Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Urticarial plaque, Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythem... |
ORPHA:64745 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Oral mucosal blisters, Carious teeth, Skin erosion, Localized skin lesion, Pruritus, Palmoplantar... |
ORPHA:79410 |
Porokeratosis Plantaris Palmaris Et Disseminata |
|
Abnormal skin morphology of the palm, Porokeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin ... |
ORPHA:737 |
Dowling-Degos Disease |
|
Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Abnormality of the hand, Palmar pit... |
ORPHA:79145 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Asthma, Ski... |
ORPHA:90280 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ab... |
ORPHA:87503 |
Darier Disease |
|
Macule, Acrokeratosis, Hypermelanotic macule, Pruritus, Thickened skin, Plantar pits, Palmoplanta... |
ORPHA:218 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Erythema, Hyperparakeratosis, Palmoplantar hyperkeratosis, Erythematous plaque, Congenital bullou... |
OMIM:607602 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer, Papule |
ORPHA:2337 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Abnormal oral mucosa morphology, Acantholysis, Pruritus, Pustule, Erythe... |
ORPHA:79481 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... |
OMIM:620148 |
Ulerythema Ophryogenesis |
|
Acne, Dry skin, Erythematous papule, Facial erythema, Dermal atrophy, Follicular hyperkeratosis, ... |
ORPHA:3406 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Osteopenia, Osteomyelitis, Skin rash, Eczema, Craniosynostosis, Abnorm... |
ORPHA:2314 |
Cutaneous Mastocytoma |
|
Macule, Maculopapular exanthema, Hypermelanotic macule, Telangiectasia of the skin, Hyperpigmente... |
ORPHA:79455 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Scaling skin on fingertip, Parakeratosis, Hypergranulosis, Sensorineural hearing impairment, Hone... |
ORPHA:79395 |
Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... |
ORPHA:454 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Oral mucosal blisters, Pruritus, Palmoplantar hyperkeratosis, Skin fragility with ... |
ORPHA:158681 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Skin erosion, Erythema |
ORPHA:2841 |
Pemphigoid Gestationis |
|
Skin vesicle |
ORPHA:63275 |
Atrophoderma Vermiculata |
|
Hypoplastic pilosebaceous units, Pruritus, Erythema, Periauricular skin pits, Atrophic scars, Ski... |
ORPHA:79100 |
Erythema Elevatum Diutinum |
|
Skin vesicle, Skin nodule |
ORPHA:90000 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Telangiectasia of the skin, Abnormality of the hand, Indura... |
ORPHA:542592 |
Lichen Planus Pemphigoides |
|
Abnormal oral mucosa morphology, Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis |
ORPHA:254478 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperkeratosis, Atop... |
ORPHA:530838 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Acantholysis, Oral mucosal blisters, Pruritus, Pustule, Ul... |
ORPHA:555905 |
Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Generalized ichthyosis, Er... |
OMIM:612281 |
Prolidase Deficiency |
|
Aplasia/Hypoplasia of the skin, Bilateral single transverse palmar creases, Arachnodactyly, Micro... |
ORPHA:742 |
Juvenile Hyaline Fibromatosis |
|
Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Joint stiffness, Subcutaneous n... |
ORPHA:2028 |
Classic Mycosis Fungoides |
|
Skin rash, Eczema, Pruritus, Erythema, Hypopigmented skin patches, Skin ulcer, Skin plaque, Hyper... |
ORPHA:2584 |
Junctional Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Localized skin lesion, Fragile skin, Gastrointestinal infla... |
ORPHA:79405 |
Acrokeratoelastoidosis Of Costa |
|
Yellow papule, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hyperkeratosis, Hyperkerat... |
ORPHA:38 |
Erythrokeratodermia Variabilis |
|
Macule, Brachydactyly, Skin rash, Hypermelanotic macule, Tapered finger, Erythema, Patchy palmopl... |
ORPHA:317 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Subcutaneous nodule, Flexion contract... |
ORPHA:231 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Ankylosis, Abnormal... |
ORPHA:659 |
Progressive Symmetric Erythrokeratodermia |
|
Erythema, Palmoplantar keratoderma, Skin plaque |
ORPHA:316 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... |
OMIM:617571 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Palmar hyperlinearity, Palmoplantar keratoderma, Congenital nonbullous ichthyosifo... |
OMIM:604777 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:613943 |
Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology, Joint stiffness, Erythema, Urticaria, Hyperkeratosis, Ichthyos... |
ORPHA:816 |
Dermatitis, Atopic |
|
Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Asthma, Atopic dermatitis, Facial... |
OMIM:603165 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... |
OMIM:617526 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Syndactyly, Ectodermal dysplasia, Palmoplantar keratoderma, Follicular ... |
OMIM:613576 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Localized skin lesion, Fragile skin, Gastrointestinal infla... |
ORPHA:79406 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Skin erosion, Fragile skin, Gastrointestinal inflammation, ... |
ORPHA:79411 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Hypermelanotic macule, Abnormality of the dentition, Oral mucosal blister... |
ORPHA:79399 |
Hennekam-Beemer Syndrome |
|
Macule, Telangiectasia of the skin, Camptodactyly of finger, Pneumonia, Micrognathia, Pruritus, C... |
ORPHA:2135 |
Porokeratosis Of Mibelli |
|
Aplasia/Hypoplasia of the skin, Porokeratosis, Pruritus, Hyperkeratosis, Cutaneous photosensitivity |
ORPHA:735 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Anonychia With Flexural Pigmentation |
|
Abnormal skin morphology of the palm, Macular telangiectasia, Hypermelanotic macule, Carious teet... |
ORPHA:69125 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Papule, Recurrent cutaneous fungal infections |
OMIM:244850 |
Cutaneous Small Vessel Vasculitis |
|
Skin rash, Recurrent skin infections, Cutis marmorata, Erythema, Subcutaneous nodule, Urticaria, ... |
ORPHA:889 |
Aquagenic Palmoplantar Keratoderma |
|
Abnormal phalangeal joint morphology of the hand, Excessive skin wrinkling on dorsum of hands and... |
ORPHA:498359 |
Hyperkeratosis Lenticularis Perstans |
|
Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer, Papule |
ORPHA:409 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoder... |
ORPHA:312 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Natal tooth, Eczema, Scarring alopecia of scalp, Cleft palate, Palmar h... |
OMIM:617337 |
Dermatitis Herpetiformis |
|
Macule, Eczema, Recurrent fractures, Pruritus, Erythema, Urticaria, Skin vesicle |
ORPHA:1656 |
Maculopapular Cutaneous Mastocytosis |
|
Macule, Yellow papule, Pruritus, Dyspnea, Erythema, Darier's sign, Dermatographic urticaria, Gene... |
ORPHA:79457 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Skin rash, Recurrent fractures, Craniosynostosis, Persistence of primary teeth, Eryth... |
OMIM:147060 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Neonatal respiratory distress, Increased connective tissue, Carious teeth, Scarring alopecia of s... |
OMIM:226670 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Camptodactyly of finger, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, ... |
