| Familial Reactive Perforating Collagenosis |
|
Abnormal epidermal morphology, Abnormal pinna morphology, Perifolliculitis, Inflammatory abnormal... |
ORPHA:79147 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Scaling skin, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous icht... |
OMIM:617571 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections |
OMIM:244850 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Pruritus |
OMIM:146750 |
| Verrucous Hemangioma |
|
Epidermal acanthosis, Inflammatory abnormality of the skin, Hyperkeratotic papule |
ORPHA:464318 |
| Peeling Skin Syndrome 6 |
|
Scaling skin, Parakeratosis, Dry skin, Atopic dermatitis, Orthokeratosis, Pruritus |
OMIM:618084 |
| Porokeratosis Plantaris Palmaris Et Disseminata |
|
Hyperkeratotic papule, Porokeratosis, Pruritus, Palmoplantar hyperkeratosis |
ORPHA:737 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Epidermal acanthosis, Parakeratosis, Erythroderma, White scaling skin, Congenital nonbullous icht... |
OMIM:604777 |
| Porokeratosis Of Mibelli |
|
Hyperkeratosis, Porokeratosis, Pruritus |
ORPHA:735 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Scaling skin, Epidermal acanthosis, Parakeratosis, Generalized ichthyosis, Hyperkeratosis, Erythr... |
OMIM:612281 |
| Familial Isolated Café-Au-Lait Macules |
|
Freckling, Multiple cafe-au-lait spots |
ORPHA:2678 |
| Dowling-Degos Disease 3 |
|
Palmar pits, Reticulated skin pigmentation, Hyperpigmented/hypopigmented macules |
OMIM:615674 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Epidermal acanthosis, Ichthyosis, Hyperkeratosis, Hypergranulosis, Orthokeratosis, Erythema |
OMIM:613943 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Epidermal acanthosis, Parakeratosis, Generalized ichthyosis, Hyperkeratosis, Scaling skin on fing... |
ORPHA:79395 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Orthokeratosis, Hypergranulosis |
OMIM:148600 |
| Ichthyosis Hystrix, Curth-Macklin Type |
|
Scaling skin, Hyperkeratotic papule, Palmoplantar keratoderma |
OMIM:146590 |
| Ichthyosis, Annular Epidermolytic, 2 |
|
Scaling skin, Ichthyosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, ... |
OMIM:620148 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:615028 |
| Keratosis, Focal Palmoplantar And Gingival |
|
Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat... |
OMIM:148730 |
| Polycystic Kidney Disease 5 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... |
OMIM:617610 |
| Peeling Skin Syndrome 4 |
|
Scaling skin, Epidermal acanthosis, Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Orthoke... |
OMIM:607936 |
| Ichthyosis With Erythrokeratoderma |
|
Scaling skin, Epidermal acanthosis, Parakeratosis, Diffuse palmoplantar hyperkeratosis, Congenita... |
OMIM:620507 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Epidermal acanthosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythrode... |
OMIM:615023 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hypergranulosis, Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Perioral hyperkeratosis,... |
OMIM:613000 |
| Dowling-Degos Disease 2 |
|
Reticular hyperpigmentation, Hyperkeratotic papule, Follicular hyperkeratosis, Hypomelanotic macule |
OMIM:615327 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Peeling Skin Syndrome 5 |
|
Scaling skin, Epidermal acanthosis, Hyperkeratosis |
OMIM:617115 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Irregular hyperpigmentation, Hyperkeratosis, Multiple cafe-au-lait spots |
ORPHA:1336 |
| Epidermolytic Hyperkeratosis 1 |
|
Scaling skin, Epidermal acanthosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar h... |
OMIM:113800 |
| Ichthyosis, Annular Epidermolytic, 1 |
|
Scaling skin, Ichthyosis, Hyperparakeratosis, Congenital bullous ichthyosiform erythroderma, Palm... |
OMIM:607602 |
| Psoriasis 2 |
|
Scaling skin, Epidermal acanthosis, Parakeratosis, Hyperkeratosis, Psoriasiform dermatitis |
OMIM:602723 |
| Dowling-Degos Disease 1 |
|
Progressive reticulate hyperpigmentation |
OMIM:179850 |
| Linear Atrophoderma Of Moulin |
|
Linear hyperpigmentation |
ORPHA:140933 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis, ... |
OMIM:617525 |
| Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Scaling skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkeratosis, Dry skin, Atopic de... |
ORPHA:530838 |
| 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 |
| Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Orthokerat... |
OMIM:604117 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Recurrent skin infections, Hyperkeratosis, Ichthyosis, Diffuse palmoplantar hyperkeratosis |
ORPHA:79503 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Sensorineural hearing impairment, Hyperkeratosis |
ORPHA:2202 |
| Acrokeratoelastoidosis Of Costa |
|
Epidermal acanthosis, Hyperkeratotic papule, Palmoplantar hyperkeratosis, Hypergranulosis, Orthok... |
ORPHA:38 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
| Insulin-Resistance Syndrome Type A |
|
Generalized hyperpigmentation, Hyperkeratosis |
ORPHA:2297 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
| Dermatoleukodystrophy |
|
Thickened skin, Hyperkeratosis |
ORPHA:1659 |
| Cole Disease |
|
Epidermal acanthosis, Hyperkeratosis, Hypergranulosis, Palmoplantar keratoderma, Punctate palmopl... |
OMIM:615522 |
| Hypotrichosis Simplex Of The Scalp |
|
Scaling skin, Epidermal acanthosis, Parakeratosis, Hyperkeratosis, Atopic dermatitis, Allergic rh... |
ORPHA:90368 |
| Nevus, Epidermal |
|
Melanocytic nevus |
OMIM:162900 |
| Aquagenic Palmoplantar Keratoderma |
|
Excessive skin wrinkling on dorsum of hands and fingers, Palmar pruritus, Atopic dermatitis, Orth... |
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, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplan... |
OMIM:617526 |
| Bazex Syndrome |
|
Scaling skin, Parakeratosis, Lip hyperpigmentation, Acanthosis nigricans, Hyperkeratosis, Palmopl... |
ORPHA:166113 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Adrenocortical Unresponsiveness To Acth With Postreceptor Defect |
|
Hyperpigmentation of the skin |
OMIM:202355 |
| Ichthyosis Hystrix, Lambert Type |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis |
OMIM:146600 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Generalized ichthyosis, Hyperkeratosis, Erythroderma, Orthokeratotic hyperkeratosis, Congenital n... |
OMIM:615024 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hypermelanotic macule, Hypomelanotic macule, Hyperkeratosis, Mixed hypo- and hyperpigmentation of... |
ORPHA:79399 |
| Epidermolytic Hyperkeratosis 2A, Autosomal Dominant |
|
Generalized hyperkeratosis, Hyperkeratosis, Erythroderma, Cobblestone-like hyperkeratosis, Congen... |
OMIM:620150 |
| Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
| Pityriasis Rubra Pilaris |
|
Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis |
OMIM:173200 |
| Keratosis Palmoplantaris Striata Ii |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:612908 |
| Ulerythema Ophryogenesis |
|
Facial erythema, Contact dermatitis, Dry skin, Acne, Hyperkeratotic papule, Follicular hyperkerat... |
ORPHA:3406 |
| Uv-Sensitive Syndrome 2 |
|
Freckling |
OMIM:614621 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Pruritus |
OMIM:131850 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Epidermal acanthosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderm... |
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 |
|
Epidermal acanthosis, Ichthyosis, Superficial dermal perivascular inflammatory infiltrate, Nonepi... |
ORPHA:87503 |
| Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
| Idiopathic Localized Lipodystrophy |
|
Scaling skin, Morphea, Hyperpigmentation of the skin, Hypopigmentation of the skin, Inflammatory ... |
ORPHA:90158 |
| Olmsted Syndrome 1 |
|
Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Subungual hyperkeratosis, Palmop... |
OMIM:614594 |
| Diamond-Blackfan Anemia 17 |
|
Hyperpigmentation of the skin |
OMIM:617409 |
| Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
| Acquired Ichthyosis |
|
Ichthyosis, Hyperkeratosis, Dry skin, Pruritus, Palmoplantar keratoderma, Recurrent skin infectio... |
ORPHA:454 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Follicular hyperkeratosis, Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess fo... |
OMIM:613736 |
| Dyschromatosis Universalis Hereditaria |
|
Hypopigmented skin patches, Hypermelanotic macule, Multiple cafe-au-lait spots, Hearing impairmen... |
ORPHA:241 |
| Anonychia With Flexural Pigmentation |
|
Hyperkeratosis, Hypermelanotic macule, Axillary and groin hyperpigmentation and hypopigmentation,... |
ORPHA:69125 |
| Bathing Suit Ichthyosis |
|
Scaling skin, Epidermal acanthosis, Parakeratosis, Ichthyosis, Thickened skin, Congenital nonbull... |
ORPHA:100976 |
| Elastosis Perforans Serpiginosa |
|
Cutis laxa, Epidermal acanthosis, Crusting erythematous dermatitis, Hyperkeratotic papule |
ORPHA:79148 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Ichthyosis, Erythroderma, Hypergranulosis, Eosinophilic infiltration of the esophagus, Palmoplant... |
OMIM:615508 |
| Atrophoderma Vermiculata |
|
Erythema, Abnormal epidermal morphology, Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis |
ORPHA:79100 |
| Parana Hard Skin Syndrome |
|
Thickened skin, Generalized hyperpigmentation, Hyperkeratosis |
ORPHA:2812 |
| Dowling-Degos Disease 4 |
|
Epidermal acanthosis, Pruritus, Hypergranulosis |
OMIM:615696 |
| Acral Peeling Skin Syndrome |
|
Scaling skin, Excessive wrinkling of palmar skin, Erythema, Hyperpigmentation of the skin |
ORPHA:263534 |
| Polycystic Kidney Disease 7 |
|
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... |
OMIM:620056 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... |
OMIM:601331 |
| Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Epidermal acanthosis, Ichthyosis, Erythroderma, Palmoplantar keratoderma, Hypergranulosis |
OMIM:615022 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Scaling skin, Epidermal acanthosis, Cheilitis, Hyperkeratosis, Dry skin, Angular cheilitis, Punct... |
OMIM:616295 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Perifollicular hyperkeratosis, Pruritus |
ORPHA:505 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Scaling skin, Parakeratosis, Psoriasiform lesion, Superficial dermal perivascular inflammatory in... |
ORPHA:284426 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Congenital Megacalycosis |
|
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... |
ORPHA:93109 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Erythroderma, Hyperkeratosis |
OMIM:136630 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Hyperpigmentation of the skin, Hyperkeratosis, Hypopigmentation of the skin, Palmoplantar hyperke... |
ORPHA:89838 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer, Ichthyosis, Hyperkeratosis, Erythroderma, Congenital bullous ichthyosiform erythroder... |
ORPHA:312 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Eczematoid dermatitis, Orthokeratosis, Acne inversa, Subungual hyperkeratosis |
OMIM:617337 |
| Infantile Digital Fibromatosis |
|
Hyperkeratosis, Epidermal acanthosis, Parakeratosis |
ORPHA:199267 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Hearing impairment, Abnormality of skin pigmentation |
OMIM:300719 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Scaling skin, Epidermal acanthosis, Generalized hyperkeratosis, Generalized ichthyosis, Dry skin,... |
ORPHA:2269 |
| Ichthyosis With Confetti |
|
Scaling skin, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperker... |
OMIM:609165 |
| Ichthyosis Prematurity Syndrome |
|
Epidermal acanthosis, Polyhydramnios, Hyperpigmentation of the skin, Generalized ichthyosis, Alle... |
OMIM:608649 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Hyperkeratosis, Cafe-au-l... |
OMIM:145250 |
| Infundibulopelvic Dysgenesis |
|
Microscopic hematuria, Multicystic kidney dysplasia |
OMIM:600989 |
| Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hearing impairment, Abnormality of skin p... |
ORPHA:42665 |
| Acrokeratosis Verruciformis |
|
Epidermal acanthosis, Hyperkeratosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Acanth... |
OMIM:101900 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Hyperpigmentation of the skin, Generalized hypopigmentation, Spotty hyperpigmentat... |
ORPHA:158681 |
| Pemphigus Foliaceus |
|
Scaling skin, Pustule, Pruritus, Erythroderma, Skin vesicle, Acantholysis, Psoriasiform dermatiti... |
ORPHA:79481 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis, Epidermal acanthosis |
OMIM:610227 |
| Classic Mycosis Fungoides |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Skin rash, D... |
ORPHA:2584 |
| Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Pityriasis Rubra Pilaris |
|
Irregular hyperpigmentation, Ichthyosis, Erythroderma, Eczematoid dermatitis, Thickened skin, Pus... |
ORPHA:2897 |
| Chilblain Lupus |
|
Skin ulcer, Malar rash, Hyperkeratosis, Discoid lupus rash, Skin rash, Inflammatory abnormality o... |
ORPHA:90280 |
| White Sponge Nevus 2 |
|
Edema, Epidermal acanthosis, Hyperparakeratosis |
OMIM:615785 |
| Epidermolytic Palmoplantar Keratoderma |
|
Epidermal acanthosis, Diffuse palmoplantar hyperkeratosis, Hypergranulosis, Palmoplantar hyperker... |
