| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... |
OMIM:617571 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
| Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis |
ORPHA:464318 |
| Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
| Porokeratosis Plantaris Palmaris Et Disseminata |
|
Pruritus, Hyperkeratotic papule, Palmoplantar hyperkeratosis, Porokeratosis |
ORPHA:737 |
| Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis |
ORPHA:139414 |
| Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Acrokeratosis |
OMIM:101900 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosifor... |
OMIM:604777 |
| Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Porokeratosis |
ORPHA:735 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Epidermal acanthosis, Erythroderma, Hyperkeratosis, Palmoplantar keratoderma, Gene... |
OMIM:612281 |
| Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Perifolliculitis, Abnormal pinna morphology, Maculopapular ... |
ORPHA:79147 |
| Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:613943 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Scaling skin on fingertip, Epidermal acanthosis, Hypergranulosis, Sensorineural he... |
ORPHA:79395 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis |
OMIM:148600 |
| Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin |
OMIM:146590 |
| Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... |
OMIM:620148 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:615028 |
| Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
| Peeling Skin Syndrome 4 |
|
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthoke... |
OMIM:607936 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:617574 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Epidermal acanthosis, Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr... |
OMIM:615023 |
| Dowling-Degos Disease 2 |
|
Reticular hyperpigmentation, Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis |
OMIM:615327 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Epidermal acanthosis, Scaling skin |
OMIM:617115 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Multiple cafe-au-lait spots, Hyperkeratosis, Irregular hyperpigmentation |
ORPHA:1336 |
| Epidermolytic Hyperkeratosis 1 |
|
Epidermal acanthosis, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform erythroderma,... |
OMIM:113800 |
| Ichthyosis, Annular Epidermolytic, 1 |
|
Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Congenital b... |
OMIM:607602 |
| Psoriasis 2 |
|
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin |
OMIM:602723 |
| Dowling-Degos Disease 1 |
|
Progressive reticulate hyperpigmentation |
OMIM:179850 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthok... |
OMIM:617525 |
| Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Erythema, Atop... |
ORPHA:530838 |
| Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
| Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
| Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
| Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
| Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
| Cole Disease |
|
Epidermal acanthosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:615522 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Sensorineural hearing impairment, Palmoplantar keratoderma |
ORPHA:2202 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis |
ORPHA:79503 |
| Acrokeratoelastoidosis Of Costa |
|
Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratoti... |
ORPHA:38 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
| Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Generalized hyperpigmentation |
ORPHA:2297 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
| Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
| Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
| Keratosis Palmoplantaris Striata Ii |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:612908 |
| Aquagenic Palmoplantar Keratoderma |
|
Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic... |
ORPHA:498359 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
| Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation, Hyperkeratosis |
ORPHA:315 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou... |
OMIM:617526 |
| Uv-Sensitive Syndrome 2 |
|
Freckling |
OMIM:614621 |
| Bazex Syndrome |
|
Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosi... |
ORPHA:166113 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
| Adrenocortical Unresponsiveness To Acth With Postreceptor Defect |
|
Hyperpigmentation of the skin |
OMIM:202355 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Pru... |
ORPHA:79399 |
| Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
| Ulerythema Ophryogenesis |
|
Acne, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, Contact dermat... |
ORPHA:3406 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Epidermal acanthosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generali... |
OMIM:133200 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep... |
ORPHA:87503 |
| Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
| Idiopathic Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Pruritus, Erythema, Scaling skin, Scleroderma, Morphea, Hyp... |
ORPHA:90158 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
| Bathing Suit Ichthyosis |
|
Parakeratosis, Epidermal acanthosis, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, P... |
ORPHA:100976 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
| Diamond-Blackfan Anemia 17 |
|
Hyperpigmentation of the skin |
OMIM:617409 |
| Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
| Linear Atrophoderma Of Moulin |
|
Inflammatory abnormality of the skin, Scleroderma, Linear hyperpigmentation, Pruritus |
ORPHA:140933 |
| Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... |
ORPHA:454 |
| Dyschromatosis Universalis Hereditaria |
|
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... |
ORPHA:241 |
| Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Hyperkeratosis, Hypermelanotic macule,... |
ORPHA:69125 |
| Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Epidermal acanthosis, Crusting erythematous dermatitis, Cutis laxa |
ORPHA:79148 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Parana Hard Skin Syndrome |
|
Hyperkeratosis, Generalized hyperpigmentation, Thickened skin |
ORPHA:2812 |
| Dowling-Degos Disease 4 |
|
Pruritus, Epidermal acanthosis, Hypergranulosis |
OMIM:615696 |
| Acral Peeling Skin Syndrome |
|
Erythema, Scaling skin, Hyperpigmentation of the skin, Excessive wrinkling of palmar skin |
ORPHA:263534 |
| Atrophoderma Vermiculata |
|
Pruritus, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule |
ORPHA:79100 |
| Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Eosinophilic i... |
OMIM:615508 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
| Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
| Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Epidermal acanthosis, Hypergranulosis, Ichthyosis, Palmoplantar keratoderma, Erythroderma |
OMIM:615022 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Epidermal acanthosis, Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkerat... |
OMIM:616295 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Pruritus, Perifollicular hyperkeratosis |
ORPHA:505 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis, Hypopigmentation of the skin, Hyperpigment... |
ORPHA:89838 |
| Hypotrichosis Simplex Of The Scalp |
|
Parakeratosis, Epidermal acanthosis, Allergic rhinitis, Pruritus, Atopic dermatitis, Hyperkeratos... |
ORPHA:90368 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla... |
ORPHA:312 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa |
OMIM:617337 |
| Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis, Epidermal acanthosis |
ORPHA:199267 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation, Hearing impairment |
OMIM:300719 |
| Ichthyosis With Confetti |
|
Pruritus, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital nonbullous ichthyos... |
OMIM:609165 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| 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 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis,... |
OMIM:145250 |
| Tietz Syndrome |
|
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of th... |
ORPHA:42665 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis |
OMIM:610227 |
| Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Erythema, Crusting erythematous dermati... |
ORPHA:79481 |
| Classic Mycosis Fungoides |
|
Skin rash, Eczema, Edema, Pruritus, Erythema, Hypopigmented skin patches, Skin ulcer, Hyperkerato... |
ORPHA:2584 |
| Ichthyosis Prematurity Syndrome |
|
Epidermal acanthosis, Allergic rhinitis, Polyhydramnios, Pruritus, Generalized ichthyosis, Follic... |
OMIM:608649 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k... |
ORPHA:2897 |
| Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| White Sponge Nevus 2 |
|
Hyperparakeratosis, Epidermal acanthosis, Edema |
OMIM:615785 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ... |
ORPHA:90280 |
| Epidermolytic Palmoplantar Keratoderma |
|
Epidermal acanthosis, Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkerato... |
ORPHA:2199 |
| Lichen Planus Pemphigoides |
|
Pruritus, Hyperkeratosis, Hypopigmented streaks, Conjunctivitis, Skin vesicle, Blepharitis |
ORPHA:254478 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Eosinophilia, Acantholysis, Facial edema, Pruritus,... |
ORPHA:293173 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Posterior blepharitis, Palmoplanta... |
OMIM:300918 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Parakeratosis, Epidermal acanthosis, Pruritus, Sclerosing cholangitis, Ichthyosis, Orthokeratosis... |
OMIM:607626 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly |
OMIM:212360 |
| Lupus Erythematosus Tumidus |
|
Scaling skin, Depigmentation/hyperpigmentation of skin |
ORPHA:90283 |
| Olmsted Syndrome 2 |
|
Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar h... |
OMIM:619208 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Generalized reticulate brown pigmentation, ... |
ORPHA:158681 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... |
ORPHA:64745 |
| Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
| Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Glucocorticoid Deficiency 3 |
|
Hyperpigmentation of the skin |
OMIM:609197 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Sensorineural hearing impairment, Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Cobb... |