OMIM:212360 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Dyspnea, Cheilitis... |
ORPHA:293173 |
Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Hypergranulosis, Erythema, Palmoplantar hyperkeratosis, Abnormality of pr... |
OMIM:257980 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Parakeratosis, Pruritus, Jaundice, Sclerosing cholangitis, Oligodontia, Hypodontia, Ichthyosis, O... |
OMIM:607626 |
Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis, Skin nodule, Verrucous papule |
ORPHA:139414 |
Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthokeratosis |
OMIM:607936 |
Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Erythema, Palmoplantar keratoderma, Skin plaque |
OMIM:617524 |
Jessner Lymphocytic Infiltration Of The Skin |
|
Pruritus, Erythema, Skin plaque, Cutaneous photosensitivity, Papule |
ORPHA:33314 |
Acral Peeling Skin Syndrome |
|
Macule, Eczema, Erythema, Scaling skin, Ichthyosis, Skin erosion, Papule, Excessive wrinkling of ... |
ORPHA:263534 |
Erosive Pustular Dermatosis Of The Scalp |
|
Pustule, Scarring alopecia of scalp, Erythema, Skin erosion |
ORPHA:222 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Erythematous plaque, Palmoplantar kerat... |
OMIM:173200 |
Pressure-Induced Localized Lipoatrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Skin nodu... |
ORPHA:90160 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Scarring alopecia of scalp, Atrophic scars, Palmoplantar keratoderma, Apla... |
ORPHA:79402 |
Chronic Mucocutaneous Candidiasis |
|
Skin rash, Abnormal dental enamel morphology, Pruritus, Erythema, Cheilitis, Skin ulcer, Hepatiti... |
ORPHA:1334 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Autoamputation of digits, Pruritus, Hyperparakeratosis, ... |
OMIM:614594 |
Lichen Planopilaris |
|
Pruritus, Hypopigmented skin patches, Skin ulcer, Hepatitis, Hyperkeratosis, Dermal atrophy, Neop... |
ORPHA:525 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Skin ulcer, Congenital localized absence of skin, Abnormality ... |
ORPHA:1114 |
Cole Disease |
|
Hypopigmented macule, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:615522 |
Acrogeria |
|
Aplasia/Hypoplasia of the skin, Lipoatrophy, Prematurely aged appearance, Telangiectasia of the s... |
ORPHA:2500 |
Idiopathic Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Pruritus,... |
ORPHA:90158 |
Dermatofibrosarcoma Protuberans |
|
Subcutaneous nodule, Thickened skin, Erythema, Skin ulcer |
ORPHA:31112 |
Chilblain Lupus 1 |
|
Autoamputation of digits, Chilblains, Skin ulcer |
OMIM:610448 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Palmoplantar blistering, Hyperkeratosis, Milia |
OMIM:131800 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Aplasia cutis congenita on trunk or limbs, Oral mucosal blisters, Pruritus, Palmoplantar hyperker... |
ORPHA:89838 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Eclabion, Hypergranulosis, Hyperkeratosis, Palmar hyperlinearity, Congenital nonbullous ichthyosi... |
OMIM:615023 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Parakeratosis, Single transverse palmar crease, Micrognathia, Absent middl... |
OMIM:308050 |
Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Recurrent bacterial skin infections, Plantar hyperkeratosis, Angular cheilitis, Thickened skin, D... |
ORPHA:495 |
Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Abnormal oral mu... |
ORPHA:79147 |
Hydroa Vacciniforme |
|
Superficial dermal perivascular inflammatory infiltrate, Hydroa vacciniforme, Eczema, Scarring, T... |
ORPHA:330058 |
Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Skin nodu... |
ORPHA:90159 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Osteomyelitis, Poor wound healing, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis, Cough, Pa... |
ORPHA:36386 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Upper airway obst... |
ORPHA:141152 |
Erythema Of Acral Regions |
|
Erythema, Talipes equinovarus, Abnormality of the dentition |
OMIM:227000 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Multiple cafe-au-lait spots, Hyperkeratosis, Cutaneous photosensitivity, Papule |
ORPHA:1336 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Plantar hyperkeratosis, Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia... |
OMIM:226650 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Joint stiffness, Palmoplantar hyperkeratosis, Abnormality of the dentition |
OMIM:617756 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Skin ulcer, Atrophic scars, Inflammation of the large intestine, Rheumatoid ar... |
ORPHA:48104 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Inguinal hernia, Asthma, Erythema, Gingivitis, Hyperkeratosis, Scaling skin, Congenital nonbullou... |
OMIM:614457 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Swollen lip, Pruritus, Angioedema, Erythema, Upper airway obs... |
ORPHA:100057 |
Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Scarring, Pustule, Scarring alopecia of scalp, Erythema |
ORPHA:346 |
Vulvovaginal Gingival Syndrome |
|
Parakeratosis, Pruritus, Erythema, Oral ulcer, Gingivitis, Skin erosion |
ORPHA:83453 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Erythema, Crusting erythematous dermatitis, Abnormality of the elbow, Palmoplantar hyperkeratosis... |
ORPHA:158673 |
Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Respiratory distress, Dental crowding, Posteriorly rotated e... |
OMIM:614669 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Verrucous papule, Acrokeratosis |
OMIM:101900 |
Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Tarsal synostosis, Abnormality of the hand, Abnormality of the de... |
ORPHA:1657 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Carious teeth, Scarring alopecia of scalp, Keratitis, Facial erythema, Folliculitis, Palmoplantar... |
OMIM:612843 |
Parana Hard Skin Syndrome |
|
Tapered finger, Thickened skin, Respiratory insufficiency, Hyperkeratosis, Restricted chest movement |
ORPHA:2812 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Cutaneous Collagenous Vasculopathy |
|
Macule, Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasi... |
ORPHA:280779 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess |
OMIM:619986 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Skin ulcer, Arthritis, Ot... |
ORPHA:229717 |
Mal De Meleda |
|
Ichthyosis, Congenital symmetrical palmoplantar keratosis, Perioral erythema, Brachydactyly |
OMIM:248300 |
Ollier Disease |
|
Micromelia, Joint stiffness, Abnormal cartilage morphology, Subcutaneous nodule, Osteolysis, Skin... |
ORPHA:296 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Hyperkeratosis, Der... |
OMIM:136300 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca... |
ORPHA:251393 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Wells Syndrome |
|
Skin vesicle |
ORPHA:901 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Cutis marmorata, Achilles tendon contracture, Dental malocclusion, Spot... |
OMIM:619719 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Erythema, Tooth agenesis, Hyperkeratosis, Palmoplantar keratoderma, Icht... |
OMIM:615821 |
Localized Scleroderma |
|
Fasciitis, Flexion contracture, Uveitis, Hashimoto thyroiditis, Thickened skin, Abnormal facial s... |
ORPHA:90289 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Dermal atrophy, Skin vesicle, ... |
