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Limb undergrowth, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal lim... ORPHA:2204
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism OMIM:614851
Porokeratosis 2, Palmar, Plantar, And Disseminated Type
Plantar telangiectasia, Palmar telangiectasia OMIM:175850
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de... ORPHA:970
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Ost... OMIM:610489
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Hypertension, Pancreatitis ORPHA:79084
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S... ORPHA:1772
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Bardet-Biedl Syndrome 5
Micropenis, Hypogonadism, External genital hypoplasia, Obesity OMIM:615983
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Insulin resistance, Obesity, Oligozoospermia, Az... OMIM:615703
Satoyoshi Syndrome
Hypoplasia of the uterus, Alopecia, Alopecia universalis, Amenorrhea OMIM:600705
Isolated Osteopoikilosis
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... ORPHA:166119
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... ORPHA:453533
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Thoracic scoliosis, Multiple joint contractures, Microcytic anemia, Micrognathia, T l... ORPHA:2959
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Osteoporosis
Osteoporosis OMIM:166710
Extensor Tendons Of Finger Anomalies
Limitation of joint mobility, Osteoporosis, Camptodactyly of finger ORPHA:3294
Rabson-Mendenhall Syndrome
Fasting hyperinsulinemia, Low anterior hairline, Nephrocalcinosis, Premature graying of hair, Fas... ORPHA:769
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Eczema, Hydrocele testis, Slender long bone, Increased serum testosterone l... ORPHA:96181
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
46,Xx Sex Reversal 1
Tall stature, True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:400045
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Stiff interphalangeal joints, Hyperglycemia, Hypothyroidism, Hypogonadotro... ORPHA:465508
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Ataxia-Telangiectasia
Lymphopenia, Failure to thrive, Diabetes mellitus, Telangiectasia of the skin, Skeletal muscle at... ORPHA:100
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Cervical Cancer
Cervix cancer OMIM:603956
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Preeclampsia
Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr... ORPHA:275555
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... ORPHA:435651
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... OMIM:607634
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility OMIM:617593
Caffey Disease
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... OMIM:114000
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... ORPHA:166277
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Rheumatoid factor positive, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me... ORPHA:79085
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro... ORPHA:243
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... ORPHA:435660
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... OMIM:618459
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Moyamoya Disease 1
Inflammatory arteriopathy, Telangiectasia OMIM:252350
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In... OMIM:110100
Melorheostosis
Increased bone mineral density, Joint stiffness, Lower limb asymmetry, Hyperostosis, Arthritis, E... ORPHA:2485
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Lead Poisoning
Decreased HDL cholesterol concentration, Anorexia, Abnormal T cell morphology, Tubulointerstitial... ORPHA:330015
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Intellectual Developmental Disorder With Autism And Speech Delay
Impaired social interactions OMIM:606053
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Hypoplastic frontal sinuses, Reduced bone mineral de... OMIM:265900
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Woodhouse-Sakati Syndrome
Osteopenia, Decreased serum testosterone concentration, Alopecia, Streak ovary, Premature ovarian... ORPHA:3464
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Amed Syndrome, Digenic
Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Hypoplasia of the uterus, Leukopeni... OMIM:619151
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Ane Syndrome
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... ORPHA:157954
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Cranio-Osteoarthropathy
Abnormality of the knee, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of ... ORPHA:1525
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... ORPHA:168558
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c... OMIM:615513
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... ORPHA:90301
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L... ORPHA:1423
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... ORPHA:169079
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... OMIM:144750
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche OMIM:614662
Silver-Russell Syndrome
Decreased muscle mass, Micrognathia, Hyperhidrosis, Abnormal appendicular skeleton morphology, Re... ORPHA:813
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... OMIM:147891
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Congenital Generalized Lipodystrophy
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Lipodystrophy... ORPHA:528
Renal Cysts And Diabetes Syndrome
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnorm... OMIM:137920
Galactosemia I
Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Albuminuria, A... OMIM:230400
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... OMIM:615559
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Familial Expansile Osteolysis
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex OMIM:174810
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... OMIM:212050
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... OMIM:201750
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Cystic Echinococcosis
Abnormal peritoneum morphology, Abnormality of the testis size, Renal cyst, Peritoneal abscess, B... ORPHA:400
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... ORPHA:90650
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger ORPHA:2787
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... OMIM:619795
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Deviation of finger, ... ORPHA:1227
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Slc35A2-Cdg
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Abnormal long bone mo... ORPHA:356961
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Obesity, Aplasia/Hypoplasia of the testes ORPHA:3055
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Hypogonadism, Sparse body hair, Failure to thrive, Decreased tes... ORPHA:261483
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Lipodystrophy, Familial Partial, Type 4
Insulin-resistant diabetes mellitus, Lipoatrophy, Insulin resistance, Lipodystrophy OMIM:613877
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Child... ORPHA:71529
Epiphyseal Dysplasia, Multiple, 1
Pes planus, Short metacarpal, Epiphyseal dysplasia, Joint stiffness, Avascular necrosis of the ca... OMIM:132400
Acrodysostosis
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... ORPHA:950
Myoectodermal Gonadal Dysgenesis Syndrome
Clitoral hypoplasia, Cutaneous finger syndactyly, Short palm, Accessory spleen, Elevated circulat... OMIM:618419
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... ORPHA:171706
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Micrognath... OMIM:616222
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Leptin Deficiency Or Dysfunction
Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size OMIM:614962
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept... OMIM:602080
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... ORPHA:3329
48,Xxyy Syndrome
Hypoplasia of penis, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Chronic otitis... ORPHA:10
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:95513
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of... ORPHA:84
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl... ORPHA:2501
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteopenia, Osteoporosis, Delayed puberty OMIM:615271
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Pelvic girdle muscle atrophy, Elevated circulating luteinizing hormone level, ... ORPHA:3044
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:95512
48,Xxxy Syndrome
Hypoplasia of penis, Small scrotum, Clinodactyly of the 5th finger, Chronic otitis media, Abnorma... ORPHA:96263
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, ... ORPHA:79083
Autosomal Recessive Spastic Paraplegia Type 26
Skeletal muscle atrophy, Premature ovarian insufficiency, Abnormality of the urinary system, Scol... ORPHA:101006
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity, Insulin resistance ORPHA:140941
Brachyolmia Type 1, Hobaek Type
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... OMIM:271530
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Alopecia, Decreased serum insulin-like growth factor ... OMIM:241080
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Ventricular septal defect, Microg... ORPHA:2256
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:300123
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:607080
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal hair quantity, Decreased fertility, Obesity, Low posterior hairline, Hypogonadism, Abnor... ORPHA:2233
Familial Partial Lipodystrophy, Dunnigan Type
Glomerulopathy, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Insulin resistance, Congestive hea... ORPHA:2348
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy ORPHA:79087
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Small hand, Obesity, Shor... ORPHA:254531
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Diabetes mellitus, Obesity, Myocardial infarction OMIM:608320
Telangiectasia, Hereditary Benign
Diffuse telangiectasia OMIM:187260
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Tapered finger, Cryptorchidism, Short toe, Kyp... OMIM:301900
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Tapered finger, Short neck, Small hand, 2-3 toe syndactyly, Poly... ORPHA:284180
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... ORPHA:753
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Bardet-Biedl Syndrome 4
External genital hypoplasia, Cryptorchidism, Obesity, Renal cyst, Hypogonadism OMIM:615982
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Delayed ossification of ... OMIM:617974
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Renal insufficiency, Renal agenesis, External genital hypoplasi... OMIM:615993
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Insulin resistance, Genera... OMIM:612526
Spondylometaphyseal Dysplasia, Pagnamenta Type
Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Shor... OMIM:619638
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Distal Deletion 10P
Hypoplasia of penis, Micrognathia, Joint stiffness, Cryptorchidism, Short neck, Polycystic ovarie... ORPHA:1580
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Hypergonadotropic hypogonadism, Secondary amenorrhea, Polycystic ovaries OMIM:268020
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Gait disturbance, Obesity, Finger joint hypermobility ORPHA:436141
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Mi... OMIM:610628
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperactivity, Reduced intraabdominal adipose tissue, Tremor... ORPHA:363400
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Decreased fertility, Obesity, Hypogonadism... ORPHA:2234
Bardet-Biedl Syndrome 2
Diabetes mellitus, External genital hypoplasia, Dilated cardiomyopathy, Obesity, Hypogonadism OMIM:615981
46,Xy Sex Reversal 4
Distal symphalangism, Hypergonadotropic hypogonadism, Micrognathia, Agonadism, Hydronephrosis, Se... OMIM:154230
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... ORPHA:1310
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Cerebrooculofacioskeletal Syndrome 1
Small for gestational age, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Coxa valga, Cryptorc... OMIM:214150
Donohue Syndrome
Skeletal muscle atrophy, Precocious puberty, Long penis, Hyperinsulinemia, Ovarian cyst, Large ha... OMIM:246200
Immunodeficiency 75 With Lymphoproliferation
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... OMIM:619126
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Luscan-Lumish Syndrome
Irregular menstruation, Obesity, Polycystic ovaries, Overgrowth, High anterior hairline, Hirsutism OMIM:616831
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Diabetes mellitus, Lipodystrophy, Abdominal obesity OMIM:615980
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance OMIM:307500
Spermatogenic Failure 17
Male infertility OMIM:617214
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Vaginal fistula ORPHA:2597
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... OMIM:146255
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi... OMIM:307800
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulde... OMIM:274000
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Micrognathia, ... ORPHA:3409
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Congenital Disorder Of Glycosylation, Type Ig
Small scrotum, Hypocalcemia, Short tibia, Micropenis, Decreased circulating IgG level, Patent for... OMIM:607143
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Micrognathia, Agenesis of pulmonary vessels, Atrial septal defec... OMIM:601186
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru... ORPHA:2141
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct... ORPHA:249
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, True hermaphroditism, Septate v... OMIM:194080
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Micrognathia, Multiple prenatal fractures, Cardiomegaly, Flexion contracture, Micrope... OMIM:616897
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... ORPHA:2235
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Dysmenorrhea, Elevated circulating creatine kinase concentration, Increased body weight, Hepatic ... ORPHA:264580
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Hyperlordosis, Cryptorchidism, Limitation of joint mobility, Nephrotic syndrome, Hyp... ORPHA:1192
Narcolepsy Type 1
Syncope, Obesity ORPHA:2073
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ... OMIM:166600
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity, Joint stiffness ORPHA:1078
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Renal malrotation, Sparse scalp hair, Decreased response to growth hormone stimulation test, High... OMIM:615866
Metatropic Dysplasia
Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal enchondral ossification, Halberd-s... ORPHA:2635
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m... ORPHA:94068
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Hypogonadism, Osteoporosis OMIM:615270
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ulnar deviation of the hand, Hypospadias, Rocker bottom foot, Adrenal hypoplasia, Micrognathia, M... OMIM:214100
Werner Syndrome
Skeletal muscle atrophy, Myocardial infarction, Abnormal hair whorl, Premature graying of hair, T... ORPHA:902
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells, Decreased ci... OMIM:620282
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene... ORPHA:750
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Perrault Syndrome 1
Ataxia, Increased circulating gonadotropin level, Osteoporosis, Gait ataxia, Gonadal dysgenesis OMIM:233400
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Single transverse palmar crease... OMIM:214110
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... OMIM:612447
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna OMIM:231095
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Splenic rupture, C... ORPHA:335
Mehmo Syndrome
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Tapered finger, Cryptorchidi... ORPHA:85282
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma,... ORPHA:3261
Immunodeficiency 61
Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Arthritis, Decreased circulating t... OMIM:300310
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Endocardial Fibroelastosis
Hypoplasia of penis, Sandal gap, Hypoglycemia, Micrognathia, Cryptorchidism, Congestive heart fai... ORPHA:2022
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Capillary Malformation-Arteriovenous Malformation 2
Telangiectasia OMIM:618196
Bardet-Biedl Syndrome 1
Micropenis, Syndactyly, Abnormality of the kidney, Nephrogenic diabetes insipidus, Insulin resist... OMIM:209900
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... OMIM:166260
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hyperactivity, Small for gestational age, Hypoglycemia, Single transverse palmar crease, Microgna... ORPHA:73272
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... OMIM:256450
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... OMIM:262600
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Hepatomegaly, Large hands, Umbilical hernia, Acute pancreatitis, Lipodystrophy... OMIM:269700
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Decreased HDL cholesterol concentration, Dysmenorrhea, Micrognathia, Increased intraabdominal fat... ORPHA:280365
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Congenital malformation of the... ORPHA:3455
Brucellosis
Liver abscess, Rheumatoid factor positive, Bronchitis, Elevated circulating C-reactive protein co... ORPHA:1304
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Myotonic Dystrophy 2
Tachycardia, Oligozoospermia, Right bundle branch block, Premature ventricular contraction, Hypog... OMIM:602668
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Micrognathia, Precocious puberty... ORPHA:96184
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... ORPHA:85184
Schimke Immunoosseous Dysplasia
Osteopenia, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentrat... OMIM:242900
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Increased T cell count, Pedal edema, Increased circulating IgG level, Inflammation of... ORPHA:98813
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Lipodystrophy, Congenital Generalized, Type 1
Hepatic steatosis, Hepatomegaly, Clitoral hypertrophy, Cardiomyopathy, Large hands, Umbilical her... OMIM:608594
Sim1-Related Prader-Willi-Like Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche... ORPHA:398079
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Cryptorchi... OMIM:602471
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... OMIM:609945
Meningioma
Back pain, Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolac... ORPHA:2495
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteopenia, Hypogonadism, Absence of pubertal development, Osteoporosis OMIM:615267
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... ORPHA:210110
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Hypospadias ORPHA:141333
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Dysmenorrhea, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, Increased... ORPHA:79240
Immunodeficiency 102
Decreased circulating IgG level, Partial absence of specific antibody response to Haemophilus inf... OMIM:301082
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Joint laxity, Pes planus, Hyperactivity, Hypospadias, Sandal gap, Aggressive behavior, Cryptorchi... OMIM:300354
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibody level, Anemia ORPHA:100024
Abdominal Obesity-Metabolic Syndrome 1
Hypertension, Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension, Abdominal obesity OMIM:605572
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Diabetes mellitus, Telangiectasia of the skin, Micrognathia, Cryptorchidism, Insulin resistance, ... OMIM:615381
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... OMIM:215045
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Brachydactyly, Delayed ossification of carpal bones, Short femoral neck, Reduced bone mineral den... OMIM:618392
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:91355
Short Stature, Dauber-Argente Type
Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers, Fasting hyperinsu... OMIM:619489
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... ORPHA:254516
Mehmo Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, A... OMIM:300148
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Decreased circulating parathyr... OMIM:241530
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Secundum atrial septal defect, Flexion contracture, Hypoplasia of the thymus, Genu ... OMIM:264090
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Bloom Syndrome
Bronchitis, Micrognathia, Adipose tissue loss, Uveitis, Otitis media, Decreased circulating IgG l... ORPHA:125
Schaaf-Yang Syndrome
Failure to thrive in infancy, Rocker bottom foot, Impulsivity, Tapered finger, Cryptorchidism, In... OMIM:615547
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... OMIM:619281
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Renal cyst OMIM:617100
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Perineural Cyst
Dyspareunia, Recurrent urinary tract infections, Urinary incontinence, Inability to walk, Neuroge... ORPHA:65250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Short Stature, Microcephaly, And Endocrine Dysfunction
Ectopic kidney, Simplified gyral pattern, Dysmetria, Micropenis, Hypothyroidism, Ataxia, Cryptorc... OMIM:616541
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... OMIM:600081
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Intellectual Developmental Disorder, Autosomal Recessive 6
Impaired social interactions OMIM:611092
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... ORPHA:98793
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... ORPHA:470
Galactokinase Deficiency
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Small for gestatio... ORPHA:79237
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... ORPHA:98754
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporo... ORPHA:93351
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Hypergonadotropic hypogonadism, Absent facial hair, Obesity, Low posterior ha... ORPHA:2183
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Alopecia of scalp, Hypogonadism, Decreased serum testosterone concentration, Failur... OMIM:201100
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... ORPHA:177904
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... ORPHA:277
Cowden Syndrome 1
Hyperthyroidism, Micrognathia, Kyphosis, Thyroiditis, Palmoplantar hyperkeratosis, Hydrocele test... OMIM:158350
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia OMIM:601457
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le... OMIM:300554
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... ORPHA:177901
Bardet-Biedl Syndrome 6
Diabetes mellitus, Hypospadias, External genital hypoplasia, Obesity, Renal cyst, Vaginal atresia OMIM:605231
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Bardet-Biedl Syndrome 8
Hypogonadism, Hypospadias, Obesity OMIM:615985
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Acute pancreat... OMIM:151660
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Robinow Syndrome
Small scrotum, External genital hypoplasia, Micrognathia, Hemivertebrae, Clitoral hypoplasia, Web... ORPHA:97360
Alagille Syndrome
Hypoplasia of the ulna, Atrial septal defect, Hepatomegaly, Ventricular septal defect, Micrognath... ORPHA:52
Laurence-Moon Syndrome
Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Ataxia, Bilateral single transverse ... ORPHA:2377
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Periventricular nodular heterotopia, Micrognathia, Cryptorchidism, Ulnar ... OMIM:619135
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Abnormality of the uterus OMIM:617805
Microduplication Xp11.22P11.23 Syndrome
Precocious puberty, Obesity ORPHA:217377
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Diabetes mellitus, Hypospadias, Hyperactivity, Cryptorchidism, Short metatarsal... OMIM:614613
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro... OMIM:301033
Grant Syndrome
Bowing of the long bones, Micrognathia, Decreased skull ossification, Joint hyperflexibility, Abn... ORPHA:2097
Wilson-Turner Syndrome
Pes planus, Hypogonadotropic hypogonadism, Tapered finger, Micrognathia, Cryptorchidism, Small ha... ORPHA:3459
Carpenter Syndrome 1
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Micrognathia, Cli... OMIM:201000
Ataxia-Telangiectasia
Sinusitis, Choreoathetosis, T lymphocytopenia, Glucose intolerance, Hypoplasia of the thymus, Dec... OMIM:208900
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... OMIM:607594
22Q11.2 Deletion Syndrome
Impaired T cell function, Micrognathia, Abnormal lung lobation, Hypoplasia of the thymus, Abnorma... ORPHA:567
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Impulsivity, Supernumerary nipple, Periventricular heterotopia, Cryptorchidism, Int... OMIM:618929
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Cowden Syndrome 6
Hyperthyroidism, Micrognathia, Kyphosis, Thyroiditis, Palmoplantar hyperkeratosis, Hydrocele test... OMIM:615109
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin... OMIM:300400
Short Syndrome
Joint laxity, Enlarged epiphyses, Small for gestational age, Micrognathia, Insulin-resistant diab... OMIM:269880
Distal Duplication 5Q
Hypoplasia of the ulna, Hypospadias, Ventricular septal defect, Craniosynostosis, Micrognathia, A... ORPHA:96097
