Peeling Skin Syndrome 5 |
|
Scaling skin, Epidermal acanthosis |
OMIM:617115 |
Peeling Skin Syndrome 2 |
|
Scaling skin, Erythema |
OMIM:609796 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Palmoplantar scaling skin, Scaling skin, Dry skin, Erythema |
ORPHA:530838 |
Psoriasis 2 |
|
Scaling skin, Psoriasiform dermatitis, Epidermal acanthosis |
OMIM:602723 |
Keratosis Palmoplantaris Striata Ii |
|
Epidermal acanthosis |
OMIM:612908 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Peeling Skin Syndrome 3 |
|
White scaling skin |
OMIM:616265 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Cutis laxa, Hypogonadism, Scaling skin, Epidermal acanthosis, Dry skin |
ORPHA:2269 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Scaling skin |
OMIM:146590 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Scaling skin, Erythema |
OMIM:617571 |
Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
Testicular Regression Syndrome |
|
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... |
ORPHA:983 |
Acral Peeling Skin Syndrome |
|
Scaling skin, Excessive wrinkling of palmar skin, Erythema |
ORPHA:263534 |
Epidermolytic Hyperkeratosis |
|
Scaling skin, Epidermal acanthosis |
OMIM:113800 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Scaling skin, Dry skin |
OMIM:105250 |
Dowling-Degos Disease 4 |
|
Epidermal acanthosis |
OMIM:615696 |
Acral Self-Healing Collodion Baby |
|
Lack of skin elasticity, Palmoplantar scaling skin, Erythema |
ORPHA:281127 |
Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:755 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Epidermal acanthosis |
OMIM:615028 |
Palmoplantar Keratoderma, Nagashima Type |
|
Epidermal acanthosis |
OMIM:615598 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Abnormal internal genitalia, Primary amenorrhea, Aplasia of the uterus,... |
OMIM:273250 |
Verrucous Hemangioma |
|
Epidermal acanthosis |
ORPHA:464318 |
Idiopathic Localized Lipodystrophy |
|
Scaling skin, Erythema |
ORPHA:90158 |
Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Aicardi-Goutieres Syndrome 5 |
|
Scaling skin, Dry skin |
OMIM:612952 |
Acrokeratosis Verruciformis |
|
Epidermal acanthosis |
OMIM:101900 |
Lupus Erythematosus Tumidus |
|
Scaling skin |
ORPHA:90283 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of female external genitalia, Abnormality of peripheral nerve conduct... |
ORPHA:168563 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased testicular siz... |
ORPHA:52901 |
Ovarian Dysgenesis 6 |
|
Primary amenorrhea, Absence of pubertal development, Hypergonadotropic hypogonadism, Hypoplasia o... |
OMIM:618078 |
Familial Reactive Perforating Collagenosis |
|
Diabetes mellitus, Abnormal epidermal morphology |
ORPHA:79147 |
Peeling Skin Syndrome 4 |
|
Scaling skin, Epidermal acanthosis |
OMIM:607936 |
Bathing Suit Ichthyosis |
|
Palmoplantar scaling skin, Scaling skin, Epidermal acanthosis |
ORPHA:100976 |
Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... |
ORPHA:3464 |
Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... |
OMIM:300510 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... |
OMIM:614841 |
Peeling Skin Syndrome 6 |
|
Scaling skin, Dry skin |
OMIM:618084 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ... |
ORPHA:2138 |
Pemphigus Foliaceus |
|
Skin vesicle, Scaling skin, Erythema, Acantholysis, Psoriasiform dermatitis |
ORPHA:79481 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Scaling skin, Dry skin, Erythema |
OMIM:614457 |
Ovarian Dysgenesis 7 |
|
Primary amenorrhea, Delayed puberty, Hypoplasia of the uterus |
OMIM:618117 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... |
ORPHA:99429 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Epidermal acanthosis, Erythema |
OMIM:617526 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Epidermal acanthosis, Erythema |
OMIM:617525 |
Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... |
ORPHA:1916 |
Cutaneous Mastocytoma |
|
Scaling skin, Erythema |
ORPHA:79455 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Scaling skin, Epidermal acanthosis, Dry skin |
OMIM:612281 |
Ichthyosis With Confetti |
|
Scaling skin, Hypoplastic nipples |