ORPHA:257 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Angular cheilitis, Follicular hyperkeratosis |
OMIM:613102 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Sensorineural hearing impairment, Tooth ankylosi... |
OMIM:166750 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Hearing impairment, M... |
OMIM:618363 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Flexion contracture of finger, Abnormal dental morphology, Interphalang... |
ORPHA:69087 |
Dyskeratosis Congenita |
|
Hypoplasia of the maxilla, Premature graying of hair, Periodontitis, Skin vesicle, Macule, Aplasi... |
ORPHA:1775 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic dermatitis, Skin ulcer, Recurrent ... |
ORPHA:217390 |
Angioma Serpiginosum |
|
Macule, Erythema, Vascular skin abnormality |
ORPHA:95429 |
Limited Cutaneous Systemic Sclerosis |
|
Foot joint contracture, Telangiectasia of the skin, Hypopigmented skin patches, Skin ulcer, Pulmo... |
ORPHA:220402 |
Peeling Skin Syndrome 3 |
|
Pruritus, Erythema, White scaling skin |
OMIM:616265 |
Hereditary Acrokeratotic Poikiloderma |
|
Palmoplantar hyperkeratosis, Gingivitis, Papule, Finger syndactyly, Open bite, Skin ulcer, Urtica... |
ORPHA:2907 |
Familial Cold Autoinflammatory Syndrome 3 |
|
Allergic rhinitis, Pruritus, Asthma, Erythema, Angioedema, Dermatographic urticaria, Cold urticar... |
OMIM:614468 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Scarring, Pruritus, Subcutaneous nodule, Abnormality of the elbow, Hyperkeratosis, Atrophic scars... |
ORPHA:89843 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Sensorineural hearing impairment, Asthma, Hyperkeratosis, Palmoplantar... |
OMIM:616029 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Autoamputation of digits, Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Flexion... |
ORPHA:79503 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Autoamputation of digits, Acral ulceration, Intrinsic hand muscle atrophy |
OMIM:614213 |
Ramon Syndrome |
|
Delayed eruption of teeth, Telangiectasia of the skin, Abnormal dental enamel morphology, Sensori... |
ORPHA:3019 |
Sydenham Chorea |
|
Movement abnormality of the tongue, Erythema, Septic arthritis, Endocarditis |
ORPHA:306731 |
Vibratory Urticaria |
|
Urticaria, Flushing, Facial erythema |
OMIM:125630 |
48,Xyyy Syndrome |
|
Acne, Asthma, Thick lower lip vermilion, Irregularly spaced teeth, Radioulnar synostosis, High pa... |
ORPHA:99329 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Abnormal dental morphology, Camptodactyly of finger, Osteomalacia, Micromelia, Telang... |
ORPHA:2176 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Localized skin lesion, Fragile skin, Gastrointestinal infla... |
ORPHA:79409 |
Flynn-Aird Syndrome |
|
Joint stiffness, Carious teeth, Bone cyst, Skin ulcer, Dermal atrophy, Progressive sensorineural ... |
ORPHA:2047 |
Erythema Nodosum, Familial |
|
Erythema nodosum, Erythema |
OMIM:132990 |
Reynolds Syndrome |
|
Skin rash, Telangiectasia of the skin, Pruritus, Jaundice, Skin ulcer, Respiratory insufficiency,... |
ORPHA:779 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Pulmonary embolism, Skin ulcer, Thin skin, Subcutaneous hemorrhag... |
ORPHA:743 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Redundant skin, Seborrheic dermatitis, Erythema, Osteoporosis, Clubbing, Palmoplantar... |
OMIM:259100 |
Chikungunya |
|
Macule, Maculopapular exanthema, Skin rash, Epistaxis, Joint stiffness, Pruritus, Erythema nodosu... |
ORPHA:324625 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Posteriorly rotated ears, Micrognathia, Dyspnea, Gingival overgrowth, Gingi... |
ORPHA:1832 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Abnormality of the hand, Pustule, S... |
ORPHA:3243 |
Reticulate Acropigmentation Of Kitamura |
|
Macule, Hyperkeratosis |
OMIM:615537 |
C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Oral ulcer, Bronchiectasis, Facial erythema, Arthritis, Vasculiti... |
OMIM:620321 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:617574 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Keratoderma Hereditarium Mutilans |
|
Autoamputation of digits, Sensorineural hearing impairment, Osteolysis, Honeycomb palmoplantar hy... |
ORPHA:494 |
Elastosis Perforans Serpiginosa |
|
Skin-colored papule, Crusting erythematous dermatitis, Cutis laxa, Hyperkeratotic papule, Erythem... |
ORPHA:79148 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Early cutaneous photosensitivity, Erythema, Colitis |
OMIM:219095 |
Pachyonychia Congenita |
|
Respiratory distress, Natal tooth, Epidermoid cyst, Angular cheilitis, Palmoplantar blistering, L... |
ORPHA:2309 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Subcutaneous nodule |
ORPHA:2297 |
Rosaï-Dorfman Disease |
|
Erythema, Subcutaneous nodule, Osteolysis, Papule |
ORPHA:158014 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... |
OMIM:615508 |
Prolidase Deficiency |
|
Chronic lung disease, Eczema, Micrognathia, Asthma, Crusting erythematous dermatitis, Recurrent p... |
OMIM:170100 |
Keratosis Pilaris Atrophicans |
|
Erythema, Papule, Comedo |
OMIM:604093 |
Proliferating Trichilemmal Cyst |
|
Epidermoid cyst, Skin ulcer |
ORPHA:492 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Erythema, Septic arthritis |
ORPHA:36237 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Erythema, Hyperkeratosis, Palmar hyperlinearity, Palmoplantar keratoderma, Congenital nonbullous ... |
OMIM:606545 |
Corneodermatoosseous Syndrome |
|
Brachydactyly, Abnormal dental enamel morphology, Abnormality of the hand, Carious teeth, Thicken... |
ORPHA:3194 |
Hypotrichosis 6 |
|
Pruritus, Erythema, Follicular hyperkeratosis |
OMIM:607903 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis |
OMIM:615327 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Pyoderma gangrenosum, Bronchi... |
OMIM:616576 |
Mastocytosis, Cutaneous |
|
Urticaria, Erythema, Hypermelanotic macule, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Thick lower lip vermilion, Osteoporosis, Microdontia of primary teeth, Hyp... |
OMIM:234250 |
Incontinentia Pigmenti |
|
Abnormal hand morphology, Orofacial cleft, Uveitis, Infectious encephalitis, Finger syndactyly, A... |
ORPHA:464 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia, Palmoplantar hyperkeratosis |
OMIM:615328 |
Porphyria Variegata |
|
Proximal muscle weakness in upper limbs, Scarring, Thickened skin, Localized skin lesion, Respira... |
ORPHA:79473 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture, Large fleshy ears, C... |
OMIM:203550 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Posteriorly rotated ears, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dent... |
OMIM:613684 |
Chromomycosis |
|
Erythematous macule, Pruritus, Keratitis, Ankylosis, Subcutaneous nodule, Verrucous papule, Hypop... |
ORPHA:182 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly, Carious teeth, Congenital localized absence of skin, Atrophic scars, Enamel hypoplasi... |
OMIM:226700 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Osteomyelitis, Sensorineural hearing... |
ORPHA:47 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Sensorineural hearing impairment, Palmoplantar keratoderma |
ORPHA:2202 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Ectoderma... |
OMIM:613573 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis, Papule |
ORPHA:315 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Skin ulcer, Chronic otitis media, Emphysema, Chronic sinusitis |