OMIM:602540 |
| Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Epidermal acanthosis, Cutis laxa, Scaling skin, Generalized ichthyosis, Dry skin, Generalized hyp... |
ORPHA:2269 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Reduced epidermal extracellular matrix protein 1 protein expression, Thickened skin |
OMIM:247100 |
| Darier Disease |
|
Acrokeratosis, Hypermelanotic macule, Pruritus, Thickened skin, Abnormality of skin pigmentation,... |
ORPHA:218 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613737 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Hypermelanotic macule, Palmoplantar keratoderma, Hypomelanotic macule, Scaling skin, Freckling, D... |
OMIM:618373 |
| Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Malar rash |
ORPHA:163525 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
| Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Scali... |
ORPHA:454831 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Erythrokeratodermia Variabilis |
|
Skin rash, Hypermelanotic macule, Erythema, Patchy palmoplantar hyperkeratosis, Protruding ear, H... |
ORPHA:317 |
| Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo... |
OMIM:614457 |
| Darier-White Disease |
|
Hypermelanotic macule, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratotic fragments |
OMIM:124200 |
| Vulvovaginal Gingival Syndrome |
|
Pruritus, Parakeratosis, Erythema, Epidermal acanthosis |
ORPHA:83453 |
| Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
| Superficial Epidermolytic Ichthyosis |
|
Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Ichthyosis |
ORPHA:455 |
| Amyloidosis, Primary Localized Cutaneous, 3 |
|
Generalized hyperpigmentation, Hypermelanotic macule, Dry skin |
OMIM:617920 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus |
ORPHA:2435 |
| Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
| Ichthyosis Vulgaris |
|
Eczematoid dermatitis, Absent keratohyalin granules, Dry skin, Ichthyosis |
OMIM:146700 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
| Hypotrichosis 6 |
|
Pruritus, Erythema, Follicular hyperkeratosis |
OMIM:607903 |
| Congenital Disorder Of Glycosylation, Type If |
|
Hyperkeratosis, Dry skin, Scaling skin, Erythroderma |
OMIM:609180 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... |
OMIM:614840 |
| Basan Syndrome |
|
Epidermal acanthosis, Single transverse palmar crease, Hypermelanotic macule, Tapered finger, Cut... |
OMIM:129200 |
| Peeling Skin Syndrome 3 |
|
Pruritus, Erythema, White scaling skin |
OMIM:616265 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Ret... |
ORPHA:79397 |
| Lamellar Ichthyosis |
|
Pruritus, Lack of skin elasticity, Dehydration, Erythroderma, Hyperkeratosis, Abnormal helix morp... |
ORPHA:313 |
| Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthy... |
OMIM:242300 |
| Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Dry skin, Ichthyosis |
ORPHA:461 |
| Uv-Sensitive Syndrome 1 |
|
Freckling, Dry skin, Pigmentation anomalies of sun-exposed skin |
OMIM:600630 |
| Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, Palmoplantar hyperkeratosis... |
ORPHA:79501 |
| Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hypopigmented skin patches, Hyperpigmentation of the skin |
ORPHA:2819 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis... |
OMIM:148700 |
| Dowling-Degos Disease |
|
Inguinal freckling, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Pruritu... |
ORPHA:79145 |
| Lichen Planopilaris |
|
Pruritus, Hepatitis, Hypopigmented skin patches, Skin ulcer, Hyperkeratosis |
ORPHA:525 |
| Cutaneous Mastocytoma |
|
Maculopapular exanthema, Hypermelanotic macule, Pruritus, Thickened skin, Angioedema, Erythema, S... |
ORPHA:79455 |
| Uv-Sensitive Syndrome 3 |
|
Freckling, Dry skin |
OMIM:614640 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... |
OMIM:601952 |
| Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis |
OMIM:618546 |
| Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
| Acral Self-Healing Collodion Baby |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal... |
ORPHA:281127 |
| Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Acantholysis |
ORPHA:704 |
| Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural hearing impairm... |
OMIM:619947 |
| Immunodeficiency 51 |
|
Recurrent skin infections, Eczema, Pneumonia, Pustule, Recurrent cutaneous fungal infections, Chr... |
OMIM:613953 |
| Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Erythema, Palmoplantar hyperkerato... |
OMIM:257980 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
| Lymphatic Malformation 4 |
|
Hyperkeratosis, Pedal edema, Lymphedema |
OMIM:615907 |
| Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis, Osteomyelitis |
OMIM:615632 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
| Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses |
|
Mottled pigmentation |
OMIM:620199 |
| Familial Benign Chronic Pemphigus |
|
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis |
ORPHA:2841 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... |
ORPHA:2200 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
OMIM:615821 |
| Drug-Induced Localized Lipodystrophy |
|
Erythema, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90157 |
| Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke... |
ORPHA:79151 |
| Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Dry skin |
OMIM:106750 |
| Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections, Edema |
ORPHA:345 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Pruritus, Plantar hyperkeratosis |
OMIM:616487 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Hyperkeratosis |
ORPHA:89843 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Eosinophilia, Acantholysis, Pustule, Pruritus, Ulcerative ... |
ORPHA:555905 |
| Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Erythema, Hyperkeratosis, Ich... |
ORPHA:816 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
| Moynahan Syndrome |
|
Hyperkeratosis, Sensorineural hearing impairment |
ORPHA:2574 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Follicular hyperkeratosis |
OMIM:615147 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Recurrent otitis media, Hyperkeratosis, Cafe-au-lait spot |
OMIM:618625 |
| Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
| Pemphigus Erythematosus |
|
Malar rash, Hypopigmented skin patches, Acantholysis |
ORPHA:79480 |
| Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
| Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
| Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiati... |
OMIM:263200 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Macrotia, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform e... |
OMIM:613576 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:615735 |
| Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation |
|
Punctate palmoplantar hyperkeratosis, Discrete 2 to 5-mm hyper- and hypopigmented macules, Mottle... |
OMIM:131960 |
| Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
| Irida Syndrome |
|
Hyperkeratosis, Pallor, Ichthyosis |
ORPHA:209981 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Scaling skin, Palmoplantar hyperkeratosis |
OMIM:604536 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Keratitis, Facial erythema, Folliculitis, Palmoplantar keratoderma, Conjunctivitis, Follicular hy... |
OMIM:308800 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Cutis laxa, Abnormality of skin pigmentation, Hyperkeratosis, Low-set ears, Ichthyosis, D... |
OMIM:612379 |
| Amyloidosis, Primary Localized Cutaneous, 1 |
|
Pruritus, Dry skin, Scaling skin |
OMIM:105250 |
| Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Pustule, Erythema, Oli... |
OMIM:614204 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
| Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion |
OMIM:616298 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
| Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair, Spotty hy... |
OMIM:227010 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
| Dermatitis, Atopic |
|
Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Atopic dermatitis, Facial erythem... |
OMIM:603165 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Edema, Acantholysis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Palmoplantar keratod... |
OMIM:605676 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Short finger, Hyperpigmentation of the skin, Tapered finger |
OMIM:302000 |
| Keratoderma Hereditarium Mutilans |
|
Sensorineural hearing impairment, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyos... |
ORPHA:494 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Plantar hyperkeratosis, Epidermal hyperkeratosis, Palmoplantar keratoderma, Palmoplantar erythema... |
OMIM:104100 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm... |
OMIM:144200 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
| Harlequin Ichthyosis |
|
Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis, Erythroderma |
ORPHA:457 |
| Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
| Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175900 |
| Proteus Syndrome |
|
Hyperkeratosis, Epidermal acanthosis, Depigmentation/hyperpigmentation of skin |
OMIM:176920 |
| Kid Syndrome |
|
Angular cheilitis, Posterior blepharitis, Prelingual sensorineural hearing impairment, Recurrent ... |
ORPHA:477 |
| Aicardi-Goutieres Syndrome 5 |
|
Chilblains, Dry skin, Scaling skin |
OMIM:612952 |
| Chilblain Lupus 2 |
|
Chilblains |
OMIM:614415 |
| Meige Disease |
|
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... |
ORPHA:90186 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... |
OMIM:606545 |
| Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
| Tietz Albinism-Deafness Syndrome |
|
White eyelashes, White eyebrow, Congenital sensorineural hearing impairment, Blue irides, General... |
OMIM:103500 |
| Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Allergic rhinitis, Seborrheic... |
OMIM:618131 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia |
OMIM:614859 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis, Freckling, Melanocytic nevus |
ORPHA:1573 |
| Peeling Skin Syndrome 1 |
|
Pruritus, Eosinophilia, Scaling skin, Erythroderma |
OMIM:270300 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Diffuse palmoplantar hyperkeratosis, Hypopigmentation of the skin |
OMIM:617294 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries |
ORPHA:90301 |
| Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas |
ORPHA:79452 |
| Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
| Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
| Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Sensorineural hearing impairment, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:616029 |
| Hypertrichosis Lanuginosa Congenita |
|
Abnormality of skin pigmentation, Hearing impairment |
ORPHA:2222 |
| 46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
| Flynn-Aird Syndrome |
|
Progressive sensorineural hearing impairment, Hyperkeratosis |
OMIM:136300 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Epidermal acanthosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythrode... |
OMIM:308050 |
| Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Progressive hyperpigmentation, Epidermal acanthosis, Eczema, Allerg... |
ORPHA:330064 |
| Diffuse Cutaneous Mastocytosis |
|
Mixed hypo- and hyperpigmentation of the skin, Pruritus, Thickened skin, Scaling skin, Erythroder... |
ORPHA:79456 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Severe sensorineural hearing impairment, Numerous pigmented freckles, Patchy hypo- and hyperpigme... |
OMIM:601706 |
| Ichthyosis Bullosa Of Siemens |
|
Congenital bullous ichthyosiform erythroderma |
OMIM:146800 |
| Lipoid Proteinosis |
|
Pustule, Hyperkeratosis, Acne, Thickened skin |
ORPHA:530 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia |
OMIM:615993 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
| Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
| Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
| Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
| Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Hypopigmentation of the skin, Short dista... |
ORPHA:2513 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Hepatomegaly, Renal cyst |
OMIM:614870 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Palmoplantar ke... |
ORPHA:158668 |
| Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythro... |
OMIM:242100 |
| Kerion Celsi |
|
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... |
ORPHA:499 |
| Leopard Syndrome 3 |
|
Few cafe-au-lait spots, Posteriorly rotated ears, Epidermal hyperkeratosis, Sensorineural hearing... |
OMIM:613707 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Mixed hearing impairment, Congenital sensorineural hearing impairment, Palmoplantar hyperkeratosi... |
ORPHA:2698 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Epidermal acanthosis, Sensorineural hearing impairment, Xerostomia, Hyperkeratosis... |
OMIM:618527 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Noonan Syndrome 8 |
|
Eczema, Polyhydramnios, Hyperkeratosis, Low-set ears, Palmoplantar cutis laxa, Pleural effusion, ... |
OMIM:615355 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney dis... |
OMIM:613095 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Short thumb, Hypopigmented skin patches, Protruding e... |
ORPHA:2251 |
| Schopf-Schulz-Passarge Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma, Dry skin |
OMIM:224750 |
| Ramon Syndrome |
|
Conductive hearing impairment, Hyperkeratosis, Sensorineural hearing impairment, Abnormality of r... |
ORPHA:3019 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Pallor, Albinism |
ORPHA:2786 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
| Netherton Syndrome |
|
Hypernatremic dehydration, Parakeratosis, Recurrent skin infections, Eczema, Allergic rhinitis, A... |
OMIM:256500 |
| Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Hyperkeratosis |
OMIM:620014 |
| Chromomycosis |
|
Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Keratitis, Hyperparakeratosis, ... |
ORPHA:182 |
| Centrifugal Lipodystrophy |
|
Lymphadenitis, Inflammatory abnormality of the skin, Erythema, Scaling skin |
ORPHA:90156 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteomyelitis, Epidermal acanthosis, Skin rash, Pustule, Hyperkeratosis, Joint swelling, Stomatitis |
OMIM:612852 |
| Albinism-Deafness Syndrome |
|
Partial albinism, Sensorineural hearing impairment, Piebaldism, Hypopigmented skin patches, Irreg... |
ORPHA:998 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Epidermal acanthosis, Angular cheilitis, Follicular hyperkeratosis |
OMIM:613102 |
| Familial Keratoacanthoma |
|
Hyperkeratosis, Skin ulcer |
ORPHA:493 |
| Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma, Blepharitis |
OMIM:602400 |
| Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Eczema, Pruritus, Palmoplantar keratoderma, Dry skin, Blepharitis |
OMIM:618535 |
| Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Recurrent bacterial skin infections, Plantar hyperkeratosis, Angular cheilitis, Thickened skin, D... |
ORPHA:495 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
| Albinism-Deafness Syndrome |
|
Partial albinism, Albinism, Congenital sensorineural hearing impairment, Patchy hypo- and hyperpi... |
OMIM:300700 |
| Chronic Mucocutaneous Candidiasis |
|
Skin rash, Pruritus, Erythema, Hepatitis, Skin ulcer, Cheilitis, Hyperkeratosis |
ORPHA:1334 |
| Congenital Ichthyosiform Erythroderma |
|
Pruritus, Keratitis, Ichthyosis, Palmoplantar keratoderma, Erythroderma, Hearing impairment |
ORPHA:79394 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
|
Vitiligo |
OMIM:193200 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Sensorineural hearing impairment, Follicular hyperkeratosis |
ORPHA:300179 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Osteomyelitis, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis, Hearing impairment |
ORPHA:36386 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
| Hidrotic Ectodermal Dysplasia |
|
Hypopigmentation of hair, Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkera... |
ORPHA:189 |
| Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Pruritus, Erythema, Crusting erythematous dermatitis, Skin u... |
ORPHA:742 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Mpdu1-Cdg |
|
Eczema, Scaling skin, Ichthyosis |
ORPHA:79323 |
| Glucocorticoid Deficiency 5 |
|
Hyperpigmentation of the skin |
OMIM:617825 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Chronic rhinitis, Follicular hyper... |
OMIM:615225 |
| Spinocerebellar Ataxia 34 |
|
Erythroderma, Epidermal hyperkeratosis |
OMIM:133190 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Hyperkeratosis, Inflammatory abnormality of the skin, Dry skin, Ichthyosis |
OMIM:610768 |
| Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Nephropathy, Proximal tubulopathy, Multiple renal cysts |
ORPHA:3033 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Stillbirth, Enlarged kidney, Cystic renal dysplasia, Hepatic cysts |
OMIM:615415 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Eczema, Ichthyosis |
ORPHA:3055 |
| Xeroderma Pigmentosum Variant |
|
Hypopigmentation of the skin, Dry skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin |
ORPHA:90342 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Thickened skin, Ocular albinism, Hyperkeratosis, Freckling, H... |
ORPHA:79431 |
| Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Sensorineural hearing impairment, Pre... |
OMIM:193510 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Multiple cafe-au-lait spots, Hearing impairment, Follicular hyperkeratosis, Protruding ear |
ORPHA:1809 |
| Warty Dyskeratoma |
|
Acrokeratosis, Epidermal thickening, Acantholysis |
ORPHA:69745 |
| Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Pustule, Lymphadenitis, Myoca... |
ORPHA:31205 |
| Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo... |
OMIM:231680 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Lymphedema, Hyperkeratosis, Hearing impairment |
ORPHA:79279 |
| Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Epidermal acanthosis, Hypereosinophilia, Thyroiditis, Uveitis, Palmoplantar hyperkeratosis, Kerat... |
OMIM:617388 |
| Pili Torti-Onychodysplasia Syndrome |
|
Abnormal pinna morphology, Eczema, Generalized keratosis follicularis, Palmoplantar keratoderma, ... |
ORPHA:2890 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
| Femoral-Facial Syndrome |
|
Long penis, Abnormal localization of kidney, Polycystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:1988 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
| Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Eczema, Xerostomia, Hyperkeratosis, Keratoconjunctivitis sicca, Generalized hypopigmen... |
ORPHA:238468 |
| Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Edema, Recurrent pneumonia, Reticular hyperpigmentation, Hyper... |
OMIM:604173 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormal pinna morphology, Sensorineural hearing impairment, Erythroderma, Scaling skin, Low-set ... |
ORPHA:35173 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Hypopigmentation of the skin |
OMIM:610798 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Polycystic kidney dysplasia, Hepatosplenomegaly |
OMIM:608776 |
| Idiopathic Trachyonychia |
|
Circumungual hyperkeratosis, Atopic dermatitis, Vitiligo, Ichthyosis |
ORPHA:79153 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Skin ulcer, Protruding ear, Abnormality of skin pigmentation, Hyperkeratosis, Keratoconjunctiviti... |
ORPHA:1806 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Hyperkeratosis, Sensorineural hearing impairment |
ORPHA:1883 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:281090 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
| Graft Versus Host Disease |
|
Myositis, Inflammatory abnormality of the skin, Maculopapular exanthema, Fasciitis, Pneumonia, Ga... |
ORPHA:39812 |
| Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst |
OMIM:615982 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Hyperkeratosis, Dry skin |
ORPHA:1028 |
| Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ... |
OMIM:615726 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Pancreatic cysts, Splenomegaly, Stage 5 chronic... |
OMIM:208540 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Recurrent skin infections, Skin rash, Edema, Myositis, Pneumonia, Osteomyel... |
ORPHA:36234 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Unilateral deafness, Facial erythema, Palmoplantar keratoderma, Scaling skin, Dry skin, Sclerodac... |
ORPHA:1010 |
| Neonatal Lupus Erythematosus |
|
Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash |
ORPHA:398124 |
| Porphyria Cutanea Tarda, Type I |
|
Hyperpigmentation of the skin |
OMIM:176090 |
| Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis |
OMIM:181600 |
| Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Freckling, Short distal phalanx of finger, Brachytelomesophalangy |
ORPHA:1547 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
| Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Abnormality of skin pigmentation, Palmoplantar keratoderma |
ORPHA:79402 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
| Monilethrix |
|
Follicular hyperkeratosis |
ORPHA:573 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormality of skin pigmentation, Skin ulcer, Purpura |
ORPHA:743 |
| Quinquaud Folliculitis Decalvans |
|
Pustule, Erythema, Recurrent skin infections |
ORPHA:346 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Abnormality of skin pigmentation, Purpura |
ORPHA:745 |
| X-Linked Sideroblastic Anemia |
|
Pallor, Hyperpigmentation of the skin |
ORPHA:75563 |
| Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
| Sézary Syndrome |
|
Edema, Pruritus, Palmoplantar keratoderma, Erythroderma, Irregular hyperpigmentation, Dry skin |
ORPHA:3162 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Recurrent pneumonia, Bronchiectasis, Reticular hyperpigmentation, Generalized reticulate brown pi... |
OMIM:301220 |
| Monilethrix |
|
Perifollicular hyperkeratosis |
OMIM:158000 |
| Limited Cutaneous Systemic Sclerosis |
|
Abnormality of skin pigmentation, Joint contracture of the hand, Hypopigmented skin patches, Skin... |
ORPHA:220402 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Keratitis, Facial erythema, Folliculitis, Palmoplantar keratoderma, Conjunctivitis, Blepharitis |
OMIM:612843 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
| Hydroa Vacciniforme |
|
Superficial dermal perivascular inflammatory infiltrate, Eczema, Keratitis, Erythema, Malar rash,... |
ORPHA:330058 |
| Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Palmar pits, Epidermal acanthosis |
OMIM:618267 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Hepatomegaly, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, Erythroderma, Thyroiditis, Scaling skin, Chronic oral candidiasis |
OMIM:606367 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
| Autoimmune Disease, Susceptibility To, 1 |
|
Vitiligo |
OMIM:607836 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Dry skin, Follicular hyperkeratosis |
ORPHA:486815 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Psoriasiform lesion, Pneumonia, Erythema nodosum, Recurrent pneumonia, Bronch... |
OMIM:614700 |
| Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Skin ulcer, Arthritis |
ORPHA:231 |
| Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
| Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
| Elastoderma |
|
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa |
ORPHA:228240 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia |
OMIM:263210 |
| Erythema Nodosum, Familial |
|
Erythema nodosum, Erythema |
OMIM:132990 |
| Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin, Erythema |
ORPHA:90160 |
| Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... |
OMIM:113650 |
| Recon Progeroid Syndrome |
|
Attached earlobe, Arachnodactyly, Proximal placement of thumb, Microtia, Scaling skin, Long thumb... |
OMIM:620370 |
| Erosive Pustular Dermatosis Of The Scalp |
|
Pustule, Erythema |
ORPHA:222 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis |
OMIM:260910 |
| Costello Syndrome |
|
Low-set, posteriorly rotated ears, Generalized hyperpigmentation, Redundant skin, Polyhydramnios,... |
ORPHA:3071 |
| Phenylketonuria |
|
Eczema, Blue irides, Dry skin, Scleroderma, Fair hair, Generalized hypopigmentation |
OMIM:261600 |
| Immunodeficiency 104 |
|
Pneumonia, Eczema, Chronic mucocutaneous candidiasis, Otitis media, Recurrent otitis media |
OMIM:608971 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Epidermal acanthosis, Polyhydramnios, Pustule, Recurrent pneumonia, Dehydration |
OMIM:616069 |
| Pachyonychia Congenita 2 |
|
Subungual hyperkeratosis, Folliculitis, Angular cheilitis, Palmoplantar hyperkeratosis |
OMIM:167210 |
| Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis |
ORPHA:261290 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Erythema, Palmoplantar hyperkeratosis, Crusting erythematous dermatitis |
ORPHA:158673 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst |
OMIM:614091 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis |
OMIM:615279 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Long-chain dicarboxylic... |
OMIM:608836 |
| Lethal Acantholytic Erosive Disorder |
|
Abnormal pinna morphology, Oligohydramnios, Abnormal helix morphology, Acantholysis |
ORPHA:158687 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Acantholysis |
OMIM:609638 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,... |
ORPHA:157 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
| Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
| Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis |
ORPHA:2611 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... |
OMIM:308750 |
| Naxos Disease |
|
Subungual hyperkeratosis, Epidermal acanthosis, Acantholysis, Diffuse palmoplantar hyperkeratosis... |
OMIM:601214 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca... |
ORPHA:294023 |
| Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Viral hepatitis, Chronic hepatitis, Scaling skin, Hypopigmen... |
ORPHA:101330 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Keratitis, Sensorineural hearing impairment, Hyperkeratosis,... |
OMIM:148210 |
| Isolated Polycystic Liver Disease |
|
Hepatomegaly, Multiple renal cysts |
ORPHA:2924 |
| Distal Triplication 15Q |
|
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... |
ORPHA:314588 |
| Familial Melanoma |
|
Freckling, Dry skin |
ORPHA:618 |
| Trichothiodystrophy 1, Photosensitive |
|
Dry skin, Protruding ear, Hyperkeratosis, Keratoconjunctivitis sicca, Congenital nonbullous ichth... |
OMIM:601675 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... |
OMIM:300244 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Subungual hyperkeratosis, Perianal erythema, Eczema, Recurrent skin infe... |
OMIM:308205 |
| Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
| Hereditary Mucoepithelial Dysplasia |
|
Hyperkeratosis |
ORPHA:1839 |
| Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Pruritus, Recurrent pneumonia, At... |
OMIM:618282 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst |
OMIM:231060 |
| Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
| Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:28378 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Membranoproliferative glomerulonephritis, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema,... |
OMIM:137940 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... |
ORPHA:228308 |
| Mycetoma |
|
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Osteomyelitis |
ORPHA:2583 |
| Spastic Paraplegia 23, Autosomal Recessive |
|
Scapular winging, Premature graying of body hair, Multiple lentigines, Hyperpigmentation in sun-e... |
OMIM:270750 |
| Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Erythema, Septic arthritis |
ORPHA:36237 |
| Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Neonatal death, Stage 5 chronic kidney disease, Renal cyst |
OMIM:613390 |
| Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Pustule, Enthesitis, Hyperkeratosis, Inflammation of the large intes... |
ORPHA:29207 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis, Low-set ears |
ORPHA:163966 |
| Deafness, Congenital, With Vitiligo And Achalasia |
|
Vitiligo, Hearing impairment |
OMIM:221350 |
| Pachyonychia Congenita |
|
Angular cheilitis, Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar kerato... |
ORPHA:2309 |
| Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
| Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Hyperkeratosis, Abnormal antihelix morphology, Abnormal helix ... |
ORPHA:1005 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Absence Of Fingerprints-Congenital Milia Syndrome |
|
Thickened skin, Skin rash |
ORPHA:1658 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Abnormality of retinal pigmentation, Edema, Lymphedema, Thickened skin, Skin ulcer, Protruding ea... |
ORPHA:2526 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Pruritus, Gastrointestinal inflammation, Palmoplantar keratoderma, Skin vesicle, Hyperkeratotic p... |
ORPHA:79410 |
| Chilblain Lupus 1 |
|
Chilblains, Skin ulcer |
OMIM:610448 |
| Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Pruritus, Iridocycliti... |
ORPHA:85436 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria... |
ORPHA:26791 |
| Glucocorticoid Deficiency 2 |
|
Hyperpigmentation of the skin |
OMIM:607398 |
| Polysyndactyly With Cardiac Malformation |
|
Stillbirth, Hepatic cysts, Renal cyst |
OMIM:263630 |
| Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
| Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Progressive hearing impairment, Skin rash, Bilateral sensorineural hearing impairment |
OMIM:124950 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Erythema |
ORPHA:90159 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ... |
OMIM:617303 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
| Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent skin infections, Severe periodontitis, Pustule, ... |
ORPHA:678 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Posteriorly rotated ears, Single transverse palmar crease, Bifid distal phalanx of the thumb, Sen... |
OMIM:618419 |
| Keratolytic Winter Erythema |
|
Pustule, Erythema |
ORPHA:50943 |
| 46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
| Donohue Syndrome |
|
Hypermelanotic macule, Hyperkeratosis, Low-set ears, Acanthosis nigricans, Macrotia |
OMIM:246200 |
| Nephronophthisis 1 |
|
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria... |
OMIM:256100 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Aminoaciduria, Polycystic kidney dysplasia |
OMIM:214110 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... |
OMIM:243910 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Peau d'orange, Hyperkeratosis, Inflammation of the large intestine, Dry skin |
OMIM:614576 |
| Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia |
OMIM:236500 |
| Netherton Syndrome |
|
Skin rash, Eczema, Erythroderma, Dehydration, Congenital nonbullous ichthyosiform erythroderma, I... |
ORPHA:634 |
| Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
| Gaucher Disease, Perinatal Lethal |
|
Nonimmune hydrops fetalis, Polyhydramnios, Hyperkeratosis, Microtia, Congenital nonbullous ichthy... |