ORPHA:2199 |
| Lichen Planus Pemphigoides |
|
Hyperkeratosis, Hypopigmented streaks, Blepharitis, Conjunctivitis, Skin vesicle, Pruritus |
ORPHA:254478 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus |
OMIM:618531 |
| Acute Generalized Exanthematous Pustulosis |
|
Scaling skin, Purpura, Facial edema, Cheilitis, Hyperpigmentation of the skin, Predominantly derm... |
ORPHA:293173 |
| Olmsted Syndrome, X-Linked |
|
Epidermal acanthosis, Parakeratosis, Subungual hyperkeratosis, Hyperkeratosis, Blepharitis, Poste... |
OMIM:300918 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Parakeratosis, Epidermal acanthosis, Ichthyosis, Sclerosing cholangitis, Dry skin, Orthokeratosis... |
OMIM:607626 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly, Palmoplantar hyperkeratosis |
OMIM:212360 |
| Olmsted Syndrome 2 |
|
Epidermal acanthosis, Parakeratosis, Cheilitis, Perioral hyperkeratosis, Hyperkeratosis, Palmopla... |
OMIM:619208 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Facial erythema, Pruritus on foot, Palmar pruritus, Eczematoid dermatitis, Palmopl... |
ORPHA:64745 |
| Nephronophthisis 20 |
|
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... |
OMIM:617271 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... |
OMIM:618270 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans, Skin ulcer, Pruritus |
ORPHA:409 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Ichthyosis, Sensorineural hearing impairment, Hyperkeratosis, Erythroderma, Cobblestone-like hype... |
OMIM:602540 |
| Nephronophthisis 16 |
|
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... |
OMIM:615382 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Thickened skin, Hyperkeratosis, Reduced epidermal extracellular matrix protein 1 protein expression |
OMIM:247100 |
| Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... |
OMIM:617805 |
| Acute Radiation Syndrome |
|
Scaling skin, Skin ulcer, Hyperpigmentation of the skin, Hyperkeratosis, Hypopigmentation of the ... |
ORPHA:454831 |
| Darier Disease |
|
Hypermelanotic macule, Thickened skin, Abnormality of skin pigmentation, Acrokeratosis, Palmoplan... |
ORPHA:218 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Scaling skin, Ichthyosis, Hyperkeratosis, Dry skin, Congenital nonbullous ichthyosiform erythrode... |
OMIM:614457 |
| Acne Inversa, Familial, 3 |
|
Recurrent cutaneous abscess formation, Acne inversa, Chronic furunculosis, Perifolliculitis |
OMIM:613737 |
| Erythrokeratodermia Variabilis |
|
Irregular hyperpigmentation, Hypermelanotic macule, Hyperkeratosis, Skin rash, Dry skin, Hearing ... |
ORPHA:317 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Scaling skin, Hypermelanotic macule, Dry skin, Palmoplantar keratoderma, Freckling, Hypomelanotic... |
OMIM:618373 |
| Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
| Subacute Cutaneous Lupus Erythematosus |
|
Cheilitis, Psoriasiform lesion, Malar rash, Hyperkeratosis, Discoid lupus rash |
ORPHA:163525 |
| Hanac Syndrome |
|
Hematuria, Multiple renal cysts, Renal insufficiency |
ORPHA:73229 |
| Darier-White Disease |
|
Hypermelanotic macule, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratotic fragments |
OMIM:124200 |
| Hypogonadism, Male |
|
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias |
OMIM:241100 |
| Vulvovaginal Gingival Syndrome |
|
Pruritus, Epidermal acanthosis, Parakeratosis, Erythema |
ORPHA:83453 |
| Superficial Epidermolytic Ichthyosis |
|
Ichthyosis, Palmoplantar keratoderma, Acantholysis, Edema, Erythema |
ORPHA:455 |
| Amyloidosis, Primary Localized Cutaneous, 3 |
|
Generalized hyperpigmentation, Hypermelanotic macule, Dry skin |
OMIM:617920 |
| Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
| Ichthyosis Vulgaris |
|
Ichthyosis, Absent keratohyalin granules, Dry skin, Eczematoid dermatitis |
OMIM:146700 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Hypopigmented skin patches, Irregular hyperpigmentation, Melanocytic nevus |
ORPHA:2435 |
| Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... |
OMIM:214450 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Polycystic kidney dysplasia, Renal angiomyolipoma |
OMIM:600273 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... |
OMIM:618061 |
| Hypotrichosis 6 |
|
Pruritus, Erythema, Follicular hyperkeratosis |
OMIM:607903 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Microphallus, Decreased testicular size, Absence of pubertal development, Primary amenorrhea, Cry... |
OMIM:614840 |
| Congenital Disorder Of Glycosylation, Type If |
|
Scaling skin, Hyperkeratosis, Erythroderma, Dry skin |
OMIM:609180 |
| Basan Syndrome |
|
Hypermelanotic macule, Epidermal acanthosis, Single transverse palmar crease, Cutaneous syndactyl... |
OMIM:129200 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Hypermelanotic macule, Hypomelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Palma... |
ORPHA:79397 |
| Cutaneous Mastocytoma |
|
Scaling skin, Hypermelanotic macule, Erythema, Maculopapular exanthema, Hyperpigmentation of the ... |
ORPHA:79455 |
| Peeling Skin Syndrome 3 |
|
White scaling skin, Pruritus, Erythema |
OMIM:616265 |
| Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
| Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis, Dry skin |
ORPHA:461 |
| Uv-Sensitive Syndrome 1 |
|
Dry skin, Pigmentation anomalies of sun-exposed skin, Freckling |
OMIM:600630 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Epidermal acanthosis, Ichthyosis, Parakeratosis, Congenital ichthyosiform erythroderma, Congenita... |
OMIM:242300 |
| Peeling Skin Syndrome 2 |
|
Scaling skin, Erythema |
OMIM:609796 |
| Lamellar Ichthyosis |
|
Chronic otitis media, Ichthyosis, Abnormal helix morphology, Hyperkeratosis, Dehydration, Dry ski... |
ORPHA:313 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Epidermal acanthosis, Orthokeratotic hyperkeratosis, Streaks of hyperkeratosis along each finger ... |
OMIM:148700 |
| Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hypopigmented skin patches, Hyperpigmentation of the skin |
ORPHA:2819 |
| Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
| Lichen Planopilaris |
|
Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Hepatitis, Pruritus |
ORPHA:525 |
| Uv-Sensitive Syndrome 3 |
|
Dry skin, Freckling |
OMIM:614640 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Epidermal acanthosis, Abnormal epidermal morphology, Hypergranulosis, Palmoplantar hyperkeratosis... |
ORPHA:79501 |
| Immunodeficiency 51 |
|
Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Pustular ras... |
OMIM:613953 |
| Dowling-Degos Disease |
|
Inguinal freckling, Hypermelanotic macule, Progressive reticulate hyperpigmentation, Arthritis, H... |
ORPHA:79145 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in flexural areas, Congenital ... |
OMIM:601952 |
| Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
| Acral Self-Healing Collodion Baby |
|
Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Edema of the dorsum of hands, ... |
ORPHA:281127 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis |
OMIM:618546 |
| Acrokeratosis Verruciformis Of Hopf |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis |
ORPHA:79151 |
| Woolly Hair-Skin Fragility Syndrome |
|
Palmoplantar keratoderma, Acantholysis |
OMIM:620415 |
| Waardenburg Syndrome, Type 2F |
|
Premature graying of hair, Hypermelanotic macule, Sensorineural hearing impairment, Hypopigmentat... |
OMIM:619947 |
| Lymphatic Malformation 4 |
|
Hyperkeratosis, Lymphedema, Pedal edema |
OMIM:615907 |
| Immunodeficiency, Common Variable, 6 |
|
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... |
OMIM:613496 |
| Odontoonychodermal Dysplasia |
|
Epidermal acanthosis, Palmoplantar hyperkeratosis, Dry skin, Palmoplantar erythema, Plantar hyper... |
OMIM:257980 |
| Amyloidosis, Primary Localized Cutaneous, 1 |
|
Scaling skin, Dry skin, Pruritus |
OMIM:105250 |
| Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis, Osteomyelitis |
OMIM:615632 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hepatosplenomegaly, Hyperechogenic kidne... |
OMIM:619902 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
| Familial Benign Chronic Pemphigus |
|
Hyperkeratosis, Skin vesicle, Acantholysis, Erythema |
ORPHA:2841 |
| Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses |
|
Mottled pigmentation |
OMIM:620199 |
| Drug-Induced Localized Lipodystrophy |
|
Hypopigmentation of the skin, Erythema, Hyperpigmentation of the skin |
ORPHA:90157 |
| Focal Palmoplantar And Gingival Keratoderma |
|
Gingival hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Circumungual hyperke... |
ORPHA:2200 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Ichthyosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Pruritus |
OMIM:615821 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
| Anonychia With Flexural Pigmentation |
|
Dry skin, Axillary and groin hyperpigmentation and hypopigmentation |
OMIM:106750 |
| Nephronophthisis 3 |
|
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... |
OMIM:604387 |
| Dissecting Cellulitis Of The Scalp |
|
Edema, Recurrent skin infections, Pruritus |
ORPHA:345 |
| Iga Pemphigus |
|
Skin vesicle, Eosinophilia, Pustule, Neutrophilic infiltration of the skin, Acantholysis, Cutaneo... |
ORPHA:555905 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Pruritus, Plantar hyperkeratosis |
OMIM:616487 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Hyperkeratosis, Pruritus |
ORPHA:89843 |
| Sjögren-Larsson Syndrome |
|
Ichthyosis, Inflammatory abnormality of the eye, Hyperkeratosis, Dry skin, Abnormality of retinal... |
ORPHA:816 |
| Moynahan Syndrome |
|
Sensorineural hearing impairment, Hyperkeratosis |
ORPHA:2574 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Follicular hyperkeratosis |
OMIM:615147 |
| Pemphigus Erythematosus |
|
Hypopigmented skin patches, Acantholysis, Malar rash |
ORPHA:79480 |
| Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Cafe-au-lait spot, Hyperkeratosis, Recurrent otitis media |
OMIM:618625 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreat... |
OMIM:263200 |
| 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 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Macrotia, Congenital bullous ichthyosiform erythroderma, Follicular hyp... |
OMIM:613576 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Palmoplantar keratoderma, Epidermal acanthosis, Plantar hyperkeratosis |
OMIM:615735 |
| Night Blindness, Congenital Stationary, Type 1C |
|
Abnormality of skin pigmentation, Dry skin |
OMIM:613216 |
| Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation |
|
Discrete 2 to 5-mm hyper- and hypopigmented macules, Punctate palmoplantar hyperkeratosis, Mottle... |
OMIM:131960 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Facial erythema, Folliculitis, Dry skin, Blepharitis, Keratitis, Conjunctivitis, Palmoplantar ker... |
OMIM:308800 |
| Irida Syndrome |
|
Hyperkeratosis, Pallor, Ichthyosis |
ORPHA:209981 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Scaling skin, Palmoplantar hyperkeratosis |
OMIM:604536 |
| Psoriasis 14, Pustular |
|
Epidermal acanthosis, Parakeratosis, Cholangitis, Pustule, Psoriasiform dermatitis, Erythema, Oli... |
OMIM:614204 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Ichthyosis, Hyperkeratosis, Low-set ears, Dry skin, Eczematoid dermatitis, Cutis laxa, Abnormalit... |
OMIM:612379 |
| Dermatitis, Atopic |
|
Facial erythema, Ichthyosis, Dry skin, Atopic dermatitis, Eczematoid dermatitis, Allergic rhiniti... |
OMIM:603165 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Enlarged kidney, Hepatomegaly, Splenomegaly |
OMIM:615285 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia |
OMIM:309120 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Short finger, Tapered finger, Hyperpigmentation of the skin |
OMIM:302000 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Palmoplantar scaling skin, Palmoplantar erythema, Palmoplantar hyperkeratosis, Palmoplantar kerat... |
OMIM:605676 |
| Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:606952 |
| Griscelli Syndrome Type 3 |
|
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism |
ORPHA:79478 |
| Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion |
OMIM:616298 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Hyperpigmentation of the skin, Palmoplantar erythema, Palmoplantar keratoderma, Epidermal hyperke... |
OMIM:104100 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts |
OMIM:173900 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... |
OMIM:145001 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Palmar hyperkeratosis, Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplant... |
OMIM:144200 |
| Keratoderma Hereditarium Mutilans |
|
Ichthyosis, Sensorineural hearing impairment, Hyperkeratosis, Hearing impairment, Honeycomb palmo... |
ORPHA:494 |
| Nephronophthisis 2 |
|
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... |
OMIM:602088 |
| Harlequin Ichthyosis |
|
Ichthyosis, Congenital ichthyosiform erythroderma, Hyperkeratosis, Dehydration, Erythroderma |
ORPHA:457 |
| Variegate Porphyria, Childhood-Onset |
|
Epidermal hyperkeratosis, Atopic dermatitis |
OMIM:620483 |
| Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175900 |
| Kid Syndrome |
|
Scaling skin, Epidermal acanthosis, Prelingual sensorineural hearing impairment, Recurrent bacter... |