OMIM:604571 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Cut... |
ORPHA:727 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Elbow flexion contracture, Pyoderma gangrenosum, Knee flexion contracture, Sterile arthriti... |
OMIM:604416 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Keratitis, Scarring alopecia of scalp, Facial erythema, Folliculitis, Palmoplantar keratoderma, C... |
OMIM:308800 |
Fixed Drug Eruption |
|
Erythema, Crusting erythematous dermatitis, Oral ulcer, Erythematous plaque, Stomatitis, Skin ero... |
ORPHA:293812 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Hepatitis, Palmoplantar hyperkeratosis, Thick vermilion border, Enamel hypoplasia |
ORPHA:363523 |
Glutamine Deficiency, Congenital |
|
Neonatal respiratory distress, Apnea, Micromelia, Erythema, Flexion contracture, Thin vermilion b... |
OMIM:610015 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Brachydactyly, Metaphyseal dysplasia, Cutis marmorata, Sensorineural h... |
ORPHA:3219 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, Anhidrotic ectodermal dysplasia, 2-3 toe cutaneous synd... |
OMIM:129400 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Carious teeth, Dyspnea, Flexion contracture, Osteolysis, Skin ulcer, ... |
ORPHA:220393 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Foot osteomyelitis, Acral ulceration, Skin ulcer |
ORPHA:139578 |
Perching Syndrome |
|
Respiratory distress, Cyanosis, High palate, Camptodactyly, Joint contracture |
OMIM:617055 |
Intellectual Disability, Birk-Barel Type |
|
Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow pal... |
ORPHA:166108 |
Keratolytic Winter Erythema |
|
Pustule, Erythema |
ORPHA:50943 |
Beta-Thalassemia |
|
Hepatitis, Respiratory insufficiency, Skin ulcer, Reduced bone mineral density, Pallor |
ORPHA:848 |
Brooke-Spiegler Syndrome |
|
Hearing impairment, Salivary gland neoplasm, Skin-colored papule, Skin nodule, Skin ulcer, Abnorm... |
ORPHA:79493 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Hypergranulosis, Short toe, Erythema, Hyperkeratosis, Palmar hyperlinearity, Palmoplantar keratod... |
OMIM:242100 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Skin ulce... |
ORPHA:69126 |
Keratolytic Winter Erythema |
|
Erythema, Palmoplantar hyperhidrosis |
OMIM:148370 |
Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Skin ulcer, Atypical scarring of ... |
ORPHA:90186 |
Orthostatic Hypotensive Disorder, Streeten Type |
|
Bruising susceptibility, Facial erythema |
OMIM:143850 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Interstitial pn... |
ORPHA:454831 |
Takayasu Arteritis |
|
Increased inflammatory response, Subcutaneous nodule, Skin ulcer, Arthritis, Pulmonary arterial h... |
ORPHA:3287 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Small earlobe, Severe periodontitis, Scarring, Overlapping toe, Protruding... |
ORPHA:99843 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Cholangitis, Pustule, Erythema, Oligoarthritis, Furrowed ... |
OMIM:614204 |
Mulibrey Nanism |
|
Dental crowding, Single transverse palmar crease, Absent frontal sinuses, Thickened cortex of lon... |
OMIM:253250 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperhidrosis, Palmoplantar hyperker... |
OMIM:615598 |
Drug-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Erythema, Lipoatrophy, Absence of subcutaneous fat |
ORPHA:90157 |
Pycnodysostosis |
|
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi... |
ORPHA:763 |
Reticular Dysgenesis |
|
Chronic otitis media, Skin rash, Skin ulcer, Hearing impairment |
ORPHA:33355 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Macule, Skin rash, Enanthema, Pustule, Myocarditis, Erythema, Cough, Hepatitis, Thyroiditis, Dysp... |
ORPHA:139402 |
Chime Syndrome |
|
Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Erythema, Aplasia/... |
ORPHA:3474 |
Leishmaniasis |
|
Abnormal oral mucosa morphology, Skin ulcer, Rhinitis, Pallor, Abnormal oral cavity morphology, S... |
ORPHA:507 |
Specific Granule Deficiency 2 |
|
Osteopenia, Brachydactyly, Abnormal pinna morphology, Posteriorly rotated ears, Sandal gap, Conic... |
OMIM:617475 |
Rothmund-Thomson Syndrome, Type 1 |
|
Conical tooth, Osteoporosis, Hyperkeratosis, Recurrent otitis media, Cafe-au-lait spot |
OMIM:618625 |
Superficial Epidermolytic Ichthyosis |
|
Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis |
ORPHA:455 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Plantar hyperkeratosis, Hypermelanotic macule, Abnormality of the dentition, Oral mucosal blister... |
ORPHA:79397 |
Familial Cold Urticaria |
|
Pruritus, Sensorineural hearing impairment, Erythema, Urticaria, Arthritis, Conjunctivitis |
ORPHA:47045 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Fragi... |
OMIM:616295 |
Calciphylaxis |
|
Cutis marmorata, Abnormality of skin physiology, Skin ulcer, Cellulitis, Ectopic ossification |
ORPHA:280062 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Osteopenia, Recurrent skin infections, Pneumonia, Pyoderma gangrenosum, Oral ulcer, Gingivitis, R... |
ORPHA:486 |
Werner Syndrome |
|
Increased bone mineral density, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, Rocke... |
ORPHA:902 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress, Limitation of joint mobility |
ORPHA:2680 |
Auriculocondylar Syndrome |
|
Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, M... |
ORPHA:137888 |
Proteus Syndrome |
|
Thin bony cortex, Epidermal nevus, Facial hyperostosis, Hyperkeratosis, Multiple lipomas, Calvari... |
OMIM:176920 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Sacral dimple, Posteriorly rotated ears, Single transverse palmar crease, Cleft palate, Thin verm... |
OMIM:615502 |
Mycosis Fungoides |
|
Psoriasiform dermatitis, Eczema, Pruritus, Erythema, Skin plaque |
OMIM:254400 |
Infantile Myofibromatosis |
|
Subcutaneous nodule, Bone cyst, Gingival fibromatosis, Skin ulcer, Osteolysis, Limitation of join... |
ORPHA:2591 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
Chronic Granulomatous Disease |
|
Macule, Sinusitis, Hypermelanotic macule, Eczema, Chronic pulmonary obstruction, Skin ulcer, Ging... |
ORPHA:379 |
Immunoglobulin A Vasculitis |
|
Macule, Episcleritis, Skin rash, Pustule, Orchitis, Angioedema, Erythema, Vascular skin abnormali... |
ORPHA:761 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Hypermelanotic macule, Scarring, Delayed eruption of primary teeth, Hearin... |
ORPHA:90322 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of the dentition, Skin ulcer, Protruding ear, Hyperkeratosis, Keratoconjunctivitis si... |
ORPHA:1806 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Joint laxity, Thin upper lip vermilion, Exaggerated cupid's bow, Posteriorly rotated ears, Tapere... |
OMIM:619293 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis, Fragile skin |
OMIM:615028 |
Familial Multiple Nevi Flammei |
|
Hypermelanotic macule, Pulmonary embolism, Skin ulcer, Abnormality of the upper limb, Nevus flamm... |
ORPHA:624 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Buerger Disease |
|
Acrocyanosis, Skin ulcer |
ORPHA:36258 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Acral Self-Healing Collodion Baby |
|
Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Erythema, Lack of skin elasticity |
ORPHA:281127 |
Kindler Epidermolysis Bullosa |
|
