| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Peeling Skin Syndrome 5 |
|
Epidermal acanthosis, Scaling skin |
OMIM:617115 |
| Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
| Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Palmoplantar scaling skin, Erythema, Scaling skin, Dry skin |
ORPHA:530838 |
| Peeling Skin Syndrome 3 |
|
Erythema, White scaling skin |
OMIM:616265 |
| Psoriasis 2 |
|
Psoriasiform dermatitis, Epidermal acanthosis, Scaling skin |
OMIM:602723 |
| Keratosis Palmoplantaris Striata Ii |
|
Epidermal acanthosis |
OMIM:612908 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
| Ichthyosis Hystrix, Curth-Macklin Type |
|
Scaling skin |
OMIM:146590 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Erythema, Scaling skin |
OMIM:617571 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Epidermal acanthosis, Cutis laxa, Hypogonadism, Scaling skin, Dry skin |
ORPHA:2269 |
| Acral Peeling Skin Syndrome |
|
Erythema, Scaling skin, Excessive wrinkling of palmar skin |
ORPHA:263534 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Epidermolytic Hyperkeratosis 1 |
|
Epidermal acanthosis, Scaling skin |
OMIM:113800 |
| Dowling-Degos Disease 4 |
|
Epidermal acanthosis |
OMIM:615696 |
| Amyloidosis, Primary Localized Cutaneous, 1 |
|
Dry skin, Scaling skin |
OMIM:105250 |
| Acral Self-Healing Collodion Baby |
|
Palmoplantar scaling skin, Erythema, Lack of skin elasticity |
ORPHA:281127 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Epidermal acanthosis |
OMIM:615028 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Epidermal acanthosis |
OMIM:615598 |
| 46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
| Verrucous Hemangioma |
|
Epidermal acanthosis |
ORPHA:464318 |
| Idiopathic Localized Lipodystrophy |
|
Erythema, Scaling skin |
ORPHA:90158 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
| Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Scaling skin |
OMIM:612952 |
| Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
| Acrokeratosis Verruciformis |
|
Epidermal acanthosis |
OMIM:101900 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Lupus Erythematosus Tumidus |
|
Scaling skin |
ORPHA:90283 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Peeling Skin Syndrome 4 |
|
Epidermal acanthosis, Scaling skin |
OMIM:607936 |
| Familial Reactive Perforating Collagenosis |
|
Diabetes mellitus, Abnormal epidermal morphology |
ORPHA:79147 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
| Bathing Suit Ichthyosis |
|
Palmoplantar scaling skin, Epidermal acanthosis, Scaling skin |
ORPHA:100976 |
| Peeling Skin Syndrome 6 |
|
Dry skin, Scaling skin |
OMIM:618084 |
| Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Scaling skin |
OMIM:620148 |
| Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Erythema, Scaling skin, Skin vesicle |
ORPHA:79481 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Premature ovarian insufficiency, Streak ovary, Decrea... |
ORPHA:3464 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Dry skin, Scaling skin |
OMIM:614457 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Hypoplasia of the ... |
OMIM:614841 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Dry skin, Epidermal acanthosis, Scaling skin |
OMIM:612281 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Erythema, Epidermal acanthosis |
OMIM:617526 |
| Cutaneous Mastocytoma |
|
Erythema, Scaling skin |
ORPHA:79455 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... |
ORPHA:99429 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
| Ichthyosis Vulgaris |
|
Absent keratohyalin granules, Dry skin |
OMIM:146700 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... |
OMIM:618078 |
| Ichthyosis With Confetti |
|
Hypoplastic nipples, Scaling skin |
OMIM:609165 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Dry skin, Epidermal acanthosis, Scaling skin, Acantholysis |
OMIM:616295 |
| Mpdu1-Cdg |
|
Decreased serum insulin-like growth factor 1, Optic atrophy, Scaling skin, Decreased response to ... |
ORPHA:79323 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
| Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Centrifugal Lipodystrophy |
|
Erythema, Scaling skin |
ORPHA:90156 |
| Hypotrichosis Simplex Of The Scalp |
|
Epidermal acanthosis, Scaling skin |
ORPHA:90368 |
| Ichthyosis, Annular Epidermolytic, 1 |
|
Erythema, Scaling skin |
OMIM:607602 |
| Congenital Disorder Of Glycosylation, Type If |
|
Dry skin, Optic atrophy, Scaling skin |
OMIM:609180 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Psoriasiform lesion, Scaling skin |
ORPHA:284426 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... |
OMIM:300510 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of female external genitalia, Erythema, Epidermal acanthosis |
ORPHA:83453 |
| Peeling Skin Syndrome 1 |
|
Scaling skin |
OMIM:270300 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Dry skin, Multinodular goiter, Scaling skin |
OMIM:618373 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... |
OMIM:612965 |
| Atrophoderma Vermiculata |
|
Abnormal epidermal morphology, Erythema |
ORPHA:79100 |
| Recon Progeroid Syndrome |
|
Dry skin, Scaling skin, Thin skin |
OMIM:620370 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
| Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Epidermal acanthosis, White scaling skin |
OMIM:604777 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Scaling skin |
