Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Facial erythema, Pruritis on hand, Palmoplantar erythema, Striae distensae, Skin vesicle, Urticar... |
ORPHA:64745 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Mitten deformity, Enamel hypoplasia, Skin vesicle, Hyperkeratotic papule, Localized skin lesion, ... |
ORPHA:79410 |
Porokeratosis Plantaris Palmaris Et Disseminata |
|
Abnormal skin morphology of the palm, Hyperkeratotic papule, Annular cutaneous lesion, Porokerato... |
ORPHA:737 |
Chilblain Lupus |
|
Finger swelling, Malar rash, Pruritis on hand, Inflammatory abnormality of the skin, Asthma, Skin... |
ORPHA:90280 |
Mal De Meleda |
|
Flexion contracture, Ichthyosis, Inflammatory abnormality of the skin, Lichenoid skin lesion, Non... |
ORPHA:87503 |
Dowling-Degos Disease |
|
Palmar pits, Skin vesicle, Hyperkeratotic papule, Hyperpigmented papule, Digital pitting scar, Ep... |
ORPHA:79145 |
Darier Disease |
|
Skin vesicle, Thickened skin, Pruritus, Plantar pits, Acrokeratosis, Macule, Hypermelanotic macul... |
ORPHA:218 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Skin ulcer, Papule, Diffuse palmoplantar hyperkeratosis, Erythema, Pruritus |
ORPHA:2337 |
Pemphigus Foliaceus |
|
Skin vesicle, Oral ulcer, Pruritus, Crusting erythematous dermatitis, Erythematous plaque, Annula... |
ORPHA:79481 |
Ulerythema Ophryogenesis |
|
Facial erythema, Dermal atrophy, Hyperkeratotic papule, Contact dermatitis, Erythematous papule, ... |
ORPHA:3406 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Gingivitis, Skin vesicle, Osteomyelitis, Recurrent fractures, Delayed eruption of teeth, Cellulit... |
ORPHA:2314 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Generalized ichthyosis, Sensorineural hearing impairment, Orthokeratosis, Palmoplantar hyperkerat... |
ORPHA:79395 |
Acquired Ichthyosis |
|
Ichthyosis, Pruritus, Papule, Hyperkeratosis, Erythema, Recurrent skin infections, Palmoplantar k... |
ORPHA:454 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Skin vesicle, Erythema migrans, Palmoplantar hyperkeratosis, Parakeratosis, Oral mucosal blisters... |
ORPHA:158681 |
Cutaneous Mastocytoma |
|
Telangiectasia macularis eruptiva perstans, Darier's sign, Hyperpigmented papule, Thickened skin,... |
ORPHA:79455 |
Pemphigoid Gestationis |
|
Skin vesicle |
ORPHA:63275 |
Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Atrophic scars, Skin pit, Hypoplastic pilosebaceous units, Erythema, Peria... |
ORPHA:79100 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Skin erosion, Erythema |
ORPHA:2841 |
Erythema Elevatum Diutinum |
|
Skin vesicle, Skin nodule |
ORPHA:90000 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Annular cutaneous lesion, Skin ulcer, Atrophic scars, Skin ... |
ORPHA:542592 |
Lichen Planus Pemphigoides |
|
Conjunctivitis, Skin vesicle, Pruritus, Abnormal oral mucosa morphology, Hyperkeratosis, Blepharitis |
ORPHA:254478 |
Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis, Scaling skin, Dry skin, Pruritus, Atopic dermatitis |
OMIM:618084 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Generalized ichthyosis, Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Paraker... |
OMIM:612281 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Atopic dermatitis, Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar scaling skin, Diffu... |
ORPHA:530838 |
Iga Pemphigus |
|
Skin vesicle, Annular cutaneous lesion, Neutrophilic infiltration of the skin, Cutaneous abscess,... |
ORPHA:555905 |
Classic Mycosis Fungoides |
|
Pruritus, Skin rash, Skin ulcer, Eczema, Hypopigmented skin patches, Skin plaque, Erythema, Hyper... |