ORPHA:477 |
| Chilblain Lupus 2 |
|
Chilblains |
OMIM:614415 |
| Aicardi-Goutieres Syndrome 5 |
|
Scaling skin, Dry skin, Chilblains |
OMIM:612952 |
| Proteus Syndrome |
|
Hyperkeratosis, Epidermal acanthosis, Depigmentation/hyperpigmentation of skin |
OMIM:176920 |
| Immunodeficiency 58 |
|
Scaling skin, Chronic otitis media, Ichthyosis, Psoriasiform lesion, Recurrent aphthous stomatiti... |
OMIM:618131 |
| Renal Dysplasia |
|
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... |
ORPHA:93108 |
| Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar kerato... |
OMIM:606545 |
| Meige Disease |
|
Skin ulcer, Edema of the dorsum of hands, Predominantly lower limb lymphedema, Lymphedema, Pleura... |
ORPHA:90186 |
| Meckel Syndrome, Type 8 |
|
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys |
OMIM:613885 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
| Tietz Albinism-Deafness Syndrome |
|
Generalized hypopigmentation, Heterochromia iridis, White eyelashes, Congenital sensorineural hea... |
OMIM:103500 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Hepatomegaly |
OMIM:614859 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Palmoplantar keratoderma, Sensorineural hearing impairment, Epidermal acanthosis, Hyperkeratosis |
OMIM:616029 |
| Peeling Skin Syndrome 1 |
|
Scaling skin, Eosinophilia, Erythroderma, Pruritus |
OMIM:270300 |
| Aa Amyloidosis |
|
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome... |
ORPHA:85445 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis, Freckling, Melanocytic nevus |
ORPHA:1573 |
| Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Hypopigmentation of the skin, Diffuse palmoplantar hyperkeratosis |
OMIM:617294 |
| Milroy Disease |
|
Predominantly lower limb lymphedema, Hyperkeratosis, Lymphedema, Erysipelas, Pedal edema |
ORPHA:79452 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Enlarged polycystic ovaries, Polycystic ovaries |
ORPHA:90301 |
| Benign Cephalic Histiocytosis |
|
Skin rash, Inflammatory abnormality of the skin |
ORPHA:157997 |
| Hypertrichosis Lanuginosa Congenita |
|
Hearing impairment, Abnormality of skin pigmentation |
ORPHA:2222 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
| Ermine Phenotype |
|
Sensorineural hearing impairment, White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation... |
OMIM:227010 |
| Flynn-Aird Syndrome |
|
Hyperkeratosis, Progressive sensorineural hearing impairment |
OMIM:136300 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Epidermal acanthosis, Parakeratosis, Hyperkeratosis, Hearing impairment, Congenital ichthyosiform... |
OMIM:308050 |
| Chronic Actinic Dermatitis |
|
Hypopigmented skin patches, Epidermal acanthosis, Late onset atopic dermatitis, Eczematoid dermat... |
ORPHA:330064 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock, Severe sensorine... |
OMIM:601706 |
| Diffuse Cutaneous Mastocytosis |
|
Scaling skin, Mixed hypo- and hyperpigmentation of the skin, Peau d'orange, Thickened skin, Eryth... |
ORPHA:79456 |
| Ichthyosis Bullosa Of Siemens |
|
Congenital bullous ichthyosiform erythroderma |
OMIM:146800 |
| Lipoid Proteinosis |
|
Thickened skin, Hyperkeratosis, Pustule, Acne |
ORPHA:530 |
| Campomelia, Cumming Type |
|
Polycystic kidney dysplasia, Pancreatic cysts |
OMIM:211890 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Neonatal death, Renal cyst |
OMIM:614870 |
| Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
| Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Iris hypo... |
ORPHA:2513 |
| Oculocerebral Syndrome With Hypopigmentation |
|
Hypopigmentation of the skin, Silver-gray hair |
OMIM:257800 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
| Tylosis With Esophageal Cancer |
|
Parakeratosis, Follicular hyperkeratosis, Diffuse palmoplantar hyperkeratosis |
OMIM:148500 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Scaling skin, Cheilitis, Recurrent pneumonia, Palmoplantar keratoderma, Recurrent skin infections... |
ORPHA:158668 |
| Kerion Celsi |
|
Recurrent cutaneous abscess formation, Recurrent skin infections, Inflammatory abnormality of the... |
ORPHA:499 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Epidermal acanthosis, Congenital ichthyosiform erythroderma, Hyperkeratosis, Congenital nonbullou... |
OMIM:242100 |
| Leopard Syndrome 3 |
|
Multiple lentigines, Sensorineural hearing impairment, Hyperkeratosis, Low-set ears, Dry skin, Po... |
OMIM:613707 |
| 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 |
|
Epidermal acanthosis, Parakeratosis, Ichthyosis, Acanthosis nigricans, Sensorineural hearing impa... |
OMIM:618527 |
| Bardet-Biedl Syndrome 16 |
|
Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency |
OMIM:615993 |
| Noonan Syndrome 8 |
|
Polyhydramnios, Hyperpigmentation of the skin, Hyperkeratosis, Low-set ears, Pleural effusion, Ec... |
OMIM:615355 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... |
ORPHA:730 |
| Netherton Syndrome |
|
Parakeratosis, Hypereosinophilia, Chronic rhinitis, Eczematoid dermatitis, Angioedema, Congenital... |
OMIM:256500 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Recurrent urinary tract infections, Polycystic kidney dysplasia, Multiple renal cys... |
OMIM:613095 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Hypopigmented skin patches, Palmoplantar keratoderma, Triphalangeal thumb, Hyperpigmentation of t... |
ORPHA:2251 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair |
ORPHA:2786 |
| Ramon Syndrome |
|
Sensorineural hearing impairment, Hyperkeratosis, Conductive hearing impairment, Abnormality of r... |
ORPHA:3019 |
| Lymphatic Malformation 12 |
|
Polyhydramnios, Hyperkeratosis, Lymphedema, Nonimmune hydrops fetalis, Fetal ascites |
OMIM:620014 |
| Chromomycosis |
|
Hypopigmented skin patches, Keratoconjunctivitis sicca, Hyperparakeratosis, Predominantly lower l... |
ORPHA:182 |
| Schopf-Schulz-Passarge Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis, Dry skin |
OMIM:224750 |
| Centrifugal Lipodystrophy |
|
Scaling skin, Inflammatory abnormality of the skin, Lymphadenitis, Erythema |
ORPHA:90156 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Epidermal acanthosis, Stomatitis, Hyperkeratosis, Skin rash, Pustule, Joint swelling, Osteomyelitis |
OMIM:612852 |
| Familial Keratoacanthoma |
|
Hyperkeratosis, Skin ulcer |
ORPHA:493 |
| Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Acantholysis |
ORPHA:704 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... |
ORPHA:52901 |
| Medullary cystic kidney disease 2 |
|
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... |
OMIM:603860 |
| Albinism-Deafness Syndrome |
|
Hypopigmented skin patches, Irregular hyperpigmentation, Sensorineural hearing impairment, Piebal... |
ORPHA:998 |
| Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Skin ulcer, Erythema, Hyperkeratosis, Skin rash, Hepatitis, Pruritus |
ORPHA:1334 |
| Griscelli Syndrome, Type 2 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... |
OMIM:607624 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Congenital ichthyosiform erythroderma, Blepharitis, Hyperkeratosis, Pruritus |
OMIM:602400 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Dry skin, Eczematoid dermatitis, Blepharitis, Palmoplantar keratoderma, Pruritus |
OMIM:618535 |
| Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Facial erythema, Diffuse palmoplantar hyperkeratosis, Recurrent bacterial skin infections, Angula... |
ORPHA:495 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Skin ulcer, Hyperkeratosis, Penetrating foot ulcers, Hearing impairment, Osteomyelitis |
ORPHA:36386 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
|
Vitiligo |
OMIM:193200 |
| Congenital Ichthyosiform Erythroderma |
|
Ichthyosis, Erythroderma, Hearing impairment, Keratitis, Palmoplantar keratoderma, Pruritus |
ORPHA:79394 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
| Immunodeficiency 53 |
|
Recurrent pneumonia, Skin rash, Recurrent otitis media |
OMIM:617585 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Sensorineural hearing impairment, Follicular hyperkeratosis |
ORPHA:300179 |
| Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency |
ORPHA:1909 |
| Glucocorticoid Deficiency 5 |
|
Hyperpigmentation of the skin |
OMIM:617825 |
| Prolidase Deficiency |
|
Skin ulcer, Hyperkeratosis, Dry skin, White forelock, Hearing impairment, Abnormality of retinal ... |
ORPHA:742 |
| Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3316 |
| Hidrotic Ectodermal Dysplasia |
|
Hypopigmentation of hair, Hyperpigmentation of the skin, Cobblestone-like hyperkeratosis, Hearing... |
ORPHA:189 |
| Mpdu1-Cdg |
|
Scaling skin, Ichthyosis, Eczematoid dermatitis |
ORPHA:79323 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Epidermal acanthosis, Parakeratosis, Chronic rhinitis, Palmoplantar keratoderma, Follicular hyper... |
OMIM:615225 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Epidermal acanthosis, Angular cheilitis, Follicular hyperkeratosis |
OMIM:613102 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Hyperpigmented streaks |
OMIM:614323 |
| Spinocerebellar Ataxia 34 |
|
Erythroderma, Epidermal hyperkeratosis |
OMIM:133190 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Ichthyosis, Low-set, posteriorly rotated ears, Eczematoid dermatitis |
ORPHA:3055 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Hyperkeratosis, Ichthyosis, Inflammatory abnormality of the skin, Dry skin |
OMIM:610768 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:619165 |
| 46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Ambiguous genitalia, male, Hypoplasia of penis, Abnormality of the endocrine system, Bifid scrotu... |
ORPHA:753 |
| Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy |
ORPHA:3033 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Hyperkeratosis, Hypopigmentation of the skin, Thickened skin, Iris hypo... |
ORPHA:79431 |
| Rat-Bite Fever |
|
Scaling skin, Morbilliform rash, Myocarditis, Pancreatitis, Arthritis, Skin rash, Parotitis, Lymp... |
ORPHA:31205 |
| Warty Dyskeratoma |
|
Acantholysis, Epidermal thickening, Acrokeratosis |
ORPHA:69745 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Hearing impairment, Protruding ear, Multiple cafe-au-lait spots, Follicular hyperkeratosis |
ORPHA:1809 |
| Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Numerous pigmented freckles, Sensorineural hearing impairment, Heteroc... |
OMIM:193510 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Stillbirth, Enlarged kidney, Hepatomegaly, Hepatic cysts, Cystic renal dysplasia |
OMIM:615415 |
| Xeroderma Pigmentosum Variant |
|
Hypopigmentation of the skin, Dry skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin |
ORPHA:90342 |
| Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hearing impairment, Hyperkeratosis, Lymphedema |
ORPHA:79279 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Hepatomegaly, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidn... |
OMIM:231680 |
| Hypohidrotic Ectodermal Dysplasia |
|
Irregular hyperpigmentation, Keratoconjunctivitis sicca, Inflammatory abnormality of the eye, Hyp... |
ORPHA:238468 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... |
OMIM:143400 |
| Multicystic Dysplastic Kidney |
|
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... |
ORPHA:1851 |
| Pili Torti-Onychodysplasia Syndrome |
|
Abnormal pinna morphology, Generalized keratosis follicularis, Dry skin, Eczematoid dermatitis, P... |
ORPHA:2890 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Epidermal acanthosis, Thyroiditis, Dry skin, Uveitis, Punctate keratitis, Palmoplantar hyperkerat... |
OMIM:617388 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
| Poikiloderma With Neutropenia |
|
Recurrent otitis media, Hyperkeratosis, Skin rash, Reticular hyperpigmentation, Blepharitis, Recu... |
OMIM:604173 |
| Femoral-Facial Syndrome |
|
Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia, Long penis |
ORPHA:1988 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Hypopigmentation of the skin |
OMIM:610798 |
| Idiopathic Trachyonychia |
|
Ichthyosis, Vitiligo, Atopic dermatitis, Circumungual hyperkeratosis |
ORPHA:79153 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Testicular atrophy, Azoospermia |
ORPHA:276183 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Scaling skin, Ichthyosis, Sensorineural hearing impairment, Abnormal pinna morphology, Low-set ea... |
ORPHA:35173 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:281090 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sensorineural hearing impairment, Hyperkeratosis |
ORPHA:1883 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Skin ulcer, Hyperkeratosis, Hearing impairment, Abnormality of skin pigmentation, Protruding ear,... |
ORPHA:1806 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... |
OMIM:614817 |
| Neonatal Lupus Erythematosus |
|
Parakeratosis, Malar rash, Hyperkeratosis, Skin rash, Maculopapular exanthema |
ORPHA:398124 |
| Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst |
OMIM:615982 |
| Graft Versus Host Disease |
|
Scaling skin, Gastrointestinal inflammation, Inflammatory abnormality of the eye, Stomatitis, Acu... |
ORPHA:39812 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Hyperkeratosis, Dry skin |
ORPHA:1028 |