OMIM:609165 |
Mpdu1-Cdg |
|
Scaling skin, Decreased serum insulin-like growth factor 1, Decreased response to growth hormone ... |
ORPHA:79323 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
Ichthyosis Vulgaris |
|
Dry skin, Absent keratohyalin granules |
OMIM:146700 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... |
OMIM:612965 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of female external genitalia, Epidermal acanthosis, Erythema |
ORPHA:83453 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male pseudohermaphroditism... |
ORPHA:754 |
Centrifugal Lipodystrophy |
|
Scaling skin, Erythema |
ORPHA:90156 |
Kennedy Disease |
|
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus |
ORPHA:481 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... |
OMIM:614837 |
Hypotrichosis Simplex Of The Scalp |
|
Scaling skin, Epidermal acanthosis |
ORPHA:90368 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Scaling skin, Psoriasiform lesion |
ORPHA:284426 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Acantholysis, Scaling skin, Epidermal acanthosis, Dry skin |
OMIM:616295 |
Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l... |
OMIM:612964 |
Congenital Disorder Of Glycosylation, Type If |
|
Scaling skin, Dry skin, Optic atrophy |
OMIM:609180 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Scaling skin, Dry skin, Multinodular goiter |
OMIM:618373 |
Peeling Skin Syndrome 1 |
|
Scaling skin |
OMIM:270300 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
Perrault Syndrome 6 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:617565 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the uterus |
OMIM:608996 |
Atrophoderma Vermiculata |
|
Abnormal epidermal morphology, Erythema |
ORPHA:79100 |
Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
White scaling skin, Epidermal acanthosis |
OMIM:604777 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:612310 |
Skin Fragility-Woolly Hair Syndrome |
|
Palmoplantar scaling skin, Palmoplantar erythema, Acantholysis |
OMIM:607655 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Hypoplastic labia majora, Clitoral hypoplasia, Scaling skin, Elevated circulating luteinizing hor... |
OMIM:618419 |
Bazex Syndrome |
|
Scaling skin |
ORPHA:166113 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hypothyroidism, Thyroiditis, Type I diabetes mellitus, Scaling skin, Psoriasiform dermatitis |
OMIM:606367 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Scaling skin |
OMIM:604536 |
Premature Ovarian Failure 18 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... |
OMIM:619203 |
Elastosis Perforans Serpiginosa |
|
Epidermal acanthosis, Cutis laxa |
ORPHA:79148 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
Premature Ovarian Failure 13 |
|
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... |
OMIM:617442 |
Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... |
OMIM:308750 |
46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
Mal De Meleda |
|
Epidermal acanthosis, Erythema |
ORPHA:87503 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
Perrault Syndrome 3 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:614129 |
Diffuse Cutaneous Mastocytosis |
|
Scaling skin |
ORPHA:79456 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia of the uterus, Primary amenorrhea, ... |
OMIM:158330 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Scaling skin on fingertip, Epidermal acanthosis |
ORPHA:79395 |
White Sponge Nevus 2 |
|
Epidermal acanthosis |
OMIM:615785 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Decrease... |
ORPHA:90796 |
Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... |
OMIM:617690 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Female hypogonadism, Primary amenorrhea, Impotence, Secondary amenorrhea, Decreased testicular si... |
ORPHA:432 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Epidermal acanthosis |
OMIM:618267 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Scaling skin |
ORPHA:35173 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... |
OMIM:278850 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Hydrocele testis, Anteriorly displaced urethral meatus |