Prader-Willi Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... OMIM:176270
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Precocious puberty, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the... OMIM:619269
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia... ORPHA:456328
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Hypercholesterolemia, Neonatal hy... ORPHA:90674
Intellectual Developmental Disorder, X-Linked 97
Synophrys, Obesity OMIM:300803
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Craniosynostosis, Microgna... ORPHA:171839
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna... OMIM:613848
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... OMIM:300888
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Hallux valgus, Proteinuria, Arachnodactyly, Eczema, Minimal change g... OMIM:618348
Atelosteogenesis, Type I
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia... OMIM:108720
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Hypospadias, Broad hallux, Craniosynostosis, 1-3 toe syndactyly, Abnormal m... OMIM:175700
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte prolife... ORPHA:99867
Orthostatic Hypotension 1
Reduced circulating prolactin concentration, Neonatal hypoglycemia, Hypomagnesemia, Nocturia, Ret... OMIM:223360
Hyperparathyroidism, Transient Neonatal
Osteopenia, Hyperparathyroidism, Short femur, Inguinal hernia, Metaphyseal spurs, Unilateral rena... OMIM:618188
Coccidioidomycosis
Abnormality of the spleen, Abnormal long bone morphology, Increased circulating IgG level, Abnorm... ORPHA:228123
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Abnormal foot morphology, Rickets, Increased susceptibility to... OMIM:146300
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change g... ORPHA:1830
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency
Male pseudohermaphroditism, Hypothyroidism, Infertility, Female external genitalia in individual ... OMIM:264300
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Anti-th... OMIM:618534
Diastrophic Dysplasia
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Jo... ORPHA:628
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
Chung-Jansen Syndrome
Impulsivity, Tapered finger, Micrognathia, Cryptorchidism, Aggressive behavior, Obesity, Hip dysp... OMIM:617991
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Craniosynostosis, Abn... ORPHA:65759
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased muscle mass, Decreased response to growth hormone stimulation test, Micrognathia, Hyper... ORPHA:96182
Pseudohypoparathyroidism Type 1C
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79444
Kallmann Syndrome
Hypoplasia of penis, Reduced bone mineral density, Micropenis, Hypogonadotropic hypogonadism, Ata... ORPHA:478
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... ORPHA:226307
Osteopetrosis, Autosomal Recessive 9
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis OMIM:620366
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus OMIM:612227
Cowden Syndrome 5
Hyperthyroidism, Micrognathia, Kyphosis, Thyroiditis, Palmoplantar hyperkeratosis, Hydrocele test... OMIM:615108
Non-Acquired Panhypopituitarism
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... ORPHA:90695
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Micrognathia, Oligosacchariduria, Nephrocalcinosis, Aminoacid... ORPHA:534
Igg4-Related Kidney Disease
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Lymphadenitis,... ORPHA:449395
Acquired Generalized Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Proteinuria, Autoimmunity, Acu... ORPHA:79086
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Abnormality of the lower limb, Rickets, Osteomalacia OMIM:193100
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Micropenis, Childhood-onset truncal obesity OMIM:610156
3M Syndrome
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Hypospadias, Rocker bottom ... ORPHA:2616
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia, Primary amenorrhea OMIM:191830
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... OMIM:611926
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Eczema, Decreased proportion of CD8-posi... OMIM:617241
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity ORPHA:177910
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Increased body weigh... ORPHA:398069
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... OMIM:264700
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Nocturia, El... ORPHA:230
Gordon Holmes Syndrome
Secondary amenorrhea, Hypogonadotropic hypogonadism, Oligomenorrhea, Primary amenorrhea OMIM:212840
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Cryptorchidism, Osteoporosis, Genu valgum, Micropenis, Decreased testicular size OMIM:614880
Adiposis Dolorosa
Depression, Obesity, Painful subcutaneous lipomas OMIM:103200
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
Bardet-Biedl Syndrome 19
Renal insufficiency, Ventricular septal defect, External genital hypoplasia, Mesoaxial hand polyd... OMIM:615996
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... OMIM:277440
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Osteopenia, Short metacarpal, Diabetes mellitus, Small for gestational age, Rhizomelia, Brachydac... OMIM:614813
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Autoimmune thrombocytopenia, Ab... OMIM:102700
Cln3 Disease
Ataxia, Left ventricular hypertrophy, Acne, Aggressive behavior, Vacuolated lymphocytes, Increase... ORPHA:228346
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parathyroid hormone ... ORPHA:157215
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity ORPHA:363741
Classic Galactosemia
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... ORPHA:79239
Bardet-Biedl Syndrome 12
Hydrometrocolpos, Obesity, Hypogonadism, Vaginal atresia, Cystic renal dysplasia OMIM:615989
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Chilblains, I... OMIM:619858
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intestine, Periodo... ORPHA:79259
Leukodystrophy, Hypomyelinating, 24
Hypothyroidism, B lymphocytopenia OMIM:619851
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Recurrent respirato... ORPHA:3041
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Osteopenia, Small scrotum, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesit... OMIM:614231
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Renal sa... OMIM:300200
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Increased bone mineral density, Micrognathia ORPHA:1237
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Joint laxity, Hypospadias, Glomerulonephritis, Proteinuria, Ataxia, Single transverse palmar crea... OMIM:619428
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy... ORPHA:157965
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Prolonged QRS complex, Decreased response to growth hormone stimulation ... ORPHA:273
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Laron Syndrome
Hypoplasia of penis, Hypoglycemia, Micrognathia, Abnormality of the endocrine system, Short toe, ... ORPHA:633
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Ataxia, Micrognathia, Flexion contracture, Small hand, Obesity, Emotional lability,... OMIM:300055
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Micrognathia, Delayed early-childhood social m... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Micrognathia, Delayed early-childhood social m... ORPHA:99228
Monosomy X
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Micrognathia, Delayed early-childhood social m... ORPHA:99226
Turner Syndrome
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Micrognathia, Delayed early-childhood social m... ORPHA:881
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Joint hypermobility, Recurrent fractures, Micrognathia, F... OMIM:617952
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Arachnodactyly, Minimal change glomerulonephritis, Micr... OMIM:616730
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Single transverse palmar crease, Secundum atrial septal defect, Leukopenia, Hypoplasia of the thy... OMIM:612541
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Clinodactyly of the 5th finger, Axial malrotation of the kidney, Phocomelia, Genu v... ORPHA:3320
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp... ORPHA:73
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Hypothyroidism, Uterus didelphys ORPHA:2491
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Craniosynostosis, Congenital hypothyroidism ORPHA:88643
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures OMIM:615066
Alg12-Cdg
Proximal placement of thumb, Micrognathia, Recurrent hypoglycemia, Hypoalbuminemia, Abnormal bone... ORPHA:79324
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A... ORPHA:95494
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency 27A
Increased inflammatory response, Hypoplasia of the femoral head, Pneumonia, Anorexia, Rheumatoid ... OMIM:209950
15Q24 Microdeletion Syndrome
Joint laxity, Hypospadias, Decreased response to growth hormone stimulation test, Proximal placem... ORPHA:94065
Obesity Due To Sim1 Deficiency
Increased resting energy expenditure, Hyperinsulinemia, Obesity, Glucose intolerance, Cognitive i... ORPHA:369873
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Premature thelarche, Abnormal hand morphology, Osteolysis involving bones of the uppe... ORPHA:371428
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Hypoplasia of the ovary, Osteosclerosis of the base of the skull OMIM:609993
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Genu v... ORPHA:93160
Summitt Syndrome
Obesity, Craniosynostosis OMIM:272350
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Proteinuria, Arachnodactyly, Stage 5 chronic kidney disease, Congeni... OMIM:619609
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Cryptorchidism, Unsteady gait, Genu valgum, Irritability,... OMIM:617798
Rothmund-Thomson Syndrome
Osteopenia, Aplastic anemia, Reduced bone mineral density, Neutropenia, Calcinosis, Hypoplasia of... ORPHA:2909
Infantile Systemic Hyalinosis
Osteopenia, Camptodactyly of finger, Micromelia, Osteomalacia, Recurrent fractures, Joint stiffne... ORPHA:2176
Al Amyloidosis
Howell-Jolly bodies, Xerostomia, Abnormal salivary gland morphology, Abnormal EKG, Abnormality of... ORPHA:85443
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Type II diabetes mellitus, Gout OMIM:610947
Ck Syndrome
Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility, Micrognathia OMIM:300831
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Short toe, Short metatarsal, Pseudohypoparathyroidism, Osteoporosis, Obesity, E... OMIM:103580
Caudal Duplication
Abnormal penis morphology, Cryptorchidism, Uterus didelphys ORPHA:1756
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... ORPHA:56304
Cednik Syndrome
Ataxia, Proteinuria, Diffuse palmoplantar hyperkeratosis, Nephrotic syndrome, Hypogonadism, Pachy... ORPHA:66631
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal... ORPHA:791
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Spastic Paraplegia 26, Autosomal Recessive
Distal lower limb amyotrophy, Lower limb muscle weakness, Urinary urgency, Upper limb muscle weak... OMIM:609195
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Micrognathia, Limitation of joint mobility, Slender long bone, Abnormal hip ... ORPHA:1486
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Hepatomegaly, Decreased specific pneumococcal antibody level, G... OMIM:613496
Paternal Uniparental Disomy Of Chromosome X
Short metacarpal, Short neck, Low posterior hairline, Infertility, Micropenis, Decreased testicul... ORPHA:261524
Ulnar-Mammary Syndrome
Hypoplasia of penis, Aplasia of the pectoralis major muscle, Abnormal finger morphology, Abnormal... ORPHA:3138
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Increased subcutaneous truncal adipo... OMIM:608600
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lipodystrophy, Skin rash, Elevated circulating C-reactive protein concen... OMIM:618048
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia, Overgrowth, Obesity OMIM:620195
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti... ORPHA:85450
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li... OMIM:147750
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Obesity OMIM:300238
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Immunodeficiency 48
Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen... OMIM:269840
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Pseudohypoparathyroidism Type 1A
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:79443
19P13.12 Microdeletion Syndrome
Finger syndactyly, Toe clinodactyly, Hyperactivity, Hypospadias, Sandal gap, Craniosynostosis, At... ORPHA:254346
Pituitary Gigantism
Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati... ORPHA:99725
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... ORPHA:2457
Williams Syndrome
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase conc... ORPHA:904
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis OMIM:204730
Hand-Foot-Genital Syndrome
Bifid scrotum, Shortening of all middle phalanges of the fingers, Hypospadias, Proximal placement... OMIM:140000
Chromosome 17Q12 Deletion Syndrome
Micrognathia, Renal cyst, Short palm, Long toe, Multicystic kidney dysplasia, Highly arched eyebr... OMIM:614527
Prader-Willi Syndrome
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... ORPHA:739
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Flatten... ORPHA:1856
Autosomal Recessive Spastic Paraplegia Type 46
Broad-based gait, Ataxia, Urinary incontinence, Reduced sperm motility, Infertility, Difficulty w... ORPHA:320391
Intellectual Developmental Disorder, X-Linked 91
Obesity, Low posterior hairline OMIM:300577
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Nephrocalcinosis, Clitoral hypoplasia, Short palm, Micropenis, Duplication of the d... OMIM:268310
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Autoimmunity, Mesangial hyp... ORPHA:329918
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Elevated circulating thyroid-stimulating hormone concentration, Short metatarsa... OMIM:612462
Proteus Syndrome
Mandibular hyperostosis, Hypertrophy of skin of soles, Calvarial hyperostosis, Facial hyperostosi... OMIM:176920
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil c... OMIM:618986
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Ankle swelling, Abnormality of the kidney, Orchitis, Lymphadenit... ORPHA:2035
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Spondyloepiphyseal Dysplasia Tarda
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... ORPHA:93284
7Q11.23 Microduplication Syndrome
Single transverse palmar crease, Congenital diaphragmatic hernia, Micrognathia, Simplified gyral ... ORPHA:96121
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Pulmonary embolism, Chronic kidney disease, Stage 5 chronic ki... ORPHA:567546
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Ataxia, Large for gestational... OMIM:615398
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... OMIM:247800
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Omphalocele, Encephalocele, Rhizomelia, Postaxial polydactyly, Cryptorchidism,... OMIM:616300
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Splenomegaly, Chronic lymphatic leukemia, Increased circulating ... OMIM:616005
Alg6-Cdg
Ataxia, Puberty and gonadal disorders, Jaundice, Decreased LDL cholesterol concentration, Shorten... ORPHA:79320
Senior-Loken Syndrome 9
Osteopenia, Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Obesity, Cholestasis,... OMIM:616629
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, T lymphocytopenia, Narrow greater sciatic notch, Decreased ... ORPHA:508533
Roifman Syndrome
Hip contracture, Epiphyseal dysplasia, Noncompaction cardiomyopathy, Hypogonadotropic hypogonadis... ORPHA:353298
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... ORPHA:1359
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... ORPHA:53
Pgm3-Cdg
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Decreased/absent ankle reflexes, Leukopenia, ... ORPHA:443811
Combined Oxidative Phosphorylation Deficiency 54
Microretrognathia, Tachycardia, Hypergonadotropic hypogonadism, Retrobulbar optic neuritis, Obesi... OMIM:619737
Cornelia De Lange Syndrome 5
Toe syndactyly, Proximal placement of thumb, Micrognathia, Cryptorchidism, Small hand, Short foot... OMIM:300882
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Flexion contracture, Renal cyst, Dysmetria, Hypoalbuminemia, Hepatic fibrosis, Hypoch... OMIM:212065
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Smith-Magenis Syndrome
Micrognathia, Clinodactyly of the 5th finger, Chronic otitis media, Abnormal repetitive mannerism... ORPHA:819
Atypical Werner Syndrome
Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Fin... ORPHA:79474
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ... ORPHA:289157
Pde4D Haploinsufficiency Syndrome
Micrognathia, Short metatarsal, Elevated circulating parathyroid hormone level, Bilateral coxa va... ORPHA:439822
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Hypoplasia of the ut... OMIM:261540
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis ORPHA:1522
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Abnormal blood ion concentration, Tubuloin... ORPHA:37042
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,... ORPHA:958
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Central Precocious Puberty In Male
Acne, Abnormality of the testis size, Pituitary microadenoma, Overgrowth, Abnormality of secondar... ORPHA:649929
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Maculo... OMIM:619644
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy, Obesity OMIM:620270
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... OMIM:256300
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Decreased proportion of margi... OMIM:619375
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Decreased... OMIM:618944
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Generalized joint laxity, Genu varum, Patellar hypoplasia, Short femoral ne... OMIM:609325
Whipple Disease
Myositis, Anorexia, Pedal edema, Uveitis, Hypothyroidism, Infectious encephalitis, Hyponatremia, ... ORPHA:3452
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Acne, Frontal balding, Preco... ORPHA:786
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Elevated circulating luteinizing hormone level, Congestive... OMIM:617253
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... OMIM:274300
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Micrognathia, Coxa valga, Flat acetabular roof, Flattened epiphys... ORPHA:163649
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Broad eyebrow, Hypospadias, Micrognathia, Sparse eyebrow, Cryptorchidism, Hypoplastic labia minor... ORPHA:495875
Progressive Pseudorheumatoid Dysplasia
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, En... OMIM:208230
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... OMIM:603554
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Postinfectious Vasculitis
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Anorexia, Gast... ORPHA:48435
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Hepatomegaly, Proteinuria, Hypoglycemia, Abnormality of the kidney, Hepatocellular ca... ORPHA:369
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperglycemia, Hyperinsulinemia, Obesity ORPHA:329249
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... ORPHA:730
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... OMIM:256040
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
11Q22.2Q22.3 Microdeletion Syndrome
Bilateral single transverse palmar creases, Micrognathia, Small hand, Obesity, Short foot, Compul... ORPHA:444002
Renal, Genital, And Middle Ear Anomalies
Vaginal atresia OMIM:267400
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
External genital hypoplasia, Single transverse palmar crease, Micrognathia, Large for gestational... ORPHA:96334
Peters Plus Syndrome
Ureteral duplication, Micromelia, Micrognathia, Short neck, Clitoral hypoplasia, Clinodactyly of ... ORPHA:709
Wagr Syndrome
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus, Obesity ORPHA:893
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Impulsivity, Micrognathia, Aggressive behavior, Cryptorchidism, Pachygyria, Polymi... OMIM:604317
Galloway-Mowat Syndrome 6
Proteinuria, Decreased response to growth hormone stimulation test, Abnormal repetitive mannerism... OMIM:618347
Alström Syndrome
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... ORPHA:64
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hypothyroidism, Self-mutilation, Hepatic steatosis... OMIM:619487
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Abnormal fallopian tube morphology, Prostate cancer, Ovarian neoplasm ORPHA:145
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestat... ORPHA:324575
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Immunodeficiency 43
Decreased circulating IgG level, Hypoplasia of the ulna, Recurrent respiratory infections, Radial... OMIM:241600
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist... OMIM:614856
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Tubulointerstitial nephritis, ... ORPHA:289390
Interstitial Cystitis
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... ORPHA:37202
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Smith-Magenis Syndrome
Pes planus, Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Abnormal renal... OMIM:182290
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Eczema, Increased circulating IgE ... OMIM:304790
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormal hair pattern, Renal hypoplasia/aplasia, Abnormality of the ureter, Polycystic ovaries, L... ORPHA:1770
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Impulsivity, Tapered finger, Cryptorchidism, Generalized joint laxity, Recurrent upper respirator... ORPHA:589905
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Ectopic kidney, Large for gestational age, Gonadotropin defici... ORPHA:672
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Dent Disease 1
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le... OMIM:300009
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi... OMIM:210710
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders,... ORPHA:85293
Spastic Ataxia-Corneal Dystrophy Syndrome
Spastic ataxia, Ataxia, Gait disturbance, Decreased circulating antibody level ORPHA:2572
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton... OMIM:613779
Seckel Syndrome 1
Abnormal finger flexion crease, Single transverse palmar crease, Micrognathia, Clinodactyly of th... OMIM:210600
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Truncal obesity, Neona... ORPHA:293964
Intellectual Developmental Disorder, X-Linked 12
Joint laxity, Increased body mass index, Small for gestational age, Cryptorchidism, Abnormality o... OMIM:300957
Trisomy 5P
Hypoplasia of penis, Obesity ORPHA:1742
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Hyperactivity, Small for gestational age, Eczema, Decreased palmar creases, Micr... ORPHA:352490
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... ORPHA:3258
Boomerang Dysplasia
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Decreased re... ORPHA:1263
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... OMIM:615954
Autoimmune Hepatitis
Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG... ORPHA:2137
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Micromelia, Limitation of joint mobility, Lateral humeral condyle aplasi... ORPHA:2741
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Glucose intolerance, Hepatic steatosis, Acne, Osteoporosis, Depression, In... ORPHA:189427
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Joint laxity, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight... ORPHA:486815
Moyamoya Disease
Telangiectasia ORPHA:2573
Digeorge Syndrome
Impaired T cell function, Micrognathia, Parathyroid hypoplasia, Abnormal thymus morphology, Hypop... OMIM:188400
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Tapered finger, Stage 5 ... OMIM:617730
Cach Syndrome
Premature ovarian insufficiency, T2 hypointense thalamus, Flexion contracture, Renal hypoplasia, ... ORPHA:135
Familial Multiple Lipomatosis
Overgrowth, Insulin resistance, Lipodystrophy, Increased adipose tissue ORPHA:199276
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Recurrent fractures, Osteopetrosis OMIM:611490
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Micrognathia, Aplasia of the bladder, Hypoplasia of the ulna, Sp... OMIM:200980
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism,... ORPHA:110
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hypoplastic verte... ORPHA:1782
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Supernumerary nipple, Rhizomelia,... OMIM:614376
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... ORPHA:93333
Ulnar-Mammary Syndrome
Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas... OMIM:181450
Telangiectasia, Hereditary Hemorrhagic, Type 5
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia OMIM:615506
Hypercholanemia, Familial 1
Rickets OMIM:607748
Charge Syndrome
External genital hypoplasia, Decreased response to growth hormone stimulation test, Micrognathia,... OMIM:214800
Pseudohermaphroditism, Female, With Skeletal Anomalies
Ambiguous genitalia, Primary amenorrhea, Clitoral hypertrophy OMIM:264270
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... ORPHA:93405
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... OMIM:603909
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Renal cyst, Hepat... OMIM:208500