| Pachyonychia Congenita 3 |
|
Palmoplantar keratoderma, Plantar hyperkeratosis, Palmar hyperkeratosis, Chapped lip, Follicular ... |
OMIM:615726 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Enlarged kidney, Hepatomegaly, Polycystic kidney dysplasia, Pancreatic cysts, Neonatal death, Ure... |
OMIM:208540 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Hearing impairment, Enterocolitis, Hyperkeratosis |
OMIM:301108 |
| Nphp3-Related Meckel-Like Syndrome |
|
Renal dysplasia, Multicystic kidney dysplasia |
ORPHA:3032 |
| Huriez Syndrome |
|
Epidermal acanthosis, Congenital palmoplantar hyperkeratosis |
OMIM:181600 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Skin vesicle, Hyperkeratotic papule, Pruritus |
ORPHA:79410 |
| Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Short distal phalanx of finger, Brachytelomesophalangy, Freckling |
ORPHA:1547 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Scaling skin, Facial erythema, Unilateral deafness, Dry skin, Sclerodactyly, Palmoplantar keratod... |
ORPHA:1010 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... |
OMIM:610805 |
| Bacterial Toxic-Shock Syndrome |
|
Scaling skin, Myocarditis, Pneumonia, Myositis, Arthritis, Skin rash, Hepatitis, Sinusitis, Ecchy... |
ORPHA:36234 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... |
OMIM:256710 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... |
OMIM:613092 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Palmoplantar keratoderma, Abnormality of skin pigmentation |
ORPHA:79402 |
| Hydroa Vacciniforme |
|
Malar rash, Superficial dermal perivascular inflammatory infiltrate, Eczematoid dermatitis, Papul... |
ORPHA:330058 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormality of skin pigmentation, Purpura, Skin ulcer |
ORPHA:743 |
| Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy |
ORPHA:481 |
| Monilethrix |
|
Follicular hyperkeratosis |
ORPHA:573 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Abnormality of skin pigmentation, Purpura |
ORPHA:745 |
| Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Pustule, Erythema |
ORPHA:346 |
| X-Linked Sideroblastic Anemia |
|
Pallor, Hyperpigmentation of the skin |
ORPHA:75563 |
| Albinism, Oculocutaneous, Type Ii |
|
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... |
OMIM:203200 |
| Limited Cutaneous Systemic Sclerosis |
|
Hypopigmented skin patches, Abnormality of skin pigmentation, Skin ulcer, Joint contracture of th... |
ORPHA:220402 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Facial erythema, Folliculitis, Blepharitis, Keratitis, Conjunctivitis, Palmoplantar keratoderma |
OMIM:612843 |
| Joubert Syndrome 16 |
|
Nephronophthisis, Renal cyst |
OMIM:614465 |
| Sézary Syndrome |
|
Irregular hyperpigmentation, Erythroderma, Dry skin, Palmoplantar keratoderma, Edema, Pruritus |
ORPHA:3162 |
| Monilethrix |
|
Perifollicular hyperkeratosis |
OMIM:158000 |
| Nephronophthisis 13 |
|
Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex... |
OMIM:614377 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pneumonia, Recurrent otitis media, Psoriasiform lesion, Thyroiditis, Colitis, Arthritis, Bronchie... |
OMIM:614700 |
| Autoimmune Disease, Susceptibility To, 1 |
|
Vitiligo |
OMIM:607836 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Hyperkeratosis, Bronchiectasis, Reticular hyperpigmentation, Recurrent pneumonia, Generalized ret... |
OMIM:301220 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Neonatal death, Ectopic kidney, Cystic renal dysplasia |
OMIM:613730 |
| Immunodeficiency 104 |
|
Recurrent otitis media, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Otitis media, P... |
OMIM:608971 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Polycystic kidney dysplasia, Hepatomegaly, Splenomegaly |
OMIM:608776 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Scaling skin, Chronic oral candidiasis, Thyroiditis, Eczematoid dermatitis, Erythroderma, Psorias... |
OMIM:606367 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Dry skin, Follicular hyperkeratosis |
ORPHA:486815 |
| Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr... |
OMIM:308750 |
| Dracunculiasis |
|
Skin ulcer, Arthritis, Skin rash, Recurrent cutaneous abscess formation, Pruritus |
ORPHA:231 |
| Oculocutaneous Albinism Type 3 |
|
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... |
ORPHA:79433 |
| Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin, Erythema |
ORPHA:90160 |
| Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Epidermal acanthosis, Palmar pits |
OMIM:618267 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Enlarged kidney, Hydronephrosis, Neonatal death, Urethral atresia |
OMIM:314390 |
| Elastoderma |
|
Cutis laxa, Erysipelas, Premature skin wrinkling, Eczematoid dermatitis |
ORPHA:228240 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen... |
OMIM:308700 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis |
ORPHA:242 |
| Erythema Nodosum, Familial |
|
Erythema nodosum, Erythema |
OMIM:132990 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia |
OMIM:263210 |
| Pachyonychia Congenita 2 |
|
Palmoplantar hyperkeratosis, Folliculitis, Angular cheilitis, Subungual hyperkeratosis |
OMIM:167210 |
| Costello Syndrome |
|
Polyhydramnios, Acanthosis nigricans, Low-set, posteriorly rotated ears, Redundant skin, Hyperker... |
ORPHA:3071 |
| Branchiootorenal Syndrome 1 |
|
Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst... |
OMIM:113650 |
| Erosive Pustular Dermatosis Of The Scalp |
|
Pustule, Erythema |
ORPHA:222 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis |
OMIM:260910 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Crusting erythematous dermatitis, Erythema, Palmoplantar hyperkeratosis |
ORPHA:158673 |
| Paget Disease, Extramammary |
|
Eczematoid dermatitis |
OMIM:167300 |
| Recon Progeroid Syndrome |
|
Scaling skin, Proximal placement of thumb, Attached earlobe, Microtia, Dry skin, Arachnodactyly, ... |
OMIM:620370 |
| Trisomy 17P |
|
Hypoplasia of penis, Polycystic kidney dysplasia, Urethral valve, Hydronephrosis, Urethral stenosis |
ORPHA:261290 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Abnormality of skin pigmentation |
ORPHA:79411 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Epidermal acanthosis, Polyhydramnios, Dehydration, Pustule, Recurrent pneumonia |
OMIM:616069 |
| Lethal Acantholytic Erosive Disorder |
|
Abnormal helix morphology, Acantholysis, Abnormal pinna morphology, Oligohydramnios |
ORPHA:158687 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias, Renal cyst |
OMIM:614091 |
| 46,Xx Sex Reversal 4 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Retractile testis, Penoscrotal hypospadias, Ovotestis, ... |
OMIM:617480 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Acantholysis |
OMIM:609638 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis |
OMIM:615279 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Ureteral duplication, Hepatomegaly, Long-chain dicarboxylic aciduria, Polycystic... |
OMIM:608836 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Renal tubular epithelial necrosis, Hepatomegaly, Myoglobinuria, Polycystic kidney dysplasia, Red-... |
ORPHA:157 |
| 46,Xy Sex Reversal 10 |
|
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... |
OMIM:616425 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Chronic oral candidiasis, Recurrent otitis media, Chronic mucocutaneous candidiasis, Dry skin, At... |
OMIM:618282 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Renal cyst, Chronic kidney disease |
OMIM:617056 |
| Porphyria Cutanea Tarda |
|
Scaling skin, Hyperpigmentation of the skin, Hypopigmentation of the skin, Recurrent bacterial sk... |
ORPHA:101330 |
| Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis |
ORPHA:2611 |
| Trichothiodystrophy 1, Photosensitive |
|
Hyperkeratosis, Erythroderma, Dry skin, Macrotia, Congenital nonbullous ichthyosiform erythroderm... |
OMIM:601675 |
| Naxos Disease |
|
Epidermal acanthosis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Subungual hyperkeratos... |
OMIM:601214 |
| Denys-Drash Syndrome |
|
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Neonatal death, Diffuse ... |
OMIM:194080 |
| Phenylketonuria |
|
Generalized hypopigmentation, Dry skin, Eczematoid dermatitis, Blue irides, Fair hair, Scleroderma |
OMIM:261600 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Ichthyosis, Sensorineural hearing impairment, Hyperkeratosis, Recurrent bacterial skin infections... |
OMIM:148210 |
| Distal Triplication 15Q |
|
Abnormality of the kidney, Polycystic kidney dysplasia, Hydronephrosis, Nephroblastoma, Dilatatio... |
ORPHA:314588 |
| Isolated Polycystic Liver Disease |
|
Hepatomegaly, Multiple renal cysts |
ORPHA:2924 |
| Terminal Osseous Dysplasia |
|
Mesomelic arm shortening, Abnormal hand bone ossification, Low-set ears, Camptodactyly of toe, Ab... |
OMIM:300244 |
| Familial Melanoma |
|
Dry skin, Freckling |
ORPHA:618 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Scaling skin, Recurrent bacterial skin infections, Blepharitis, Pustule, Psoriasiform dermatitis,... |
ORPHA:294023 |
| Diaphanospondylodysostosis |
|
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia |
OMIM:608022 |
| Hereditary Mucoepithelial Dysplasia |
|
Hyperkeratosis |
ORPHA:1839 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst |
OMIM:231060 |
| Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
| Spastic Paraplegia 23, Autosomal Recessive |
|
Multiple lentigines, Premature graying of body hair, Scapular winging, Vitiligo, Hyperpigmentatio... |
OMIM:270750 |
| Renal Coloboma Syndrome |
|
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins... |
ORPHA:1475 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Lymphedema, Nonimmune hydrops fetalis, Membranoproliferative glomerulonephritis,... |
OMIM:137940 |
| Mycetoma |
|
Osteomyelitis, Cobblestone-like hyperkeratosis, Recurrent bacterial skin infections |
ORPHA:2583 |
| Bullous Impetigo |
|
Septic arthritis, Pustule, Recurrent bacterial skin infections, Erythema |
ORPHA:36237 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Myoglobinuria, Polycystic... |
ORPHA:228308 |
| Tyrosinemia Type 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:28378 |
| Deafness, Congenital, With Vitiligo And Achalasia |
|
Hearing impairment, Vitiligo |
OMIM:221350 |
| Nephronophthisis 9 |
|
Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts, Nephronophthisis |
OMIM:613824 |
| Fanconi Anemia, Complementation Group O |
|
Stage 5 chronic kidney disease, Hydronephrosis, Neonatal death, Renal cyst |
OMIM:613390 |
| Reactive Arthritis |
|
Recurrent aphthous stomatitis, Arthritis, Hyperkeratosis, Pericarditis, Pustule, Inflammation of ... |
ORPHA:29207 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis, Low-set ears |
ORPHA:163966 |
| Pachyonychia Congenita |
|
Palmoplantar keratoderma, Linear arrays of macular hyperkeratoses in flexural areas, Angular chei... |
ORPHA:2309 |
| Piebald Trait |
|
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... |
OMIM:172800 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Scaling skin, Ichthyosis follicularis, Hydromyelia, Hyperkeratosis, Dry skin, Eczematoid dermatit... |
OMIM:308205 |
| Absence Of Fingerprints-Congenital Milia Syndrome |
|
Thickened skin, Skin rash |
ORPHA:1658 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Ichthyosis, Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Abnormal helix morp... |
ORPHA:1005 |
| Nephronophthisis 4 |
|
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k... |
OMIM:606966 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Hepatomegaly, Polycystic kidney dysplasia, Ethylmalonic aciduria, 3-Methylglut... |
ORPHA:26791 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Iritis, Psoriasiform lesion, Malar rash, Skin rash, Oligoarthritis, Sacroiliac arthritis, Enthesi... |
ORPHA:85436 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Scaling skin, Skin ulcer, Panniculitis, Chylothorax, Lymphedema, Pleural effusion, Dry skin, Thic... |
ORPHA:2526 |
| Rhyns Syndrome |
|
Nephronophthisis, Multicystic kidney dysplasia |
ORPHA:140976 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Erythema |
ORPHA:90159 |
| Polysyndactyly With Cardiac Malformation |
|
Stillbirth, Hepatic cysts, Renal cyst |
OMIM:263630 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal cyst, Renal insufficiency |
OMIM:611773 |
| Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Progressive hearing impairment, Bilateral sensorineural hearing impairment, Skin rash |
OMIM:124950 |
| Say Syndrome |
|
Cystic renal dysplasia, Proximal renal tubular acidosis |
OMIM:181180 |
| Chilblain Lupus 1 |
|
Skin ulcer, Chilblains |
OMIM:610448 |
| Netherton Syndrome |
|
Irregular hyperpigmentation, Ichthyosis, Acanthosis nigricans, Skin rash, Dehydration, Dry skin, ... |
ORPHA:634 |
| Keratolytic Winter Erythema |
|
Pustule, Erythema |
ORPHA:50943 |
| Papillon-Lefèvre Syndrome |
|
Hypopigmented skin patches, Severe periodontitis, Periodontitis, Recurrent cutaneous abscess form... |
ORPHA:678 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
| Alagille Syndrome 2 |
|
Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency |
OMIM:610205 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Enlarged kidney, Hepatomegaly, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis,... |