Flexion contracture, Gingivitis, Inflammation of the large intestine, Colitis, Periodontitis, Con... |
ORPHA:2908 |
Rheumatic Fever |
|
Macule, Pericarditis, Sinusitis, Epistaxis, Myocarditis, Erythema, Subcutaneous nodule, Endocardi... |
ORPHA:3099 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Pruritus, Erythema, Rheumatoid arthritis, Papule |
ORPHA:79099 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Osteopenia, Sensorineural hearing impairment, Atrophic scars, Hernia, Follicular hyperkeratosis, ... |
ORPHA:300179 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis... |
ORPHA:1515 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Short metacarpal, Osteoporosis, Short metatarsal, Enamel hypoplasia, B... |
OMIM:612463 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Micrognathia, Wide mouth, Widely spaced teeth, Clinodactyly, Macrotia |
OMIM:300934 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Flared ... |
ORPHA:1423 |
Juvenile Dermatomyositis |
|
Myositis, Pericarditis, Skin rash, Telangiectasia of the skin, Pruritus, Dyspnea, Erythema, Limit... |
ORPHA:93672 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis, Atrophic scars |
OMIM:131850 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Micrognathi... |
ORPHA:1143 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Clinodactyly of the 5th finger, Abnormal dental enamel mor... |
ORPHA:1077 |
Filippi Syndrome |
|
Single transverse palmar crease, 2-4 toe syndactyly, Cutaneous syndactyly, Finger clinodactyly, T... |
OMIM:272440 |
Polyarteritis Nodosa |
|
Pericarditis, Cutis marmorata, Erythema, Subcutaneous nodule, Skin ulcer |
ORPHA:767 |
Lamellar Ichthyosis |
|
Abnormality of the dentition, Pruritus, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Ever... |
ORPHA:313 |
Acrootoocular Syndrome |
|
Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, High, narrow palate, Cond... |
ORPHA:2980 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Scarring, Thickened skin, Hyperkeratosis, Skin erosion, Skin plaque, Papule |
OMIM:247100 |
Adult-Onset Still Disease |
|
Pericarditis, Skin rash, Pruritus, Cartilage destruction, Myocarditis, Erythema, Hepatitis, Arthr... |
ORPHA:829 |
Fusariosis |
|
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Pro... |
ORPHA:228119 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Patellar hypoplasia, Facial erythema, High palate, Microdontia, Short phalanx of fing... |
ORPHA:221016 |
Familial Keratoacanthoma |
|
Papule, Hyperkeratosis, Subcutaneous nodule, Skin ulcer |
ORPHA:493 |
Familial Tumoral Calcinosis |
|
Skin rash, Abnormality of the dentition, Abnormality of the gingiva, Erythema, Subcutaneous nodul... |
ORPHA:53715 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia, Abnormal pinna morphology, Joint stiffness |
ORPHA:2871 |
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema |
|
Erythema migrans |
OMIM:609352 |
Erythema Palmare Hereditarium |
|
Erythema |
OMIM:133000 |
Benign Chronic Pemphigus |
|
Erythema |
OMIM:169600 |
Annular Erythema |
|
Erythema |
OMIM:106500 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Cleft palate, Respiratory insufficiency, Restricti... |
OMIM:614399 |
Free Sialic Acid Storage Disease |
|
Abnormality of the upper limb, Skin ulcer, Reduced bone mineral density |
ORPHA:834 |
Systemic Sclerosis |
|
Flexion contracture, Acral ulceration, Digital pitting scar, Thickened skin, Digital ulcer, Finge... |
ORPHA:90291 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Preauricular pit, Syndactyly, Accessory oral frenulum, Hyperpigmented papule, Flexion contracture... |
ORPHA:88630 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Autoamputation of digits, Osteomyelitis, Acral ulceration, Osteolytic defects of the phalanges of... |
OMIM:613115 |
Bone Marrow Failure Syndrome 3 |
|
Metaphyseal dysplasia, Eczema, Hearing impairment, Micrognathia, Cupped ear, Oral ulcer, Reduced ... |
OMIM:617052 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Aplasia cutis congenita on trunk or limbs, Recurrent skin infections, Scarring, Craniosynostosis,... |
ORPHA:79396 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Poor wound healing, Urinary bladder inflammation, Dyspnea, Erythema, Flexion contractu... |
ORPHA:99921 |
Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Periostitis, Osteomyelitis, Skin ulcer |
ORPHA:2218 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Lack of f... |
ORPHA:90156 |
Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Subcutaneous nodule, Hernia, Ma... |
ORPHA:2092 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Recurrent fractures, Bowing of the legs, Carious teeth, Subperiosteal ... |
OMIM:277440 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Metaphyseal dysplasia, Posteriorly rotated ears, Osteoporosis, Diaphyseal dysplasia... |
OMIM:614727 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D... |
OMIM:605282 |
Snakebite Envenomation |
|
Epistaxis, Localized skin lesion, Erythema, Angioedema, Respiratory failure, Respiratory paralysi... |
ORPHA:449285 |
Bullous Pemphigoid |
|
Macule, Psoriasiform dermatitis, Eczema, Erythema, Urticaria |
ORPHA:703 |
Braddock-Carey Syndrome 1 |
|
Posteriorly rotated ears, Clinodactyly, Pierre-Robin sequence, Small hand, Cleft palate, Everted ... |
OMIM:619980 |
Primary Erythromelalgia |
|
Pruritus, Erythema |
ORPHA:90026 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Hypergranulosis, Verrucous papule, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthoke... |
ORPHA:79501 |
Bathing Suit Ichthyosis |
|
Parakeratosis, Multiple joint contractures, Autoamputation of digits, Thickened skin, Palmoplanta... |
ORPHA:100976 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Joint laxity, Reduced forced vital capacity, Respiratory insufficiency due to muscle weakness, Hi... |
OMIM:617066 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Pyoderma gangrenosum, Bronchiectasis, Recurrent aphthous stomatitis, Chronic... |
OMIM:150550 |
Warburg-Cinotti Syndrome |
|
Hypoplasia of the ear cartilage, Dental crowding, Posteriorly rotated ears, Ankle flexion contrac... |
OMIM:618175 |
Attenuated Chédiak-Higashi Syndrome |
|
Epistaxis, Bruising susceptibility, Gingival bleeding, Skin ulcer |
ORPHA:352723 |
Orofaciodigital Syndrome Type 2 |
|
Apnea, Micrognathia, Tachypnea, Protruding ear, Finger clinodactyly, High palate, Conductive hear... |
ORPHA:2751 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Postaxial polydactyly, Retrognathia, Hyperkeratosis, Inflammation of the large intestine, Enamel ... |
OMIM:614576 |
Lowry-Maclean Syndrome |
|
Osteopenia, Inguinal hernia, Single transverse palmar crease, Congenital diaphragmatic hernia, Mi... |
ORPHA:2409 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Acantholysis, Atypical scarring of skin, Urticaria, Abnorm... |
ORPHA:704 |
Hamamy Syndrome |
|
Osteopenia, Micrognathia, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Tape... |
OMIM:611174 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Autoamputation of digits, Distal upper limb muscle weakness, Osteomyelitis, Skin ulcer |
OMIM:613640 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis |
OMIM:104100 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Macular hyperpigmented dermopathy, Scarring alopecia of scalp, Dental enamel pits |
OMIM:619787 |
Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Broad ... |
OMIM:300602 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna... |