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Recurrent respiratory infections, Postaxial polydactyly, Cryptorchidism, Obesity, Nephrocalcinosi... OMIM:615633
Coxoauricular Syndrome
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... ORPHA:1508
Bruck Syndrome 1
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Osteoporosis, Elbo... OMIM:259450
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Junctional ectopic tachycardia, Hypoplas... OMIM:309801
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, De... ORPHA:169154
11P15.4 Microduplication Syndrome
Synophrys, Obesity, Highly arched eyebrow ORPHA:300305
Achondroplasia
Brachydactyly, Radial bowing, Limited hip extension, Rhizomelia, Short femur, Bowing of the legs,... OMIM:100800
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Joint laxity, Arachnodactyly, Glomerulonephritis, Chronic kidney disease, Disproportionate tall s... ORPHA:2172
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Eczema, Abnormality of the endocrine system, Cryptorchidism, Renal hypop... ORPHA:464288
Weismann-Netter Syndrome
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... OMIM:112350
Idiopathic Hypercalciuria
Osteopenia, Osteoporosis ORPHA:2197
Melnick-Needles Syndrome
Craniofacial hyperostosis, Bowing of the long bones, Micrognathia, Coxa valga, Hip dislocation, O... ORPHA:2484
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... ORPHA:3077
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Supern... OMIM:263750
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancr... ORPHA:276608
Leprechaunism
Skeletal muscle atrophy, Nephrocalcinosis, Increased circulating renin level, Recurrent infantile... ORPHA:508
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Abnormality of the ureter, Clubbing, Ovarian cyst, Iron deficiency anem... OMIM:175200
Familial Glucocorticoid Deficiency
Decreased circulating cortisol level, Ketotic hypoglycemia, Renal salt wasting, Hypoglycemic seiz... ORPHA:361
Clark-Baraitser syndrome
Joint laxity, Genu recurvatum, Tapered finger, Obesity, Broad palm, Genu valgum, Short palm, Macr... OMIM:300602
Congenital Myopathy 9A
Cryptorchidism, Obesity OMIM:618822
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density ORPHA:1114
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Ventricular septal defect, Unilateral renal agenesis, Aggressive behavior, Precoci... ORPHA:3306
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
Wagro Syndrome
Proteinuria, Nephroblastoma, Micrognathia, Aggressive behavior, Obesity, Agitation, Low frustrati... OMIM:612469
Camptobrachydactyly
Camptodactyly of finger, Septate vagina ORPHA:1319
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Hypotension, Dela... ORPHA:2965
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis, Flared metaphysi... OMIM:259700
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Single transverse palmar crease, Overweigh... ORPHA:457240
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Postnatal g... OMIM:618160
Morm Syndrome
Truncal obesity, Micropenis ORPHA:75858
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Omodysplasia 2
Micrognathia, Clitoral hypoplasia, Limited elbow flexion, Clinodactyly of the 5th finger, Micrope... OMIM:164745
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Arachnodactyly, Minimal change glomerulonephritis, Micrognathia, Stage 5 chronic kid... OMIM:301006
Megalencephaly
Short neck, Long penis, Genu valgum, Truncal obesity, Macroorchidism ORPHA:2477
Brachydactyly Type A1
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... ORPHA:93388
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hypogonadotropic hypogonadism, Osteoporosis, Micropenis, Clinodactyly, Decreased testicular size OMIM:614838
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar... ORPHA:77296
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Elevated circulating parathyroid hormone ... OMIM:613388
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Skeletal muscle atrophy, Abnormal mitochondrial shape, Hypospadias, Short femur, H... ORPHA:17
Systemic Lupus Erythematosus 16
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula... OMIM:614420
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone marrow hypoce... OMIM:301078
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Broad-based gait, Ataxia, Inability to walk, Obesity OMIM:616756
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona... ORPHA:567548
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Small scrotum, Tapered finger, Cryptorchidism, Short toe, Joint hyperflexibi... ORPHA:127
Atkin-Flaitz Syndrome
Macroorchidism, Obesity ORPHA:1193
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Proteus-Like Syndrome
Thymus hyperplasia, Genu recurvatum, Lower limb asymmetry, Splenomegaly, Abnormality of the parat... ORPHA:2969
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Alopecia, Adrenal hyperplasia, Diabetes mellitus, Dorsocervical fat pad, Osteoporosis... OMIM:615830
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing OMIM:126550
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Bicuspid aortic valve, Anemia of inadequate production, Absent thumb, Uni... OMIM:614900
Multiple Epiphyseal Dysplasia Type 4
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... ORPHA:93307
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... ORPHA:1860
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Alstrom Syndrome
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... OMIM:203800
Uv-Sensitive Syndrome 3
Telangiectasia OMIM:614640
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circula... OMIM:602450
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Tatton-Brown-Rahman Syndrome
Aggressive behavior, Cryptorchidism, Short toe, Obesity, Widely spaced toes, Proportionate tall s... ORPHA:404443
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Macrocephaly/Autism Syndrome
Joint laxity, Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, D... OMIM:605309
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Osteomalacia, Joint stiffness, Micrognathia, Coxa valga, Avascular necrosis of the ca... ORPHA:1901
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Micrognathia, Absent frontal sinuses, Abn... OMIM:224300
Cystinosis, Nephropathic
Oral-pharyngeal dysphagia, Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molec... OMIM:219800
13Q12.3 Microdeletion Syndrome
Recurrent respiratory infections, Hyperactivity, Congenital diaphragmatic hernia, Cryptorchidism,... ORPHA:412035
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Donnai-Barrow Syndrome
Widow's peak, Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Osteogenesis Imperfecta, Type Xxi
Pes planus, Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Pes val... OMIM:619131
Bent Bone Dysplasia Syndrome 2
Osteopenia, Atrial septal defect, Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar... OMIM:620076
Frasier Syndrome
Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Primary amenorrhea, Foca... OMIM:136680
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Hypoplasia of penis, Small scrotum, Abnormal dental enamel morp... ORPHA:861
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Mental Retardation Syndrome, Mietens-Weber Type
Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Dis... OMIM:249600
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... OMIM:601859
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... ORPHA:331206
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Poems Syndrome
Sclerosis of hand bone, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Metaphyseal scl... ORPHA:2905
Mccune-Albright Syndrome
Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm... OMIM:174800
H Syndrome
Microcytic anemia, Hernia, Micropenis, Psoriasiform dermatitis, Abnormality of the kidney, Recurr... ORPHA:168569
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Ankle swelling, Congen... OMIM:166300
Simple Cryoglobulinemia
Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Mesangial hypercellularity, ... ORPHA:91139
Phocomelia, Schinzel Type
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Talipes, Micromelia, Micrognathia, ... ORPHA:2879
Gapo Syndrome
Alopecia, Sparse eyelashes, Dysmenorrhea, Micrognathia, Sparse eyebrow, Early balding, Nephrolith... ORPHA:2067
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Recurrent fractures, Craniosynostosis, Abn... ORPHA:251004
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kina... OMIM:613327
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wi... OMIM:613091
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Fanconi Renotubular Syndrome 3
Rickets, Bowing of the legs OMIM:615605
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... OMIM:112910
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity OMIM:300209
Activated Pi3K-Delta Syndrome
Splenomegaly, Lymphadenopathy, Decreased circulating antibody level, Increased circulating IgM le... ORPHA:397596
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Down-sloping shoulders, Kyphoscoliosis, Micrognathia, Hyperlordosis, C... OMIM:616817
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Hydrocele testis, Multiple lipomas, Overgrowth, Ovarian serous cystadenoma ORPHA:276280
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... OMIM:112250
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, External genital hypoplasia, Obesity OMIM:600151
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Cone-shaped epiphysis, Osteoporosis ORPHA:71267
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Wrist swelling, Bicarbonaturia, Aminoaciduria... OMIM:309000
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Hypoplastic labia majora, Disproporti... OMIM:619217
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Systemic Sclerosis
Flexion contracture, Intestinal bleeding, Alopecia, Abnormality of the kidney, Raynaud phenomenon... ORPHA:90291
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Broad hallux, Renal agenesis, Micrognathia, Ectopic kidney, H... OMIM:212780
Coffin-Siris Syndrome 8
Hyperactivity, Inguinal hernia, Eczema, Aggressive behavior, Cryptorchidism, Self-injurious behav... OMIM:618362
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, P... ORPHA:90790
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:619510
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Hematuria, Nephrotic syndro... OMIM:613913
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Tachycardia, Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinem... ORPHA:276580
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Hip dislocation, Obesity, Knee ... OMIM:618395
Joubert Syndrome 37
Decreased testicular size, Hepatomegaly, Postaxial polydactyly, Cryptorchidism, Obesity, Micropen... OMIM:619185
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Decreased circulating antibody lev... ORPHA:1445
Stuve-Wiedemann Syndrome 1
Single transverse palmar crease, Micrognathia, Femoral bowing, Knee flexion contracture, Tibial b... OMIM:601559
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Parathyroid hyperplasia, Rickets, Elevated circulating parathyroid hormone l... OMIM:612089
Insulin-Like Growth Factor I Deficiency
Osteopenia, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone con... OMIM:608747
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Nodular pattern on pulmonary HRCT, ... ORPHA:99931
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis, Obesity ORPHA:2206
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Hepatosplenomegaly, Lymphaden... ORPHA:911
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Polyphagia, Obesity OMIM:617885
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... ORPHA:3163
X-Linked Acrogigantism
Increased body mass index, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level,... ORPHA:300373
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Splenomegaly, Proximal femoral metaphyseal irregularity, Recurrent pneumonia, Coxa va... OMIM:602271
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Immunodeficiency 95
Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul... OMIM:619773
Tricho-Dento-Osseous Syndrome
Finger clinodactyly, Increased bone mineral density ORPHA:3352
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micrognathia OMIM:277150
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Enuresis, Self-injurious behavior, Co... OMIM:613670
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, ... OMIM:276820
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Renal hypoplasia/aplasia, Micrognathia, Cryptorchidism, Midshaft hypospa... ORPHA:2863
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Genu recurvatum, Acute rhabdomyoly... OMIM:604168
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Syndactyly, Encephalocele, Periventricular nodular heterotopia... OMIM:603671
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Roberts-Sc Phocomelia Syndrome
Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Atrial septal defect, Wrist ... OMIM:268300
Pseudoleprechaunism Syndrome, Patterson Type
Diabetes mellitus, Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyph... ORPHA:2976
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... OMIM:614069
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... OMIM:259600
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Irregular menstruation, Obesity OMIM:615986
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology ORPHA:2123
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Bowing of the legs ORPHA:89937
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Hypogonadotropic hypogonadism, Broad hallux, Overlapping toe, Microcytic anemia, Micrognathia, Cr... ORPHA:293967
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Camptobrachydactyly
Congenital finger flexion contractures, Septate vagina OMIM:114150
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Mirage Syndrome
Adrenal hypoplasia, Intracranial hemorrhage, Leukopenia, Microphallus, Aspiration pneumonia, Hypo... OMIM:617053
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Fai... OMIM:615816
Pseudopseudohypoparathyroidism
Short metacarpal, Short metatarsal, Osteoporosis, Pseudohypoparathyroidism, Brachydactyly OMIM:612463
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Gen... ORPHA:89936
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypoalbuminemia, Hepatic fibrosis,... ORPHA:247585
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Proximal placement of thumb, Absent thumb, Cryptorchidism, Short thu... OMIM:613390
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Micrognathia, Postaxial polydactyly, Complete atrioventricula... OMIM:617925
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Polydipsia, Polyuria, Mesoaxial hand polydactyly,... OMIM:615994
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Camptodactyly of finger, Knee osteoarthritis, Bone cyst, Osteoporosis, Coxa vara, Short femoral n... ORPHA:2848
Laurence-Moon Syndrome
Micropenis, Small scrotum, Obesity OMIM:245800
Free Sialic Acid Storage Disease
Recurrent respiratory infections, Hepatomegaly, Proteinuria, Failure to thrive in infancy, Ataxia... ORPHA:834
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I... OMIM:613652
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement OMIM:276821
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Arachnodactyly, Micrognathia, Hip dislocation, Stage 5 ... OMIM:617729
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... OMIM:619855
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Pseudopseudohypoparathyroidism
Abnormality of the endocrine system, Ectopic ossification, Elevated circulating parathyroid hormo... ORPHA:79445
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Arrhythmia, Premature ovarian insufficiency ORPHA:2928
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Joint stiffness, Metatarsus ad... ORPHA:2249
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis, Micrognathia OMIM:617306
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up... ORPHA:99885
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Tarsal syno... ORPHA:1307
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... OMIM:239000
Glycogen Storage Disease Vi
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, H... OMIM:232700
Beaulieu-Boycott-Innes Syndrome
High anterior hairline, Premature ovarian insufficiency, Endometriosis OMIM:613680
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal hair whorl, Inguinal hernia, Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... OMIM:259710
49,Xxxxy Syndrome
Hypoplasia of penis, Small scrotum, Pulmonary embolism, Short neck, Chronic otitis media, Clinoda... ORPHA:96264
Fanconi Anemia, Complementation Group F
Atrial septal defect, Failure to thrive, Decreased response to growth hormone stimulation test, P... OMIM:603467
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Reduced subcutaneous adipose tissue, Abnormal renal glomerulus morphology, Renal insufficiency, M... OMIM:137940
2Q23.1 Microdeletion Syndrome
Hypoplasia of penis, Hyperactivity, Sandal gap, Ataxia, Cryptorchidism, Polyphagia, Self-injuriou... ORPHA:228402
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Restlessness, Stiff neck, Ataxia, Pneumonia, Sinusitis, Respiratory tract in... ORPHA:68
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Spastic Paraplegia-Nephritis-Deafness Syndrome
Clinodactyly of the 5th finger, Nephropathy, Proteinuria, Gait disturbance ORPHA:2820
Majeed Syndrome
Flexion contracture, Glomerulopathy, Increased bone mineral density, Hepatomegaly, Acne, Congenit... ORPHA:77297
Duane-Radial Ray Syndrome
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Atrial se... OMIM:607323
Renal Hypoplasia, Bilateral
Failure to thrive, Proteinuria, Small for gestational age, Cryptorchidism, Chronic kidney disease... ORPHA:97362
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, External genital hypoplasia, Decreased response to growth hormone ... ORPHA:177907
Cornelia De Lange Syndrome 1
Single transverse palmar crease, Micromelia, Ectopic kidney, Micrognathia, Proximal placement of ... OMIM:122470
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Tachycardia, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic se... ORPHA:276575
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis, Short metatarsal, ... OMIM:251450
Bruck Syndrome 2
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... OMIM:609220
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Truncal ... OMIM:219080
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Leuk... OMIM:615934
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
Neuraminidase Deficiency
Hepatomegaly, Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bon... OMIM:256550
Rhyns Syndrome
Osteopenia, Radial bowing, Decreased response to growth hormone stimulation test, Osteoporosis, P... OMIM:602152
Idiopathic Juvenile Osteoporosis
Osteoporosis, Recurrent fractures ORPHA:85193
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Micrognathia, Precocious puberty, Acromicria, Small hand, Obesity, Abnormal heart morphology, Sho... ORPHA:254525
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Telangiectasia OMIM:603284
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... OMIM:271700
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Mucopolysaccharidosis-Plus Syndrome
Metaphyseal widening, Flexion contracture, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic st... OMIM:617303
Cri-Du-Chat Syndrome
Microretrognathia, Syndactyly, Short metacarpal, Pes planus, Hypospadias, Inguinal hernia, Small ... OMIM:123450
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Micrognathia, Flexion contracture, Hyperglycemia, Calcinosis, Hepatomegaly, Short cla... OMIM:248370
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Overweight, Obesity, Mitral regurgitation, Pulmonary arterial hypertension OMIM:614651
Ohdo Syndrome
Joint laxity, Small scrotum, Proteinuria, Micrognathia, Sparse eyebrow, Cryptorchidism, Abnormal ... OMIM:249620
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... ORPHA:93314
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Clinodactyly, Decreased body weight, Micrognathia ORPHA:357175
Smith-Kingsmore Syndrome
Curly hair, Rhizomelia, Hypoglycemia, Diastasis recti, Large for gestational age, Short proximal ... OMIM:616638
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Pituitary adenoma, Obesity, Hypertension, Abdominal obesity, Glucose ... OMIM:219090
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... ORPHA:36234
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Microretrognathia, Pes planus, Hip contracture, Inguinal hernia, Micrognathia, Coxa valga, Advanc... OMIM:618363
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Single transverse palmar crease, Micrognathia, Hypospadias, Rhizomelia, Hemolytic-ure... OMIM:611209
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Pes planus, Hypospadias, Proximal placement of thumb, Micrognathia, Tapered... ORPHA:251071
Gaucher Disease Type 1
Osteopenia, Anorexia, Osteoarthritis, Pedal edema, Leukopenia, Biliary tract obstruction, Hepatom... ORPHA:77259
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Pineal cyst, Enuresis nocturna, Short 4th ... OMIM:615873
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Microgn... OMIM:251300
Mckusick-Kaufman Syndrome
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Tarsal synostosis, Renal hyp... ORPHA:2473
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Osteoporosis, Rickets OMIM:560000
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Clinodactyly, Decreased body weight, Micrognathia OMIM:615162
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Obesity OMIM:618124
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Autoimmune hemolytic anemia, Failure to thrive, Recurrent urina... OMIM:618495
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... ORPHA:293978
Cockayne Syndrome Type 1
Hepatomegaly, Renal insufficiency, Proteinuria, Foot joint contracture, Scarring, Ataxia, Cryptor... ORPHA:90321
Wiskott-Aldrich Syndrome 2
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec... OMIM:614493
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Hypergonadotropic hypogonadism, Recurrent myoglobinuria, Proteinuria, Elevated circ... OMIM:607426
Hyperinsulinism Due To Ucp2 Deficiency
Tachycardia, Large for gestational age, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycem... ORPHA:276556
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Single ... OMIM:227270
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ectopic posterior pituitary, Congenital hip dislocation, Single transverse palmar... ORPHA:508488
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Osteopenia, Proteinuria, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia, B... OMIM:611555
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Ataxia, Eczema, Stomatitis, Osteoporosis, Thyroiditis, Rickets, Depression, St... OMIM:212750
Kleefstra Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Renal cyst, Hernia, Vesicoureteral reflux, Chronic ot... ORPHA:261494
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Mckusick-Kaufman Syndrome
Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Polycystic kid... OMIM:236700
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Antinuclear an... OMIM:616414
Tetrasomy 9P
Myositis, Micrognathia, Biliary atresia, Inappropriate behavior, Clinodactyly of the 5th finger, ... ORPHA:3310
Down Syndrome
Joint laxity, Sandal gap, Bilateral single transverse palmar creases, Renal hypoplasia/aplasia, A... ORPHA:870
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Hypospadias, Proximal placement of thumb, Shor... ORPHA:2438
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Fg Syndrome Type 1
Single transverse palmar crease, Micrognathia, Generalized joint laxity, Compulsive behaviors, At... ORPHA:93932
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Micrognathia, Atrial septal defect, Abnormal repetitive manneris... OMIM:194190
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Distal Deletion 12Q
Single transverse palmar crease, Ectopic kidney, Micrognathia, Biliary atresia, Proportionate tal... ORPHA:96149
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Failure to thrive in infancy, Micrognathia, Tapere... ORPHA:193
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Waardenburg Syndrome, Type 1
White eyelashes, White eyebrow, Synophrys, Premature graying of hair, Aplasia of the vagina, Whit... OMIM:193500
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Micrognathia, Abnormal lung lobation, Renal cyst, Nephrocalcinosis, Atrial septal def... ORPHA:369837
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, Morgagni diaphragm... OMIM:613177
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Compulsive behaviors, Otitis media, Vesicoureteral reflux, Atrial septal d... ORPHA:353281
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:243150
Bruck Syndrome
Bowing of the long bones, Recurrent fractures, Joint stiffness, Osteoporosis, Talipes equinovarus... ORPHA:2771
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Subacute Inflammatory Demyelinating Polyneuropathy
Limitation of movement at ankles, Leukocytosis, Absent patellar reflexes, Abnormality of the calf... ORPHA:206594
Kleefstra Syndrome 1
Recurrent respiratory infections, Hypospadias, Single transverse palmar crease, Aggressive behavi... OMIM:610253
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly, Recurrent aspiration pneumonia OMIM:300484
Intellectual Disability-Strabismus Syndrome
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Micrognat... ORPHA:363528
Duplication Of The Pituitary Gland
Encephalocele, Abnormality of joint mobility, Abnormal pituitary gland morphology, Abnormal hypot... ORPHA:314621