OMIM:617303 |
| Donohue Syndrome |
|
Hypermelanotic macule, Acanthosis nigricans, Hyperkeratosis, Low-set ears, Macrotia |
OMIM:246200 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Scaling skin, Limited elbow extension, Sensorineural hearing impairment, Single transverse palmar... |
OMIM:618419 |
| Nephronophthisis 1 |
|
Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, Tubulointers... |
OMIM:256100 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Polycystic kidney dysplasia, Hepatomegaly, Aminoaciduria |
OMIM:214110 |
| Arima Syndrome |
|
Polyuria, Nephronophthisis, Hepatomegaly, Hematuria, Tubulointerstitial fibrosis, Polycystic kidn... |
OMIM:243910 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Enlarged kidney, Macroscopic hematuria, Proteinuria |
ORPHA:251004 |
| Albinism-Deafness Syndrome |
|
Piebald skin depigmentation, Congenital sensorineural hearing impairment, Patchy hypo- and hyperp... |
OMIM:300700 |
| Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Hyperkeratosis, Peau d'orange, Dry skin |
OMIM:614576 |
| Porphyria Cutanea Tarda, Type I |
|
Eczematoid dermatitis, Hyperpigmentation of the skin |
OMIM:176090 |
| Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, Eosinophilia, Psoriasiform lesion |
ORPHA:169154 |
| Gaucher Disease, Perinatal Lethal |
|
Purpura, Polyhydramnios, Ichthyosis, Petechiae, Microtia, Hyperkeratosis, Low-set ears, Ascites, ... |
OMIM:608013 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis |
OMIM:613091 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Stillbirth, Renal cyst, Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal dysplasia |
OMIM:236500 |
| Congenital Syphilis |
|
Myocarditis, Palmoplantar scaling skin, Purpura, Hydrops fetalis, Pancreatitis, Petechiae, Synovi... |
ORPHA:499009 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:617866 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Short first metatarsal, Single transverse palmar crease, Short distal phalanx of toe, Hypopigment... |
OMIM:601957 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
| Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
| Glycogen Storage Disease Ia |
|
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme... |
OMIM:232200 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Re... |
ORPHA:2237 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Profuse pigmented skin lesions |
ORPHA:280785 |
| Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Hyperpigmentation of the skin, Knee osteoarthritis, Hyperker... |
ORPHA:2035 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Hypopigmentation of the skin, Dry skin, Interphalangeal joint contractu... |
ORPHA:69087 |
| Van Den Bosch Syndrome |
|
Recurrent skin infections, Acrokeratosis |
ORPHA:3417 |
| Sialidosis Type 1 |
|
Sensorineural hearing impairment, Hyperkeratosis |
ORPHA:812 |
| C1Q Deficiency 2 |
|
Facial erythema, Recurrent otitis media, Malar rash, Arthritis, Discoid lupus rash, Chilblains, B... |
OMIM:620321 |
| Cutaneous Small Vessel Vasculitis |
|
Recurrent skin infections, Purpura, Erythema, Skin rash |
ORPHA:889 |
| Kindler Epidermolysis Bullosa |
|
Cheilitis, Periodontitis, Hyperkeratosis, Esophagitis, Abnormality of skin pigmentation, Inflamma... |
ORPHA:2908 |
| Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
| Lymphatic Malformation 3 |
|
Recurrent skin infections, Lymphedema |
OMIM:613480 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Stillbirth, Hepatomegaly, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Neonatal death, R... |
OMIM:614922 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Seborrheic dermatitis, Redundant skin, Arthritis, Eczematoid dermatitis, Palmoplantar hyperkerato... |
OMIM:259100 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Recurrent skin infections, Recurrent otitis media, Cutaneous abscess, Atopic dermatitis |
OMIM:618944 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Folliculitis, Inflammation of the large intestine, Acne, Erythema nodosum, Recurrent skin infecti... |
OMIM:300635 |
| Mycosis Fungoides |
|
Psoriasiform dermatitis, Pruritus, Erythema, Eczematoid dermatitis |
OMIM:254400 |
| Vogt-Koyanagi-Harada Disease |
|
Hypopigmented skin patches, Premature graying of hair, Sensorineural hearing impairment, Poliosis... |
ORPHA:3437 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hearing impairment, Hyperkeratosis, Tinnitus, Lymphedema |
ORPHA:79280 |
| Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
| Glycogen Storage Disease Ib |
|
Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme... |
OMIM:232220 |
| Familial Cutaneous Collagenoma |
|
Abnormality of skin pigmentation |
ORPHA:53296 |
| Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
| Incontinentia Pigmenti |
|
Maculopapular exanthema, Hyperkeratosis, Abnormality of skin pigmentation, Keratitis, Eosinophili... |
OMIM:308300 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Hepatomegaly, Cystic renal dysplasia |
OMIM:200995 |
| Kaposiform Lymphangiomatosis |
|
Enlarged kidney, Hepatosplenomegaly, Splenomegaly, Multiple renal cysts, Pancreatic cysts |
ORPHA:464329 |
| Kanzaki Disease |
|
Petechiae, Sensorineural hearing impairment, Hyperkeratosis, Lymphedema, Dry skin |
OMIM:609242 |
| Reynolds Syndrome |
|
Irregular hyperpigmentation, Skin ulcer, Keratoconjunctivitis sicca, Xerostomia, Skin rash, Arthr... |
ORPHA:779 |
| Cardiofaciocutaneous Syndrome |
|
Multiple lentigines, Ichthyosis, Excessive wrinkled skin, Low-set, posteriorly rotated ears, Redu... |
ORPHA:1340 |
| Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, Vesicoureteral reflux, Polycystic kidney dysplasia |
OMIM:606232 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:251270 |
| Mucoepithelial Dysplasia, Hereditary |
|
Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Hearing impairment, Recurrent pneumonia,... |
OMIM:158310 |
| Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis, Posteriorly rotated ears |
OMIM:620189 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Polycystic kidney dysplasia, Renal cyst, Splenomegaly, Pancreatic cysts |
OMIM:610199 |
| Noonan Syndrome 10 |
|
Hyperpigmentation of the skin, Hyperkeratosis, Low-set ears, Pleural effusion, Increased nuchal t... |
OMIM:616564 |
| Incontinentia Pigmenti |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Skin rash, A... |
ORPHA:464 |
| Glucocorticoid Deficiency 3 |
|
Hyperpigmentation of the skin |
OMIM:609197 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Protruding ear, Epidermal hyperkeratosis |
OMIM:190351 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Abnormality of skin pigmentation |
OMIM:225050 |
| Restrictive Dermopathy |
|
Scaling skin, Generalized hyperkeratosis, Polyhydramnios, Low-set ears, Epidermal hyperkeratosis,... |
ORPHA:1662 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Rheumatoid arthritis, Inflammatory abnormality of the skin, Pruritus, Erythema |
ORPHA:79099 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal cortical microcysts, He... |
OMIM:614866 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrolithiasis, Neph... |
OMIM:130650 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Multiple lentigines, Polyhydramnios, Ichthyosis, Hyperpigmentation of the skin, Hyperkeratosis, L... |
OMIM:607721 |
| Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... |
ORPHA:79435 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux |
ORPHA:1166 |
| Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst |
OMIM:611560 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Arthritis, Sterile arthritis, Cystic acne, Acne, Pyoderma gangrenosum, Colitis |
OMIM:604416 |
| Atelis Syndrome 1 |
|
Irregular hyperpigmentation, Microtia, Dry skin, Eczematoid dermatitis, Cafe-au-lait spot, Bronch... |
OMIM:620184 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... |
OMIM:174000 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Premature graying of hair, Abnormality of the upper limb, Abnormality of skin pigmentation, Lack ... |
ORPHA:1979 |
| Free Sialic Acid Storage Disease |
|
Abnormality of the upper limb, Abnormality of skin pigmentation, Iris hypopigmentation, Skin ulcer |
ORPHA:834 |
| Papa Syndrome |
|
Skin ulcer, Myositis, Arthritis, Crohn's disease, Pustule, Acne, Increased inflammatory response |
ORPHA:69126 |
| Immunodeficiency 66 |
|
Recurrent skin infections, Pustule |
OMIM:618847 |
| Restrictive Dermopathy 1 |
|
Scaling skin, Polyhydramnios, Low-set ears, Epidermal hyperkeratosis, Oligohydramnios |
OMIM:275210 |
| Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... |
ORPHA:79434 |
| Joubert Syndrome 18 |
|
Horseshoe kidney, Renal cyst |
OMIM:614815 |
| Large Congenital Melanocytic Nevus |
|
Hypopigmented skin patches, Abnormality of skin pigmentation, Congenital giant melanocytic nevus |
ORPHA:626 |
| Mckusick-Kaufman Syndrome |
|
Polycystic kidney dysplasia, Hydronephrosis, Hydroureter, Vesicovaginal fistula |
OMIM:236700 |
| Reticular Dysgenesis |
|
Chronic otitis media, Skin ulcer, Skin rash, Dehydration, Hearing impairment |
ORPHA:33355 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Colitis |
OMIM:613148 |
| Tyrosinemia, Type I |
|
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Glomerular sclerosis, ... |
OMIM:276700 |
| Isolated Agammaglobulinemia |
|
Pneumonia, Skin ulcer, Inflammatory abnormality of the eye, Arthritis, Skin rash, Sinusitis, Otit... |
ORPHA:229717 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of skin pigmentation |
ORPHA:1810 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hearing impairment, Abnormality of skin pigmentation |
ORPHA:457260 |
| Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... |
ORPHA:50815 |
| Cutaneous Collagenous Vasculopathy |
|
Petechiae, Skin rash, Pruritus, Erythema |
ORPHA:280779 |
| Ullrich Congenital Muscular Dystrophy 1A |
|
Protruding ear, Follicular hyperkeratosis |
OMIM:254090 |
| Grubben-De Cock-Borghgraef Syndrome |
|
Dry skin, Eczematoid dermatitis |
ORPHA:2101 |
| Papillorenal Syndrome |
|
Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst... |
OMIM:120330 |
| Protoporphyria, Erythropoietic, 1 |
|
Edema, Pruritus, Erythema, Eczematoid dermatitis |
OMIM:177000 |
| Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis |
OMIM:618161 |
| Lymphoid Interstitial Pneumonia |
|
Enlarged kidney, Hepatomegaly |
ORPHA:79128 |
| Renal Hypoplasia, Bilateral |
|
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... |
ORPHA:97362 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Sclerodactyly |
OMIM:610644 |
| 15q26 overgrowth syndrome |
|
Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal agenesis, Hy... |
DECIPHER:81 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect... |
ORPHA:731 |
| Igg4-Related Kidney Disease |
|
Urethritis, Acute kidney injury, Enlarged kidney, Renal interstitial immunoglobulin deposits, Hem... |
ORPHA:449395 |
| Senior-Loken Syndrome 3 |
|
Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts |
OMIM:606995 |
| Caroli Disease |
|
Polycystic kidney dysplasia, Hepatomegaly, Splenomegaly |
ORPHA:53035 |
| Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Ovarian cyst, Unilateral renal agenesis |
OMIM:618188 |
| Cardiofaciocutaneous Syndrome 1 |
|
Multiple lentigines, Polyhydramnios, Ichthyosis, Hyperpigmentation of the skin, Hyperkeratosis, L... |
OMIM:115150 |
| Hatipoglu Immunodeficiency Syndrome |
|
Premature graying of hair, Recurrent otitis media, Hyperpigmented/hypopigmented macules, Petechia... |
OMIM:620331 |
| Riddle Syndrome |
|
Scaling skin, Arthritis, Chronic sinusitis, Recurrent pneumonia, Recurrent sinusitis, Otitis medi... |
ORPHA:420741 |
| Xeroderma Pigmentosum |
|
Hypopigmented skin patches, Hypermelanotic macule, Sensorineural hearing impairment, Hyperkeratos... |
ORPHA:910 |
| Werner Syndrome |
|
Premature graying of hair, Skin ulcer, Hyperkeratosis, White forelock, Abnormality of retinal pig... |
ORPHA:902 |
| Testicular Agenesis |
|
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... |
ORPHA:325124 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney, Ovarian serous cystadenoma |
ORPHA:276280 |
| Bone Marrow Failure Syndrome 3 |
|
Hyperkeratosis, Eczematoid dermatitis, Hearing impairment, Cupped ear, Hypomelanotic macule |
OMIM:617052 |
| Autosomal Erythropoietic Protoporphyria |
|
Edema, Pruritus, Erythema, Eczematoid dermatitis |
ORPHA:79278 |
| Meckel Syndrome 14 |
|
Polycystic kidney dysplasia |
OMIM:619879 |
| Prune Belly Syndrome |
|
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... |
ORPHA:2970 |
| Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Hyperkeratosis, Hypopigmentation of the skin, Thickened skin, Iris hypo... |
ORPHA:79430 |
| Autosomal Agammaglobulinemia |
|
Chronic otitis media, Arthritis, Abnormal pinna morphology, Skin rash, Dehydration, Sinusitis, Co... |
ORPHA:33110 |
| Bone Marrow Failure Syndrome 4 |
|
Low-set ears, Dry skin, Eczematoid dermatitis |
OMIM:618116 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent pneumonia, Recurrent sinusitis, Atrophic gastritis, Bronchiectasis, Recurrent skin infe... |
OMIM:616576 |
| Nephronophthisis-Like Nephropathy 1 |
|
Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Hyperechogenic... |
OMIM:613159 |
| Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