OMIM:266810 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Scaling skin, Psoriasiform dermatitis, Erythema |
ORPHA:294023 |
Epidermolytic Palmoplantar Keratoderma |
|
Epidermal acanthosis |
ORPHA:2199 |
Myotonic Dystrophy 1 |
|
Facial diplegia, Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:289548 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:168558 |
Immunodeficiency 58 |
|
Scaling skin, Psoriasiform lesion |
OMIM:618131 |
Bacterial Toxic-Shock Syndrome |
|
Scaling skin, Ecchymosis |
ORPHA:36234 |
Graft Versus Host Disease |
|
Scaling skin |
ORPHA:39812 |
Superficial Epidermolytic Ichthyosis |
|
Acantholysis, Thin skin, Erythema |
ORPHA:455 |
Perrault Syndrome 4 |
|
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:615300 |
Basan Syndrome |
|
Epidermal acanthosis |
OMIM:129200 |
Kid Syndrome |
|
Scaling skin, Psoriasiform dermatitis, Epidermal acanthosis |
ORPHA:477 |
Porphyria Cutanea Tarda |
|
Scaling skin, Diabetes mellitus |
ORPHA:101330 |
Infantile Digital Fibromatosis |
|
Epidermal acanthosis |
ORPHA:199267 |
Proteus Syndrome |
|
Epidermal acanthosis |
OMIM:176920 |
Singleton-Merten Syndrome 2 |
|
Psoriasiform lesion |
OMIM:616298 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Elevated serum 11-deoxycortisol, Adrenogenital syndrome, Increased serum testosterone level, Decr... |
OMIM:202010 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Psoriasiform lesion |
ORPHA:169154 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Hypothyroidism, Thyroiditis, Type I diabetes mellitus, Psoriasiform lesion |
OMIM:614700 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
Hemochromatosis, Type 1 |
|
Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogonadism, Ame... |
OMIM:235200 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus |
OMIM:277000 |
Rare Cutaneous Lupus Erythematosus |
|
Scaling skin, Erythema, Psoriasiform lesion |
ORPHA:535 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Epidermal acanthosis |
OMIM:615022 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Scaling skin, Skin ulcer, Dry skin, Optic atrophy |
ORPHA:2526 |
Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of... |
ORPHA:65681 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Epidermal acanthosis |
OMIM:133200 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal epidermal morphology |
ORPHA:398189 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Facial erythema, Scaling skin, Dry skin |
ORPHA:1010 |
Lumbar Syndrome |
|
Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Bifid uterus, Hypospadias, Cryptorc... |
ORPHA:83628 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Epidermal acanthosis |
OMIM:616069 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Scaling skin, Urethral stricture, Anoperineal fistula |
ORPHA:158668 |
Riddle Syndrome |
|
Scaling skin, Erythema |
ORPHA:420741 |
Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,... |
OMIM:615363 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Epidermal acanthosis, Erythema |
OMIM:613943 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
External genital hypoplasia, Epidermal acanthosis, Erythema |
OMIM:242100 |
Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus, Optic atrophy, Testicular atrophy, Diabetes mellitus |
OMIM:222300 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... |
ORPHA:90794 |
Rat-Bite Fever |
|
Scaling skin, Parotitis |
ORPHA:31205 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Unicornuate uterus, Facial erythema, Decreased response to growth hormone stimulation test, Cutis... |
OMIM:619503 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Epidermal acanthosis, Erythema |
OMIM:614204 |
Restrictive Dermopathy |
|
Webbed neck, Dermal translucency, Congenital adrenal hypoplasia, Scaling skin, Hypospadias, Aplas... |
ORPHA:1662 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Pseudopapilledema, Aplasia of the uterus, Hypoparathyroidism, Primary amenorrhea, Septate vagina,... |
OMIM:146255 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Epidermal acanthosis |