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers... ORPHA:358
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Asplenia, Chronic otitis media, Abnormal sperm motility, Male infertility... ORPHA:244
Cushing Disease
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Pedal edema, Re... ORPHA:96253
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t... OMIM:226980
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... OMIM:615607
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Type II... ORPHA:225
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Claw hand deformity, Elevated circulating creatine kinase concentration, Stage 5 chr... OMIM:614455
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... ORPHA:2237
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Hemolytic... ORPHA:2968
Omodysplasia 1
Short humerus, Atrial septal defect, Rhizomelia, Increased fibular diameter, Ventricular septal d... OMIM:258315
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Catel-Manzke Syndrome
Joint laxity, Short humerus, Short metacarpal, Short femur, Micrognathia, Short neck, Cryptorchid... OMIM:616145
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Bardet-Biedl Syndrome 20
Proteinuria, Hypercholesterolemia, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial han... OMIM:619471
46,Xy Ovotesticular Difference Of Sex Development
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... ORPHA:325345
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Hyperactivity, Restlessness, Ataxia, Ventricular septal defect, Abnormality of the ha... ORPHA:369891
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Talipes, Postax... OMIM:619879
19P13.3 Microduplication Syndrome
Hyperactivity, Unilateral cryptorchidism, Ventricular septal defect, Micrognathia, Precocious pub... ORPHA:447980
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Genu recurvatum, Limited hip extension, Flexion contracture, Tibial bowing, Knee dislocation, Sho... OMIM:143095
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Renal insufficiency, Femoral hernia, Inguinal hernia, Failure to thrive, Cry... ORPHA:96147
Microphthalmia, Isolated 4
Absent testis, Postaxial polydactyly OMIM:613094
Pachydermoperiostosis
Osteomyelitis, Elevated circulating growth hormone concentration, Limitation of joint mobility, O... ORPHA:2796
Preeclampsia/Eclampsia 1
Proteinuria, Thrombocytopenia OMIM:189800
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Endocardial fibrosis, Absence of lymph... OMIM:235550
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Microgn... ORPHA:246
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612287
Holoprosencephaly
Hypoplasia of penis, Congenital diaphragmatic hernia, Abnormality of the spleen, Panhypopituitari... ORPHA:2162
Dystonia 30
Impulsivity, Aggressive behavior, Compulsive behaviors, Hypothalamic hamartoma, Loss of ambulation OMIM:619291
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Foot oligodactyly, Amelia OMIM:601357
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Cardiomegaly, Pneumothorax, Glandular hypospadias, Abnormal circulating ceruloplasmi... OMIM:620306
Lethal Congenital Contracture Syndrome 10
Omphalocele, Stiff neck, Overriding aorta, Ventricular septal defect, Micrognathia, Cardiomegaly,... OMIM:617022
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Hypoglycemia, J... ORPHA:137675
Pmm2-Cdg
Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent... ORPHA:79318
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Micrognathia, Flexion contracture, Talipes calcaneovarus, Low frustration tolerance, Micropenis, ... OMIM:300534
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
3-5 toe syndactyly, Clinodactyly of the 5th finger, Vesicoureteral reflux, Pelvic kidney, Spina b... OMIM:300707
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of th... OMIM:218600
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Abnormal r... ORPHA:213
Crimean-Congo Hemorrhagic Fever
Stiff neck, Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Increased c... ORPHA:99827
Meacham Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Cryptorchidism, Hydrometrocolpos, Abnormal ... ORPHA:3097
Stüve-Wiedemann Syndrome
Osteopenia, Flexion contracture of finger, Bowing of the long bones, Recurrent fractures, Camptod... ORPHA:3206
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... OMIM:619868
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... OMIM:604292
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... ORPHA:3103
Melas
Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Nephropathy, Hypothyroidism, Abnormal m... ORPHA:550
Epiphyseal Dysplasia, Baumann Type
Joint laxity, Pes planus, Epiphyseal dysplasia, Hypoplasia of the femoral head, Absent metacarpal... OMIM:610797
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Gillessen-Kaesbach-Nishimura Syndrome
Ulnar deviation of the hand, Micrognathia, Metaphyseal widening, Flexion contracture, Short long ... OMIM:263210
Cockayne Syndrome A
Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac wing, Micrope... OMIM:216400
Monosomy 13Q34
Pes planus, Metrorrhagia, Epistaxis, Micrognathia, Fetal pyelectasis, Postaxial hand polydactyly,... ORPHA:96168
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Primar... ORPHA:97279
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Dysostosis, Stanescu Type
Increased bone mineral density, Bowing of the long bones, Micromelia, Abnormal epiphysis morpholo... ORPHA:1798
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Joint laxity, Hyperextensibility of the finger joints, Hyperactivity, Atrial septal defect, Arach... OMIM:309520
Von Hippel-Lindau Disease
Back pain, Myocardial infarction, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Papillary... ORPHA:892
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cuta... OMIM:270400
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Forearm undergrowth, Renal dysplasia, Lower limb undergrowth OMIM:218650
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Micrognathia, Short neck, Cryptorchidism, Pancreatic lymphangiectasis, Abnormal renal morphology,... ORPHA:1655
Nail-Patella Syndrome
Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Hypoplasia of first ribs, Iliac ho... OMIM:161200
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Torticollis, Cryptorchidism, Pyelonephritis, Oligozoospermia, Nephritis... OMIM:314300
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Cog4-Cdg
Failure to thrive in infancy, Ataxia, Recurrent upper respiratory tract infections, Hepatosplenom... ORPHA:263501
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... OMIM:249700
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Large for gestational age,... ORPHA:45452
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Impulsivity, Aggressive behavior, Overweight, Cryptorchidism, Flexion contract... ORPHA:500055
Proteus Syndrome
Neoplasm of the thymus, Abnormal finger morphology, Abnormal lung lobation, Renal cyst, Clinodact... ORPHA:744
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... OMIM:614450
Summitt Syndrome
Tall stature, Camptodactyly of finger, Craniosynostosis, Obesity ORPHA:3210
Martin-Probst Syndrome
Bifid scrotum, Renal insufficiency, Pancytopenia, Proteinuria, Micrognathia, Cryptorchidism, Tela... OMIM:300519
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thick hair, Synophrys, Low posterior hairline, Truncal obesity, Thick eyebrow ORPHA:2429
Rafiq Syndrome
Joint laxity, Ataxia, Flexion contracture, Obesity, Truncal obesity, Joint hypermobility OMIM:614202
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna ORPHA:1122
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... OMIM:614470
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism, Elevated circ... OMIM:613724
Chromosome Xq26.3 Duplication Syndrome
Tall stature, Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis... OMIM:300942
Complement Component 4A Deficiency
Systemic lupus erythematosus, Glomerulonephritis, Reduced hemolytic complement activity, Decrease... OMIM:614380
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Bronchiectasis, De... OMIM:193670
Acro-Renal-Ocular Syndrome
Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger syndactyly, Broad hall... ORPHA:959
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Camurati-Engelmann Disease
Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Leuk... ORPHA:1328
Pediatric Systemic Lupus Erythematosus
Myositis, Leukopenia, Decreased circulating complement C4 concentration, Lupus anticoagulant, Nep... ORPHA:93552
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... ORPHA:276
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Postaxial polydactyly, Micrognathia, Lower limb asymmetry, Cryptorchid... ORPHA:404440
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Orofaciodigital Syndrome I
Microretrognathia, Syndactyly, Dry hair, Alopecia, Proteinuria, Pancreatic cysts, Ovarian cyst, S... OMIM:311200
Dent Disease
Enlarged epiphyses, Elevated circulating creatine kinase concentration, Bowing of the legs, Delay... ORPHA:1652
Pycnodysostosis
Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Osteolyt... OMIM:265800
Syndromic Diarrhea
Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thymus, Hepatic fibro... ORPHA:84064
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentrati... ORPHA:263455
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Analbuminemia
Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... OMIM:616000
Adnp Syndrome
Urinary incontinence, Single transverse palmar crease, Oral-pharyngeal dysphagia, Abnormal finger... ORPHA:404448
Mosaic Trisomy 9
Hypoplasia of penis, Micromelia, Micrognathia, Asplenia, Abnormal lung lobation, Finger clinodact... ORPHA:99776
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Decreased response to growth hormone stimulation... OMIM:609053
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Male infertility, Pancytopenia, Renal agenesis, Hypergonadotropic h... OMIM:227650
Lenz-Majewski Hyperostotic Dwarfism
External genital hypoplasia, Epispadias, Abnormal finger morphology, Symphalangism affecting the ... ORPHA:2658
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Joint laxity, Arachnodactyly, Ventricular septal defect, Aggressive behavior, Cryptorchidism, Dis... OMIM:301039
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent urinary tract infect... OMIM:620210
Webb-Dattani Syndrome
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:615926
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Multicystic kidney dysplasia, Micrognathia, Missing ribs, Cryptorc... ORPHA:3301
Thymic Neuroendocrine Tumor
Osteopenia, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, P... ORPHA:97289
Nail-Patella Syndrome
Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Talipes calcaneovalgus... ORPHA:2614
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Elevated circulating long chain fatty acid concentration, Renal tubular dys... OMIM:614886
Lujan-Fryns Syndrome
Arachnodactyly, Camptodactyly of finger, Micrognathia, Joint hyperflexibility, Disproportionate t... ORPHA:776
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... ORPHA:2378
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Micrognathia, Hepatic steatosis, Hepatomegaly, Membranoproliferative glomerulo... OMIM:619525
Atypical Hemolytic Uremic Syndrome
Proteinuria, Decreased circulating complement factor B concentration, Abnormality of complement s... ORPHA:2134
Hutchinson-Gilford Progeria Syndrome
Micrognathia, Osteoarthritis, Reduced bone mineral density, Limitation of movement at ankles, Abn... ORPHA:740
Mietens Syndrome
Hypoplasia of the ulna, Talipes, Coxa valga, Metatarsus adductus, Avascular necrosis of the capit... ORPHA:2557
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... OMIM:210720
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Nephrotic s... OMIM:618999
Microtriplication 11Q24.1
Metatarsus adductus, Hyperlipidemia, Limitation of joint mobility, Small hand, Obesity, Genu valg... ORPHA:289522
Nephronophthisis 15
Obesity OMIM:614845
Ehlers-Danlos Syndrome, Classic-Like
Ambiguous genitalia, female, Bicornuate uterus OMIM:606408
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... OMIM:612702
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Proteinuria, Camptodactyly of finger, Cachexia, Micrognathia, Wrist swelling, Limitation of joint... ORPHA:2774
Camurati-Engelmann Disease
Waddling gait, Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long ... OMIM:131300
Chromosome 10Q26 Deletion Syndrome
Small scrotum, Congenital hip dislocation, Single transverse palmar crease, Micrognathia, 2-3 toe... OMIM:609625
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Pes planus, Broad hallux, Short neck, Abnormal hair whorl, Synophrys, Increased body weight, Hors... OMIM:300860
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Premature ovarian insufficiency, Female infertility OMIM:619518
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Limb-Mammary Syndrome
Syndactyly, Alopecia, Absent nipple, Toe syndactyly, Psoriasiform dermatitis, Chronic irritative ... ORPHA:69085
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism, Limited elbow extension, Tapered finger OMIM:300706
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Ventricular septal defect, Splenomegaly, Postaxial hand... OMIM:615630
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Giant cell hepatitis, Hepatomegaly, Proteinuria, Ventricular septal defect, Nephrogenic diabetes ... OMIM:613404
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Femoral bowing... OMIM:600920
Sotos Syndrome
Joint laxity, Pes planus, Abnormality of the kidney, Neonatal hypoglycemia, Sparse eyebrow, Crypt... OMIM:117550
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Fixed Drug Eruption
Vaginal mucosal ulceration ORPHA:293812
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Melanonychia, Pancreatic adenocarcinoma, Enlarged polycystic ovaries... ORPHA:2869
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Osteopenia, Flexion contracture, Gastrointestinal inflammation, Iron deficien... ORPHA:79408
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Dextrocardia, Craniosynostosis, Micrognathia, Congenital diaphragma... ORPHA:261197
Teebi Hypertelorism Syndrome 1
Highly arched eyebrow, Widow's peak, Hydrocele testis, Bicornuate uterus, Shawl scrotum OMIM:145420
Alagille Syndrome 1
Multiple small medullary renal cysts, Papillary thyroid carcinoma, Atrial septal defect, Vesicour... OMIM:118450
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Micrognathia, Compulsive behaviors, Otitis media, Vesicoureteral reflux, A... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Micrognathia, Compulsive behaviors, Otitis media, Vesicoureteral reflux, A... ORPHA:353277
Rhizomelic Limb Shortening With Dysmorphic Features
Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Micrognathi... OMIM:618821
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right ventricular fai... ORPHA:97287
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Renal hypoplasia/aplasia, Hand oligodactyly, Fibular hypopl... ORPHA:1788
Cardiac-Urogenital Syndrome
Bifid scrotum, Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar an... OMIM:618280
Radio-Tartaglia Syndrome
Pes planus, Ataxia, Ventricular septal defect, Impulsivity, Tapered finger, Precocious puberty, M... OMIM:619312
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Congenital hypothyroidism, Synophrys, Horizontal eyebrow, Obesity ORPHA:352530
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Hypoglycem... OMIM:616113
Pallister-Hall-Like Syndrome
Occipital encephalocele, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hi... OMIM:241800
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets OMIM:211600
Maternal Uniparental Disomy Of Chromosome 2
Pes planus, Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response... ORPHA:96179
Hydrolethalus Syndrome 1
Accessory spleen, Omphalocele, Hypospadias, Ventricular septal defect, Abnormal cortical gyration... OMIM:236680
Wilson Disease
Hepatomegaly, Acute hepatitis, Abnormality of the hand, Abnormality of the menstrual cycle, Aggre... ORPHA:905
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Atrial septal defect, Micromelia, Precocious puberty, Coxa vara... ORPHA:2637
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... OMIM:129900
Femoral-Facial Syndrome
Short fourth metatarsal, Maternal diabetes, Limited elbow movement, Micrognathia, Hemivertebrae, ... OMIM:134780
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Hepatomegaly, Renal insufficiency, Proteinuria, Small for ge... OMIM:133540
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Insulin resistance, Intention tremor OMIM:619322
Angelman Syndrome
Hyperactivity, Broad-based gait, Precocious puberty in females, Ataxia, Aggressive behavior, Inab... ORPHA:72
Chromosome 2Q37 Deletion Syndrome
Short metacarpal, Short fourth metatarsal, Hyperactivity, Eczema, Aggressive behavior, Hypothyroi... OMIM:600430
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b... ORPHA:2878
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypospadias, Cryptorchidism, Decreased circulating antibody level, Agammaglobulinemia, Polydactyl... OMIM:616910
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis OMIM:608957
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Hyperactivity, Ataxia, Aggressive behavior, Precocious puberty, Preaxial polydactyl... ORPHA:163681
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Micrognathia, High iliac wing, Osteopetrosis, Large iliac wing, F... ORPHA:2780
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Renal Nutcracker Syndrome
Dyspareunia, Orthostatic hypotension, Tachycardia, Proteinuria, Dysmenorrhea, Vulval varicose vei... ORPHA:71273
Orofaciodigital Syndrome Vi
Micrognathia, Tibial bowing, Central Y-shaped metacarpal, Hypothalamic hamartoma, Occipital menin... OMIM:277170
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Atrial septal defect, Decreased circula... OMIM:620005
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Clinodactyl... ORPHA:1606
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Cutaneous finger syndactyly, Hypoalbuminemia, Short palm, Hypoplastic iliac wing,... OMIM:235510
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Micrognathia, Oral-pharyngeal dysphagia, Prominent protruding coccyx, Obesity, Lipoma, Chronic ot... ORPHA:480907
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Nail-biting, Hyperactivity, Atrial septal defect, Decreased response to growth hor... ORPHA:485405
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Xerostomia, Gastrointestinal inflammation, Conjunctivitis, Neutropenia, Abnormal penis morphology... ORPHA:95455
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, External genital hypoplasia, Micrognathia, Generalized joint laxity, Tibial bowing, C... ORPHA:251028
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Urinary incontinence, Large for gestational age, Central... ORPHA:169189
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Osteoporosis, Increased susceptibility to fractures OMIM:612286
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Pancreatic fibrosis, Ventricular septal defect, Pachygyria, Preaxial hand p... OMIM:263520
Chops Syndrome
Ventricular septal defect, Tracheomalacia, Cryptorchidism, Splenomegaly, Obesity, Horseshoe kidne... OMIM:616368
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Scapular winging, Small for gestational age, Bilateral cryptorchidism, Cryptorchid... OMIM:617796
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... ORPHA:40366
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... OMIM:616828
Arms, Malformation Of
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius OMIM:107900
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Pycnodysostosis
Joint laxity, Increased bone mineral density, Rhizomelia, Micrognathia, Lower limb asymmetry, Gen... ORPHA:763
Distal Triplication 15Q
Atrial septal defect, Abnormal external genitalia, Arachnodactyly, Craniosynostosis, Micrognathia... ORPHA:314588
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Spondyloenchondrodysplasia
Decreased response to growth hormone stimulation test, Bowing of the legs, Anti-dsDNA antibody po... ORPHA:1855
Rubinstein-Taybi Syndrome 1
Plantar crease between first and second toes, Single transverse palmar crease, Premature thelarch... OMIM:180849
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bones, Aplastic ... ORPHA:50945
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Arachnodactyly, Micromelia, Abnormality of the ureter, Obesity, Genu valgum, Joint hy... ORPHA:1035
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Reduced bone min... OMIM:617052
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Coarse hair, Stage 5 chronic kid... OMIM:619603
Multiple Myeloma
Osteopenia, Tall stature, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated ... ORPHA:29073
W Syndrome
Pes planus, Hypoplasia of the ulna, Radial bowing, Acne, Metatarsus adductus, Elbow dislocation, ... ORPHA:2804
Renal Agenesis
Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,... ORPHA:411709
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperprolinemia Type 1
Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria ORPHA:419
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Bowing of the long bones, Hypospadias, Camptodactyly of finger, T... ORPHA:90652
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hypospadias, Decreased respon... ORPHA:1896
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Waddling gait, Ataxia, Puberty and gonadal disorders, Unsteady gait, Obesity, Difficulty walking ORPHA:464282
White-Sutton Syndrome
Congenital diaphragmatic hernia, Micrognathia, Hypoglycemic seizures, Tics, Atrial septal defect,... OMIM:616364
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Elevated circulating C-rea... ORPHA:54251
2Q37 Microdeletion Syndrome
Congenital diaphragmatic hernia, Compulsive behaviors, Short palm, Clinodactyly of the 5th finger... ORPHA:1001
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Obesity OMIM:603233
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marrow foam cells, Leukopeni... OMIM:278000
Fragile X Syndrome
Macroorchidism, postpubertal, Pes planus, Joint laxity, Hyperactivity, Periventricular heterotopi... OMIM:300624
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, H... ORPHA:3157
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... ORPHA:79644
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Coxa vara, Limb und... OMIM:602557
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... OMIM:608971
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... OMIM:614700
Familial Renal Glucosuria
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula... ORPHA:69076
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Cra... OMIM:251230
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Tapered finger, Overweight, Dilated cardiomyopathy, Small hand, Renovascul... ORPHA:401923
Neuhauser Syndrome
Osteopenia, Pes planus, Arachnodactyly, Genu recurvatum, Ataxia, Micrognathia, Dysphagia, Genu va... OMIM:249310
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Overweight, Inability to walk, Obesity, Gait disturbance, Dysphagia, Hypothalamic atrophy... ORPHA:2822
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Boutonneuse Fever
Abnormal skin morphology of the palm, Renal insufficiency, Maculopapular exanthema, Skin rash, Ce... ORPHA:83313
Johanson-Blizzard Syndrome
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Alopecia, Abnormal hair pattern, Abnormality... ORPHA:2315
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Trisomy 20P
Micrognathia, Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Reduced b... ORPHA:261318
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Pseudohypoparathyroidism Type 1B
Increased bone mineral density, Decreased response to growth hormone stimulation test, Diaphyseal... ORPHA:94089
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Abnormal renal morpholo... OMIM:207410
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula OMIM:619318
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro... ORPHA:2839
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Ataxia, Tapered finger, Micrognathia, Abnormal repetitive mannerisms, Joint hyperflex... ORPHA:2479
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Small for gestational age, Cor pulmonale, Macronodular cirrhosis, Abnormal T cell mo... OMIM:215250
Wilson Disease
Decreased circulating ceruloplasmin concentration, Osteoarthritis, Pedal edema, Aminoaciduria, Hy... OMIM:277900
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Recurrent skin infections, Abnormality of the kidney, Decreased serum iron, Si... ORPHA:391372
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia, Bone cyst, ... ORPHA:2668
Gaucher Disease
Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Hepatomegaly, ... ORPHA:355
Duplication Of Urethra
Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... ORPHA:237
14Q11.2 Microduplication Syndrome
Hypothyroidism, Obesity, Highly arched eyebrow ORPHA:261229
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... OMIM:600802
Denys-Drash Syndrome
Proteinuria, Male pseudohermaphroditism, Nephrotic syndrome, Gonadal dysgenesis, Hypertension, Ne... ORPHA:220
Sodium-Dependent Multivitamin Transporter Deficiency
Clubbing of fingers, Decreased circulating IgG level, Polymicrogyria OMIM:618973
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Hyperhidrosis, Cutaneous finger syndacty... OMIM:101200
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets OMIM:611590
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Anuria, Acute tubulointerstitial nephritis, Tu... ORPHA:340