| H Syndrome |
|
Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly, Micropenis |
ORPHA:168569 |
| Oculocutaneous Albinism Type 2 |
|
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... |
ORPHA:79432 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Hyperkeratosis, Dry skin |
OMIM:601701 |
| Tuberous Sclerosis Complex |
|
Abnormality of the kidney, Polycystic kidney dysplasia, Renal cell carcinoma, Renal cyst, Chronic... |
ORPHA:805 |
| Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Abnormality of skin pigmentation |
OMIM:613988 |
| Endocrine-Cerebroosteodysplasia |
|
Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus |
OMIM:612651 |
| Necrobiosis Lipoidica |
|
Skin ulcer, Inflammatory abnormality of the skin, Erythema |
ORPHA:542592 |
| Fucosidosis |
|
Hearing impairment, Generalized hyperkeratosis |
ORPHA:349 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Ecchymosis, Melanocytic nevus, Albinism, ... |
OMIM:203300 |
| Ige Responsiveness, Atopic |
|
Allergic rhinitis, Eczematoid dermatitis |
OMIM:147050 |
| Toxic Epidermal Necrolysis |
|
Skin ulcer, Pancreatitis, Conjunctivitis, Acantholysis, Erythema |
ORPHA:537 |
| Bor Syndrome |
|
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... |
ORPHA:107 |
| Subcorneal Pustular Dermatosis |
|
Erythema, Hyperpigmentation of the skin, Rheumatoid arthritis, Pustule, Pruritus |
ORPHA:48377 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ... |
ORPHA:2973 |
| Meacham Syndrome |
|
Stillbirth, Enlarged kidney, Neonatal death, Horseshoe kidney |
OMIM:608978 |
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Hyperpigmentation of the skin |
OMIM:613743 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Enlarged kidney, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Heavy proteinuria, Urinary ... |
ORPHA:505248 |
| Erythema Elevatum Diutinum |
|
Skin vesicle, Skin rash |
ORPHA:90000 |
| Epidermodysplasia Verruciformis |
|
Hypopigmented skin patches, Seborrheic dermatitis, Multiple cafe-au-lait spots, Pustule, Recurren... |
ORPHA:302 |
| Ramon Syndrome |
|
Hearing impairment, Hyperkeratosis, Juvenile rheumatoid arthritis, Pigmentary retinopathy |
OMIM:266270 |
| Bethlem Muscular Dystrophy |
|
Hyperkeratosis |
ORPHA:610 |
| Hypoadrenocorticism, Familial |
|
Abnormality of skin pigmentation |
OMIM:240200 |
| Noonan Syndrome 2 |
|
Redundant neck skin, Hypermelanotic macule, Polyhydramnios, Hyperpigmentation of the skin, Hyperk... |
OMIM:605275 |
| X-Linked Agammaglobulinemia |
|
Chronic otitis media, Hypopigmented skin patches, Skin ulcer, Sensorineural hearing impairment, S... |
ORPHA:47 |
| Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
| Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Polycystic kidney dysplasia, Aplasia of the bladder, Abnormality of the ureter |
OMIM:200980 |
| Cranio-Osteoarthropathy |
|
Arthritis, Eczematoid dermatitis, Osteoarthritis, Joint swelling, Mottled pigmentation |
ORPHA:1525 |
| Meckel Syndrome, Type 5 |
|
Renal cyst |
OMIM:611561 |
| Orofaciodigital Syndrome I |
|
Polycystic kidney dysplasia, Ovarian cyst, Proteinuria, Hepatic cysts, Pancreatic cysts |
OMIM:311200 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polycystic kidney dysplasia, Micropenis |
OMIM:616546 |
| Stevens-Johnson Syndrome |
|
Acantholysis, Pancreatitis, Erythema, Conjunctivitis |
ORPHA:36426 |
| Coach Syndrome 1 |
|
Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Renal cyst, Splenomegaly, Stage 5 chro... |
OMIM:216360 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Hyperkeratosis with erythema |
OMIM:118650 |
| Syndromic Diarrhea |
|
Polycystic kidney dysplasia, Renal hypoplasia, Hepatomegaly, Splenomegaly |
ORPHA:84064 |
| Pachydermoperiostosis |
|
Seborrheic dermatitis, Arthritis, Eczematoid dermatitis, Thickened skin, Joint swelling, Acne, Pa... |
ORPHA:2796 |
| Distal Deletion 12Q |
|
Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Congenital hy... |
ORPHA:96149 |
| Trisomy X |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3375 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Recurrent aphthous stomatitis, Sensorineural hearing impairment, Skin rash, Arthritis, Erythema n... |
OMIM:611762 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Palmoplantar cutis gyrata, Cutis laxa, Abnormality of skin pigmentation, Arachnodactyly, Long toe |
ORPHA:75496 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Thyroiditis, Skin rash, Interstitial pneumonitis, Tubulointerstitial nephritis, Angi... |
ORPHA:139402 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Perioral erythema, Perianal erythema, Blepharitis, Pustule, Erythroderma |
OMIM:614328 |
| Alg9-Cdg |
|
Enlarged kidney, Hepatomegaly, Abnormal renal artery morphology, Ureteral hypoplasia, Hydronephro... |
ORPHA:79328 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Nephrolithiasis, Nephrocalcinosis, Pr... |
ORPHA:79259 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia, Recurrent skin infections, Eosinophilic infiltration of the esophagus, Atopic derma... |
OMIM:620532 |
| Eec Syndrome |
|
Inflammatory abnormality of the eye, Generalized hypopigmentation, Sensorineural hearing impairme... |
ORPHA:1896 |
| Hereditary Acrokeratotic Poikiloderma |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Skin ulcer, Ichthyosis, Xerostomia, Kera... |
ORPHA:2907 |
| Fixed Drug Eruption |
|
Stomatitis, Crusting erythematous dermatitis, Erythema, Hyperpigmentation of the skin |
ORPHA:293812 |
| Bullous Pemphigoid |
|
Psoriasiform dermatitis, Pruritus, Erythema, Eczematoid dermatitis |
ORPHA:703 |
| Verheij Syndrome |
|
Renal agenesis, Renal hypoplasia, Renal cyst |
OMIM:615583 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hearing impairment, Hyperkeratosis |
OMIM:615510 |
| Muckle-Wells Syndrome |
|
Ichthyosis, Recurrent aphthous stomatitis, Arthritis, Skin rash, Episcleritis, Conjunctivitis, Pr... |
ORPHA:575 |
| Kawasaki Disease |
|
Myocarditis, Cheilitis, Arthritis, Skin rash, Scaling skin on fingertip, Palmoplantar erythema, P... |
ORPHA:2331 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Recurrent pneumonia, Recurrent otitis media, Inflammatory abnormality of the skin |
ORPHA:277 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst |
OMIM:614862 |
| Hajdu-Cheney Syndrome |
|
Polycystic kidney dysplasia, Hypospadias, Renal cyst |
OMIM:102500 |
| Dermatitis Herpetiformis |
|
Erythema, Eczematoid dermatitis, Edema, Skin vesicle, Pruritus |
ORPHA:1656 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Scaling skin, Chronic otitis media, Facial erythema, Recurrent otitis media, Ichthyosis, Low-set ... |
OMIM:619503 |
| Renal Cysts And Diabetes Syndrome |
|
Abnormality of the kidney, Multiple glomerular cysts, Hypospadias, Unilateral renal agenesis, Abn... |
OMIM:137920 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Multicystic kidney dysplasia |
ORPHA:500095 |
| Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Cardiomegaly |
OMIM:252500 |
| Bazex-Dupre-Christol Syndrome |
|
Eczematoid dermatitis, Acne inversa, Atopic dermatitis, Hyperpigmentation of the skin |
OMIM:301845 |
| Hemochromatosis, Type 1 |
|
Azoospermia, Impotence, Hypogonadotropic hypogonadism, Amenorrhea, Diabetes mellitus, Testicular ... |
OMIM:235200 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormality of skin pigmentation, Brachydactyly, Low-set ears, Sandal gap |
ORPHA:2180 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent otitis media, Sclerosing cholangitis, Atopic dermatitis, Disseminated molluscum contagi... |
OMIM:243700 |
| Wolfram Syndrome 1 |
|
Hydroureter, Diabetes insipidus, Neurogenic bladder, Hypothyroidism, Hydronephrosis, Diabetes mel... |
OMIM:222300 |
| Warburg-Cinotti Syndrome |
|
Follicular hyperkeratosis, Low-set ears, Atresia of the external auditory canal, Conductive heari... |
OMIM:618175 |
| Hypocomplementemic Urticarial Vasculitis |
|
Irregular hyperpigmentation, Inflammatory abnormality of the eye, Sensorineural hearing impairmen... |
ORPHA:36412 |
| Meckel Syndrome, Type 10 |
|
Micropenis, Hypospadias, Renal cyst |
OMIM:614175 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Arthritis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Osteomyelitis... |
ORPHA:324964 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Micropenis |
OMIM:263520 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Gastrointestinal inflammation, Skin ulcer, Keratoconjunctivitis sicca, Hyperpigmentation of the s... |
ORPHA:95455 |
| Phoar2-Enteropathy Syndrome |
|
Thickened skin, Seborrheic dermatitis, Acne |
OMIM:614441 |
| Nephronophthisis 11 |
|
Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Stag... |
OMIM:613550 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia |
OMIM:607361 |
| Cinca Syndrome |
|
Arthritis, Skin rash, Lymphedema, Hearing impairment, Eosinophilia, Progressive sensorineural hea... |
OMIM:607115 |
| Caroli Syndrome |
|
Abnormality of the kidney, Hepatomegaly, Polycystic kidney dysplasia |
ORPHA:480520 |
| Majeed Syndrome |
|
Joint swelling, Skin rash, Inflammatory abnormality of the skin, Osteomyelitis |
OMIM:609628 |
| Yao Syndrome |
|
Xerostomia, Skin rash, Arthritis, Pericarditis, Inflammatory abnormality of the skin, Keratoconju... |
OMIM:617321 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| B4Galt1-Cdg |
|
Edema, Redundant neck skin, Inflammatory abnormality of the skin, Low-set ears |
ORPHA:79332 |
| Premature Aging Syndrome, Penttinen Type |
|
Sensorineural hearing impairment, Hyperkeratosis, Corneal stromal edema, Thickened skin, Palmopla... |
OMIM:601812 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormal localiz... |
ORPHA:1834 |
| Bardet-Biedl Syndrome 17 |
|
Polyuria, Stage 5 chronic kidney disease, Micropenis, Renal cyst |
OMIM:615994 |
| Neurofibromatosis, Familial Spinal |
|
Cafe-au-lait spot, Freckling |
OMIM:162210 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
| De Sanctis-Cacchione Syndrome |
|
Hypermelanotic macule, Parakeratosis, Sensorineural hearing impairment, Keratitis, Conjunctivitis |
OMIM:278800 |
| Parkes Weber Syndrome |
|
Scaling skin, Skin ulcer, Abnormality of the upper limb, Abnormal femoral metaphysis morphology, ... |
ORPHA:90307 |
| Floating-Harbor Syndrome |
|
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal agenesis, Nephrocalcinosis, Hydroneph... |
ORPHA:2044 |
| Pyoderma Gangrenosum |
|
Skin ulcer, Myositis, Rheumatoid arthritis, Inflammation of the large intestine, Pustule, Skin ve... |
ORPHA:48104 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Proximal tubulopathy, Hepatomegaly, Renal cyst |
OMIM:602579 |
| Ogden Syndrome |
|
Cardiomegaly, Polycystic kidney dysplasia, Enlarged kidney, Global glomerulosclerosis |
OMIM:300855 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Ureteral duplication, Hepatomegaly, Congenital megaureter, Hypercalciuria, Vesic... |
ORPHA:116 |
| Meckel Syndrome, Type 1 |
|
Polycystic kidney dysplasia, Abnormality of the ureter, Renal agenesis, Splenomegaly, Hypoplasia ... |
OMIM:249000 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal epidermal morphology |
ORPHA:398189 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Renal cyst, Reduced renal corticomedullary differentiation, Polycystic ovaries, Multicystic kidne... |
OMIM:277000 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Enlarged kidney |
OMIM:261740 |
| 22Q11.2 Deletion Syndrome |
|
Hypospadias, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Splenomegaly, ... |
ORPHA:567 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Chronic otitis media, Skin ulcer, Skin rash, Eczematoid dermatitis, Eosinophilia, Osteomyelitis, ... |
ORPHA:2314 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Epidermal acanthosis, Parakeratosis, Seborrheic dermatitis, Superficial dermal perivascular infla... |
ORPHA:83617 |
| Gastrointestinal Stromal Tumor |
|
Large hands, Hyperpigmentation of the skin |
OMIM:606764 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent aphthous stomatitis, Chronic mucocutaneous candidiasis, Disseminated molluscum contagio... |
OMIM:614868 |
| Gjc2-Related Late-Onset Primary Lymphedema |
|
Edema of the dorsum of hands, Predominantly lower limb lymphedema, Genital edema, Recurrent skin ... |
ORPHA:568051 |
| Chime Syndrome |
|
Skin ulcer, Ichthyosis, Hyperkeratosis, Hearing impairment, Erythema |
ORPHA:3474 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Palmoplantar keratoderma, Hyperpigmentation of the skin, Hypopigmentation of the skin, Generalize... |
ORPHA:79396 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Renal cyst |
ORPHA:2031 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis... |
OMIM:301111 |
| Waardenburg Syndrome |
|
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... |
ORPHA:3440 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Chronic oral candidiasis, Recurrent aphthous stomatitis, Skin rash, Hashimoto thyroiditis, Vitili... |
ORPHA:275 |
| Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
| Cronkhite-Canada Syndrome |
|
Generalized hyperpigmentation, Abnormality of skin pigmentation, Tapered finger |
ORPHA:2930 |
| Hennekam-Beemer Syndrome |
|
Irregular hyperpigmentation, Clinodactyly of the 5th finger, Skin vesicle, Microtia, Hearing impa... |
ORPHA:2135 |
| Roberts Syndrome |
|
Polycystic kidney dysplasia, Long penis |
ORPHA:3103 |