OMIM:148600 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Epidermal acanthosis |
OMIM:615735 |
Aarskog-Scott Syndrome |
|
Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentration, Testicular a... |
OMIM:305400 |
Restrictive Dermopathy 1 |
|
Thin skin, Hypospadias, Scaling skin, Adrenal hypoplasia |
OMIM:275210 |
Parkes Weber Syndrome |
|
Scaling skin, Skin ulcer |
ORPHA:90307 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Perianal erythema, Aganglionic megacolon, Scaling skin, Hypospadias, Cryptorchidism, Dry skin |
OMIM:308205 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Epidermal acanthosis |
OMIM:610227 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Abnormal epidermal morphology, Epidermal acanthosis, Prostate cancer |
ORPHA:79501 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vaginal atresia, Parathyroid hypoplasia, Aplasia of the uterus, Diabetes mellitus, Hypoparathyroi... |
ORPHA:2237 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mellitus, Decreas... |
ORPHA:465508 |
Familial Benign Chronic Pemphigus |
|
Acantholysis, Skin vesicle, Erythema |
ORPHA:2841 |
Olmsted Syndrome, X-Linked |
|
Epidermal acanthosis |
OMIM:300918 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Epidermal acanthosis, Dry skin, Optic disc pallor |
OMIM:618527 |
Chronic Actinic Dermatitis |
|
Epidermal acanthosis |
ORPHA:330064 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Epidermal acanthosis |
OMIM:148700 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Epidermal acanthosis |
OMIM:613102 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Testicular atrophy, Hypergonadotropic hypo... |
OMIM:157640 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Psoriasiform dermatitis, Psoriasiform lesion |
ORPHA:85436 |
Ichthyosis Prematurity Syndrome |
|
Epidermal acanthosis |
OMIM:608649 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Thyroiditis, Epidermal acanthosis, Dry skin |
OMIM:617388 |
Huriez Syndrome |
|
Epidermal acanthosis |
OMIM:181600 |
Limb-Mammary Syndrome |
|
Aplasia of the ovary, Absent nipple, Breast aplasia, Aplasia of the uterus, Dry skin, Primary ame... |
ORPHA:69085 |
Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular size, Premat... |
OMIM:241080 |
Acrokeratosis Verruciformis Of Hopf |
|
Acantholysis, Epidermal acanthosis |
ORPHA:79151 |
Acrokeratoelastoidosis Of Costa |
|
Epidermal acanthosis |
ORPHA:38 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Epidermal acanthosis |
OMIM:242300 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Epidermal acanthosis |
OMIM:616029 |
Pontocerebellar Hypoplasia Type 7 |
|
Ambiguous genitalia, Absent penis, Optic atrophy, Microphallus, Aplasia of the uterus, Gonadal dy... |
ORPHA:284339 |
Cole Disease |
|
Epidermal acanthosis |
OMIM:615522 |
Popliteal Pterygium Syndrome |
|
Hypoplasia of the vagina, Bifid scrotum, Hypoplastic labia majora, Cryptorchidism, Small scrotum,... |
OMIM:119500 |
Oeis Complex |
|
Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male, La... |
OMIM:258040 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Epidermal acanthosis, Bile duct proliferation, Dry skin |
OMIM:607626 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Epidermal acanthosis |
OMIM:615023 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Epidermal acanthosis |
OMIM:615225 |
Pseudoxanthoma Elasticum |
|
Optic disc drusen, Civatte bodies, Cutis laxa |
OMIM:264800 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Abnormal reproductive system morphology, Webbed neck, Supernumerary nipple |
ORPHA:1521 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
X-Linked Intellectual Disability, Snyder Type |
|
Webbed neck, Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism |
ORPHA:3063 |
Olmsted Syndrome 2 |
|
Epidermal acanthosis |
OMIM:619208 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Absent external genitalia, Aplasia of the vagina, Aplasia of the uterus |
OMIM:271520 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
Odontoonychodermal Dysplasia |
|
Palmoplantar erythema, Epidermal acanthosis, Dry skin, Erythema |
OMIM:257980 |
Chromosome 17Q12 Deletion Syndrome |
|