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Unilateral cryptorchidism, Large for gestational age, Overgrowth, Pulmonic stenosis, Tall stature ORPHA:137634
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Ataxia, Abnormal he... ORPHA:36412
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... OMIM:615285
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... OMIM:308240
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the panc... ORPHA:2470
Say-Barber-Miller Syndrome
Eczema, Craniosynostosis, Micrognathia, Erythema nodosum, Cryptorchidism, Talipes equinovalgus, H... ORPHA:3132
Tarp Syndrome
Finger syndactyly, Broad-based gait, Extramedullary hematopoiesis, Rocker bottom foot, Postaxial ... ORPHA:2886
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... OMIM:616329
Baralle-Macken Syndrome
Obesity, Hirsutism OMIM:619255
Trichothiodystrophy
Osteopenia, Congenital exfoliative erythroderma, Multiple joint contractures, Gait ataxia, Conjun... ORPHA:33364
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, Sparse eyebrow, Low ... ORPHA:1521
Immunodeficiency 9
Hypoplasia of the thymus, Recurrent aphthous stomatitis, Difficulty walking, Stomatitis, Failure ... OMIM:612782
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect, Cryptorchidism, Hypomagnesemia, Attention deficit hyperactivity disord... OMIM:619908
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Bifid femur, Increased susceptibility to fr... ORPHA:2769
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopathy, Obesi... ORPHA:563
Ddost-Cdg
Osteopenia, Hepatic steatosis, Lipodystrophy, Primary hypothyroidism, Failure to thrive, Nephroti... ORPHA:300536
8p23.1 deletion syndrome
Hyperactivity, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal heart morphology, Atrial... DECIPHER:39
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... OMIM:619632
Lymphoproliferative Syndrome 3
Decreased circulating antibody level, Partial absence of specific antibody response to tetanus va... OMIM:618261
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Cong... ORPHA:2322
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Hypercholesterolemia, Intrinsic hand muscle atrophy, Abnormal circ... ORPHA:488650
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Cockayne Syndrome
Urinary incontinence, Congenital contracture, Progressive gait ataxia, Hepatomegaly, Ataxia, Cryp... ORPHA:191
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... OMIM:601495
Juberg-Hayward Syndrome
Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, A... ORPHA:2319
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, In... OMIM:620010
Legionnaires Disease
Anorexia, Abnormal lung morphology, Infectious encephalitis, Hyponatremia, Ataxia, Recurrent phar... ORPHA:549
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Atrophic gastritis, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ... ORPHA:227990
Stankiewicz-Isidor Syndrome
Ureteral duplication, Hyperactivity, Hypospadias, Truncus arteriosus, Ventricular septal defect, ... OMIM:617516
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Ppoma
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Elevated circulating growth hormone concen... ORPHA:97278
Coffin-Siris Syndrome 1
Single transverse palmar crease, Congenital diaphragmatic hernia, Ectopic kidney, Prominent inter... OMIM:135900
Acromegaly
Dysmenorrhea, Osteoarthritis, Wide penis, Synophrys, Hyperhidrosis, Pituitary prolactin cell aden... ORPHA:963
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis, Lipodystrophy OMIM:305800
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Unilateral renal agenesis, Micrognathia, Absent thumb, Absent radius, Short n... OMIM:614083
Hyperzincemia With Functional Zinc Depletion
Osteoporosis OMIM:601979
Thrombocytopenia 6
Myelofibrosis, Osteoporosis OMIM:616937
Wiedemann-Steiner Syndrome
Joint laxity, Pes planus, Hyperactivity, Broad-based gait, Atrial septal defect, Micrognathia, Ta... OMIM:605130
Floating-Harbor Syndrome
Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Clin... OMIM:136140
Cohen Syndrome
Pes planus, Short metacarpal, Small for gestational age, Decreased response to growth hormone sti... OMIM:216550
Fanconi-Bickel Syndrome
Osteopenia, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Glycosuria, Postpr... ORPHA:2088
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Eosinophilia, Increased circulating IgG4 level, Autoimmunity, Abnormality of... ORPHA:449432
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Micrognathia, Cryptorchidism, Leukocytosis, Acut... ORPHA:99812
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age OMIM:618858
Fanconi Anemia, Complementation Group P
Pancytopenia, Micrognathia, Absent thumb, Cryptorchidism, Short thumb, Hypoplasia of the radius, ... OMIM:613951
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Tubulointerstitial nephritis, Leuk... ORPHA:227982
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... ORPHA:75234
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Bicuspid aortic valve, Single transverse palmar crease, Tics, Compulsive behaviors... OMIM:619475
Cornelia De Lange Syndrome
Hypoplasia of penis, Micromelia, Micrognathia, Proximal placement of thumb, Congenital diaphragma... ORPHA:199
Multiple Epiphyseal Dysplasia Type 1
Waddling gait, Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis... ORPHA:93308
Bloom Syndrome
Syndactyly, Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, C... OMIM:210900
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure, Kyphoscoliosis OMIM:300886
Cleidocranial Dysplasia 1
Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, Coxa vara, Hypoplas... OMIM:119600
Granulomatosis With Polyangiitis
Sinusitis, Granulomatosis, Otitis media, Chronic otitis media, Abnormality of the hypothalamus-pi... ORPHA:900
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Pes planus, Curly hair, Hypospadias, Diastasis recti, Large for gestational age, Cryptorchidism, ... ORPHA:457485
Diffuse Alveolar Hemorrhage
Antiphospholipid antibody positivity, Proteinuria, Rheumatoid factor positive, Autoimmunity, Anti... ORPHA:90060
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Proteinuria, Cryptorchidism, Heart murmur, Multiple bladder diverticula, Recurrent... ORPHA:2728
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major... ORPHA:2911
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... ORPHA:2502
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Palmoplantar keratoder... OMIM:610644
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Pes planus, Hepatomegaly, Hypoglycemia, Tapered finger, Precocious puberty, Abnormal repetitive m... OMIM:301066
Ulbright-Hodes Syndrome
Maternal diabetes, Micrognathia, Phocomelia, Abnormal penis morphology, Short metacarpal, Abnorma... ORPHA:3404
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Boucher-Neuhauser Syndrome
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism OMIM:215470
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Acne, Bilateral single transverse palmar creases, Micrognathia, Biliary tract ab... ORPHA:3191
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna... OMIM:142900
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Brachydactyly, Ataxia, Follicular thyroid carci... ORPHA:201
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Generalized lipodystrophy ORPHA:90154
Neu-Laxova Syndrome
Osteopenia, External genital hypoplasia, Micromelia, Micrognathia, Flexion contracture, Pachygyri... ORPHA:2671
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla... OMIM:201170
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Felty Syndrome
Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur... ORPHA:47612
Microphthalmia With Limb Anomalies
Failure to thrive, Toe syndactyly, Unilateral cryptorchidism, Sandal gap, Single transverse palma... OMIM:206920
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Alg9-Cdg
Micrognathia, Abnormal lung lobation, Right ventricular dilatation, Narrow greater sciatic notch,... ORPHA:79328
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Placental Insufficiency
Insulin resistance, Small for gestational age ORPHA:439167
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Genu recurvatum, Fatty replacement of skeletal muscl... ORPHA:206549
Malakoplakia
Abnormal bleeding, Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Abnorma... ORPHA:556
Fabry Disease
Anorexia, Abnormal femur morphology, Reduced bone mineral density, Nephropathy, Emphysema, Glomer... ORPHA:324
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Micrognathia, Cryptorchidism, Small hand, Short foot, Short palm, Micropenis OMIM:241410
Floating-Harbor Syndrome
Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Compulsive behaviors, Atrial septal defect,... ORPHA:2044
Somatomammotropinoma
Dysmenorrhea, Osteoarthritis, Synophrys, Hyperhidrosis, Pituitary prolactin cell adenoma, General... ORPHA:314769
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... OMIM:300853
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Long toe, Joint laxity, Hyperactivity, Hypospadias, Micrognathia, Long fingers, Tics, Inappropria... ORPHA:363686
Opitz Gbbb Syndrome
Bifid scrotum, Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, Vesicouretera... ORPHA:2745
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Inguinal hernia, Overlapping toe, Supernumerary nipple, Tapered finger, Cryptorchidism, Patent fo... OMIM:618653
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... ORPHA:63
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... ORPHA:2636
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Bachmann-Bupp Syndrome
Absent eyebrow, Sparse scalp hair, Hypoglycemia, Sparse eyelashes, Large for gestational age, Cry... OMIM:619075
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, Polyphagia ORPHA:411515
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Ectopic kidney, Abnormal lung lobation, Clinodactyly of the 5th finger, At... OMIM:607872
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Diabetes mellitus, Rickets OMIM:616026
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Acromelic Frontonasal Dysplasia
Encephalocele, Anterior pituitary hypoplasia, Midline central nervous system lipomas, Cryptorchid... ORPHA:1827
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Flexion contracture, Laterally curved eyebrow, Contracture of the p... OMIM:300166
Fg Syndrome 3
Hyperactivity, Broad hallux, Cryptorchidism, Joint contracture, Broad thumb OMIM:300406
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Truncal obesity, Abdominal obesity, Hypertension, Type II diabetes mellitu... OMIM:615812
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... ORPHA:198
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Camptodactyly, Short tibia, Recurrent aspiration pneumonia OMIM:258865
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Pediatric-Onset Graves Disease
Thyrotoxicosis with diffuse goiter, Anti-thyroid peroxidase antibody positivity, Increased circul... ORPHA:525731
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Antinuclear antibody positivity, Discoid ... ORPHA:536
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational... OMIM:227645
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Thickened cortex of long bones, Abnormality of the medullary cavi... OMIM:127000
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Pes planus, Proteinuria, Overlapping toe, Ventricular septal defect, Hiatus hernia, Precocious pu... OMIM:616682
Grfoma
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Elevated circulating growth hormone concen... ORPHA:97261
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Decreased response to growth hormone stimulation t... OMIM:307200
Ellis Van Creveld Syndrome
Micromelia, Epispadias, Atrial septal defect, Atrioventricular canal defect, Emphysema, Synostosi... ORPHA:289
Spastic Paraplegia 11, Autosomal Recessive
Ataxia, Urinary incontinence, Thenar muscle atrophy, Obesity, Urinary urgency, Ankle clonus, Tip-... OMIM:604360
Myh9-Related Disease
Prolonged bleeding time, Renal insufficiency, Spontaneous, recurrent epistaxis, Proteinuria, Incr... ORPHA:182050
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz... OMIM:243700
Pauci-Immune Glomerulonephritis
Renal interstitial immunoglobulin deposits, Tubulointerstitial nephritis, Granulomatosis, Nephrot... ORPHA:93126
Chronic Mucocutaneous Candidiasis
Dyspareunia, Abnormal vagina morphology ORPHA:1334
Ciliary Dyskinesia, Primary, 14
Male infertility, Recurrent respiratory infections, Absent inner dynein arms, Chronic bronchitis,... OMIM:613807
Clark-Baraitser Syndrome
Hyperactivity, Sandal gap, Aggressive behavior, Obesity, Clinodactyly OMIM:617752
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Ataxia, Steppage gait, Hypoalbuminemia, Hypercholesterolemia, Distal lower limb muscle weakness, ... ORPHA:94124
Odontochondrodysplasia 1
Genu recurvatum, Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Gen... OMIM:184260
Bardet-Biedl Syndrome 21
Overweight, Obesity OMIM:617406
Noonan Syndrome 8
Curly hair, Left ventricular hypertrophy, Eczema, Large for gestational age, Short neck, Cryptorc... OMIM:615355
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... OMIM:606721
Somatostatinoma
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Diabetes mellitus, Elevated circulating gr... ORPHA:97283
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Tubulointerstitial nephritis, Glomerulopathy, Abnormal pericardium morpholog... ORPHA:183
Chromosome 16P13.3 Deletion Syndrome, Proximal
Broad hallux, Abnormality of the kidney, Micrognathia, Obesity, Hypoplastic left heart, Polysplen... OMIM:610543
Igg4-Related Aortitis
Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Elevated circula... ORPHA:449400
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
Noonan Syndrome 4
Abnormal bleeding, Ureteral duplication, Curly hair, Large for gestational age, Sparse eyebrow, C... OMIM:610733
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Osteopenia, T2 hypointense thalamus, Bone cyst, Gait disturbance, Disinhibition, Pathologic fracture OMIM:618193
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hypoglycemia, Hepatocellular carcinoma, Splenomeg... OMIM:232220
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal ... OMIM:619534
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age OMIM:606176
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363958
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplasti... OMIM:617895
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Neonatal hypogl... ORPHA:116
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Congestive heart failure, Pituitary adenoma, P... OMIM:160980
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Hypospadias, Micrognathia, Jaundice, ... OMIM:301045
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... ORPHA:97282
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Single transverse palmar crease, Micrognathia, Distally placed thumb, Encephalocel... OMIM:619148
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Hematuria, Arthritis, Anemia ORPHA:375
Nelson Syndrome
Increased urinary cortisol level, Lower limb muscle weakness, Testicular neoplasm, Pituitary cort... ORPHA:199244
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Maternal diabetes, Ectopic kidney, Mis... ORPHA:3027
Lambert Syndrome
Inguinal hernia, Hypospadias, Failure to thrive in infancy, Ventricular septal defect, Jaundice, ... ORPHA:1296
Fragile X Syndrome
Joint laxity, Pes planus, Sinusitis, Otitis media, Macroorchidism, Chronic otitis media ORPHA:908
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Diabetes mellitus, Sandal gap, Lipodystrophy, Ventricular se... OMIM:270450
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei... ORPHA:449563
Partington Syndrome
Macroorchidism, Facial telangiectasia ORPHA:94083
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... OMIM:615238
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Recurrent aspiration pneumonia, Psoriasiform dermatitis, Ataxia, Clinodactyly of the ... ORPHA:221139
Microcephalic Primordial Dwarfism, Dauber Type
Bilateral breast hypoplasia, Obesity, Primary amenorrhea ORPHA:319675
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Mogs-Cdg
Atrial septal defect, Hepatomegaly, Left ventricular hypertrophy, External genital hypoplasia, Ca... ORPHA:79330
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Abnorma... OMIM:613101
Pontocerebellar Hypoplasia Type 7
Skeletal muscle atrophy, Micrognathia, Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgene... ORPHA:284339
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria OMIM:618857
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Pes planus, Hyperactivity, Sandal gap, Tapered finger, Small hand, Obesity, Short foot, Clinodact... OMIM:618089
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis OMIM:259730
Ataxia-Oculomotor Apraxia Type 4
Obesity, Telangiectasia ORPHA:459033
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chr... OMIM:613845
Aymé-Gripp Syndrome
Inguinal hernia, Pericarditis, Proteinuria, Rocker bottom foot, Craniosynostosis, Tapered finger,... ORPHA:1272
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Joint laxity, Spastic ataxia, Micrognathia, Metatarsus adductus, Abnormal repetitive mannerisms, ... ORPHA:300570
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Tall stature, Broad-based gait, Long palm, Recurrent fra... OMIM:309583
Laron Syndrome
Limb undergrowth, Decreased serum insulin-like growth factor 1, Delayed menarche, Short long bone OMIM:262500
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulat... ORPHA:226313
Gaucher Disease Type 3
Hepatomegaly, Increased bone mineral density, Ataxia, Pericardial effusion, Increased susceptibil... ORPHA:77261
Orofaciodigital Syndrome Type 6
Syndactyly, Mesoaxial polydactyly, Ataxia, Renal agenesis, Micrognathia, Bilateral cryptorchidism... ORPHA:2754
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Nodular regenerative hyperplasia of liver, ... ORPHA:247691
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Ataxia, Steppage gait, Hypoalbuminemia, Hypercholesterolemia, Pes cavus OMIM:607250
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Cutaneous syndactyly, Ureteral agene... OMIM:617666
Donnai-Barrow Syndrome
Proteinuria, Congenital diaphragmatic hernia, Non-acidotic proximal tubulopathy, Wide anterior fo... OMIM:222448
Trichorhinophalangeal Syndrome, Type Ii
Osteopenia, Chronic gastritis, Myocardial infarction, Micrognathia, Bilateral cryptorchidism, Hyp... OMIM:150230
Agammaglobulinemia, X-Linked
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... OMIM:300755
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria ORPHA:2613
Papa Syndrome
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Limitation of joint mobili... ORPHA:69126
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Renal insufficiency, Hypertriglyceridemia, Proteinuria, Decreased HDL cholester... OMIM:245900
Acquired Aneurysmal Subarachnoid Hemorrhage
Leukocytosis, Addictive alcohol use, Hyperglycemia, Left ventricular hypertrophy, Hypercholestero... ORPHA:90065
Autoimmune Hypoparathyroidism
Increased bone mineral density ORPHA:36913
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Cone-shaped epiphyses of the 4th toe, Hyperactivity, Obesity, Atopic dermatitis, C... ORPHA:397973
Williams-Beuren Syndrome
Osteopenia, Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Early onset of sexual m... OMIM:194050
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus OMIM:520000
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Flexion contracture, Leukopenia, Hypoalbuminemia, Conjunctivitis, Hernia, Atrial septal defect, D... ORPHA:505248
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyseal scler... OMIM:618476
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hem... ORPHA:90041
Giant Axonal Neuropathy
Facial palsy, Abnormal hand morphology, Abnormal pituitary gland morphology, Genu valgum, Talipes... ORPHA:643
Gm1-Gangliosidosis, Type Ii
Coxa valga, Joint stiffness, Hypoplastic vertebral bodies, Limb undergrowth, Thin bony cortex OMIM:230600
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic h... ORPHA:373
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Gastrointestinal hemorrhage, Hyperparathyroidism, Pituitary nul... ORPHA:913
Currarino Syndrome
Absence of the sacrum, Recurrent urinary tract infections, Neurogenic bladder, Hemisacrum, Urinar... OMIM:176450
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Synophrys, Aspiration pneumo... ORPHA:444077
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Reticular Dysgenesis
Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia ... ORPHA:33355
Ciliary Dyskinesia, Primary, 41
Bronchiectasis, Infertility, Recurrent sinusitis, Immotile sperm, Recurrent otitis media OMIM:618449
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Unsteady gait, Obesity, Dysmetria, Gait disturbance ORPHA:93952
Adiposis Dolorosa
Hypothyroidism, Xerostomia, Obesity, Arthritis ORPHA:36397
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Synophrys, Joint hypermobility OMIM:300143
Galloway-Mowat Syndrome 5
Ataxia, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Pachygyr... OMIM:617731
Johanson-Blizzard Syndrome
Clinodactyly of the 5th finger, Micropenis, Hypothyroidism, Joint laxity, Hypospadias, Urethrovag... OMIM:243800
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Micrognathia, Cryptorchidism, Hy... ORPHA:1865
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Diabetes mellitus, Aplasia/Hypopl... ORPHA:93111
17Q11.2 Microduplication Syndrome
Macroorchidism, Sparse eyelashes, Sparse eyebrow ORPHA:139474
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Type II diabetes mellitus, Obesity, Myocardial infarction OMIM:618620
Blue Diaper Syndrome
Decreased circulating T4 concentration, Recurrent hypoglycemia, Increased body weight, Increased ... ORPHA:94086
Osteootohepatoenteric Syndrome
Proteinuria, Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Microvesic... OMIM:619377
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... ORPHA:54057
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Dyskeratosis Congenita
Neoplasm of the pancreas, Recurrent respiratory infections, Hepatomegaly, Diabetes mellitus, Recu... ORPHA:1775
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity, Alopecia, Hypospadias, Supernumerary nipple ORPHA:3224
Distal Duplication 17Q
Accessory spleen, Hallux valgus, Joint laxity, Hyperactivity, Arachnodactyly, Rhizomelia, Overlap... ORPHA:3379
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Postaxial polydactyly, Aggressive behavior, Cryptorchidism, Proximal renal tubular... OMIM:615824
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Hypospadias, Endometriosis, High anterior hairline, Micropenis ORPHA:363444
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouricemia, Osteomalacia, Renal tubular dysfunct... OMIM:227810
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Leukocytosis, Flexion contracture, Renal hypoplasia, Genu valgum, Abdominal obesity, Hypoplasia o... OMIM:619321
Osteogenesis Imperfecta
Osteopenia, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contracture, Osteoarthri... ORPHA:666
Meckel Syndrome, Type 1
Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Micrognathia, Asplenia,... OMIM:249000
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... OMIM:616818
Fanconi Anemia, Complementation Group D2
Ectopic kidney, Reticulocytopenia, Aplasia of the 1st metacarpal, Neutropenia, Micropenis, Pelvic... OMIM:227646
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Anorexia, Abnormality of the spleen, Abnormality of... ORPHA:2552
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:613944
African Trypanosomiasis
Urinary incontinence, Conjunctivitis, Iritis, Abnormal EKG, Alopecia, Abnormality of the endocrin... ORPHA:3385
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia, Flexion contracture OMIM:618856
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Hypospadias, Joint hypermobility, Cryptorchidism, Oste... OMIM:619718
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level ORPHA:90159
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Bronchitis, Elevated circulating C-reactive protein concen... OMIM:619381
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Respira... ORPHA:444463
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Failure to thrive, Proteinuria... ORPHA:1018
Intellectual Developmental Disorder, Autosomal Dominant 29
Hyperactivity, Sandal gap, Broad hallux, Aggressive behavior, Cryptorchidism, Obesity, Self-injur... OMIM:616078
Essential Fructosuria
Hyperglycemia ORPHA:2056
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Hypoglycemia, Cardiac arrest, Premature thelarche, Acute rhabdomyolysis, Rhabdomyolysi... OMIM:616878
Mandibuloacral Dysplasia With Type A Lipodystrophy
Aplasia/Hypoplasia of the clavicles, Hyperlipidemia, Flexion contracture, Limitation of joint mob... ORPHA:90153
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Ataxia, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Clinodactyly, Decreased p... OMIM:603585
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Bilateral cryptorchidism, Intrahepatic cholestasis, Mild proteinuria, Irritability, Increased ser... OMIM:619685
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Genu valgum, Hypophosphatemia, Aminoaciduria, Pulmon... OMIM:618913
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Broad long bones, Abnormal metatarsal morphology, Cryptorchidism, Rhizo-meso-acromelic limb short... ORPHA:163654
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Alveolar Echinococcosis
Liver abscess, Cholangitis, Renal cyst, Pedal edema, Ataxia, Abnormal pericardium morphology, Por... ORPHA:284
Distal 16P11.2 Microdeletion Syndrome