| Antisynthetase Syndrome |
|
Myocarditis, Keratoconjunctivitis sicca, Myositis, Arthritis, Skin rash, Lack of skin elasticity,... |
ORPHA:81 |
| Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
| Vexas Syndrome |
|
Nasal chondritis, Arteritis, Sensorineural hearing impairment, Arthritis, Inflammatory abnormalit... |
OMIM:301054 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hydroureter, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalcinosis |
OMIM:615398 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Stillbirth, Polycystic kidney dysplasia, Renal cyst, Renal hypoplasia, Micropenis |
OMIM:210710 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Mixed hearing impairment, Polyhydramnios, Cutis laxa, Conductive hearing impairment, High-frequen... |
OMIM:614557 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney |
OMIM:306955 |
| Immunodeficiency 55 |
|
Recurrent skin infections, Ichthyosis, Dry skin, Eczematoid dermatitis |
OMIM:617827 |
| 3-Methylglutaconic Aciduria Type 7 |
|
3-Methylglutaconic aciduria, Nephrocalcinosis, Renal insufficiency, Renal cyst |
ORPHA:445038 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Periorbital edema, Myositis, Skin rash, Erysipelas, Conjunctivitis, Maculopapular exanthema, Olig... |
OMIM:142680 |
| Majeed Syndrome |
|
Synovitis, Pustule, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Edema, Abnormal in... |
ORPHA:77297 |
| Meckel Syndrome, Type 2 |
|
Renal cyst |
OMIM:603194 |
| Leprechaunism |
|
Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged ovaries |
ORPHA:508 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Gastritis, Skin rash, Inflammation of the large intestine, Bronchiectasis |
OMIM:618108 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Arthritis, Skin rash, Pleural effusion, Pericarditis, Anterior uveitis, Joint swelling, Juvenile ... |
ORPHA:85414 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Thickened skin, Seborrheic dermatitis, Acne |
OMIM:167100 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Recurrent urinary tract infections, Enlarged kidney |
OMIM:615873 |
| American Trypanosomiasis |
|
Myocarditis, Skin rash, Periorbital edema, Edema, Pallor, Infectious encephalitis |
ORPHA:3386 |
| Aarskog-Scott Syndrome |
|
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... |
OMIM:305400 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Hepatomegaly, Multicystic kidney dysplasia, Multiple renal cysts |
ORPHA:1318 |
| Leprosy |
|
Iritis, Acral ulceration, Hyperkeratosis, Penetrating foot ulcers, Uveitis |
ORPHA:548 |
| Distal Renal Tubular Acidosis |
|
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Renal pot... |
ORPHA:18 |
| Meckel Syndrome, Type 6 |
|
Hepatic cysts, Aplasia of the bladder, Horseshoe kidney, Renal cyst |
OMIM:612284 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Cheilitis, Ichthyosis, Hyperkeratosis, Eczematoid dermatitis, Episcleritis, Macrotia, Blepharitis... |
ORPHA:2273 |
| 17Q12 Microdeletion Syndrome |
|
Ureterocele, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Renal insufficiency |
ORPHA:261265 |
| Mixed Connective Tissue Disease |
|
Myocarditis, Purpura, Keratoconjunctivitis sicca, Gastritis, Myositis, Arthritis, Skin rash, Peri... |
ORPHA:809 |
| Meckel Syndrome, Type 7 |
|
Multiple glomerular cysts, Pancreatic cysts, Hepatosplenomegaly, Right ventricular hypertrophy, S... |
OMIM:267010 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent otitis media, Cholangitis, Chronic gastritis, Skin rash, Arthritis, Atopic dermatitis, ... |
ORPHA:183675 |
| Cholestasis-Lymphedema Syndrome |
|
Abnormality of skin pigmentation |
ORPHA:1414 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Pancolitis, Perianal abscess, Folliculitis, Enterocolitis |
OMIM:612567 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Fliedner-Zweier Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Unilateral renal agenesis |
OMIM:620511 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatomegaly, Dark urine, Renal cyst |
ORPHA:79303 |
| Uremic Pruritus |
|
Recurrent skin infections, Inflammatory abnormality of the skin, Dry skin, Pruritus |
ORPHA:94059 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
| Rothmund-Thomson Syndrome |
|
Malar rash, Skin rash, Hypopigmentation of the skin, Reticular hyperpigmentation, Palmar hyperker... |
ORPHA:2909 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Abnormality of skin pigmentation |
OMIM:616353 |
| Trisomy 13 |
|
Hydronephrosis, Displacement of the urethral meatus, Multiple renal cysts, Abnormality of the ureter |
ORPHA:3378 |
| Microscopic Polyangiitis |
|
Skin ulcer, Pancreatitis, Arthritis, Skin rash, Episcleritis, Sinusitis, Pericarditis, Peritoniti... |
ORPHA:727 |
| Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatomegaly, Renal cyst |
OMIM:601539 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Crohn's disease, Optic neuritis, Thyroiditis, Atopic dermatitis, Eczematoid dermatitis, Bronchiec... |
ORPHA:436159 |
| Sapho Syndrome |
|
Arthritis, Skin rash, Synovitis, Palmoplantar pustulosis, Pustule, Inflammation of the large inte... |
ORPHA:793 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent otitis media, Ichthyosis, Hyperkeratosis, Hypopigmentation of the skin, Eczematoid derm... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Recurrent otitis media, Ichthyosis, Hyperkeratosis, Hypopigmentation of the skin, Eczematoid derm... |
ORPHA:363958 |
| Chikungunya |
|
Facial edema, Maculopapular exanthema, Pedal edema, Petechiae, Arthritis, Skin rash, Synovitis, J... |
ORPHA:324625 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Acanthosis nigricans, Panniculitis, Myositis, Arthritis, Skin rash, Sinusitis, Conjunctivitis, Pe... |
OMIM:617591 |
| Meckel Syndrome, Type 4 |
|
Renal cyst |
OMIM:611134 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Erectile dysfunction, Infertility, Decreased libido, Hypothyroidism, Diabetes mellitus, Amenorrhe... |
ORPHA:465508 |
| Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Hearing impairment, Abnormality of skin pigmentation, Cafe-au-lait spot, Complete ... |
OMIM:227650 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Fetal megacystis, Multicystic kidney dysplasia |
ORPHA:73246 |
| Mody |
|
Glycosuria, Abnormality of the kidney, Nephropathy, Renal cyst |
ORPHA:552 |
| Immunodeficiency 81 |
|
Petechiae, Recurrent cutaneous abscess formation, Skin rash |
OMIM:619374 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Glomerulopathy, Hypospadias, Renal insufficiency, Renal cell carcinoma, Rena... |
ORPHA:93111 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Recurrent urinary tract infections, Renal cyst, Renal hypoplasia, Hydr... |
OMIM:614527 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia |
OMIM:619980 |
| Pgm3-Cdg |
|
Chronic otitis media, Skin ulcer, Sensorineural hearing impairment, Mild neurosensory hearing imp... |
ORPHA:443811 |
| Lesch-Nyhan Syndrome |
|
Nephrocalcinosis, Hyperuricosuria, Testicular atrophy, Nephrolithiasis |
OMIM:300322 |
| Peutz-Jeghers Syndrome |
|
Renal cell carcinoma, Multiple renal cysts, Enlarged polycystic ovaries, Abnormality of the ureter |
ORPHA:2869 |
| Femoral-Facial Syndrome |
|
Renal agenesis, Polycystic kidney dysplasia, Abnormal renal collecting system morphology, Micropenis |
OMIM:134780 |
| Cystic Echinococcosis |
|
Hepatomegaly, Renal cyst, Ovarian cyst, Hepatic cysts, Membranous nephropathy |
ORPHA:400 |
| Dermatomyositis |
|
Myocarditis, Facial erythema, Skin ulcer, Erythema, Myositis, Abnormal eosinophil morphology, Ski... |
ORPHA:221 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Renal agenesis, Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia |
OMIM:220500 |
| Blau Syndrome |
|
Skin ulcer, Iritis, Cystoid macular edema, Arthritis, Eczematoid dermatitis, Synovitis, Pericardi... |
OMIM:186580 |
| Sweet Syndrome |
|
Panniculitis, Myositis, Predominantly dermal neutrophilic infiltrate, Inflammation of the large i... |
ORPHA:3243 |
| Vacterl/Vater Association |
|
Ectopic kidney, Hypospadias, Hypoplasia of penis, Renal agenesis, Hydronephrosis, Multicystic kid... |
ORPHA:887 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Horseshoe kidney, Renal cyst |
ORPHA:166035 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Chronic oral candidiasis, Stomatitis, Skin rash, Chronic mucocutaneous candidiasis, Recurrent bac... |
ORPHA:911 |
| Chronic Granulomatous Disease |
|
Hypermelanotic macule, Skin ulcer, Inflammatory abnormality of the eye, Eczematoid dermatitis, Si... |
ORPHA:379 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia |
OMIM:618829 |
| Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
| Fabry Disease |
|
Sensorineural hearing impairment, Hyperkeratosis, Lymphedema, Arthritis, Hearing impairment |
ORPHA:324 |
| Melkersson-Rosenthal Syndrome |
|
Edema, Cheilitis, Inflammatory abnormality of the skin, Periorbital edema |
ORPHA:2483 |
| Woodhouse-Sakati Syndrome |
|
Protruding ear, Bilateral sensorineural hearing impairment, Scaling skin |
ORPHA:3464 |
| Transketolase Deficiency |
|
Hepatomegaly, Renal cyst, Increased level of ribose in urine |
ORPHA:488618 |
| Kleefstra Syndrome |
|
Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Renal cyst, Hydronephrosis, Micropenis, ... |
ORPHA:261494 |
| Blau Syndrome |
|
Skin ulcer, Ichthyosis, Hyperpigmentation of the skin, Xerostomia, Skin rash, Posterior uveitis, ... |
ORPHA:90340 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Generalized hypopigmentation, Microtia, Hyperkeratosis, Xerostomia, Hearing impairment, Blepharit... |
OMIM:604292 |
| Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Myositis, Thyroiditis, Interstitial pneumonitis, Tubulointerstitial nephritis, Eczemat... |
ORPHA:37042 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Sensorineural hearing impairment, Seborrheic dermatitis, Eczematoid dermatitis |
OMIM:619693 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Abnormality of dermal melanosomes, Epidermal thickening, Thickened skin, Orthokeratotic hyperkera... |
ORPHA:73223 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... |
OMIM:600740 |
| Estrogen Resistance |
|
Acanthosis nigricans, Acne |
OMIM:615363 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
| Cardiac-Urogenital Syndrome |
|
Penoscrotal hypospadias, Enlarged kidney, Micropenis, Patent urachus |
OMIM:618280 |
| Penile Agenesis |
|
Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent penis, Hydronephrosis, ... |
ORPHA:49 |
| 6Q Terminal Deletion Syndrome |
|
Hyperkeratosis, Low-set, posteriorly rotated ears |
ORPHA:75857 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Recurrent pneumonia, Palmoplantar cutis laxa, Excessive wrinkled skin, Follicular hyperkeratosis |
OMIM:225400 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Generalized hypopigmentation, Microtia, Hyperkeratosis, Xerostomia, Conductive hearing impairment... |
OMIM:129900 |
| Ulbright-Hodes Syndrome |
|
Polycystic kidney dysplasia, Abnormal penis morphology, Renal hypoplasia |
ORPHA:3404 |
| Immunoglobulin A Vasculitis |
|
Purpura, Skin ulcer, Arthritis, Skin rash, Episcleritis, Angioedema, Pustule, Orchitis, Infectiou... |
ORPHA:761 |
| Trisomy 1Q |
|
Hydronephrosis, Multicystic kidney dysplasia, Congenital megaureter |
ORPHA:261344 |
| Pallister-Hall Syndrome |
|
Hydroureter, Ectopic kidney, Renal cyst, Distal urethral duplication, Renal hypoplasia, Hydroneph... |
OMIM:146510 |
| Cohen Syndrome |
|
Genu valgum, Cubitus valgus, Clinodactyly of the 5th finger, Sandal gap, Aplasia/Hypoplasia of th... |
ORPHA:193 |
| Radio-Renal Syndrome |
|
Renal dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3015 |
| Joubert Syndrome 14 |
|
Renal cyst |
OMIM:614424 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Hypermelanotic macule, Myositis, Arthritis, Skin rash, Erysipelas, Pericarditis, Conjunctivitis, ... |
ORPHA:32960 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Hydronephrosis, Splenomegaly, Right ventr... |
OMIM:312870 |
| Cowden Syndrome |
|
Hypopigmented skin patches, Generalized hyperkeratosis, Multiple cafe-au-lait spots, Hearing impa... |
ORPHA:201 |
| Branchio-Oculo-Facial Syndrome |
|
Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia |
ORPHA:1297 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Hypospadias, Multicystic kidney dysplasia, Renal cyst, Nephroblastoma, Micropenis |
OMIM:257300 |
| Malakoplakia |
|
Skin ulcer, Skin rash, Inflammatory abnormality of the skin, Pruritus, Orchitis, Urinary bladder ... |
ORPHA:556 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Horseshoe kidney, Renal cyst |
OMIM:250410 |
| Zellweger Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Hypospadias, Hepatomegaly |
ORPHA:912 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Megacystis, Hydroureter, Multicystic kidney dysplasia |
ORPHA:2241 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias |
ORPHA:2075 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Abnormality of the ... |
ORPHA:79404 |
| Joubert Syndrome 2 |
|
Nephronophthisis, Renal insufficiency, Renal cyst |
OMIM:608091 |
| Mckusick-Kaufman Syndrome |
|
Renal hypoplasia/aplasia, Glandular hypospadias, Urogenital sinus anomaly, Hydronephrosis, Urethr... |
ORPHA:2473 |
| Mosaic Trisomy 1 |
|
Renal cortical cysts, Penile hypospadias, Micropenis, Renal cyst |