Unicornuate uterus, Aplasia of the uterus, Urethral stenosis, Cryptorchidism, Ovarian cyst, Aplas... |
OMIM:614527 |
Meckel Syndrome 14 |
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Aplasia of the uterus, Ambiguous genitalia |
OMIM:619879 |
Fanconi Anemia, Complementation Group L |
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Aplasia of the uterus, Webbed neck, Micropenis |
OMIM:614083 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
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Epidermal acanthosis |
OMIM:612852 |
Phocomelia, Schinzel Type |
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Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism |
ORPHA:2879 |
Steinert Myotonic Dystrophy |
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Decreased fertility, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Imp... |
ORPHA:273 |
Exstrophy-Epispadias Complex |
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Female sexual dysfunction, Absent penis, Bifid scrotum, Penoscrotal transposition, Male sexual dy... |
ORPHA:322 |
Thrombocytopenia-Absent Radius Syndrome |
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Aplasia of the uterus |
ORPHA:3320 |
Naxos Disease |
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Acantholysis, Epidermal acanthosis |
OMIM:601214 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
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Epidermal acanthosis, Thyroid hypoplasia, Erythema, Adrenal hypoplasia |
OMIM:308050 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia |
ORPHA:457284 |
Loeys-Dietz Syndrome |
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Thin skin, Uterine rupture, Striae distensae |
ORPHA:60030 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Pancreatic hypoplasia, Biliary hyperplasia, Cryptorchidism, Cholelithiasis, Epidermal acanthosis,... |
ORPHA:83617 |
Ehlers-Danlos Syndrome, Vascular Type |
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Cervical insufficiency, Dermal translucency, Uterine rupture, Ecchymosis, Cryptorchidism, Cystoce... |
OMIM:130050 |
Cardiac-Urogenital Syndrome |
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Ambiguous genitalia, Bifid scrotum, Unilateral cryptorchidism, Aplasia of the uterus, Penoscrotal... |
OMIM:618280 |
Wolf-Hirschhorn Syndrome |
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Precocious puberty, Webbed neck, Aplasia of the uterus, Hypospadias, Cryptorchidism |
OMIM:194190 |
Okamoto Syndrome |
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Bifid uterus, Webbed neck, Redundant neck skin |
ORPHA:2729 |
Thrombocytopenia-Absent Radius Syndrome |
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Pancreatic cysts, Aplasia of the uterus |
OMIM:274000 |
Townes-Brocks Syndrome 1 |
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Hypothyroidism, Bifid scrotum, Rectoperineal fistula, Bifid uterus, Hypospadias, Cryptorchidism, ... |
OMIM:107480 |
Vascular Ehlers-Danlos Syndrome |
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Thin skin, Dermal translucency, Uterine rupture, Redundant skin, Hypospadias, Cryptorchidism, Cys... |
ORPHA:286 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Anteriorly displaced genitalia, Aplasia of the uterus, Hypospadias, Cryptorchidism, Hypoplastic n... |
OMIM:276820 |
Norrie Disease |
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Optic atrophy, Uterine rupture, Erectile dysfunction, Diabetes mellitus, Delayed puberty, Cryptor... |
ORPHA:649 |
Coffin-Siris Syndrome 1 |
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Aplasia of the uterus, Hypospadias, Clitoral hypertrophy, Cryptorchidism |
OMIM:135900 |
Hydrolethalus Syndrome 1 |
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Bifid uterus, Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology |
OMIM:236680 |
Neu-Laxova Syndrome 1 |
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Bifid uterus, Cryptorchidism |
OMIM:256520 |
Pallister-Killian Syndrome |
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Webbed neck, Labial hypoplasia, Aplasia of the upper vagina, Supernumerary nipple, Hypoplastic la... |
OMIM:601803 |