Arachnodactyly, Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, O... ORPHA:261222
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Failure to thrive, Increased circulating IgE level, Decreased p... OMIM:615767
Vacterl With Hydrocephalus
Absence of the sacrum, Inguinal hernia, Femoral hernia, Renal agenesis, Spina bifida, Micrognathi... ORPHA:3412
Roifman Syndrome
Hip contracture, Short metacarpal, Noncompaction cardiomyopathy, Ventricular septal defect, Eosin... OMIM:616651
Orofaciodigital Syndrome Type 4
Micromelia, Micrognathia, Aplasia/Hypoplasia of the tibia, Genu varum, Finger syndactyly, Split h... ORPHA:2753
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
6Q16 Microdeletion Syndrome
Obesity, Thick eyebrow ORPHA:171829
Townes-Brocks Syndrome 1
Bifid scrotum, Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, Atrial septal defect... OMIM:107480
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Craniosynostosis, Obesity, Joint hypermobility OMIM:619056
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Quadriceps muscle atrophy, Precocious puberty, Inability to ... ORPHA:845
Pseudotrisomy 13 Syndrome
Cryptorchidism, Micropenis, Bicornuate uterus, Adrenal hypoplasia OMIM:264480
Meacham Syndrome
Aplasia of the right hemidiaphragm, Septate vagina, Male pseudohermaphroditism, Blind vagina, Bic... OMIM:608978
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... OMIM:308230
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Sponastrime Dysplasia
Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Generalized joint lax... ORPHA:93357
Immunodeficiency 46
Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Recessive Dystrophic Epidermolysis Bullosa Inversa
Vaginal stricture, Atrophic scars, Enamel hypoplasia, Nail dystrophy ORPHA:79409
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Overweight, Obesity, Hypertension, Cholelithiasis, Pancreatitis ORPHA:69663
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N... OMIM:105200
Desmosterolosis
Increased bone mineral density, Talipes, Micromelia, Micrognathia, Metatarsus adductus, Osteopetr... ORPHA:35107
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Proteinuria, E... OMIM:614034
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Vacterl/Vater Association
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Congenital diaphragmatic hernia, Ect... ORPHA:887
Bile Acid Synthesis Defect, Congenital, 1
Rickets OMIM:607765
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Bowed humerus, Recurrent fractures, Osteoporosis, Hip dislocation, Reduced bone min... OMIM:616507
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... ORPHA:699
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, L... ORPHA:98855
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational... OMIM:600901
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Ataxia, Micrognathia, Inability to walk, Unsteady gait, Small hand, Obesity, Perisy... OMIM:618443
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Congenital di... OMIM:613406
Noonan Syndrome 5
Curly hair, Large for gestational age, Sparse eyebrow, Cryptorchidism, Short neck, Fine hair, Arr... OMIM:611553
Spondyloocular Syndrome
Long toe, Pes planus, Osteopenia, Arachnodactyly, Unilateral cryptorchidism, Femur fracture, Over... OMIM:605822
Familial Mediterranean Fever
Pericarditis, Proteinuria, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Pedal ... ORPHA:342
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Triphalangeal thum... ORPHA:857
Sanjad-Sakati Syndrome
Hypoplasia of penis, Patchy osteosclerosis, Micrognathia, Cryptorchidism, Small hand, Short foot ORPHA:2323
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,... ORPHA:83471
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Single transverse palmar crease, ... OMIM:229850
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Premature ovarian insufficiency, Aggressive behavior, 2-3 toe syndactyly, Irritabi... ORPHA:391307
Culler-Jones Syndrome
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Postaxial polydactyl... OMIM:615849
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... ORPHA:183675
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect... OMIM:113000
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Desmosterolosis
Rhizomelia, Micrognathia, Generalized osteosclerosis, Ambiguous genitalia, female, Ambiguous geni... OMIM:602398
Niemann-Pick Disease, Type A
Recurrent respiratory infections, Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Spleno... OMIM:257200
Mosaic Trisomy 16
Syndactyly, Hypospadias, Small for gestational age, Maternal diabetes, Ventricular septal defect,... ORPHA:1708
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Subcorneal Pustular Dermatosis
Hyperthyroidism, Hypothyroidism, Rheumatoid arthritis, Increased circulating antibody level ORPHA:48377
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Brittle hair, Micrognathia, Insulin-resistant diabetes mellitus, Flexion contracture, H... OMIM:608612
Myhre Syndrome
Hypoplastic iliac wing, Atrial septal defect, Vertebral fusion, Ataxia, Pericardial effusion, Cry... OMIM:139210
X-Linked Intellectual Disability, Stevenson Type
Tall stature, Obesity, Thick eyebrow ORPHA:85325
Momo Syndrome
Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Abnormal bone o... ORPHA:2563
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb OMIM:179250
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Cerebral hemorrhage, ... ORPHA:276621
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Micrognathia, Talipes calcaneovalgus, Vesicoureteral reflux, Micropenis, Paroxysma... OMIM:309580
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Increased density of long bones, Hypospadias, Wide distal femoral metaphysis, Hypo... OMIM:269150
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Emery-Dreifuss Muscular Dystrophy
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, L... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, L... ORPHA:98853
Koolen-De Vries Syndrome
Bicuspid aortic valve, Positional foot deformity, Prominent fingertip pads, Atrial septal defect,... OMIM:610443
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eosinophilia, Craniosynostosis, Eczema, Keratitis, Increased ci... OMIM:618523
Oculodentodigital Dysplasia
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Micrognathia, Aplasia/H... ORPHA:2710
Hereditary Pheochromocytoma-Paraganglioma
Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, P... ORPHA:29072
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma... ORPHA:322
Manitoba Oculotrichoanal Syndrome
Omphalocele, Vaginal atresia, Abnormality of the hairline OMIM:248450
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Lipoatrophy, Left atrial enlargement, Limited elbow movement, Decreased serum ... OMIM:614008
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Recurrent sinopulmonary infections, Skin rash, Recurrent fractures, Craniosynostosis,... OMIM:147060
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Pes planus, Short femur, Talipes, Joint hypermobility, Micrognathia, Hypercalciuria, Nephrocalcin... OMIM:300990
Primrose Syndrome
Bilateral cryptorchidism, Flexion contracture, Knee flexion contracture, Reduced bone mineral den... OMIM:259050
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Kyphoscoliosis, Abnormal thumb morphology, Congestive he... ORPHA:324410
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Failure to thrive, Severe B lymphocytopenia, Arachnodactyly, Overlapping toe, Superficial dermal ... ORPHA:83617
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of fir... OMIM:154400
Vici Syndrome
Elevated circulating creatine kinase concentration, Micrognathia, Leukopenia, T lymphocytopenia, ... OMIM:242840
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... ORPHA:83469
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... OMIM:615573
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Chromosome 3Q29 Duplication Syndrome
Obesity, Low posterior hairline OMIM:611936
Angiostrongyliasis
Stiff neck, Increased circulating IgA level, Hypereosinophilia, Increased circulating specific Ig... ORPHA:74
Carpenter Syndrome 2
Single transverse palmar crease, Bilateral cryptorchidism, Preaxial polydactyly, Coxa vara, Knee ... OMIM:614976
Ehlers-Danlos Syndrome, Vascular Type
Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Periodontitis,... OMIM:130050
Den Hoed-De Boer-Voisin Syndrome
Recurrent urinary tract infections, Sandal gap, Ataxia, Ventricular septal defect, Overweight, In... OMIM:619229
X-Linked Emery-Dreifuss Muscular Dystrophy
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, L... ORPHA:98863
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... ORPHA:1352
17Q24.2 Microdeletion Syndrome
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Micrognathia... ORPHA:529962
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Premature graying of hair, Whit... ORPHA:3440
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Hypoalbumin... OMIM:208920
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Limitation of movement at ankles, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavi... ORPHA:98794
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Focal Segmental Glomerulosclerosis 5
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi... OMIM:613237
Shox-Related Short Stature
Micrognathia, Madelung deformity, Obesity, Genu valgum, Short foot, Tibial bowing, Forearm underg... ORPHA:314795
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... OMIM:301000
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Ataxia, Obesity, Joint hypermobility OMIM:620191
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... ORPHA:293987
Perlman Syndrome
Nephrogenic rest, Hypoglycemia, Renal hamartoma, Congenital diaphragmatic hernia, Large for gesta... OMIM:267000
Kleefstra Syndrome Due To A Point Mutation
Inguinal hernia, Abnormality of the kidney, Tracheomalacia, Tapered finger, Precocious puberty, L... ORPHA:261652
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension OMIM:607832
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Anemia of inadequate production, Megaloblastic a... OMIM:617780
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Absent gallbladder, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overrid... ORPHA:3186
Glucagonoma
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Diabetes mellitus, Elevated circulating gr... ORPHA:97280
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity, Synophrys OMIM:613192
Aspartylglucosaminuria
Pes planus, Recurrent respiratory infections, Aspartylglucosaminuria, Inguinal hernia, Abnormal m... ORPHA:93
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... OMIM:602418
Narcolepsy 7
Type II diabetes mellitus, Obesity OMIM:614250
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Small scrotum, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Emphysema... OMIM:613658
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, Glucose intolerance, ... OMIM:619127
Pallister-Killian Syndrome
Small scrotum, Congenital hip dislocation, Edema of the dorsum of feet, Congenital diaphragmatic ... OMIM:601803
Faciocardiomelic Syndrome
Osteopenia, Micrognathia, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony cortex OMIM:612731
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypospadias, Sparse eyelashes, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail dyst... OMIM:106260
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Coiled sperm flagella, Short sperm flagella, Male infertility OMIM:620197
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... ORPHA:508542
Sarcoidosis
Increased T cell count, Abnormal lung morphology, Uveitis, Nephrocalcinosis, Tubulointerstitial n... ORPHA:797
Aggressive Systemic Mastocytosis
Pancytopenia, Maculopapular exanthema, Anorexia, Portal hypertension, Hypersplenism, Thrombocytop... ORPHA:98850
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Idiopathic Intracranial Hypertension
Lethargy, Obesity ORPHA:238624
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Failure to thrive, Ventri... ORPHA:79329
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hip contracture, Hyperphosphaturia, Bowing of the long bones, Osteopenia, Hyp... OMIM:156400
Omenn Syndrome
Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Autoimmunity, Splenomegaly, Leukocytosi... ORPHA:39041
3P25.3 Microdeletion Syndrome
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Micrognathia, Postaxi... ORPHA:435638
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, L... OMIM:213980
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Increased circulating IgA level, Bilateral cryptorchidism, Neutropenia, Failure to t... OMIM:616395
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells, Dysmet... ORPHA:217260
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Hypertension... OMIM:193300
Immunoglobulin A Vasculitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Episcleritis, Proteinuria, Skin... ORPHA:761
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Sandal gap, Ataxia, Tapered finger, Aggressive behavior, Obesity, Compulsive behav... OMIM:618430
Schwartz-Jampel Syndrome
Micromelia, Micrognathia, Coxa vara, Wrist flexion contracture, Abnormally ossified vertebrae, In... ORPHA:800
Aapoaiv Amyloidosis
Back pain, Atrial flutter, Diabetes mellitus, Proteinuria, Abnormal cardiac ventricular function,... ORPHA:439232
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Autoimmunity, Follicular hyperplasia, Splenomegaly, Recur... OMIM:240500
Ivic Syndrome
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Leukocytosis, Hypoplasia of the ra... ORPHA:2307
Cartilage-Hair Hypoplasia
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Short palm, Abnormal bone ... ORPHA:175
Leopard Syndrome 1
Bundle branch block, Scapular winging, Hypospadias, Unilateral renal agenesis, Limited elbow move... OMIM:151100
Dubowitz Syndrome
Syndactyly, Pes planus, Inguinal hernia, Aplastic anemia, Hypospadias, Hyperactivity, Micrognathi... OMIM:223370
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Micrognathia, Cranial hyperostosis, Flared metaphysis, Decreased ... OMIM:259720
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Osteolysis, Anemia, Lymphadenopathy ORPHA:158014
Greenberg Dysplasia
Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ... OMIM:215140
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatos... ORPHA:275761
Retinitis Pigmentosa 51
Obesity OMIM:613464
Xfe Progeroid Syndrome
Renal insufficiency, Premature ovarian insufficiency, Proteinuria, Cachexia, Absence of subcutane... OMIM:610965
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Anterior pituitary hypoplasia, Structural foot deformity, Renal cyst... ORPHA:464306
Cryoglobulinemic Vasculitis
Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, Hepatomegaly, Circulating immu... ORPHA:91138
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Urinary incontinence, Clinodactyly of the 5th finger, Pelvic kidney, Hypospad... OMIM:619522
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Mucolipidosis Ii Alpha/Beta
Osteopenia, Increased serum beta-hexosaminidase, Micrognathia, Cardiomegaly, Metaphyseal widening... OMIM:252500
12Q14 Microdeletion Syndrome
Clinodactyly of the 5th finger, Osteopoikilosis, Micrognathia ORPHA:94063
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Pedal edema, Nephrotic syn... ORPHA:84090
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal widening, T lymphocytopenia, Neutropenia, Juvenile rheumatoid arthritis, Hypothyroidi... OMIM:607944
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... OMIM:618820
Mend Syndrome
Failure to thrive, Hyperactivity, Broad hallux, Overlapping toe, Micrognathia, Aggressive behavio... ORPHA:401973
Iga Nephropathy, Susceptibility To, 1
Purpura, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA dep... OMIM:161950
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Hydrometrocolpos, Horseshoe kidn... OMIM:617088
Leigh Syndrome
Multiple joint contractures, Choreoathetosis, Complex organic aciduria, Neutropenia, Ataxia, Rena... ORPHA:506
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... OMIM:114290
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Multiple joint contractures, Camptodactyly of finger, Abnormal pleura morphology, Micrognathia, R... ORPHA:2570
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Joint laxity, Pes planus, Hyperactivity, Hyperthyroidism, Diabetes mellitus, Autoimmunity, Shynes... ORPHA:449291
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Small for gestational age, Overweight, Dilated cardiomyopathy... ORPHA:26793
Pagod Syndrome
Omphalocele, Encephalocele, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Spina ... ORPHA:991
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Diffuse alve... ORPHA:90068
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Small hand, Short foot, Micropenis, Thickened cortex of long bones, Broad femoral nec... ORPHA:488434
Pierson Syndrome
Diffuse mesangial sclerosis, Skeletal muscle atrophy, Proteinuria, Stage 5 chronic kidney disease... OMIM:609049
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Atrial septal defect, Ureteral hypoplasia, Congenital diap... OMIM:614080
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... OMIM:613986
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Rheumatoid factor pos... ORPHA:90280
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbil... ORPHA:79303
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Anorexia, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocytosis... ORPHA:520
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Osteolysis, Abnorma... ORPHA:35687
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Abnormal renal morphology, Polydactyly, Abnormality of the ... ORPHA:59315
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... ORPHA:140
Achondroplasia
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Abnorm... ORPHA:15
Tick-Borne Encephalitis
Stiff neck, Elevated circulating C-reactive protein concentration, Anorexia, Leukocytosis, Depres... ORPHA:297
Frank-Ter Haar Syndrome
Osteopenia, Short palm, Bowing of the long bones, Micrognathia, Metatarsus adductus, Osteoporosis... OMIM:249420
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, Abnormal bone oss... ORPHA:93315
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Decreased circulating total IgM, Abnormal epiphysis morphology,... ORPHA:2643
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Spleno... OMIM:616100
X-Linked Cerebral Adrenoleukodystrophy
Decreased circulating cortisol level, Hyperactivity, Ataxia, Abnormal circulating fatty-acid conc... ORPHA:139396
Fryns Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Bicornuate uterus, Hypospadias ORPHA:2059
Japanese Encephalitis
Hyponatremia, Neutrophilia, Genu recurvatum, Stiff neck, Anorexia, Elbow flexion contracture, Cho... ORPHA:79139
Q Fever
Rheumatoid factor positive, Anorexia, Abnormality of the liver, Cholecystitis, Lupus anticoagulan... ORPHA:781
Classic Hodgkin Lymphoma
Hepatomegaly, Ataxia, Skin rash, Anorexia, Splenomegaly, Osteolysis, Weight loss, Lymphadenopathy... ORPHA:391
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Osteomalacia, Hypocitraturia, Rickets, Ne... ORPHA:18
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria, Hypoalbuminemia OMIM:614652
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Obesity, Heart murmur OMIM:615418
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Ciliary Dyskinesia, Primary, 46
Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Reduced sperm m... OMIM:619436
Desbuquois Dysplasia 2
Single transverse palmar crease, Metaphyseal widening, Knee dislocation, Short phalanx of finger,... OMIM:615777
Pseudoachondroplasia
Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Os... OMIM:177170
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Hypercalcemia, Nephrocalcinosis, Short 5th finger, Hypocalcemia, Hypoplasi... ORPHA:557003
Combined Immunodeficiency-Enteropathy Spectrum
Omphalocele, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular septal defect, Aut... ORPHA:436252
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Absent thumb, Hypoplasia of the radius, Re... OMIM:617784
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Large for gestational age, Palmoplantar hyperkeratosis, Gait ataxia, Clinodactyly of the 5th fing... OMIM:280000
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
X-Linked Adrenoleukodystrophy
Neurogenic bladder, Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Impoten... ORPHA:43
Schinzel-Giedion Syndrome
Micrognathia, Renal cyst, Tibial bowing, Hepatoblastoma, Myeloid leukemia, Micropenis, Streak ova... ORPHA:798
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... ORPHA:457395
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Hypoglycemia, Hepatocellular carcinoma, Pancreatitis, Hyperlipidemia, ... OMIM:232200
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent inner dynein arms, Chronic bronchitis, Situs inversus totalis, Absent ou... OMIM:614874
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Renal agenesis, Congenital diaphragmatic hernia, Absent externa... OMIM:273395
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased ly... ORPHA:169160
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... ORPHA:436159
Neu-Laxova Syndrome 1
Micromelia, Micrognathia, Calcaneovalgus deformity, Patent foramen ovale, Finger syndactyly, Spin... OMIM:256520
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Situs inversus totalis, Absent outer dynein arms, Bronchiectasi... OMIM:615500
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Joint laxity, Inguinal hernia, Hyperactivity, Ventricular septal defect, Eczema, D... OMIM:607721
Coffin-Siris Syndrome
Joint laxity, Hyperactivity, Hypospadias, Ventricular septal defect, Hepatoblastoma, Aggressive b... ORPHA:1465
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent skin infections, Recurrent upper respiratory tract inf... OMIM:619752
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Bowing of the long bones, Micromelia, Micrognathia, Cryptorchidism, Shor... OMIM:224410
Monosomy 22
Finger syndactyly, Aplasia of the thymus, Single transverse palmar crease, Seborrheic dermatitis,... ORPHA:96123
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
Hypocalciuric Hypercalcemia, Familial, Type Iii
Primary hyperparathyroidism, Osteomalacia OMIM:600740
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteopenia, Bicuspid aortic valve, Aspiration pneumonia, Vesicoureteral reflux, Atrial septal def... ORPHA:438213
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepatosplen... ORPHA:79124
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Inguinal hernia, Hyperactivity, Ventricular septal defect, Congenital diaphrag... OMIM:614294
Oligomeganephronia
Branchial cyst, Pulmonary venous occlusion, Congenital diaphragmatic hernia, Micrognathia, Secund... ORPHA:2260
Behçet Disease
Myositis, Anorexia, Infectious encephalitis, Glomerulopathy, Ataxia, Acne, Retrobulbar optic neur... ORPHA:117
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Small scrotum, Cryptorchidism, Gait ataxia, Microphallus, Low frustration toleranc... OMIM:300486
Lacrimoauriculodentodigital Syndrome
Micrognathia, Vesicoureteral reflux, Abnormal salivary gland morphology, Abnormal digit morpholog... ORPHA:2363
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Recurrent fractures, Abnormal lymph node morphology, Renal... ORPHA:97290
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Acute pancreatitis, Diabetes mellitus, Hypertriglyceride... ORPHA:412
Raine Syndrome
Increased bone mineral density, Bowing of the long bones, Micromelia, Micrognathia, Subperiosteal... OMIM:259775
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Failure to thrive in infancy, Aggressive behavior, Chronic kidney disease, Genu valg... ORPHA:488627
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Sparse eyelashes, Sparse eyebrow, Alopecia of scalp, Macroorchidism, Failure to thri... OMIM:618874
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria, Megaloblastic anemia OMIM:261100
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm... ORPHA:85445
Orofaciodigital Syndrome Type 1
Micrognathia, Reduced bone mineral density, Chronic otitis media, Clinodactyly of the 5th finger,... ORPHA:2750
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Pericarditis, Myositis, Skin rash, Elevated circulating C-reactive protein concentrati... ORPHA:32960
Fraser Syndrome 1
Aplasia/Hypoplasia of the thumb, Absent eyebrow, Hypospadias, Aplasia/Hypoplasia of the sternum, ... OMIM:219000
Tularemia
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Mediastinal lymphadenopathy, Leukocytosis,... ORPHA:3392
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Tapered toe, Sparse eyelashes, Sacral dimple, Tapere... ORPHA:544488
Craniosynostosis With Fibular Aplasia
Cryptorchidism, Single transverse palmar crease, Craniosynostosis, Fibular aplasia OMIM:218550
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull... OMIM:619727
Anterior Cutaneous Nerve Entrapment Syndrome
Inguinal hernia, Allodynia, Anorexia, Decreased body weight ORPHA:51890
White-Kernohan Syndrome
Joint laxity, Hydroureter, Obesity, Horseshoe kidney, Hip dysplasia, Rectovaginal fistula, Attent... OMIM:619426
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short palm, Patent foramen ovale, Hepatomegaly, Atelectasis, Short toe, Renal... OMIM:269860
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnormal circulating ... OMIM:226990
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Rocker bottom foot, Simplified gyral pattern, Arthrogryposis multiplex congenita, Decreased thala... OMIM:619072
Mucopolysaccharidosis Type 3