ORPHA:1692 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Proximal tubulopathy, Renal cyst, Nephrotic syndrome, Proteinuria |
OMIM:212065 |
| Trisomy 20P |
|
Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Hydronephrosis, Multiple renal... |
ORPHA:261318 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... |
OMIM:157640 |
| Proteus Syndrome |
|
Enlarged kidney, Long penis, Enlarged polycystic ovaries, Renal cyst, Splenomegaly |
ORPHA:744 |
| Von Hippel-Lindau Syndrome |
|
Epididymal cyst, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts |
OMIM:193300 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Nephroblastoma, R... |
ORPHA:99880 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Vesicoureteral reflux, Renal cyst, Renal hypoplasia, Hydronephrosis |
OMIM:618460 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Pancreatic cysts, Renal cyst, Nephritis, Proteinuria, Chronic kidney disease, Renal insufficiency |
OMIM:208500 |
| Marden-Walker Syndrome |
|
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... |
ORPHA:2461 |
| 3Q29 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Low-set ears, Abnormality of skin pigmentation, Macrotia, Tapered... |
ORPHA:65286 |
| Ablepharon Macrostomia Syndrome |
|
Excessive wrinkled skin, Microtia, Redundant skin, Dry skin, Hearing impairment, Abnormality of s... |
ORPHA:920 |
| Dubowitz Syndrome |
|
Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Sandal gap, Aplasia/Hypoplasia... |
ORPHA:235 |
| Roberts-Sc Phocomelia Syndrome |
|
Stillbirth, Hypospadias, Long penis, Polycystic kidney dysplasia, Horseshoe kidney |
OMIM:268300 |
| Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Low-set ears, Hearing impairment, Abnormality of skin pigmentation, Cafe-au-lait s... |
OMIM:227646 |
| Behcet Syndrome |
|
Iritis, Arthritis, Epididymitis, Iridocyclitis, Erythema nodosum, Erythema |
OMIM:109650 |
| Zinc Deficiency, Transient Neonatal |
|
Eczematoid dermatitis |
OMIM:608118 |
| Parathyroid Carcinoma |
|
Hypercalciuria, Renal hamartoma, Nephrolithiasis, Renal cyst, Nephrocalcinosis, Nephroblastoma, R... |
ORPHA:143 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Vesicoureteral reflux, Renal cyst, Microphallus, Renal hypoplasia, Hydronephrosis |
OMIM:618454 |
| Idiopathic Hypereosinophilic Syndrome |
|
Pancreatitis, Cholangitis, Arthritis, Pleural effusion, Eczematoid dermatitis, Angioedema, Chroni... |
ORPHA:3260 |
| Cornelia De Lange Syndrome 1 |
|
Ectopic kidney, Hypospadias, Abnormal renal morphology, Vesicoureteral reflux, Renal cyst, Renal ... |
OMIM:122470 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Stillbirth, Renal hypoplasia, Renal cyst |
OMIM:616300 |
| 2Q37 Microdeletion Syndrome |
|
Nephroblastoma, Multicystic kidney dysplasia |
ORPHA:1001 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Congenital megaureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, Renal dysplasia, Abnormality... |
ORPHA:369837 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal dysplasia, Renal cyst |
OMIM:617260 |
| Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Nephropathy |
ORPHA:1454 |
| Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
| Atypical Werner Syndrome |
|
Premature graying of hair, Skin ulcer, Hyperkeratosis, White forelock, Abnormality of retinal pig... |
ORPHA:79474 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Hydronephrosis, Micropenis |
ORPHA:464311 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Hydronephrosis, Multiple renal cysts, Renal dysplasia, Horseshoe kidney |
ORPHA:99776 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Sensorineural hearing impairment, Low-set ears, Hearing impairment, Conductive hearing impairment... |
ORPHA:536545 |
| Joubert Syndrome 1 |
|
Nephropathy, Renal cyst |
OMIM:213300 |
| Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
| Thauvin-Robinet-Faivre Syndrome |
|
Renal cyst, Bifid ureter, Renal dysplasia, Renal malrotation, Nephroblastoma |
OMIM:617107 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Renal cyst |
OMIM:617478 |
| Familial Tumoral Calcinosis |
|
Hypopigmented skin patches, Skin rash, Erythema |
ORPHA:53715 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Acute kidney injury, Ureteral duplication, Nephronophthisis, Hepatomegaly, Renal cyst, Hepatosple... |
OMIM:266920 |
| Alveolar Echinococcosis |
|
Hepatic cysts, Abnormal bladder morphology, Pancreatic cysts, Renal cyst |
ORPHA:284 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Skin rash, Chronic mucocutaneous candidiasis, Sinusitis, Recurrent pneumonia, Inflammatory abnorm... |
OMIM:102700 |
| Dyskeratosis Congenita, Digenic |
|
Abnormality of skin pigmentation, Abnormal palmar dermatoglyphics |
OMIM:620040 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:261197 |
| Tuberous Sclerosis 1 |
|
Renal cell carcinoma, Renal angiomyolipoma, Renal cyst |
OMIM:191100 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Hydronephrosis, Micropenis |
ORPHA:464306 |
| Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Renal cell carcinoma, Renal angiomyolipoma, Re... |
OMIM:613254 |
| Genitopatellar Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia |
ORPHA:85201 |
| Atelosteogenesis Type I |
|
Multiple renal cysts |
ORPHA:1190 |
| Fryns Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Hypospadias, Vesicoureteral reflux |
ORPHA:2059 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3301 |
| 2P15P16.1 Microdeletion Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia |
ORPHA:261349 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Renal hypoplasia/aplasia, Hepatomegaly, Renal agenesis, Crossed fused renal ectopia, Renal dyspla... |
ORPHA:2538 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Renal hypoplasia, Neonatal death, Splenomegaly, Cystic renal dysplasia |
OMIM:269860 |
| Craniolenticulosutural Dysplasia |
|
Abnormality of skin pigmentation, Hyperpigmentation of the skin |
ORPHA:50814 |
| D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Splenomegaly, Renal cyst |
OMIM:261515 |
| X-Linked Intellectual Disability, Snyder Type |
|
Ectopic kidney, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy |
ORPHA:3063 |
| Fryns Syndrome |
|
Stillbirth, Ureteral duplication, Hypospadias, Renal cyst, Renal agenesis, Hydronephrosis |
OMIM:229850 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Pericardial effusion, Inflammatory abnormality of the skin |
ORPHA:26793 |
| Refractory Celiac Disease |
|
Inflammatory abnormality of the skin |
ORPHA:398063 |
| Pseudoxanthoma Elasticum |
|
Cutis laxa, Civatte bodies |
OMIM:264800 |
| Joubert Syndrome 21 |
|
Hyperechogenic kidneys, Splenomegaly, Renal cyst |
OMIM:615636 |
| Plague |
|
Carbuncle, Skin ulcer, Inflammatory abnormality of the eye, Acute infectious pneumonia, Arthritis... |
ORPHA:707 |
| Ring Chromosome 7 Syndrome |
|
Genu valgum, Clinodactyly of the 5th finger, Hyperpigmented nevi, Small hand, Small earlobe, Sing... |
ORPHA:1449 |
| Focal Dermal Hypoplasia |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney, Hydronephrosis |
ORPHA:2092 |
| Histiocytoid Cardiomyopathy |
|
Cardiomegaly, Polycystic ovaries, Hepatomegaly, Renal cyst |
ORPHA:137675 |
| Postinfectious Vasculitis |
|
Gastrointestinal inflammation, Palpable purpura, Bacterial endocarditis, Arthritis, Viral hepatit... |
ORPHA:48435 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Penoscrotal hypospadias, Hypospadias, Unilateral renal agenesis, Duplicated collect... |
OMIM:270400 |
| Reynolds Syndrome |
|
Erythema nodosum, Scleroderma, Pruritus, Sclerodactyly |
OMIM:613471 |
| Lymphangioleiomyomatosis |
|
Renal neoplasm, Hematuria, Multiple renal cysts, Abnormal urinary color, Renal angiomyolipoma |
ORPHA:538 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Thyroiditis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Enterocolitis, Inflammator... |
ORPHA:391487 |
| Ring Chromosome 13 Syndrome |
|
Aplasia/hypoplasia involving bones of the hand, Aplasia/Hypoplasia of the thumb, Absent foot, Caf... |
ORPHA:96176 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Vesicoureteral reflux, Hypospadias, Renal cyst |
OMIM:616975 |
| Pearson Syndrome |
|
Hepatomegaly, Renal cyst, Glycosuria, Splenomegaly, Proteinuria, Renal insufficiency, Lacticaciduria |
ORPHA:699 |
| Alagille Syndrome 1 |
|
Duplicated collecting system, Renal tubular acidosis, Vesicoureteral reflux, Renal artery stenosi... |
OMIM:118450 |
| Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Renal cyst, Splenomegaly, Left ventricular hypertrophy, Renal insufficiency |
OMIM:613610 |
| Schinzel-Giedion Syndrome |
|
Hypospadias, Nephrolithiasis, Renal cyst, Abnormality of the ureter, Hydronephrosis, Nephroblasto... |
ORPHA:798 |
| Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst... |
ORPHA:892 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal renal tubule morphology, Glomerulopathy, Hematuria, Hypercalciuria, Nephrolithiasis, Nep... |
ORPHA:534 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hydroureter, Hypospadias, Hepatomegaly, Hypoplasia of penis, Hydronephrosis... |
ORPHA:373 |
| Cerebrocostomandibular Syndrome |
|
Horseshoe kidney, Ectopic kidney, Renal cyst |
OMIM:117650 |
| Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Male hypogonadism, Hyperinsulinemia, Abnor... |
ORPHA:273 |
| Cutis Marmorata Telangiectatica Congenita |
|
Displacement of the urethral meatus, Multicystic kidney dysplasia |
ORPHA:1556 |
| Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Hydronephrosis, Proteinuria, Pancreatic cysts |
ORPHA:2750 |
| Smith-Lemli-Opitz Syndrome |
|
Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Hydronephrosis, Ureteropelvic junctio... |
ORPHA:818 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Renal cyst |
OMIM:272460 |
| Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:1393 |
| Autosomal Recessive Robinow Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Hypoplasia of penis |
ORPHA:1507 |
| Hajdu-Cheney Syndrome |
|
Hepatomegaly, Splenomegaly, Multiple renal cysts, Hypospadias |
ORPHA:955 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Nephroblastoma, Multicystic kidney dysplasia |
ORPHA:1052 |
| Distal Deletion 15Q |
|
Micropenis, Hypospadias, Multicystic kidney dysplasia, Abnormal localization of kidney |
ORPHA:1596 |
| Meckel Syndrome |
|
Pancreatic cysts, Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia |
ORPHA:564 |
| Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia |
OMIM:300373 |
| Trisomy 10P |
|
Abnormality of the kidney, Multiple renal cysts |
ORPHA:171929 |
| 1P36 Deletion Syndrome |
|
Abnormality of the kidney, Hypospadias, Hypoplasia of penis, Renal cyst, Hydronephrosis |
ORPHA:1606 |
| Pagod Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:991 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Renal cyst |
ORPHA:495875 |
| Robinow Syndrome |
|
Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Webbed penis |
ORPHA:97360 |
| Jacobsen Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia |
ORPHA:2308 |
| Williams Syndrome |
|
Hypoplasia of penis, Hypercalciuria, Recurrent urinary tract infections, Pelvic kidney, Abnormali... |
ORPHA:904 |
| Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Neurogenic bladder, Vesicoureteral reflux, Nephrotic syndrome, Hydronephrosi... |
ORPHA:110 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Sensorineural hearing impairment, Pancreatitis, Inflammatory abnormality of the skin |
ORPHA:565612 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Renal cyst, Renal hypoplasia, Urethrovaginal fistula, Hydronephrosis |
ORPHA:93271 |
| Townes-Brocks Syndrome |
|
Abnormality of the kidney, Ectopic kidney, Hypospadias, Hypoplasia of penis, Vesicoureteral reflu... |
ORPHA:857 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydronephrosis, Multicystic kidney dysplasia, Micropenis |
OMIM:615287 |
| Tetrasomy 9P |
|
Recurrent urinary tract infections, Hydronephrosis, Multiple renal cysts, Renal dysplasia, Microp... |
ORPHA:3310 |
| C Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Horseshoe kidney |
ORPHA:1308 |
| Townes-Brocks Syndrome 1 |
|
Hypospadias, Renal insufficiency, Vesicoureteral reflux, Renal hypoplasia, Urethral valve, Renal ... |
OMIM:107480 |
| Peters Plus Syndrome |
|
Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Hydronephrosis, Renal duplication, M... |
ORPHA:709 |
| Cornelia De Lange Syndrome |
|
Hypospadias, Multicystic kidney dysplasia, Hypoplasia of penis, Vesicoureteral reflux, Renal insu... |
ORPHA:199 |
| Branchiooculofacial Syndrome |
|
Renal agenesis, Hypospadias, Renal cyst |
OMIM:113620 |
| Genitopatellar Syndrome |
|
Hydronephrosis, Micropenis, Multicystic kidney dysplasia |
OMIM:606170 |
| Mowat-Wilson Syndrome |
|
Abnormality of the kidney, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvi... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re... |
ORPHA:261537 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re... |
ORPHA:261552 |
| Pallister-Killian Syndrome |
|
Renal dysplasia, Stillbirth, Hypospadias, Renal cyst |
OMIM:601803 |
| Craniofacial Microsomia 1 |
|
Ectopic kidney, Vesicoureteral reflux, Renal agenesis, Ureteropelvic junction obstruction, Multic... |
OMIM:164210 |
| Pmm2-Cdg |
|
Nephrotic syndrome, Proteinuria, Multiple renal cysts, Abnormal renal tubule morphology |
ORPHA:79318 |