OMIM:604536 |
| Bazex Syndrome |
|
Scaling skin |
ORPHA:166113 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Elastosis Perforans Serpiginosa |
|
Epidermal acanthosis, Cutis laxa |
ORPHA:79148 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplastic labia major... |
OMIM:618419 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Thyroiditis, Scaling skin, Type I diabetes mellitus, Hypothyroidism |
OMIM:606367 |
| Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
| 46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
| Acute Generalized Exanthematous Pustulosis |
|
Skin vesicle, Purpura, Scaling skin, Acantholysis |
ORPHA:293173 |
| Mal De Meleda |
|
Erythema, Epidermal acanthosis |
ORPHA:87503 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
| Diffuse Cutaneous Mastocytosis |
|
Scaling skin |
ORPHA:79456 |
| Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Scaling skin on fingertip, Epidermal acanthosis |
ORPHA:79395 |
| Acute Radiation Syndrome |
|
Scaling skin, Skin ulcer |
ORPHA:454831 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... |
ORPHA:432 |
| White Sponge Nevus 2 |
|
Epidermal acanthosis |
OMIM:615785 |
| Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
| Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Epidermal acanthosis |
OMIM:618267 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Scaling skin |
ORPHA:35173 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Palmoplantar erythema, Palmoplantar scaling skin, Acantholysis |
OMIM:605676 |
| Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Facial diplegia, Testicular atrophy |
OMIM:160900 |
| Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Psoriasiform dermatitis, Erythema, Scaling skin |
ORPHA:294023 |
| Epidermolytic Palmoplantar Keratoderma |
|
Epidermal acanthosis |
ORPHA:2199 |
| Superficial Epidermolytic Ichthyosis |
|
Erythema, Thin skin, Acantholysis |
ORPHA:455 |
| Graft Versus Host Disease |
|
Scaling skin |
ORPHA:39812 |
| Immunodeficiency 58 |
|
Psoriasiform lesion, Scaling skin |
OMIM:618131 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... |
ORPHA:90796 |
| Bacterial Toxic-Shock Syndrome |
|
Ecchymosis, Scaling skin |
ORPHA:36234 |
| Kid Syndrome |
|
Psoriasiform dermatitis, Epidermal acanthosis, Scaling skin |
ORPHA:477 |
| Infantile Digital Fibromatosis |
|
Epidermal acanthosis |
ORPHA:199267 |
| Proteus Syndrome |
|
Epidermal acanthosis |
OMIM:176920 |
| Basan Syndrome |
|
Epidermal acanthosis |
OMIM:129200 |
| Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Psoriasiform lesion |
ORPHA:169154 |
| Porphyria Cutanea Tarda |
|
Diabetes mellitus, Scaling skin |
ORPHA:101330 |
| Singleton-Merten Syndrome 2 |
|
Psoriasiform lesion |
OMIM:616298 |
| 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 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... |
ORPHA:289548 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion |
ORPHA:163525 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Type I diabetes mellitus, Hypothyroidism, Psoriasiform lesion, Thyroiditis |
OMIM:614700 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Ambiguous genital... |
OMIM:202010 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Reduced epidermal extracellular matrix protein 1 protein expression |
OMIM:247100 |
| Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Epidermal acanthosis |
OMIM:615022 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Dry skin, Scaling skin, Facial erythema |
ORPHA:1010 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Dry skin, Optic atrophy, Scaling skin, Skin ulcer |
ORPHA:2526 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Epidermal acanthosis |
OMIM:133200 |
| Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Erythema, Epidermal acanthosis |
OMIM:613943 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal epidermal morphology |
ORPHA:398189 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Epidermal acanthosis |
OMIM:616069 |
| Riddle Syndrome |
|
Erythema, Scaling skin |
ORPHA:420741 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
| Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Optic atrophy, Hypothyroidism, Testicular atrophy |
OMIM:222300 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Congenital Horner syndrome, Decreased response to growth hormone stimulation test, Cryptorchidism... |
OMIM:619503 |
| Psoriasis 14, Pustular |
|
Erythema, Epidermal acanthosis, Psoriasiform dermatitis |
OMIM:614204 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
| Restrictive Dermopathy |
|
Hypospadias, Aplasia/Hypoplastia of the eccrine sweat glands, Scaling skin, Webbed neck, Congenit... |
ORPHA:1662 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Epidermal acanthosis |
OMIM:148600 |
| Rat-Bite Fever |
|
Scaling skin, Parotitis |
ORPHA:31205 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Erythema, Epidermal acanthosis, External genital hypoplasia |
OMIM:242100 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Erythema, Epidermal acanthosis |
OMIM:617525 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Epidermal acanthosis |
OMIM:615735 |
| Restrictive Dermopathy 1 |
|
Hypospadias, Scaling skin, Adrenal hypoplasia, Thin skin |
OMIM:275210 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... |
OMIM:146255 |
| Parkes Weber Syndrome |
|
Scaling skin, Skin ulcer |