OMIM:613849 |
Warty Dyskeratoma |
|
Acrokeratosis, Abnormality of the alveolar ridges, Umbilicated nodule, Skin-colored papule, Acant... |
ORPHA:69745 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Natal tooth, Sandal gap, Acantholysis, Aplasia cutis congenita, Widely spaced toes, M... |
OMIM:609638 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Acantholysis, Palmoplantar hyperkeratosis, Tooth agenesis, Clubbing of fingers, Palmoplantar scal... |
OMIM:605676 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Abnormality of the dentition, Conductive hearing impairment, Sensorineural... |
ORPHA:557003 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... |
ORPHA:199306 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Trichothiodystrophy |
|
Osteopenia, Congenital exfoliative erythroderma, Multiple joint contractures, High, narrow palate... |
ORPHA:33364 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Dry skin, Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth |
ORPHA:248 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Myositis, Skin rash, Cutis marmorata, Joint stiffness, Pustule, Erythema, Tachypnea, Livedo retic... |
OMIM:615934 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Selective tooth agenesis, Reduced bone mineral density, Microdontia, Hypoplasia of th... |
ORPHA:2909 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Her... |
ORPHA:955 |
Mycetoma |
|
Recurrent bacterial skin infections, Prominent superficial veins, Osteomyelitis, Abnormality of t... |
ORPHA:2583 |
Pgm3-Cdg |
|
Mild neurosensory hearing impairment, Membranoproliferative glomerulonephritis, Recurrent skin in... |
ORPHA:443811 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Tongue fasciculations, Respiratory insufficiency, Increased connective tissue |
ORPHA:238329 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Neonatal respiratory distress, Apnea, Limited hip extension, Erythema, Flexion contracture, Corne... |
OMIM:614653 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Scaling skin, Fragile skin, Palmoplantar keratoderma |
OMIM:146590 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
Hypotrichosis Simplex Of The Scalp |
|
Parakeratosis, Allergic rhinitis, Abnormality of the dentition, Pruritus, Atopic dermatitis, Hype... |
ORPHA:90368 |
Bazex Syndrome |
|
Parakeratosis, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosis nigri... |
ORPHA:166113 |
Autosomal Erythropoietic Protoporphyria |
|
Pruritus, Cutaneous photosensitivity, Erythema, Eczema |
ORPHA:79278 |
Epidermolytic Palmoplantar Keratoderma |
|
Interphalangeal joint contracture of finger, Hypergranulosis, Epidermal hyperkeratosis, Diffuse p... |
ORPHA:2199 |
Pemphigus Erythematosus |
|
Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,... |
ORPHA:79480 |
Seckel Syndrome 5 |
|
Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Low-s... |
OMIM:613823 |
Xeroderma Pigmentosum |
|
Macule, Craniofacial hyperostosis, Conjunctival telangiectasia, Telangiectasia of the skin, Hyper... |
ORPHA:910 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Posteriorly ... |
ORPHA:2759 |
Acrodermatitis Enteropathica |
|
Pustule, Erythema, Abnormality of the tongue, Skin ulcer, Furrowed tongue, Cheilitis, Conjunctivi... |
ORPHA:37 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Lipoatrophy, Micrognathia, Skin dimple, Thin vermilion border, Short philtr... |
ORPHA:261304 |
Bardet-Biedl Syndrome 16 |
|
Recurrent otitis media, Polydactyly, Respiratory distress, Hearing impairment |
OMIM:615993 |
Otodental Syndrome |
|
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Abnormal dental ename... |
ORPHA:2791 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra... |
OMIM:151050 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Scarring alopecia of scalp, Sensorineural hearing impairment, Palmoplantar hyperkeratosis, Hyperk... |
OMIM:602540 |
Relapsing Polychondritis |
|
Uveitis, Conjunctivitis, Cough, Chondritis, Macule, Hepatitis, Scleritis, Abnormal pattern of res... |
ORPHA:728 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Stomatitis, Emphysema, Facial erythema |
OMIM:618307 |
48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Inguinal hernia, Apnea, Abnormal dental enamel morphology, ... |
ORPHA:10 |
Lipoid Proteinosis |
|
Acne, Abnormal oral mucosa morphology, Scarring, Pustule, Thickened skin, Abnormality of the ging... |
ORPHA:530 |
Dominant Beta-Thalassemia |
|
Bowing of the long bones, Abnormality of the dentition, Malar prominence, Dyspnea, Jaundice, Oste... |
ORPHA:231226 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Respiratory distress, Bowing of the long bones, Micromelia, Coxa valga... |
ORPHA:166272 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Peritonitis, Erythema, Limitation of joint mobility, Urticaria, Arthritis, Recurrent aphthous sto... |
ORPHA:343 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Increased bone mineral density, Periapical tooth abscess, Enamel hypominerali... |
ORPHA:3352 |
Scarf Syndrome |
|
Low-set, posteriorly rotated ears, Inguinal hernia, Craniosynostosis, Cutis laxa, Joint hyperflex... |
ORPHA:3134 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Livedo, Telangiectasia, Conical incisor, Facial telangiectasia, Enamel hypoplasia |
OMIM:614564 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Erythroderma, Ichthyosis, Pa... |
ORPHA:2897 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation... |
ORPHA:556 |
Xeroderma Pigmentosum, Complementation Group F |
|
Erythema, Flexion contracture, Cutaneous photosensitivity, Papule, Hearing impairment |
OMIM:278760 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia |
OMIM:254120 |
Granulomatous Slack Skin |
|
Erythema, Redundant skin, Cutis laxa |
ORPHA:33111 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Respiratory distress, Short metacarpal, Brachydactyly, Micromelia, Met... |
OMIM:184260 |
Seckel Syndrome 1 |
|
Dental crowding, Selective tooth agenesis, Abnormal pinna morphology, Micrognathia, Single transv... |
OMIM:210600 |
Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia... |
OMIM:212780 |
Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Cutis marmorata, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Petechiae, P... |
ORPHA:91138 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious... |
OMIM:617102 |
Tularemia |
|
Respiratory distress, Skin rash, Pneumonia, Erythema nodosum, Localized skin lesion, Oral ulcer, ... |
ORPHA:3392 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Patellar hypoplasia, Facial erythema, Microdontia, Short phalanx of finger, Genu varu... |
ORPHA:221008 |
Blau Syndrome |
|
Pericarditis, Skin rash, Camptodactyly of finger, Erythema nodosum, Retrobulbar optic neuritis, K... |
ORPHA:90340 |
Harlequin Ichthyosis |
|
Limitation of joint mobility, Respiratory insufficiency, Hyperkeratosis, Congenital ichthyosiform... |
ORPHA:457 |
Toxic Epidermal Necrolysis |
|
Macule, Respiratory distress, Acantholysis, Erythema, Skin ulcer, Restrictive ventilatory defect,... |
ORPHA:537 |
Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Flexion contracture, Ichthyosis |
OMIM:270200 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle pha... |
OMIM:119600 |
Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Cutaneous photosensitivity, A... |
ORPHA:163525 |
Poikiloderma With Neutropenia |
|