OMIM:608013 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Psoriasiform lesion, Eosinophilia, Erythroderma |
ORPHA:169154 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
| Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Short distal phalanx of toe, Hypopigmentation of the skin, Brachydactyly, Single transverse palma... |
OMIM:601957 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomeru... |
OMIM:232200 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Polycystic kidney dysplasia, Ves... |
ORPHA:2237 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Skin rash, Eosinophilia, Erythema, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Eczema... |
OMIM:147060 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Profuse pigmented skin lesions |
ORPHA:280785 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Flexion contracture of finger, Swelling of proximal interphalangeal joi... |
ORPHA:69087 |
| Sialidosis Type 1 |
|
Hyperkeratosis, Sensorineural hearing impairment |
ORPHA:812 |
| Cutaneous Small Vessel Vasculitis |
|
Recurrent skin infections, Erythema, Skin rash, Purpura |
ORPHA:889 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Dec... |
OMIM:232220 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbir... |
OMIM:614922 |
| Van Den Bosch Syndrome |
|
Recurrent skin infections, Acrokeratosis |
ORPHA:3417 |
| Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Erythema, Cheilitis, Abnormality of skin pigmentation, Hyperkeratosis,... |
ORPHA:2908 |
| Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
| Lymphatic Malformation 3 |
|
Recurrent skin infections, Lymphedema |
OMIM:613480 |
| Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
| Mycosis Fungoides |
|
Pruritus, Erythema, Eczema, Psoriasiform dermatitis |
OMIM:254400 |
| Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
| Incontinentia Pigmenti |
|
Maculopapular exanthema, Eosinophilia, Keratitis, Erythema, Uveitis, Abnormality of skin pigmenta... |
OMIM:308300 |
| Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Glomerulonephritis, Lymphedema, Orchitis, Lymphadenitis, Kne... |
ORPHA:2035 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l... |
OMIM:300635 |
| Vogt-Koyanagi-Harada Disease |
|
Poliosis, Sensorineural hearing impairment, Hypopigmented skin patches, Premature graying of hair... |
ORPHA:3437 |
| Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia |
OMIM:606232 |
| C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Bronchiectasis, Facial erythema, Arthritis, Recurrent otitis medi... |
OMIM:620321 |
| Familial Cutaneous Collagenoma |
|
Abnormality of skin pigmentation |
ORPHA:53296 |
| Reynolds Syndrome |
|
Skin rash, Pruritus, Xerostomia, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Irregular hyp... |
ORPHA:779 |
| Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Generalized hyperpigmentation, Redundant skin, Lymphedema, Mac... |
ORPHA:1340 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney |
ORPHA:464329 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Pancreatic cysts, Splenomegaly, Renal cyst, Polycystic kidney dysplasia |
OMIM:610199 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Lymphedema, Hyperkeratosis, Tinnitus, Hearing impairment |
ORPHA:79280 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Recurrent otitis media, Recurrent skin infections, Atopic dermatitis, Cutaneous abscess |
OMIM:618944 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Pruritus, Inflammatory abnormality of the skin, Erythema, Rheumatoid arthritis |
ORPHA:79099 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:251270 |
| Restrictive Dermopathy |
|
Polyhydramnios, Epidermal hyperkeratosis, Scaling skin, Low-set ears, Generalized hyperkeratosis,... |
ORPHA:1662 |
| Incontinentia Pigmenti |
|
Skin rash, Eosinophilia, Keratitis, Erythema, Hypopigmented skin patches, Skin ulcer, Uveitis, Ab... |
ORPHA:464 |
| Kanzaki Disease |
|
Lymphedema, Sensorineural hearing impairment, Hyperkeratosis, Dry skin, Petechiae |
OMIM:609242 |
| Noonan Syndrome 10 |
|
Increased nuchal translucency, Hyperkeratosis, Low-set ears, Palmoplantar cutis laxa, Pleural eff... |
OMIM:616564 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Hepatosplenomegaly, Polycystic kidney dyspla... |
OMIM:614866 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Posteriorly rotated ears, Eczema, Polyhydramnios, Hyperkeratosis, Multiple lentigines, Low-set ea... |
OMIM:607721 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... |
OMIM:158310 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia |
ORPHA:1166 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Abnormality of skin pigmentation |
OMIM:225050 |
| Noonan Syndrome 2 |
|
Posteriorly rotated ears, Polyhydramnios, Increased nuchal translucency, Hyperkeratosis, Low-set ... |
OMIM:605275 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Pyoderma gangrenosum, Sterile arthritis, Arthritis, Colitis, Cystic acne |
OMIM:604416 |
| Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
| Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis, Posteriorly rotated ears |
OMIM:620189 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Abnormality of skin pigmentation, Palmoplantar keratoderma, Mitten deformity |
ORPHA:79411 |
| Restrictive Dermopathy 1 |
|
Polyhydramnios, Epidermal hyperkeratosis, Scaling skin, Low-set ears, Oligohydramnios |
OMIM:275210 |
| Free Sialic Acid Storage Disease |
|
Abnormality of skin pigmentation, Abnormality of the upper limb, Skin ulcer, Iris hypopigmentation |
ORPHA:834 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Arthritis, Crohn's disease |
ORPHA:69126 |
| Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
| Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
| Immunodeficiency 66 |
|
Pustule, Recurrent skin infections |
OMIM:618847 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Lack of skin elasticity, Abnormality of skin pigmentation, Premature graying of hair, Palmoplanta... |
ORPHA:1979 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Arthritis, Eczemato... |
OMIM:259100 |
| Joubert Syndrome 18 |
|
Renal cyst, Horseshoe kidney |
OMIM:614815 |
| Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
| Large Congenital Melanocytic Nevus |
|
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches |
ORPHA:626 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
| Reticular Dysgenesis |
|
Skin rash, Dehydration, Skin ulcer, Chronic otitis media, Hearing impairment |
ORPHA:33355 |
| Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... |
OMIM:276700 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Abnormality of skin pigmentation, Hearing impairment |
ORPHA:457260 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of skin pigmentation |
ORPHA:1810 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Follicular hyperkeratosis, Protruding ear |
OMIM:254090 |
| Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
| Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:618161 |
| Grubben-De Cock-Borghgraef Syndrome |
|
Dry skin, Eczema |
ORPHA:2101 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly |
OMIM:610644 |
| Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
| Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Reti... |
ORPHA:50815 |
| Protoporphyria, Erythropoietic, 1 |
|
Pruritus, Erythema, Eczema, Edema |
OMIM:177000 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Skin ulcer, Arthritis, Ot... |
ORPHA:229717 |
| 15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Splenomegaly, Stage 5 ... |
ORPHA:731 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
| Hyperparathyroidism, Transient Neonatal |
|
Ovarian cyst, Enlarged kidney, Unilateral renal agenesis |
OMIM:618188 |
| Cardiofaciocutaneous Syndrome 1 |
|
Posteriorly rotated ears, Polyhydramnios, Atopic dermatitis, Anterior creases of earlobe, Hyperke... |
OMIM:115150 |
| Cutaneous Collagenous Vasculopathy |
|
Pruritus, Erythema, Skin rash, Petechiae |
ORPHA:280779 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney |
ORPHA:276280 |
| Xeroderma Pigmentosum |
|
Hypermelanotic macule, Keratitis, Thickened skin, Sensorineural hearing impairment, Erythema, Hyp... |
ORPHA:910 |
| Bone Marrow Failure Syndrome 3 |
|
Eczema, Cupped ear, Hyperkeratosis, Hypomelanotic macule, Hearing impairment |
OMIM:617052 |
| Werner Syndrome |
|
Abnormality of retinal pigmentation, Lack of skin elasticity, Skin ulcer, Premature graying of ha... |
ORPHA:902 |
| Riddle Syndrome |
|
Pneumonia, Erythema, Recurrent pneumonia, Arthritis, Scaling skin, Otitis media, Recurrent sinusi... |
ORPHA:420741 |
| Autosomal Erythropoietic Protoporphyria |
|
Pruritus, Erythema, Eczema, Edema |
ORPHA:79278 |
| Hatipoglu Immunodeficiency Syndrome |
|
Fair hair, Eczema, Hyperpigmented/hypopigmented macules, Thickened skin, Atopic dermatitis, Prema... |
OMIM:620331 |
| Ige Responsiveness, Atopic |
|
Allergic rhinitis, Eczema |
OMIM:147050 |
| Meckel Syndrome 14 |
|
Polycystic kidney dysplasia |
OMIM:619879 |
| Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
| Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection... |
ORPHA:2970 |
| Dermatitis Herpetiformis |
|
Eczema, Edema, Pruritus, Erythema, Skin vesicle |
ORPHA:1656 |
| Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
| H Syndrome |
|
Micropenis, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly |
ORPHA:168569 |
| Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Partial albinism, Thickened skin, Ocular albinism, Melanocytic nevus, H... |
ORPHA:79430 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Hyperkeratosis, Dry skin |
OMIM:601701 |
| Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Erythema, Skin ulcer |
ORPHA:542592 |
| Caroli Disease |
|
Splenomegaly, Hepatomegaly, Polycystic kidney dysplasia |
ORPHA:53035 |
| Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
| Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Pyoderma gangrenosum, Bronchi... |
OMIM:616576 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
| Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
| Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
| Autosomal Agammaglobulinemia |
|
Sinusitis, Skin rash, Recurrent skin infections, Osteomyelitis, External ear malformation, Bronch... |
ORPHA:33110 |
| Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Abnormality of skin pigmentation |
OMIM:613988 |
| Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Urinary bladder inflammation, Renal interstitial immunoglobulin... |
ORPHA:449395 |
| Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... |
OMIM:613159 |
| Meacham Syndrome |
|
Neonatal death, Enlarged kidney, Stillbirth, Horseshoe kidney |
OMIM:608978 |
| Subcorneal Pustular Dermatosis |
|
Pruritus, Pustule, Erythema, Rheumatoid arthritis, Hyperpigmentation of the skin |
ORPHA:48377 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr... |
ORPHA:505248 |
| Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Hyperpigmentation of the skin |
OMIM:613743 |
| Epidermodysplasia Verruciformis |
|
Recurrent skin infections, Seborrheic dermatitis, Pustule, Hypopigmented skin patches, Multiple c... |
ORPHA:302 |
| Hypoadrenocorticism, Familial |
|
Abnormality of skin pigmentation |
OMIM:240200 |
| Fucosidosis |
|
Generalized hyperkeratosis, Hearing impairment |
ORPHA:349 |
| Erythema Elevatum Diutinum |
|
Skin vesicle, Skin rash |
ORPHA:90000 |
| Ramon Syndrome |
|
Hyperkeratosis, Juvenile rheumatoid arthritis, Pigmentary retinopathy, Hearing impairment |
OMIM:266270 |
| Bone Marrow Failure Syndrome 4 |
|
Dry skin, Eczema, Low-set ears |
OMIM:618116 |
| Toxic Epidermal Necrolysis |
|
Acantholysis, Erythema, Skin ulcer, Conjunctivitis, Pancreatitis |
ORPHA:537 |
| Bethlem Myopathy |
|
Hyperkeratosis |
ORPHA:610 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
| Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia |
OMIM:200980 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Osteomyelitis, Sensorineural hearing... |
ORPHA:47 |
| Cranio-Osteoarthropathy |
|
Eczema, Osteoarthritis, Joint swelling, Arthritis, Mottled pigmentation |
ORPHA:1525 |
| Meckel Syndrome, Type 5 |
|
Renal cyst |
OMIM:611561 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Micropenis, Polycystic kidney dysplasia |
OMIM:616546 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Hyperkeratosis with erythema |
OMIM:118650 |
| Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
| Syndromic Diarrhea |
|
Splenomegaly, Hepatomegaly, Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:84064 |
| Distal Deletion 12Q |
|
Ectopic kidney, Congenital hypertrophy of left ventricle, Polycystic kidney dysplasia, Vesicouret... |
ORPHA:96149 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Erythema nodosum, Sensorineural hearing impairment, Arthritis, Recurrent aphthous stom... |
OMIM:611762 |
| Coach Syndrome 1 |
|
Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts, Stag... |
OMIM:216360 |
| Pachydermoperiostosis |
|
Osteomyelitis, Acne, Edema, Seborrheic dermatitis, Thickened skin, Joint swelling, Arthritis, Pal... |
ORPHA:2796 |
| Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Hepatic cysts, Abnormal renal arter... |
ORPHA:79328 |
| Orofaciodigital Syndrome I |
|
Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:311200 |
| Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... |
OMIM:137920 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Polycystic ovaries, N... |
ORPHA:79259 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Long toe, Arachnodactyly, Palmoplantar cutis gyrata, Cutis laxa, Abnormality of skin pigmentation |
ORPHA:75496 |
| Stevens-Johnson Syndrome |
|
Erythema, Conjunctivitis, Pancreatitis, Acantholysis |
ORPHA:36426 |
| Wolfram Syndrome 1 |
|
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Hypothyroidism, Hydroneph... |
OMIM:222300 |
| Eec Syndrome |
|
External ear malformation, Keratitis, Sensorineural hearing impairment, Xerostomia, Inflammatory ... |
ORPHA:1896 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Fixed Drug Eruption |
|
Stomatitis, Erythema, Hyperpigmentation of the skin, Crusting erythematous dermatitis |
ORPHA:293812 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Perianal erythema, Pustule, Perioral erythema, Erythroderma, Blepharitis |
OMIM:614328 |
| Verheij Syndrome |
|
Renal agenesis, Renal hypoplasia, Renal cyst |
OMIM:615583 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst |
OMIM:614862 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis, Hearing impairment |
OMIM:615510 |
| Hereditary Acrokeratotic Poikiloderma |
|
Eczema, Pustule, Erythema, Xerostomia, Hypopigmented skin patches, Skin ulcer, Palmoplantar hyper... |
ORPHA:2907 |
| Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Uveitis, Arthritis, Conjunctivitis, Recurrent aphthous stomatitis, Ichth... |
ORPHA:575 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Eosinophilia, Pustule, Myocarditis, Angioedema, Erythema, Hepatitis, Thyroiditis, Tubu... |
ORPHA:139402 |
| Hajdu-Cheney Syndrome |
|
Hypospadias, Polycystic kidney dysplasia, Renal cyst |
OMIM:102500 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Skin rash, Edema, Osteomyelitis, Pruritus, Arthritis, Palmoplantar... |
ORPHA:324964 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney |
ORPHA:500095 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Few cafe-au-lait spots, Fetal ascites, Macrotia, Erythema, Atopic dermatitis, Facial erythema, Cu... |
OMIM:619503 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Thickened skin, Acne, Seborrheic dermatitis |
OMIM:614441 |
| Bazex-Dupre-Christol Syndrome |
|
Atopic dermatitis, Acne inversa, Eczema, Hyperpigmentation of the skin |
OMIM:301845 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormality of skin pigmentation, Sandal gap, Low-set ears, Brachydactyly |
ORPHA:2180 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia |
OMIM:263520 |
| Meckel Syndrome, Type 10 |
|
Micropenis, Hypospadias, Renal cyst |
OMIM:614175 |
| Bullous Pemphigoid |
|
Erythema, Eczema, Psoriasiform dermatitis |
ORPHA:703 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia |
OMIM:607361 |
| Majeed Syndrome |
|
Joint swelling, Inflammatory abnormality of the skin, Osteomyelitis, Skin rash |
OMIM:609628 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney |
OMIM:252500 |
| Cinca Syndrome |
|
Skin rash, Eosinophilia, Lymphedema, Uveitis, Arthritis, Progressive sensorineural hearing impair... |
OMIM:607115 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Recurrent pneumonia, Atopic der... |
OMIM:243700 |
| Bardet-Biedl Syndrome 17 |
|
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:615994 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Acantholysis, Kerat... |
ORPHA:95455 |
| Warburg-Cinotti Syndrome |
|
Hypoplasia of the ear cartilage, Posteriorly rotated ears, Erythema, Joint swelling, Atresia of t... |
OMIM:618175 |
| Caroli Syndrome |
|
Hepatomegaly, Abnormality of the kidney, Polycystic kidney dysplasia |
ORPHA:480520 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent otitis media, Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia |
ORPHA:277 |
| De Sanctis-Cacchione Syndrome |
|
Parakeratosis, Hypermelanotic macule, Keratitis, Sensorineural hearing impairment, Conjunctivitis |
OMIM:278800 |
| Pyoderma Gangrenosum |
|
Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Rheumatoid arthritis, Skin ve... |
ORPHA:48104 |
| Neurofibromatosis, Familial Spinal |
|
Freckling, Cafe-au-lait spot |
OMIM:162210 |
| B4Galt1-Cdg |
|
Inflammatory abnormality of the skin, Redundant neck skin, Low-set ears, Edema |
ORPHA:79332 |
| Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... |
ORPHA:2044 |
| Premature Aging Syndrome, Penttinen Type |
|
Thickened skin, Sensorineural hearing impairment, Palmoplantar hyperkeratosis, Corneal stromal ed... |
OMIM:601812 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
| Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Pericardial effusion, Pruritus, Angioedema, Sensorineural hearing impair... |
ORPHA:36412 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ... |
ORPHA:116 |
| Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, Splenomegaly, Abnormality of the ureter, Polycystic ki... |
OMIM:249000 |
| Parkes Weber Syndrome |
|
Abnormal femoral metaphysis morphology, Skin ulcer, Hypertrophy of the upper limb, Abnormality of... |
ORPHA:90307 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Proximal tubulopathy, Renal cyst |
OMIM:602579 |
| Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Arthritis, Keratoconju... |
OMIM:617321 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney, Cardiomegaly |
OMIM:300855 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal epidermal morphology |
ORPHA:398189 |
| 22Q11.2 Deletion Syndrome |
|
Hypospadias, Splenomegaly, Renal hypoplasia, Multiple renal cysts, Polycystic kidney dysplasia, V... |
ORPHA:567 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Epidermal acanthosis, Ecz... |
ORPHA:83617 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Juvenile rheuma... |
ORPHA:275 |
| Chime Syndrome |
|
Erythema, Skin ulcer, Hyperkeratosis, Ichthyosis, Hearing impairment |
ORPHA:3474 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Cardiomegaly |
OMIM:261740 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
| Waardenburg Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Abnormality of skin pigmentation, Premature... |
ORPHA:3440 |
| Gjc2-Related Late-Onset Primary Lymphedema |
|
Genital edema, Predominantly lower limb lymphedema, Recurrent skin infections, Edema of the dorsu... |
ORPHA:568051 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent skin infections, Erythema, Depigmentation/hyperpigmentation of skin, Generalized reticu... |
ORPHA:79396 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chronic mucocutaneous candidiasis... |
OMIM:614868 |
| Gastrointestinal Stromal Tumor |
|
Large hands, Hyperpigmentation of the skin |
OMIM:606764 |
| Cronkhite-Canada Syndrome |
|
Abnormality of skin pigmentation, Generalized hyperpigmentation, Tapered finger |
ORPHA:2930 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
High-frequency sensorineural hearing impairment, Mixed hearing impairment, Polyhydramnios, Cutis ... |
OMIM:614557 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
| Roberts Syndrome |
|
Long penis, Polycystic kidney dysplasia |
ORPHA:3103 |
| Hennekam-Beemer Syndrome |
|
Generalized hyperpigmentation, Camptodactyly of finger, Erythema, Abnormality of skin pigmentatio... |
ORPHA:2135 |
| Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
| Vexas Syndrome |
|
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... |
OMIM:301054 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Skin rash, Eczema, Eosinophilia, Pruritus, Skin ulcer, Skin vesicle, Chronic otiti... |
ORPHA:2314 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Renal hypoplasia, Renal cyst, Stillbirth, Polycystic kidney dysplasia, Micropenis |
OMIM:210710 |
| Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney |
ORPHA:508 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Meckel Syndrome, Type 2 |
|
Renal cyst |
OMIM:603194 |
| Adult-Onset Still Disease |
|
Pericarditis, Skin rash, Pruritus, Myocarditis, Erythema, Hepatitis, Joint swelling, Arthritis |
ORPHA:829 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Thickened skin, Acne, Seborrheic dermatitis |
OMIM:167100 |
| Immunodeficiency 55 |
|
Dry skin, Recurrent skin infections, Eczema, Ichthyosis |
OMIM:617827 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst |
ORPHA:445038 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney, Enlarged kidney |
OMIM:306955 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Myositis, Maculopapular exanthema, Skin rash, Periorbital edema, Oligoarthritis, Conjunctivitis, ... |
OMIM:142680 |
| Antisynthetase Syndrome |
|
Myositis, Skin rash, Edema, Pruritus, Myocarditis, Xerostomia, Lack of skin elasticity, Keratocon... |
ORPHA:81 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
| Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Enlarged kidney, Enuresis nocturna |
OMIM:615873 |
| Immunodeficiency 57 With Autoinflammation |
|
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Inflammation of the large intestine |
OMIM:618108 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Edema, Pustule, Synovitis, Abnormal in... |
ORPHA:77297 |
| Femoral-Facial Syndrome |
|
Micropenis, Abnormal renal collecting system morphology, Renal agenesis, Polycystic kidney dysplasia |
OMIM:134780 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Hepatomegaly, Multicystic kidney dysplasia, Multiple renal cysts |
ORPHA:1318 |
| Leprosy |
|
Penetrating foot ulcers, Uveitis, Hyperkeratosis, Acral ulceration, Iritis |
ORPHA:548 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Joint swelling, Pleural effusion, Juvenile rheumatoid ... |
ORPHA:85414 |
| Meckel Syndrome, Type 6 |
|
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney |
OMIM:612284 |
| Rothmund-Thomson Syndrome |
|
Plantar hyperkeratosis, Porokeratosis, Skin rash, Facial edema, Reticular hyperpigmentation, Palm... |
ORPHA:2909 |
| American Trypanosomiasis |
|
Skin rash, Edema, Periorbital edema, Myocarditis, Pallor, Infectious encephalitis |
ORPHA:3386 |
| 17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Perianal abscess, Folliculitis, Enterocolitis, Pancolitis |
OMIM:612567 |
| Mixed Connective Tissue Disease |
|
Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Xerostomia, Joint swelling, Keratoconj... |
ORPHA:809 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Eczema, Keratitis, Erythema, Cheilitis, Uveitis, Scleritis, Hyperkeratosis, Conjunc... |
ORPHA:2273 |
| Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Stage 5 chronic kidney... |
OMIM:267010 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
| Uremic Pruritus |
|
Pruritus, Inflammatory abnormality of the skin, Dry skin, Recurrent skin infections |
ORPHA:94059 |
| Cholestasis-Lymphedema Syndrome |
|
Abnormality of skin pigmentation |
ORPHA:1414 |
| Bardet-Biedl Syndrome |
|
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia |
ORPHA:110 |
| Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Skin rash, Edema, Recurrent skin infections, Pustule, Osteomyeliti... |
ORPHA:793 |
| Trisomy 13 |
|
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis |
ORPHA:3378 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Hepatomegaly, Renal cyst |
ORPHA:79303 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Abnormality of skin pigmentation |
OMIM:616353 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... |
ORPHA:183675 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Atopic dermatitis, Bronchiectasis... |
ORPHA:436159 |
| Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, E... |
ORPHA:727 |
| Lesch-Nyhan Syndrome |
|
Nephrocalcinosis, Testicular atrophy, Nephrolithiasis, Hyperuricosuria |
OMIM:300322 |
| Chikungunya |
|
Maculopapular exanthema, Skin rash, Facial edema, Pruritus, Erythema nodosum, Erythema, Crusting ... |
ORPHA:324625 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Fair hair, Eczema, Protruding ear, Hyperkeratosis, Cafe-au-lait spot, Ichthyosis, Recurrent otiti... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Fair hair, Eczema, Protruding ear, Hyperkeratosis, Cafe-au-lait spot, Ichthyosis, Recurrent otiti... |
ORPHA:363958 |
| Meckel Syndrome, Type 4 |
|
Renal cyst |
OMIM:611134 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Periorbital edema, Arthritis, Panniculitis, Conjunctivitis, Acant... |
OMIM:617591 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
| Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Absent thumb, Absent radius, Short thumb, Abnormality of skin pigmentation, Comple... |
OMIM:227650 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
| Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst, Hepatomegaly |
OMIM:601539 |
| Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
| Melkersson-Rosenthal Syndrome |
|
Periorbital edema, Inflammatory abnormality of the skin, Cheilitis, Edema |
ORPHA:2483 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia |
OMIM:619980 |
| Immunodeficiency 81 |
|
Recurrent cutaneous abscess formation, Skin rash, Petechiae |
OMIM:619374 |
| Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Pyoderma gangrenosum, Olig... |
ORPHA:3243 |
| Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
| Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts |
ORPHA:2869 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Eosinophilia, Lymphadenitis, Chronic m... |
ORPHA:911 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Recurrent skin infections, Eczema,... |
ORPHA:37042 |
| Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Skin ulcer, Uveitis, Synovitis,... |
OMIM:186580 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia |
OMIM:618829 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Renal cyst, Hepatomegaly |
ORPHA:488618 |
| Cystic Echinococcosis |
|
Hepatomegaly, Renal cyst, Membranous nephropathy, Ovarian cyst, Hepatic cysts |
ORPHA:400 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia |
OMIM:220500 |
| Pgm3-Cdg |
|
Mild neurosensory hearing impairment, Membranoproliferative glomerulonephritis, Recurrent skin in... |
ORPHA:443811 |
| Fabry Disease |
|
Lymphedema, Sensorineural hearing impairment, Hyperkeratosis, Arthritis, Hearing impairment |
ORPHA:324 |
| Woodhouse-Sakati Syndrome |
|
Scaling skin, Bilateral sensorineural hearing impairment, Protruding ear |
ORPHA:3464 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Renal cyst, Horseshoe kidney |
ORPHA:166035 |
| Systemic Sclerosis |
|
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Pruritus, Thickened s... |
ORPHA:90291 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... |
ORPHA:465508 |
| Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... |
OMIM:146510 |
| Blau Syndrome |
|
Pericarditis, Skin rash, Erythema nodosum, Retrobulbar optic neuritis, Keratitis, Erythema, Xeros... |
ORPHA:90340 |
| Chronic Granulomatous Disease |
|
Sinusitis, Eczema, Hypermelanotic macule, Skin ulcer, Otitis media, Inflammatory abnormality of t... |
ORPHA:379 |
| Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
| Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Vesicoureteral reflux, Micrope... |
ORPHA:261494 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Blue irides, Xerostomia, Hyperkeratosis, Microtia, Generalized hypopigmentation, Fair hair, Bleph... |
OMIM:604292 |
| Mody |
|
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria |
ORPHA:552 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Thickened skin, Abnormality of dermal melanosomes, Depigmentation/hyperpigmentation of skin, Epid... |
ORPHA:73223 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Palmoplantar cutis laxa, Excessive wrinkled skin, Recurrent pneumonia, Follicular hyperkeratosis |
OMIM:225400 |
| Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
| Estrogen Resistance |
|
Acanthosis nigricans, Acne |
OMIM:615363 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:3404 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
| Trisomy 1Q |
|
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis |
ORPHA:261344 |
| 6Q Terminal Deletion Syndrome |
|
Low-set, posteriorly rotated ears, Hyperkeratosis |
ORPHA:75857 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Blue irides, Xerostomia, Hyperkeratosis, Microtia, Conductive hearing impairment, Generalized hyp... |
OMIM:129900 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Skin rash, Hypermelanotic macule, Pericarditis, Periorbital edema, Orchitis,... |
ORPHA:32960 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Nephroblastoma,... |
OMIM:312870 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:3015 |
| Joubert Syndrome 14 |
|
Renal cyst |
OMIM:614424 |
| Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Micropenis, Penoscrotal hypospadias, Patent urachus |
OMIM:618280 |
| Cohen Syndrome |
|
Abnormality of retinal pigmentation, Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finge... |
ORPHA:193 |
| Immunoglobulin A Vasculitis |
|
Episcleritis, Skin rash, Edema, Pustule, Orchitis, Angioedema, Erythema, Skin ulcer, Arthritis, I... |
ORPHA:761 |
| Cowden Syndrome |
|
Hypopigmented skin patches, Melanocytic nevus, Palmoplantar keratoderma, Multiple cafe-au-lait sp... |
ORPHA:201 |
| Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
| Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:912 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Renal cyst, Micropenis |
OMIM:257300 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias |
ORPHA:2075 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Renal cyst, Horseshoe kidney |
OMIM:250410 |
| Mosaic Trisomy 1 |
|
Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst |
ORPHA:1692 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu... |
ORPHA:79404 |
| Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation... |
ORPHA:556 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... |
ORPHA:2473 |
| Joubert Syndrome 2 |
|
Renal insufficiency, Renal cyst, Nephronophthisis |
OMIM:608091 |
| Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... |
ORPHA:261318 |
| Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst |
OMIM:193300 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy |
OMIM:212065 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis |
OMIM:618460 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:99880 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Nephritis |