ORPHA:90307 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... |
OMIM:615363 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Epidermal acanthosis |
OMIM:610227 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Perianal erythema, Hypospadias, Aganglionic megacolon, Cryptorchidism, Scaling skin, Dry skin |
OMIM:308205 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Anoperineal fistula, Scaling skin |
ORPHA:158668 |
| Familial Benign Chronic Pemphigus |
|
Skin vesicle, Erythema, Acantholysis |
ORPHA:2841 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... |
ORPHA:465508 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Abnormal epidermal morphology, Epidermal acanthosis, Prostate cancer |
ORPHA:79501 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Epidermal acanthosis |
OMIM:613102 |
| Chronic Actinic Dermatitis |
|
Epidermal acanthosis |
ORPHA:330064 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Dry skin, Epidermal acanthosis |
OMIM:618527 |
| Olmsted Syndrome, X-Linked |
|
Epidermal acanthosis |
OMIM:300918 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Psoriasiform dermatitis, Septate vagina, Uterus didelphys,... |
ORPHA:2237 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial palsy, Primary amenorrhea... |
OMIM:157640 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Epidermal acanthosis |
OMIM:148700 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Psoriasiform dermatitis, Psoriasiform lesion |
ORPHA:85436 |
| Ichthyosis Prematurity Syndrome |
|
Epidermal acanthosis |
OMIM:608649 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Dry skin, Epidermal acanthosis, Thyroiditis |
OMIM:617388 |
| Acrokeratosis Verruciformis Of Hopf |
|
Epidermal acanthosis, Acantholysis |
ORPHA:79151 |
| Acrokeratoelastoidosis Of Costa |
|
Epidermal acanthosis |
ORPHA:38 |
| Huriez Syndrome |
|
Epidermal acanthosis |
OMIM:181600 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Epidermal acanthosis |
OMIM:242300 |
| Cole Disease |
|
Epidermal acanthosis |
OMIM:615522 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Epidermal acanthosis |
OMIM:616029 |
| Limb-Mammary Syndrome |
|
Absent nipple, Psoriasiform dermatitis, Primary amenorrhea, Bilateral breast hypoplasia, Breast a... |
ORPHA:69085 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Epidermal acanthosis |
OMIM:615023 |
| Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... |
ORPHA:284339 |
| Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Bile duct proliferation, Dry skin, Epidermal acanthosis |
OMIM:607626 |
| Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Epidermal acanthosis |
OMIM:615225 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Cryptorchidism, Abnormality of the Leydig cells, Webbed neck, Testicular atrophy |
ORPHA:3063 |
| Pseudoxanthoma Elasticum |
|
Civatte bodies, Optic disc drusen, Cutis laxa |
OMIM:264800 |
| Olmsted Syndrome 2 |
|
Epidermal acanthosis |
OMIM:619208 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Webbed neck, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Odontoonychodermal Dysplasia |
|
Palmoplantar erythema, Erythema, Dry skin, Epidermal acanthosis |
OMIM:257980 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Epidermal acanthosis |
OMIM:612852 |
| Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus, Webbed neck |
OMIM:614083 |
| Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
| Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
| Naxos Disease |
|
Epidermal acanthosis, Acantholysis |
OMIM:601214 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma... |
ORPHA:322 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus |
ORPHA:457284 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Erythema, Epidermal acanthosis, Thyroid hypoplasia, Adrenal hypoplasia |
OMIM:308050 |
| Loeys-Dietz Syndrome |
|
Thin skin, Striae distensae, Uterine rupture |
ORPHA:60030 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Epidermal acanthosis, Biliary hyperplasia, Cryptorchidism, Cholelithiasis, Micropenis, Pancreatic... |
ORPHA:83617 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... |
OMIM:618280 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse, Ecchymosis,... |
OMIM:130050 |
| Wolf-Hirschhorn Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Aplasia of the uterus, Webbed neck |
OMIM:194190 |
| Okamoto Syndrome |
|
Webbed neck, Redundant neck skin, Bifid uterus |
ORPHA:2729 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Pancreatic cysts, Aplasia of the uterus |
OMIM:274000 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Redundant skin, Cryptorchidism, Cystocele, Excessive wrinkled skin, Thin skin, Uteri... |
ORPHA:286 |
| Norrie Disease |
|
Diabetes mellitus, Cryptorchidism, Optic atrophy, Uterine rupture, Erectile dysfunction, Delayed ... |
ORPHA:649 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... |
OMIM:276820 |
| Coffin-Siris Syndrome 1 |
|
Cryptorchidism, Clitoral hypertrophy, Hypospadias, Aplasia of the uterus |
OMIM:135900 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... |
OMIM:107480 |
| Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Bifid uterus |
OMIM:256520 |
| Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Hypospadias, Adrenal gland dysgenesis, Bifid uterus |
OMIM:236680 |
| Pallister-Killian Syndrome |
|
Small scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Webbed neck, Hypoplastic labia ... |
OMIM:601803 |