Adenoiditis, Cardiomegaly, Flexion contracture, Reduced bone mineral density, Aspiration pneumoni... ORPHA:581
Generalized Pustular Psoriasis
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... ORPHA:247353
Mowat-Wilson Syndrome
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Calcaneovalgus deformity, F... ORPHA:2152
Fraser Syndrome
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Small scrotum,... ORPHA:2052
Man1B1-Cdg
Broad-based gait, Periventricular heterotopia, 2-3 toe syndactyly, Truncal obesity, Clinodactyly ... ORPHA:397941
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Failure to thrive, Ketotic hypoglycemia, Glycosuria ORPHA:2089
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Long eyelashes, Broad lateral eyebrow, Neonatal hypoglycemia, Obesity OMIM:608624
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Recurrent fractures, Abnorma... ORPHA:319487
Childhood Absence Epilepsy
Abnormal social behavior, Depression ORPHA:64280
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Ataxia, Splenomegaly, Hyperprolinemia, Cardiomyopath... OMIM:619046
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... OMIM:615952
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... ORPHA:1451
Lysinuric Protein Intolerance
Hepatomegaly, Failure to thrive, Hypolysinemia, Recurrent fractures, Thrombocytopenia, Splenomega... OMIM:222700
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Elevated circulating thyroid-stimulating hormone concentration, Abnormal drin... ORPHA:209905
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Pes planus, Proteinuria, Ventricular septal defect, Sagittal craniosynostosis, Micrognathia, Hema... OMIM:616901
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Obesit... OMIM:250420
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Ataxia, Renal tubular dysfunction, Aminoaciduria, R... ORPHA:436271
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis OMIM:612301
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polyuria OMIM:222100
Angelman Syndrome Due To A Point Mutation
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Gait imbalance, In... ORPHA:411511
Weill-Marchesani Syndrome 1
Thin bony cortex, Joint stiffness, Broad phalanges of the hand, Broad metacarpals, Broad metatars... OMIM:277600
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Small for gestational age, Large for gestational age, Postnatal growth retardation, ... ORPHA:254534
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Abnormal central microt... OMIM:612650
Steinfeld Syndrome
Absent gallbladder, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Hypopl... OMIM:184705
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Functional abnormality of the bladder, T lymphocytopenia, Patent foramen ovale, Infec... ORPHA:391487
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Lymphadenopat... ORPHA:507
Xq21 Microdeletion Syndrome
Ataxia, Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone defici... ORPHA:1435
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Pseudo-Torch Syndrome 3
Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentrat... OMIM:618886
Primary Sclerosing Cholangitis
Osteopenia, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm ... ORPHA:171
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Lymphadenopathy, Hematuria, Irritability, Anemia, Weight loss, Neo... ORPHA:69077
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, Gait ataxia, T lymphocytopenia, Neutropeni... ORPHA:572
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal insufficiency, Toe syndactyly, Renal agenesis, Mitral atresia, Ectopic kidney, Pulmonary ar... ORPHA:140952
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Pedal edema, Increased alpha-g... ORPHA:86816
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Myositis, Sinusitis, Skin r... OMIM:617591
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Osteopetrosis ORPHA:3240
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Synophrys, Obesity, Fine hair, Overgrowth, Long eyelashes OMIM:620250
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Lupus anticoagulant, Hashimoto... OMIM:615688
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... OMIM:614699
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... OMIM:104200
Immunodeficiency 54
Recurrent respiratory infections, Failure to thrive, Hepatomegaly, Splenomegaly, Lymphadenopathy,... OMIM:609981
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Bronch... OMIM:617091
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L... OMIM:618213
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Ataxia, Increased hepatocellular lipid droplets, Tr... OMIM:220110
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Micrognathia, Pericardial effusion, Cryptorchidism,... OMIM:618183
Oculocerebral Hypopigmentation Syndrome, Preus Type
Arachnodactyly, Ataxia, Abnormality of neutrophils, Reduced bone mineral density, Abnormal hip bo... ORPHA:2720
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmunity, Elevated circu... OMIM:613011
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Akinesia, Hypochromic m... OMIM:619147
Cousin Syndrome
Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous genitalia, male... OMIM:260660
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Obesity, First degree atrioventricular block, Decreased body weight ORPHA:589821
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Renal interst... ORPHA:91500
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Urinary incontinence, Asplenia, Flexion contracture, Calcaneovalgus deformity, Ves... ORPHA:261537
Juvenile Nephropathic Cystinosis
Abnormal long bone morphology, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular... ORPHA:411634
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Maternal diabetes, Micrognathia, ... ORPHA:93346
Trichothiodystrophy 1, Photosensitive
Small for gestational age, Flexion contracture, Absence of subcutaneous fat, Keratoconjunctivitis... OMIM:601675
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Bicoronal synostosis, Hypospadias, Joint stiffness, Oral-pharyngeal dysphagia, ... OMIM:619184
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei... ORPHA:449427
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Hallermann-Streiff Syndrome
Recurrent respiratory infections, Hyperactivity, Small for gestational age, Spina bifida, Microgn... OMIM:234100
Ellis-Van Creveld Syndrome
Atrial septal defect, Hypospadias, Epispadias, Cryptorchidism, Capitate-hamate fusion, Postaxial ... OMIM:225500
Imerslund-Grasbeck Syndrome 2
Proteinuria, Megaloblastic anemia OMIM:618882
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hepatic fibrosis, Hepatomegaly, Hypospadias, Increased mean platelet volume, Abn... OMIM:222470
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Hypoglycemia, Glycogen accumulation in muscle fiber lysosomes, Exercise-... OMIM:300559
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Bronchiectasis, Abnormal central microtubular pair morphology o... OMIM:612649
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno... OMIM:210250
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... ORPHA:71212
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Osteoporosis, Lymphadenopathy, In... ORPHA:98848
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Viss Syndrome
Chronic gastritis, Micrognathia, Generalized joint laxity, Right ventricular dilatation, Increase... OMIM:619472
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Uveitis, Leukopenia, Hypoalbuminemi... ORPHA:99826
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... OMIM:200600
Mixed Connective Tissue Disease
Hemolytic anemia, Pericarditis, Myositis, Skin rash, Autoimmunity, Gastritis, Joint stiffness, He... ORPHA:809
Farber Disease
Abnormality of the knee, Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulm... ORPHA:333
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Failure to thrive, Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic ... ORPHA:275
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Osteopenia, Pes planus, Congenital hip dislocation, Hypoglycemia, Decreased response to growth ho... OMIM:616007
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conjunctivitis... OMIM:149730
Graft Versus Host Disease
Fasciitis, Myositis, Limited elbow movement, Gastrointestinal inflammation, Acute hepatitis, Stif... ORPHA:39812
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Hepatic steatosis, Accessory spleen, Microretrognathia, Multipl... OMIM:619418
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Autoimmune hemolytic anem... OMIM:614162
Bartsocas-Papas Syndrome 1
Ectopic kidney, Bilateral cryptorchidism, Micrognathia, Flexion contracture, Hypoplastic iliac wi... OMIM:263650
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Inability to walk, Unsteady gait, Elbow flexion contracture, Obesity, Finger joi... OMIM:618493
Norrie Disease
Failure to thrive, Diabetes mellitus, Cachexia, Cryptorchidism, Irritability, Self-injurious beha... ORPHA:649
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Chronic oral candidiasis, Osteomyelitis, Recurrent skin infecti... OMIM:618282
Dyskeratosis Congenita, Digenic
Failure to thrive, Abnormal palmar dermatoglyphics, Decreased circulating total IgM, Dysphagia, D... OMIM:620040
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat... ORPHA:562639
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotox... ORPHA:79102
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, Th... ORPHA:64744
6Q Terminal Deletion Syndrome
Hallux valgus, Aplasia/Hypoplasia of the ribs, Joint laxity, Hypospadias, Micrognathia, Phimosis,... ORPHA:75857
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Hypospadias, Bowing of the long bones, Micromeli... OMIM:614091
Wild Type Attr Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal pulmonary interstitial morphology, Pedal... ORPHA:330001
Marbach-Schaaf Neurodevelopmental Syndrome
Tapered finger, Aggressive behavior, Obesity, Enuresis nocturna, Attention deficit hyperactivity ... OMIM:619680
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Atrial septal defect, Hyperactivity, Congenital hip dislocation, Micrognathia, Cryptorchidism, Lo... OMIM:619512
Aspergillosis
Osteomyelitis, Sinusitis, Eosinophilia, Pneumonia, Abnormality of the kidney, Keratitis, Hypersen... ORPHA:1163
Weill-Marchesani Syndrome 2
Short metacarpal, Joint stiffness, Broad metatarsal, Elbow flexion contracture, Short metatarsal,... OMIM:608328
Tarp Syndrome
Rocker bottom foot, Postaxial polydactyly, Micrognathia, Single transverse palmar crease, Hypopla... OMIM:311900
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Chronic bronchitis, Situs inversus totalis, Abnormal axonemal o... OMIM:613808
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Recurrent respiratory infections, Absent nipple, Aplasia of the thymus, Broad hal... OMIM:620186
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... ORPHA:66529
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia... OMIM:277400
Neurotrophic Keratopathy
Diabetes mellitus, Allodynia, Corneal scarring ORPHA:137596
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Abnormal bl... OMIM:163950
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Absent in... OMIM:615444
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Obesity ORPHA:2180
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Premature ovarian insufficiency, Sandal gap, Recurrent bronchitis, D... OMIM:251260
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Anorexia, Uveitis, Inflammation of the large intestine, Emphysema, A... OMIM:181000
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... OMIM:304120
Diamond-Blackfan Anemia 21
Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Erythroid hypoplasia, Short ... OMIM:620072
Goodpasture Syndrome
Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul... OMIM:233450
Prolidase Deficiency
Hepatomegaly, Eczema, Micrognathia, Hyperimidodipeptiduria, Splenomegaly, Recurrent pneumonia, Cr... OMIM:170100
Fabry Disease
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... OMIM:301500
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... ORPHA:51636
Spinocerebellar Ataxia With Epilepsy
Dysmetria, Gait ataxia, Depression, Progressive cerebellar ataxia, Dysdiadochokinesis, Focal T2 h... ORPHA:254881
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i... OMIM:232800
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Urinary incontinence, Asplenia, Flexion contracture, Calcaneovalgus deformity, Ves... ORPHA:261552
Angelman Syndrome
Hyperactivity, Broad-based gait, Ataxia, Obesity, Progressive gait ataxia, Paroxysmal bursts of l... OMIM:105830
Microphthalmia, Syndromic 3
Vertebral fusion, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Miss... OMIM:206900
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Eosinophilia, Single transverse palma... OMIM:617425
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T... OMIM:301050
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Hypospadias, Overlapping toe, Craniosynostosis, Micrognathia, Tapered finger, Cryp... OMIM:309590
Dent Disease 2
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... OMIM:300555
Basal Ganglia Calcification, Idiopathic, 5
Athetosis, Thalamic calcification, Motor tics, Depression OMIM:615483
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Truncus Arteriosus
Atrial septal defect, Ventricular septal defect, Anomalous origin of one pulmonary artery from as... ORPHA:3384
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Pheochromocytoma, Elevated urinary vanillylmandel... ORPHA:653
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Renal insufficiency, Hy... ORPHA:650
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... ORPHA:64753
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Pes cavus, Ketonuria, Lower limb muscle weakness, Microcytic anemia, Limb-girdle muscle weakness,... OMIM:251900
Tempi Syndrome
Transudative pleural effusion, Abnormality of the kidney, Increased circulating IgG level, Increa... ORPHA:284227
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Abnormality of the kidney, Diffuse alveolar hemorrhage, Abnormal lung morphology... ORPHA:464321
Pancreatic And Cerebellar Agenesis
Diabetes mellitus, Hypoglycemia, Joint stiffness, Flexion contracture, Pancreatic hypoplasia, Ove... OMIM:609069
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Decreased circulating IgG level, Brachydactyly, Rhizomelia, Flat capital femoral epip... OMIM:271510
Ciliary Dyskinesia, Primary, 9
Male infertility, Pneumonia, Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Re... OMIM:612444
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... ORPHA:79078
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Pes planus, Failure to thrive, Broad-based gait, Eczema, Micrognathia, Aggressive behavior, Abnor... ORPHA:369950
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Coxa vara, Hyperactivity, Rhizomelia, Iliac crest serration, Hypoplasia... ORPHA:239
White-Sutton Syndrome
Joint laxity, Ventral hernia, Inguinal hernia, Hyperactivity, Duplicated collecting system, Conge... ORPHA:468678
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Recurrent ski... ORPHA:33001
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly... OMIM:608184
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:158061
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Cardiomegaly, Red-brown urine, Tubulointersti... ORPHA:228308
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Hypoalbuminemia, Infectious encephalitis, Hyponatremia, Hepatomegaly, Ataxia, Hepatos... OMIM:603553
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive, Failure to thrive in infancy, Elevated circulat... OMIM:610377
Paroxysmal Nocturnal Hemoglobinuria
Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti... ORPHA:447
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Hypoproteinemia, Peritoneal effusion, Pericardial effusion, Abno... ORPHA:90362
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Elevated circulating C-reactive protein concentration, Microcytic anemia, Recurrent pneumonia, He... OMIM:619750
Rett Syndrome
Increased serum pyruvate, Inability to walk, Hyperammonemia, Gait disturbance, Agitation, Increas... ORPHA:778
Alexander Disease Type I
Ataxia, Cachexia, Abnormal thalamic MRI signal intensity, Dysphagia, Failure to thrive ORPHA:363717
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Abnormal heart morphology, Focal T2 hyperintense thalamic lesion, Aspiration pneumoni... ORPHA:79264
Wolfram Syndrome 2
Diabetes mellitus, Primary amenorrhea, Decreased circulating antibody level, Oligomenorrhea, Impa... OMIM:604928
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... OMIM:171420
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy
Failure to thrive, Decreased thalamic volume, Dysphagia OMIM:613668
Chand Syndrome
Curly hair, Imperforate hymen, Hypohidrosis ORPHA:1401
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Exercise-induced myoglobinuria, Hyperlordosis, Kyphosis, Achilles tendon contra... OMIM:607155
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, ... ORPHA:411629
Papillorenal Syndrome
Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal cort... OMIM:120330
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Renal cyst, Pheochromocytoma, Abnormal social behavior, Carcinoid tum... ORPHA:805
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Conjugat... OMIM:619662
Nager Syndrome
Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Micrognathia, Joint stiffness, Abnorm... ORPHA:245
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Ataxia, Exercise-induced myoglobinuria, E... OMIM:300653
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Recurrent fractures, Decreased circulating antibody level, Hand clenching, Overlapp... OMIM:606056
Arima Syndrome
Hepatic fibrosis, Nephronophthisis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly,... OMIM:243910
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Anuria, Hypocalcemia, Nephrotic range proteinu... ORPHA:544482
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia OMIM:604484
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Joint laxity, Pes planus, Broad eyebrow, Lumbar hyperlordosis, Arachnodactyly, Facial hypotonia, ... ORPHA:457359
Hemophagocytic Lymphohistiocytosis, Familial, 1
Decreased HDL cholesterol concentration, Leukopenia, Hypoalbuminemia, Infectious encephalitis, Hy... OMIM:267700
Necrotizing Enterocolitis
Shock, Small for gestational age, Bradycardia, Hypotension, Abnormal glucose homeostasis, Hypergl... ORPHA:391673
Aspartylglucosaminuria
Joint laxity, Aspartylglucosaminuria, Acne, Kyphosis, Vacuolated lymphocytes, Hypoplastic frontal... OMIM:208400
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Small for gestational age, Unilateral renal age... ORPHA:93101
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Sandal gap, Proteinuria, Choreoathetosis, Joint hyperflexibi... ORPHA:2715
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Hypothyroidism, Hepatic steatosis, Hemolytic ane... OMIM:615846
Ataxia-Oculomotor Apraxia 4
Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Hyperchol... OMIM:616267
Rabin-Pappas Syndrome
Failure to thrive in infancy, Highly arched eyebrow, Retinal telangiectasia, Obesity, Overgrowth OMIM:620155
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Eczema, Perianal absce... OMIM:618935
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Single transverse palmar crease, Tubulointerstitial nephritis, Hepatic fib... OMIM:218330
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Recurrent respiratory infections, Osteomyelitis, Skin rash, Recurrent fractures, Eosi... ORPHA:2314
Acquired Hypertrichosis Lanuginosa
Weight loss, Lymphadenopathy, Ovarian neoplasm ORPHA:2221
Kniest Dysplasia
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ... ORPHA:485
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Small for gestational age, Aspiration pneumonia OMIM:619057
Okamoto Syndrome
Omphalocele, Ventricular septal defect, Urinary incontinence, Talipes, Bifid uterus, Splenomegaly... ORPHA:2729
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity, Dilated third ventricle, Spastic gait, Tip-toe gait OMIM:617296
Griscelli Syndrome
Encephalocele, Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatiti... ORPHA:381
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Pes planus, Recurrent respiratory infections, Single transverse palmar crease, Aggressive behavio... ORPHA:466950
Gamma-Heavy Chain Disease
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Skin rash, Autoimmun... ORPHA:100026
Xylt1-Cdg
Joint laxity, Pes planus, Hepatomegaly, Acne, Coxa valga, Flared metaphysis, Truncal obesity, Sho... ORPHA:370930
Aceruloplasminemia
Refractory anemia, Diabetes mellitus, Decreased circulating ceruloplasmin concentration, Decrease... ORPHA:48818
Rift Valley Fever
Skin rash, Anorexia, Jaundice, Hepatitis, Uveitis, Hematuria, Increased circulating IgG level, In... ORPHA:319251
Tubulinopathy-Associated Dysgyria
Ataxia, Attention deficit hyperactivity disorder, Pachygyria, Abnormal thalamus morphology, Agyri... ORPHA:467166
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, Ketonuria, Large for gestational age, Anemia, Aminoaciduria, Bone marrow hypocellular... OMIM:614520
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Galloway-Mowat Syndrome
Proteinuria, Camptodactyly of finger, Micrognathia, Hiatus hernia, Abnormality of neuronal migrat... ORPHA:2065
Atelosteogenesis Type Iii
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Micrognathia, ... ORPHA:56305
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Psoriasiform dermatitis, Hypoglycemia, Decreased response to gro... OMIM:615577
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricemia, Osteoma... ORPHA:3337
Robinow Syndrome, Autosomal Dominant 1
Micrognathia, Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of h... OMIM:180700
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... OMIM:610205
Legius Syndrome
Hyperactivity, Acute monocytic leukemia, Non-small cell lung carcinoma, Nephrolithiasis, Ovarian ... ORPHA:137605
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal os... OMIM:271640
Castleman Disease
Myelofibrosis, Renal insufficiency, Generalized lymphadenopathy, Increased circulating interleuki... ORPHA:160
Congenital Disorder Of Deglycosylation 2
Ulnar deviation of the hand, Genu recurvatum, Sandal gap, Micrognathia, Dysphagia, Gray matter he... OMIM:619775
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Re... OMIM:608647
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Hypoglycemia, Chronic pancrea... OMIM:232240
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Tapered finger, Irritability, Short umbilical cord, Dysphagia OMIM:618367
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared m... ORPHA:93352
Agel Amyloidosis
Proteinuria, Ataxia, Respiratory tract infection, Stage 5 chronic kidney disease, Depression, Car... ORPHA:85448
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Diastasis recti, Portal hypertension, Flexion contracture, Hepatitis, Hypoch... ORPHA:440713
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Obesity, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, A... ORPHA:209902
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a... ORPHA:35858
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Decreased muscle mass, Exercise-induced rhabdomyolysis, EMG: myopathic abnormal... ORPHA:57
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Proteinuria, Micromelia, Ulnar bowing, Madelung deformity, Hematuria, Aplasia/Hypo... ORPHA:1765
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Micromelia, Micrognathia, Cryptorchidism, Abnormal p... ORPHA:93271
Cinca Syndrome
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Pat... OMIM:607115
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Si... OMIM:617604
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Bowed forearm bones, Renal agenesis, Ectopic kidney, Absent radius, Absent ... OMIM:602200
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Glycogen Storage Disease Xii
Normocytic anemia, Short neck, Splenomegaly, Increased variability in muscle fiber diameter, Low ... OMIM:611881
Monosomy 9Q22.3
Ovarian fibroma, Rhabdomyosarcoma, Large for gestational age, Short neck, Kyphosis, Plantar pits,... ORPHA:77301
Holoprosencephaly-Caudal Dysgenesis Syndrome
Abnormal morphology of the radius, Renal insufficiency, Abnormality of the diencephalon, Radial c... ORPHA:2165
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Hyperglycemia, Failure to thrive, Hypoglycemia OMIM:615453
Immunodeficiency 22
Failure to thrive, Pericarditis, Abscess, Autoimmunity, Recurrent upper respiratory tract infecti... OMIM:615758
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Hennekam Syndrome
Finger syndactyly, Recurrent respiratory infections, Camptodactyly of finger, Craniosynostosis, E... ORPHA:2136
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... ORPHA:94093
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Unsteady gait, Gait ataxia, Nephrotic syndrome,... OMIM:254900
Mend Syndrome
Microretrognathia, Hyperactivity, Broad hallux, Overlapping toe, Micrognathia, Cryptorchidism, Lo... OMIM:300960
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612925
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Anorexia, Portal hypertension... ORPHA:824
Riddle Syndrome
Generalized lymphadenopathy, Ataxia, Pneumonia, Bronchitis, Elevated circulating alpha-fetoprotei... ORPHA:420741
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Pancreatic fibrosis, Ventricular septal defect, Postaxial polydactyly, Preaxial polyd... OMIM:615503
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Skin rash, Eosinophilia, Pustule, Myocarditis, Thyroiditis, Hepatitis, Lymph... ORPHA:139402