OMIM:208500 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
| Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Long penis, Horseshoe kidney, Stillbirth, Polycystic kidney dysplasia |
OMIM:268300 |
| Ablepharon Macrostomia Syndrome |
|
Toe syndactyly, Redundant skin, Camptodactyly of finger, Abnormality of skin pigmentation, Excess... |
ORPHA:920 |
| 3Q29 Microdeletion Syndrome |
|
Tapered finger, Abnormality of skin pigmentation, Low-set ears, Clinodactyly of the 5th finger, M... |
ORPHA:65286 |
| Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Absent thumb, Absent radius, Short thumb, Preaxial hand polydactyly, Partial dupli... |
OMIM:227646 |
| Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Erythema, Epididymitis, Arthritis, Iritis |
OMIM:109650 |
| Dubowitz Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Brachydactyly, Toe syndactyly... |
ORPHA:235 |
| Zinc Deficiency, Transient Neonatal |
|
Eczema |
OMIM:608118 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:143 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Stillbirth, Renal hypoplasia, Renal cyst |
OMIM:616300 |
| Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal... |
OMIM:122470 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis |
OMIM:618454 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau... |
ORPHA:369837 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Eczema, Cholangitis, Eosinophilia, Pruritus, Angioedema, Ch... |
ORPHA:3260 |
| 2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Nephroblastoma |
ORPHA:1001 |
| Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Patchy hypo- and hyperpigmentation, Lack of skin elasticity,... |
ORPHA:79474 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal dysplasia, Renal cyst |
OMIM:617260 |
| Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
| Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Nephropathy |
ORPHA:1454 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Renal dysplasia |
ORPHA:99776 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Sensorineural hearing impairment, Low-set ears, Follicular hyperkeratosis, Conductive hearing imp... |
ORPHA:536545 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis |
ORPHA:464311 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Renal cyst |
OMIM:617478 |
| Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
| Joubert Syndrome 1 |
|
Nephropathy, Renal cyst |
OMIM:213300 |
| Familial Tumoral Calcinosis |
|
Erythema, Skin rash, Hypopigmented skin patches |
ORPHA:53715 |
| Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia |
OMIM:617107 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Hepatomegaly, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst,... |
OMIM:266920 |
| Tuberous Sclerosis 1 |
|
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst |
OMIM:191100 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Eosinophilia, Recurrent pn... |
OMIM:102700 |
| Tuberous Sclerosis 2 |
|
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe... |
OMIM:613254 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:85201 |
| Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Orchitis, Osteoarthritis, Erythema, Peritonitis, Pedal edema, Arthritis,... |
ORPHA:342 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:261197 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis |
ORPHA:464306 |
| Alveolar Echinococcosis |
|
Pancreatic cysts, Abnormal bladder morphology, Hepatic cysts, Renal cyst |
ORPHA:284 |
| Dyskeratosis Congenita, Digenic |
|
Abnormality of skin pigmentation, Abnormal palmar dermatoglyphics |
OMIM:620040 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3301 |
| Fryns Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:2059 |
| 2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:261349 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Splenomegaly, Renal hypoplasia, Neonatal death, Cystic renal dysplasia |
OMIM:269860 |
| Atelosteogenesis Type I |
|
Multiple renal cysts |
ORPHA:1190 |
| Proteus Syndrome |
|
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Lymphe... |
ORPHA:744 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Sensorineural hearing impairment, Pancreatitis, Ichthyosis |
ORPHA:565612 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
| Craniolenticulosutural Dysplasia |
|
Abnormality of skin pigmentation, Hyperpigmentation of the skin |
ORPHA:50814 |
| D-Bifunctional Protein Deficiency |
|
Splenomegaly, Hepatomegaly, Renal cyst |
OMIM:261515 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe k... |
ORPHA:2538 |
| Fryns Syndrome |
|
Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Stillbirth, Hydronephrosis |
OMIM:229850 |
| Joubert Syndrome 21 |
|
Splenomegaly, Hyperechogenic kidneys, Renal cyst |
OMIM:615636 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pericardial effusion, Inflammatory abnormality of the skin, Pneumonia |
ORPHA:26793 |
| Refractory Celiac Disease |
|
Inflammatory abnormality of the skin |
ORPHA:398063 |
| Ring Chromosome 7 Syndrome |
|
Single transverse palmar crease, Prominent crus of helix, Small hand, Genu valgum, Abnormality of... |
ORPHA:1449 |
| Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia |
ORPHA:2092 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Polycystic ovaries, Renal cyst, Cardiomegaly |
ORPHA:137675 |
| Pseudoxanthoma Elasticum |
|
Civatte bodies, Cutis laxa |
OMIM:264800 |
| Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Hepatomegaly, Duplicated collecting system, Hypospadias, Rena... |
OMIM:270400 |
| Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Palpable purpura, Membranoproliferative gl... |
ORPHA:48435 |
| Plague |
|
Chapped lip, Skin rash, Edema, Erythema nodosum, Lymphadenitis, Enterocolitis, Skin ulcer, Endoca... |
ORPHA:707 |
| Reynolds Syndrome |
|
Pruritus, Scleroderma, Sclerodactyly, Erythema nodosum |
OMIM:613471 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Eczema, Bronchiectasis, Chronic mucocutaneous candidiasis, ... |
ORPHA:391487 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma |
ORPHA:538 |
| Alkaptonuria |
|
Abnormality of skin pigmentation, Irregular hyperpigmentation |
ORPHA:56 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Vesicoureteral reflux, Hypospadias, Renal cyst |
OMIM:616975 |
| Pearson Syndrome |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Lacticaciduria, Renal cyst, Glycosuria |
ORPHA:699 |
| Ring Chromosome 13 Syndrome |
|
Aplasia/Hypoplasia of the thumb, Posteriorly rotated ears, Aplasia/hypoplasia involving bones of ... |
ORPHA:96176 |
| Alagille Syndrome 1 |
|
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... |
OMIM:118450 |
| Schinzel-Giedion Syndrome |
|
Hypospadias, Nephroblastoma, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, ... |
ORPHA:798 |
| Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Renal cyst, Left ventricular hypertrophy |
OMIM:613610 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi... |
ORPHA:534 |
| Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multiple renal cyst... |
ORPHA:892 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
| Cerebrocostomandibular Syndrome |
|
Horseshoe kidney, Renal cyst, Ectopic kidney |
OMIM:117650 |
| Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
| Cutis Marmorata Telangiectatica Congenita |
|
Displacement of the urethral meatus, Multicystic kidney dysplasia |
ORPHA:1556 |
| Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis |
ORPHA:2750 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Renal cyst |
OMIM:272460 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma... |
ORPHA:818 |
| Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:1393 |
| Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:1507 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Recurrent skin infections, Severe periodontitis, Pneumonia, Osteomyelitis, Perianal ab... |
ORPHA:2968 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Nephroblastoma |
ORPHA:1052 |
| Hajdu-Cheney Syndrome |
|
Splenomegaly, Hepatomegaly, Multiple renal cysts, Hypospadias |
ORPHA:955 |
| Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia |
OMIM:300373 |
| Meckel Syndrome |
|
Pancreatic cysts, Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia |
ORPHA:564 |
| Trisomy 10P |
|
Multiple renal cysts, Abnormality of the kidney |
ORPHA:171929 |
| Pagod Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:991 |
| Distal Deletion 15Q |
|
Abnormal localization of kidney, Micropenis, Multicystic kidney dysplasia, Hypospadias |
ORPHA:1596 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Renal cyst |
ORPHA:495875 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Renal cyst, Hydronephrosis |
ORPHA:1606 |
| Robinow Syndrome |
|
Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:97360 |
| Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:2308 |
| Williams Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Proteinuria, Recurrent urinary tract infections, Cardio... |
ORPHA:904 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:615287 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis |
ORPHA:93271 |
| Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Abnormality of the kidney,... |
ORPHA:857 |
| Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Micr... |
ORPHA:3310 |
| C Syndrome |
|
Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia |
ORPHA:1308 |
| Fraser Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, Urethral atresia |
ORPHA:2052 |
| Townes-Brocks Syndrome 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Renal hypoplasia,... |
OMIM:107480 |
| Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron... |
ORPHA:709 |
| Cornelia De Lange Syndrome |
|
Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Vesicoureter... |
ORPHA:199 |
| Branchiooculofacial Syndrome |
|
Renal agenesis, Hypospadias, Renal cyst |
OMIM:113620 |
| Genitopatellar Syndrome |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:606170 |
| Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Chord... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Chordee, Vesicoureteral reflux, ... |
ORPHA:261537 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Duplication of renal pelvis, Cho... |
ORPHA:261552 |
| Pallister-Killian Syndrome |
|
Stillbirth, Hypospadias, Renal dysplasia, Renal cyst |
OMIM:601803 |
| Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi... |
OMIM:164210 |
| Pmm2-Cdg |
|
Nephrotic syndrome, Abnormal renal tubule morphology, Multiple renal cysts, Proteinuria |
ORPHA:79318 |