Joint laxity, Plantar hyperkeratosis, Skin rash, Micrognathia, Carious teeth, Joint stiffness, Re... |
OMIM:604173 |
Immunodeficiency 23 |
|
Membranoproliferative glomerulonephritis, Eczema, Allergic rhinitis, Sensorineural hearing impair... |
OMIM:615816 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Oral mucosal blisters, Flexion contracture, Fragile skin, Corneal scarring, Atrophic scars, Conju... |
OMIM:226600 |
Costello Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal dental enamel morphology, Redundant skin, Abnormality... |
ORPHA:3071 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Bow... |
OMIM:301014 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Joint hypermobility, Joint stiffness, Tracheobronchomalacia, Pierre-Robin sequen... |
OMIM:619184 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Enamel hypoplasia, Retrognathia, High palate |
OMIM:617915 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Abnormal pinna morphology, Acantholysis, 4-5 finger syndactyly, 2-3 finger syndactyl... |
ORPHA:158687 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Epistaxis, Keratitis, Dyspnea, Chronic pulmonary obstruction, Skin ulcer, Urti... |
ORPHA:906 |
Acquired Purpura Fulminans |
|
Macule, Erythematous macule, Skin rash, Pyoderma gangrenosum, Macular purpura, Acrocyanosis |
ORPHA:49566 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Craniosynostosis, Palmoplantar cutis gyrata, Subcutaneous nodule, Aplasia/H... |
ORPHA:1555 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption... |
OMIM:264700 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Protoporphyria, Erythropoietic, 1 |
|
Pruritus, Erythema, Eczema |
OMIM:177000 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Raine Syndrome |
|
Mandibular prognathia, Micromelia, Micrognathia, Protruding ear, High palate, Microdontia, Long h... |
OMIM:259775 |
Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Pruritus, Neonatal asphyxia, Asthma, Dermatographic urticaria, Generalized ich... |
OMIM:608649 |
Leopard Syndrome 3 |
|
Few cafe-au-lait spots, Numerous nevi, Posteriorly rotated ears, Epidermal hyperkeratosis, Sensor... |
OMIM:613707 |
Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Macrotia, Maxi... |
ORPHA:1193 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Sensorineural hearing impairment, Osteoporosis, Short philtrum, Dentin... |
ORPHA:71267 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
17Q11.2 Microduplication Syndrome |
|
Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology |
ORPHA:139474 |
Moebius Syndrome |
|
Respiratory distress, Syndactyly, Brachydactyly, Abnormal pinna morphology, Micrognathia, Abnorma... |
OMIM:157900 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Downturned corners of mouth, Enamel hypoplasia, Brachydactyly |
ORPHA:2643 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma, Conical primary incisor, Blephar... |
OMIM:602400 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Darier-White Disease |
|
Acrokeratosis, Hypermelanotic macule, Acantholysis, Palmar pits, Pruritus, Plantar pits, Enlargem... |
OMIM:124200 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp... |
OMIM:618727 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Fifth finger distal phalanx clinodactyly, Micrognathi... |
OMIM:257850 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Foot osteomyelitis, Osteomyelitis, Sensorineural hearing impairment, Acral ulceration, Tongue fas... |
OMIM:162400 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Oral mucosal blisters, Fragile skin, Atrophic scars, A... |
OMIM:226730 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Respiratory distress, Osteomyelitis, Skin rash, Pustule, Periostitis, Osteolysis, Hyp... |
OMIM:612852 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Posteriorly rotated ears, Sandal gap, Joint hypermobility, Carious tee... |
OMIM:619229 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Skin tags, Conical tooth, Micrognathia, Anteverted ears, Aplasia of the inner ear, Widely spaced ... |
OMIM:610706 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Conical incisor, Oligodontia, Cutaneous finger syndactyly, Short palm, Conductive hearing impairm... |
OMIM:235510 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Low-set ears, Umbil... |
OMIM:618205 |
Schopf-Schulz-Passarge Syndrome |
|
Hyperkeratosis, Ectodermal dysplasia, Palmoplantar keratoderma, Hypodontia, Dry skin |
OMIM:224750 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Single transverse palmar crease, Adducted thumb, Notched primary central incisor, Low-set ears, B... |
OMIM:620062 |
Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Pyoderma gangrenosum, Panniculitis, Cystic acne, Acne inversa |
OMIM:608068 |
Livedoid Vasculopathy |
|
Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Cutis marmora... |
ORPHA:542643 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hearing impairment |
OMIM:618349 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Aplasia/Hyp... |
ORPHA:1782 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Absent brainstem auditory responses, Foot joint contracture, Hypermelanoti... |
ORPHA:90321 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Jaundice, Osteoporosis, Skin ulcer, Reduced bone mineral density, Increased susceptib... |
ORPHA:231222 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short metacarpal, Short toe, Osteoporosis, Short metatarsal, Subcutane... |
OMIM:103580 |
Bloom Syndrome |
|
Syndactyly, Spotty hypopigmentation, Agenesis of maxillary lateral incisor, Facial erythema, Mala... |
OMIM:210900 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Erythematous plaque, Parakeratosis, Superficial dermal perivascular inflammatory infilt... |
OMIM:618531 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening... |
ORPHA:536467 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Eczema, Camptodactyly, Pulmonary arterial hyperte... |
OMIM:619751 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Oral ulcer, Uveitis, Skin ulcer, Respiratory insufficiency, C... |
OMIM:608710 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi... |
OMIM:618729 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Everted upper lip vermilion, Apnea, Micrognathia, Hyperkeratosis, Ichthyosi... |
OMIM:608013 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Brachydactyly, Abnormal dental enamel morph... |
ORPHA:1005 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Cli... |
ORPHA:1452 |
Neuropathy, Hereditary Sensory, Type If |
|
Hallux valgus, Osteomyelitis, Osteolytic defects of the phalanges of the hand, Hyperkeratosis, Me... |
OMIM:615632 |
Dermatomyositis |
|
Pericarditis, Aplasia/Hypoplasia of the skin, Telangiectasia of the skin, Pruritus, Myocarditis, ... |
ORPHA:221 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Micrognathia |
OMIM:300580 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Abnormal dental morphology, Eczema, Abnormality of the dentition, Hypoplasia of the ma... |
ORPHA:238468 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress, Achilles tendon contracture, Sensorineural hearing impairment, Shoulder gir... |
ORPHA:2596 |
Beta-Thalassemia Major |
|
Bowing of the long bones, Abnormality of the dentition, Malar prominence, Dyspnea, Jaundice, Oste... |
ORPHA:231214 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition |