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocyt... ORPHA:3226
Lymphangiectasia, Intestinal
Lymphopenia, Pedal edema, Intestinal lymphangiectasia, Decreased circulating IgG level, Neonatal ... OMIM:152800
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Short neck, Low anterior hairline, Prominent fingertip pads, Tapered finger, Precocious puberty, ... OMIM:619950
Kawasaki Disease
Pericarditis, Proteinuria, Abnormal heart valve morphology, Skin rash, Recurrent pharyngitis, Leu... ORPHA:2331
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Diabetes mellitus, Anorexia, Jaundice, Extrahepatic cholestasis, Lymph... ORPHA:1333
Diamond-Blackfan Anemia 1
Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Triphalangeal thumb, Neutropeni... OMIM:105650
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Vater/Vacterl Association
Occipital encephalocele, Ectopic kidney, Preaxial polydactyly, Patent urachus, Triphalangeal thum... OMIM:192350
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Thalamic calcification, Dysmetria, Dysphagia OMIM:618317
Coasy Protein-Associated Neurodegeneration
Difficulty walking, Abnormal thalamus morphology, Compulsive behaviors ORPHA:397725
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
3Q29 Microduplication Syndrome
Toe syndactyly, Sandal gap, Ventricular septal defect, Craniosynostosis, Obesity, Camptodactyly o... ORPHA:251038
Early Infantile Epileptic Encephalopathy
Episodic ataxia, Hyperactivity, Ventricular septal defect, Precocious puberty, Pachygyria, Choreo... ORPHA:1934
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612926
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Os... ORPHA:667
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Lipoatrophy, Pulmonary... ORPHA:363618
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Limb joint contracture, Ataxia, Tapered finger, Seborrheic dermatitis, Splenomegaly... OMIM:301072
Scorpion Envenomation
Bundle branch block, Hyperhidrosis, Prominent U wave, Hyperglycemia, Priapism, Ketonuria, ST segm... ORPHA:466677
Okur-Chung Neurodevelopmental Syndrome
Inguinal hernia, Failure to thrive, Broad hallux, Ataxia, Single transverse palmar crease, Microg... OMIM:617062
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting renal tubular a... ORPHA:47159
Interstitial Lung Disease 2
Clubbing of fingers, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil pr... OMIM:178500
Toxic Epidermal Necrolysis
Abnormal vagina morphology, Pancreatitis, Weight loss ORPHA:537
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Respiratory tract infection, Perianal a... ORPHA:2686
Neutral Lipid Storage Myopathy
Diabetes mellitus, Chronic pancreatitis, Hand muscle weakness, Congestive heart failure, Fatty re... ORPHA:98908
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatome... OMIM:615387
Myopathy With Lactic Acidosis, Hereditary
Sideroblastic anemia, Skeletal muscle atrophy, Rhabdomyolysis, Leukopenia, Myopathy, Palpitations... OMIM:255125
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology ORPHA:33111
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Impaired myocardial contractility, Adrenocortical adenoma, Incr... ORPHA:681
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Scapular winging, Calf muscle pseudohypertrophy, Proximal muscle weaknes... ORPHA:352479
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Inability to walk, Decreased thalamic volume OMIM:618646
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse OMIM:123700
Distal Deletion 19P
Long toe, Vaginal hernia, Arachnodactyly, Ventricular septal defect, Decreased circulating antibo... ORPHA:96129
Good Syndrome
Abnormal leukocyte morphology, Diabetes mellitus, Thrombocytopenia, Thymoma, Decreased circulatin... ORPHA:169105
Acromesomelic Dysplasia 1
Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad... OMIM:602875
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Abnormality of female external genitalia, Vaginal fistula, Persistent cloaca ORPHA:1112
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Ataxia, Single transverse palmar crease, Unsteady gait, Decreased circulating total IgM, Decrease... OMIM:300861
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Congestive heart failure, Dilated cardiomyopathy, Rhabdomyolysis, Myop... OMIM:609015
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Arachnodactyly, Micrognathia, Congenital contracture, Talipes equinovarus, Ch... OMIM:619036
Radial Ray Hypoplasia With Choanal Atresia
Short thumb, Distally placed thumb, Hypoplasia of the radius, Small thenar eminence OMIM:179270
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Ataxi... ORPHA:713
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Elevated circulating C-reactive protei... OMIM:617099
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Hypertriglyceridemia, Ataxia, Micronodular cirrhosis, Obesity, Abnormal granulocyte... ORPHA:98907
Sézary Syndrome
Hepatomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Splenomegaly, Lymphadeno... ORPHA:3162
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Failure to thrive, Ataxia, Erythroid hypoplasia, R... OMIM:275350
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Pleuritis, Erysipelas OMIM:134610
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... ORPHA:85170
Adams-Oliver Syndrome 1
Alopecia, Toe syndactyly, Supernumerary nipple, Hypertension, Talipes equinovarus, Pulmonic steno... OMIM:100300
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... OMIM:306955
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal metatarsal morphology, Knee osteoarthritis, Flexion contracture, Uveitis, Enthesitis, Ab... ORPHA:85408
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Anorexia, Leu... ORPHA:50918
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Skeletal muscle atrophy, Tachycardia, Recurrent myoglobinuria, Glycogen accumulation ... ORPHA:368
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, Osteoarthritis, Periodontitis, Uterine rupture, Hypospadias, Cryptorc... ORPHA:286
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... ORPHA:976
Congenital Nephrotic Syndrome, Finnish Type
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... ORPHA:839
Isolated Anencephaly
Omphalocele, Thymus hyperplasia, Congenital diaphragmatic hernia, Adrenal hypoplasia, Maternal di... ORPHA:563609
Joubert Syndrome 8
Obesity OMIM:612291
Kinsship Syndrome
Osteopenia, Pes planus, Single transverse palmar crease, Micrognathia, Coxa valga, Hip dislocatio... OMIM:619297
Beta-Ketothiolase Deficiency
Ketonuria, Hypoglycemia, Leukocytosis, Weight loss, Hypertension, Hypotension, Thrombocytosis, Hy... ORPHA:134
Ciliary Dyskinesia, Primary, 1
Male infertility, Pneumonia, Absent frontal sinuses, Absent outer dynein arms, Atelectasis, Asple... OMIM:244400
Hellp Syndrome
Back pain, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Ce... ORPHA:244242
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Partial atrioventricular canal defect, Situs inversus totalis, Primum atrial septal defect, Polys... OMIM:619608
Vici Syndrome
Recurrent respiratory infections, Joint stiffness, Decreased circulating IgG2 level, Ureteral atr... ORPHA:1493
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Pes planus, Single transverse palmar crease, Aggressive behavior, Obesity, Dysphagia, Self-injuri... ORPHA:466943
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... OMIM:171480
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Rhabdomyolysis, Red-brown urine, Cardiomyopathy, Myopathy, Arrhythmia, Myoglobinuria, Hypoketotic... ORPHA:228305
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Thalamic calcification, Limb ataxia OMIM:618824
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Bowed humerus, Hypospadias, Flexion contracture, Short long bone, ... OMIM:619479
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Chronic gast... OMIM:301074
Fibrochondrogenesis 1
Omphalocele, Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypop... OMIM:228520
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Tapered finger, Elliptocytosis, Abnormal aortic... ORPHA:86818
Osteogenesis Imperfecta, Type Xvi
Microretrognathia, Angulated humerus, Bowing of the long bones, Osteopenia, Rhizomelia, Recurrent... OMIM:616229
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Jaundice, Schistocytos... OMIM:274150
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Ectopic kidney, Preaxial hand polyd... ORPHA:233
Pure Mitochondrial Myopathy
Scapular winging, Lumbar hyperlordosis, Recurrent myoglobinuria, Quadriceps muscle weakness, Rhab... ORPHA:254854
Lymphangioleiomyomatosis
Abnormal urinary color, Recurrent respiratory infections, Renal neoplasm, Atelectasis, Abnormalit... ORPHA:538
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Atrial septal defect, Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Arac... OMIM:300373
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Eczema, Splenomegaly, Leukocyto... OMIM:615895
Pheochromocytoma
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... OMIM:171300
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist... ORPHA:70591
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Abnormal social behavior ORPHA:309256
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Limb joint contracture, Small for gestational age, Decreased resting energy expenditure, Achilles... ORPHA:404454
Ciliary Dyskinesia, Primary, 19
Male infertility, Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Absen... OMIM:614935
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... OMIM:612924
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Tracheobronchial leiomyomatosis, Proteinuria, Failure to thrive, Glomerular ... OMIM:308940
Mitchell-Riley Syndrome
Absent gallbladder, Diabetes mellitus, Hyperglycemia, Annular pancreas, Pancreatic hypoplasia OMIM:615710
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Ataxia, Inability to walk, T2 hypointense thalamus, Unsteady gait, Gait ataxia, Dysphagia ORPHA:1947
Nephrotic Syndrome, Type 22
Hypoproteinemia, Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glom... OMIM:619155
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis, Decreased ... OMIM:618278
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Phocomelia, Split hand, Aplasia of the thymus, Foot polydactyly ORPHA:3004
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Anuria, Acute colitis, Leukocytosis, Schistocytosis, Elevated circ... ORPHA:90038
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Exercise-induced rhabdomyolysis, Necrotizing enterocolitis, Dicarboxylic... OMIM:201475
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Micrognathia, Flexion contracture, Recur... OMIM:614098
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Large for gestational age, Tibial bowing, Proportionate tall stature, Spin... ORPHA:500095
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... OMIM:620138
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis, Immotile sperm OMIM:242670
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Rhabdomyolysis, Red-brown urine, Stage 5 chronic kidney disease, Renal tubul... ORPHA:228302
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Bronchiectasis, Reduced sperm motility OMIM:615434
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Abnormal social behavior ORPHA:309263
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steat... OMIM:613070
Genetic Recurrent Myoglobinuria
Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Myositis, Recurrent myo... ORPHA:99845
1P21.3 Microdeletion Syndrome
Shyness, Micrognathia, Aggressive behavior, Abnormal eating behavior, Obesity, Self-injurious beh... ORPHA:293948
Becker Muscular Dystrophy
Pes planus, Abnormal urinary color, Elevated circulating creatine kinase concentration, Abnormali... ORPHA:98895
Netherton Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent skin infections, Ecz... OMIM:256500
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Hypoglycemia, Recurrent myoglobinuria, Cerebral hemorrhage, Dilated card... OMIM:620300
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr... OMIM:277460
Combined Oxidative Phosphorylation Defect Type 7
Ataxia, Oral-pharyngeal dysphagia, Inability to walk, Abnormal thalamic MRI signal intensity, Imp... ORPHA:254930
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures ORPHA:416
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Dilated cardiomyopathy, Hypoglycemic seizures, Hypertrophic cardiomyopathy... OMIM:231530
Waldenström Macroglobulinemia
Normocytic anemia, Cryoglobulinemia, Renal insufficiency, Hepatomegaly, Ataxia, Abnormality of ne... ORPHA:33226
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ... OMIM:618019
Generalized Arterial Calcification Of Infancy
Adrenal calcification, Cardiomegaly, Nephrocalcinosis, Abnormal calcification of the carpal bones... ORPHA:51608
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Dysphagia, Lymphadenopathy, Neoplasm of the lung, Weight loss, Abnor... ORPHA:1332
Primary Biliary Cholangitis
Autoimmunity, Portal hypertension, Increased circulating IgA level, Abnormality of the thyroid gl... ORPHA:186
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Diabetes mellitus, Proteinuria, Renal artery stenosis OMIM:209010
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Brachydactyly, Recurrent urinary tract infections, Eczema, Short metatarsal, Re... OMIM:617157
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo... ORPHA:167
New-Onset Refractory Status Epilepticus
Abnormal circulating interleukin concentration, Infectious encephalitis, Autoimmunity, Abnormal t... ORPHA:363558
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Painless fractures due to injury, Recurrent aspiration pneumonia, Self-mutilation, Nai... ORPHA:642
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Autoimmunity, Elevated circulating C-rea... ORPHA:85414
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Waddling gait, Broad-based gait, Elevated circulating creatine kinase concentration, Calf muscle ... ORPHA:119
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit... OMIM:260920
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Compulsive behaviors... ORPHA:2388
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Micromelia, Micrognathia, Renal hypoplasia/aplasia,... ORPHA:3015
Cystic Fibrosis
Male infertility, Hepatomegaly, Recurrent bronchopulmonary infections, Recurrent pneumonia, Cor p... OMIM:219700
Acute Disseminated Encephalomyelitis
Viral hepatitis, Anti-myelin oligodendrocyte glycoprotein antibody positivity, Ataxia, Aggressive... ORPHA:83597
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Lateral humeral condyle aplasia, Fibular hypoplasia... OMIM:164900
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Perineal fistula, Ectrodactyly, Rectovaginal fistula, Oligodactyly ORPHA:3016
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... OMIM:194380
Relapsing Polychondritis
Large vessel vasculitis, Uveitis, Conjunctivitis, Chondritis, Glomerulopathy, Alopecia, Hepatitis... ORPHA:728
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... ORPHA:370959
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Small for gestational age, Hypospadias, Hypoglycemia, Micrognathia, Highly arched eyeb... OMIM:220111
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Renal insufficiency, Hypoglycemia, Splenomegaly, Nephrocalcinosis, H... OMIM:276700
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval, Obesity OMIM:614947
Riddle Syndrome
Decreased circulating IgG level, Ataxia, Pulmonary fibrosis OMIM:611943
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration... ORPHA:2364
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne... OMIM:300908
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Immunodeficiency 96
Multicystic kidney dysplasia, Eczema, Increased proportion of gamma-delta T cells, Decreased circ... OMIM:619774
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... ORPHA:284426
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, R... OMIM:192315
Metachromatic Leukodystrophy, Adult Form
Emotional lability, Abnormal social behavior, Depression ORPHA:309271
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Glycogen Storage Disease Xi
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... OMIM:612933
Monosomy 22Q13.3
Renal dysplasia, Hyperactivity, Recurrent skin infections, Hair-pulling, Obesity, Large hands, Cl... ORPHA:48652
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Depression, Emotional lability, Lymphadeno... ORPHA:101096
Retinitis Pigmentosa 74
Obesity OMIM:616562
Cole Disease
Hyperglycemia OMIM:615522
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Myopathy OMIM:261670
Hypouricemia, Renal, 1
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... OMIM:220150
Hyperlipoproteinemia, Type I
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Pneumocystosis
Multiple pulmonary cysts, Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Int... ORPHA:723
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... ORPHA:94088
Sclerosteosis 1
Overgrowth, Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, ... OMIM:269500
Chronic Graft Versus Host Disease
Fasciitis, Alopecia, Phimosis, Flexion contracture, Xerostomia, Weight loss, Nail dystrophy, Abno... ORPHA:99921
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial septal defect,... OMIM:250220
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Simplified gyral pattern, Atrial septal defect, Emphysema, Decreased ci... ORPHA:500150
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, Clinodactyly of the 5th fin... OMIM:612474
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Pes planus, Inguinal hernia, Transient neutropenia, Ventricular septal defect, R... OMIM:617107
Combined Oxidative Phosphorylation Defect Type 23
Abnormal thalamic MRI signal intensity, Left ventricular hypertrophy, Hypertrophic cardiomyopathy... ORPHA:444013
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:268200
Pyoderma Gangrenosum
Myositis, Pustule, Atrophic scars, Inflammation of the large intestine, Increased circulating ant... ORPHA:48104
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Autoimmunity, Decreased prealbumin level, Reduced circulating t... ORPHA:90363
Common Variable Immunodeficiency
Hemolytic anemia, Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Auto... ORPHA:1572
Geleophysic Dysplasia 1
Short palm, Osteopenia, Hepatomegaly, Mitral stenosis, Camptodactyly of finger, Tricuspid stenosi... OMIM:231050
Glycogen Storage Disease V
Dark urine, Exercise-induced rhabdomyolysis, Myoglobinuria, Rhabdomyolysis OMIM:232600
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... OMIM:184253
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration OMIM:160010
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Bicornuate uterus, Hypospadias OMIM:265380
Neuroferritinopathy
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity, Difficulty walking, Dysphagia, E... ORPHA:157846
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Absent gallbladder, Diabetes mellitus, Failure to thrive, Congenital diaphr... OMIM:600001
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency, Rhabdomyolysis OMIM:255110
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Failure to thrive, Psoriasiform dermatitis, Recurrent skin infe... OMIM:615508
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Brittle hair, Hypoglycemia, Cholangitis, Ragged-red muscle fibers, Rhabdomyolysis, Lacticaciduria... OMIM:124000
Aneurysm-Osteoarthritis Syndrome
Joint laxity, Pes planus, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptod... ORPHA:284984
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Fusion of the left and right thalami, Flexion contracture, Ventricular septal defect, Accessory s... OMIM:619306
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Cr... OMIM:123550
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Decreased response t... OMIM:619503
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Flexion contracture, Generaliz... OMIM:619183
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Autoimmune hemolytic anemia, Recurrent respiratory infections, Hemoglobin... ORPHA:90035
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Antinuclear antibody positivity... OMIM:617718
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Bone marrow hypocellularity, Osteopetrosis, Secondary hyperparathyroidism, F... ORPHA:2785
Chikungunya
Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Cervical lymphadenopathy, ... ORPHA:324625
Myoglobinuria, Recurrent
Ragged-red muscle fibers, Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Sandhoff Disease, Infantile Form
Mitral valve prolapse, Abnormal thalamic MRI signal intensity, Hepatosplenomegaly ORPHA:309155
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Micrognathia, Knee flexion contracture, Abnormal calcification of... OMIM:271665
Fanconi Anemia, Complementation Group U
Absent thumb, Absent radius, Ectopic kidney, Hypoplasia of the radius, Aplasia of the 1st metacar... OMIM:617247
Classical Ehlers-Danlos Syndrome
Osteopenia, Pes planus, Phalangeal dislocation, Abnormal foot morphology, Osteoarthritis, General... ORPHA:287
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Increased circulating antibod... ORPHA:319218
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Dihydropyrimidine Dehydrogenase Deficiency
Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior ORPHA:1675
Familial Acute Necrotizing Encephalopathy
Abnormal thalamus morphology, Gait disturbance ORPHA:88619
Tibial Hemimelia
Absent tibia OMIM:275220
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:306400
Dend Syndrome
Clinodactyly of the 4th finger, Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Spl... ORPHA:90340
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Wa... OMIM:300106
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Gait ataxia, Dilated cardiomyopathy, Abnormal thalamic MRI signal intensity, Depression ORPHA:70595
Autosomal Dominant Kenny-Caffey Syndrome
Congenital hypoparathyroidism, Decreased testicular size, Abnormal circulating follicle-stimulati... ORPHA:93325
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233690
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Extrahepatic cholestasis, Lymphadenopathy, Weight loss, Iron deficiency anemi... ORPHA:100078
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria, Rhabdomyolysis OMIM:602199
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Neutrophilia, Eosinophilia, Pu... ORPHA:293173
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape, Abnormal thalamic MRI signal intensity, Dysphagia ORPHA:485421
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Unsteady gait OMIM:617542
Pyruvate Carboxylase Deficiency
Hyperglycemia, Failure to thrive, Hypoglycemia, Lacticaciduria ORPHA:3008
Acute Bilirubin Encephalopathy
Hemolytic anemia, Abnormal thalamic MRI signal intensity, Hypoalbuminemia, Prolonged neonatal jau... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Abnormal thalamic MRI signal intensity, Hypoalbuminemia, Prolonged neonatal jau... ORPHA:529808
Hereditary Cryohydrocytosis With Reduced Stomatin
Spontaneous hemolytic crises, Ataxia, Conjugated hyperbilirubinemia, Jaundice, Decreased thalamic... ORPHA:168577
Cog1-Cdg
Osteopenia, Rhizomelia, Micrognathia, Coxa valga, Flat acetabular roof, Hepatosplenomegaly, Short... ORPHA:263508
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria, Limb muscle weakness, Hemolytic anemia, Skeletal muscle atrophy OMIM:612300
Coffin-Lowry Syndrome
Uterine prolapse, Coarse hair, Thick eyebrow, Highly arched eyebrow OMIM:303600
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Hand oligodactyly, Aplasia of the ulna OMIM:276822
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia OMIM:615399
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno... ORPHA:423
Hydranencephaly
Stiff neck, Dilatation of the ventricular cavity, Thalamic edema, Dysgenesis of the thalamus, Atr... ORPHA:2177
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria, Hemolytic anemia OMIM:266120
Carney Triad
Anorexia, Mediastinal lymphadenopathy, Adrenal overactivity, Lymphadenopathy, Adrenocortical aden... ORPHA:139411
Cysticercosis
Stiff neck, Ataxia, Iridocyclitis, Emotional lability, Increased circulating antibody level, Abno... ORPHA:1560
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Recurrent respiratory infections, Renal insufficiency, Proteinuria, Abnormal pulmonary interstiti... OMIM:614748
Malt Lymphoma
Recurrent respiratory infections, Abnormality of the thyroid gland, Mediastinal lymphadenopathy, ... ORPHA:52417
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647
Holoprosencephaly 7
Fusion of the left and right thalami, Omphalocele, Occipital meningocele, Panhypopituitarism OMIM:610828
Bickerstaff Brainstem Encephalitis
Ataxia, Pneumonia, Respiratory tract infection, Autoimmune antibody positivity, Abnormal thalamic... ORPHA:79138
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, Anorexia, Cellular urinary casts, Jaundice, Hepatitis, Uve... ORPHA:509
Niemann-Pick Disease Type C
Abnormal social behavior, Low frustration tolerance, Depression ORPHA:646
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Jaundice, Weight loss, Abnormal lymph node morphology,... ORPHA:677
Loeys-Dietz Syndrome 3
Uterine prolapse, Cystocele OMIM:613795
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ... 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
Esr1em1(IMPC)Wtsi Deletion Mice
Esr1tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Esr1tm296592(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Esr1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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