OMIM:125440 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Scaling skin |
OMIM:617115 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... |
OMIM:619795 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Ectopi... |
ORPHA:2919 |
Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormality of the dentition, Skin... |
ORPHA:978 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Pallor |
OMIM:613561 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Reduced vital capacity, Hand muscle weak... |
ORPHA:99956 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Protruding ear, ... |
ORPHA:534 |
Osteogenesis Imperfecta, Type V |
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Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Hyperextensibility at e... |
OMIM:610967 |
Spondylocarpotarsal Synostosis Syndrome |
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Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Scapular winging, Short metacarpal, ... |
OMIM:272460 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Prominent superficial veins, Decreased adipose tiss... |
OMIM:608612 |
Recessive X-Linked Ichthyosis |
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Hyperkeratosis, Dry skin, Ichthyosis |
ORPHA:461 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Distal symphalangism, Ulnar bow... |
OMIM:210720 |
Granulomatosis With Polyangiitis |
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Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Cough, Sensorineu... |
ORPHA:900 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
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Arachnodactyly, Camptodactyly of finger, Carious teeth, Sensorineural hearing impairment, Hyperke... |
ORPHA:1883 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Delayed eruption of teeth, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ... |
ORPHA:289157 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
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Joint laxity, Multiple joint contractures, Respiratory insufficiency due to muscle weakness, High... |
ORPHA:486815 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
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Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Prolonged neonatal jaundice,... |
ORPHA:226313 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
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Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,... |
ORPHA:3253 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Osteopenia, Erosion of oral mucosa, Foot joint contracture, Recurrent skin infections, Glomerulon... |
ORPHA:79408 |
Pseudohypoparathyroidism Type 1C |
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Delayed eruption of teeth, Increased bone mineral density, Short metacarpal, Osteoma cutis, Short... |
ORPHA:79444 |
Giant Cell Arteritis |
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Pericarditis, Epistaxis, Joint stiffness, Skin ulcer, Arthritis, Cough, Conductive hearing impair... |
ORPHA:397 |
Arthrogryposis And Ectodermal Dysplasia |
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Abnormal dental enamel morphology, Cleft upper lip, Orofacial cleft, Cleft palate, Atypical scarr... |
OMIM:601701 |
Dentinogenesis Imperfecta, Shields Type Iii |
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Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
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Perianal erythema, Pustule, Perioral erythema, Erythroderma, Blepharitis |
OMIM:614328 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
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Erythema, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, Cellulitis |
OMIM:614878 |
Subcorneal Pustular Dermatosis |
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Pruritus, Erythema, Rheumatoid arthritis, Pustule |
ORPHA:48377 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
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Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h... |
OMIM:620011 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
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Panniculitis, Erythematous plaque, Erythematous papule, Skin ulcer |
ORPHA:86884 |
Gaucher Disease Type 2 |
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Respiratory distress, Flexion contracture, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Respiratory distress, Erosion of oral mucosa, Recurrent skin infections, Abnormal oral mucosa mor... |
ORPHA:79404 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Urticarial plaque, Skin rash, Eczema, Cutis marmorata, Erythema nodosum, Aphthous ulcer, Oral ulc... |
OMIM:615688 |
Kniest Dysplasia |
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Respiratory distress, Hip contracture, Inguinal hernia, Rhizomelia, Tracheomalacia, Dumbbell-shap... |
OMIM:156550 |
Scarf Syndrome |
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Inguinal hernia, Posteriorly rotated ears, Coronal craniosynostosis, Cutis laxa, Low-set ears, Lo... |
OMIM:312830 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
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Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Pseudohypoparathyroidism Type 1A |
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Delayed eruption of teeth, Increased bone mineral density, Short metacarpal, Osteoma cutis, Short... |
ORPHA:79443 |
Marshall Syndrome |
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Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
Catastrophic Antiphospholipid Syndrome |
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Cutis marmorata, Pulmonary embolism, Myocarditis, Skin ulcer, Arthritis, Pulmonary arterial hyper... |
ORPHA:464343 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
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Abnormal dental enamel morphology, Scarring alopecia of scalp, Jaundice, Oligodontia, Hypodontia,... |
ORPHA:59303 |
Oculodentodigital Dysplasia |
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Abnormal pinna morphology, Selective tooth agenesis, Cleft upper lip, Carious teeth, Conductive h... |
OMIM:164200 |
Hypoglossia With Situs Inversus |
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Respiratory distress, Micrognathia, Upper airway obstruction, High palate, Hypodontia, Low-set ea... |
OMIM:612776 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
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Autoamputation of digits, Hypogeusia, Osteolytic defects of the phalanges of the hand, Foot acroo... |
OMIM:201300 |
Premature Aging Syndrome, Penttinen Type |
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Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Tibial bowing, Short palm, ... |
OMIM:601812 |
Atypical Werner Syndrome |
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Sclerosis of hand bone, Micrognathia, Reduced bone mineral density, Finger clinodactyly, Prematur... |
ORPHA:79474 |
Osteogenesis Imperfecta, Type Xiii |
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Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist... |
OMIM:614856 |
Beare-Stevenson Cutis Gyrata Syndrome |
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Skin tags, Preauricular pit, Natal tooth, Redundant neck skin, Posteriorly rotated ears, Respirat... |
OMIM:123790 |
Cohen Syndrome |