ORPHA:2584 |
Junctional Epidermolysis Bullosa Inversa |
|
Mitten deformity, Enamel hypoplasia, Localized skin lesion, Milia, Keloids, Atrophic scars, Fragi... |
ORPHA:79405 |
Prolidase Deficiency |
|
Thin skin, Cutaneous photosensitivity, Pruritus, Crusting erythematous dermatitis, Micrognathia, ... |
ORPHA:742 |
Acrokeratoelastoidosis Of Costa |
|
Palmar hyperhidrosis, Hyperkeratotic papule, Orthokeratosis, Yellow papule, Palmoplantar hyperker... |
ORPHA:38 |
Erythrokeratodermia Variabilis |
|
Cutaneous photosensitivity, Tapered finger, Skin rash, Hearing impairment, Macule, Erythema, Brac... |
ORPHA:317 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Parakeratosis, Palmar hyperline... |
OMIM:604777 |
Dracunculiasis |
|
Flexion contracture, Cellulitis, Arthritis, Skin rash, Skin ulcer, Limitation of joint mobility, ... |
ORPHA:231 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Thickened skin, Sensorineural hearing impairment, Abnormality of the tongue, Palmoplantar hyperhi... |
ORPHA:659 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Congenital bullous ichthyosiform erythroderma, Ichthyosis, Palmoplantar hyperkeratosis, Erythema |
OMIM:607602 |
Progressive Symmetric Erythrokeratodermia |
|
Skin plaque, Palmoplantar keratoderma, Erythema |
ORPHA:316 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Ichthyosis, Orthokeratosis, Erythema, Hyperkeratosis, Hypergranulosis |
OMIM:613943 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperkeratosis, Scalin... |
OMIM:617571 |
Sjögren-Larsson Syndrome |
|
Ichthyosis, Inflammatory abnormality of the eye, Hyperkeratosis, Erythema, Joint stiffness, Urtic... |
ORPHA:816 |
Dermatitis, Atopic |
|
Facial erythema, Conjunctivitis, Atopic dermatitis, Ichthyosis, Allergic rhinitis, Asthma, Eczema... |
OMIM:603165 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis, Erythema, Congenital nonbullous ichthyosiform erythr... |
OMIM:617526 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Mitten deformity, Enamel hypoplasia, Localized skin lesion, Milia, Keloids, Atrophic scars, Fragi... |
ORPHA:79406 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Mitten deformity, Enamel hypoplasia, Milia, Atrophic scars, Aplasia cutis congenita, Fragile skin... |
ORPHA:79411 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Ectodermal dysplasia, Macrotia, Congenital bullous ichthyosiform erythroderma,... |
OMIM:613576 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Palmoplantar keratoderma, Hypergranulosis, Hyperkeratosis, Erythema |
OMIM:617525 |
Juvenile Hyaline Fibromatosis |
|
Skin ulcer, Gingival fibromatosis, Papule, Progressive flexion contractures, Osteolysis, Aplasia/... |
ORPHA:2028 |
Hennekam-Beemer Syndrome |
|
Camptodactyly of finger, Respiratory insufficiency, Skin vesicle, Conductive hearing impairment, ... |
ORPHA:2135 |
Regional Odontodysplasia |
|
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... |
ORPHA:83450 |
Porokeratosis Of Mibelli |
|
Cutaneous photosensitivity, Pruritus, Porokeratosis, Aplasia/Hypoplasia of the skin, Hyperkeratosis |
ORPHA:735 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Milia, Pruritus, Spotty hypopigmentation, Plantar hyperkeratosis, Papule, Palmar hyperkeratosis, ... |
ORPHA:79399 |
Anonychia With Flexural Pigmentation |
|
Abnormal skin morphology of the palm, Macular telangiectasia, Carious teeth, Hypermelanotic macul... |
ORPHA:69125 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Orthokeratosis, Acne inversa, Short philtrum, Scarring alopecia of scalp, Eczema, Pa... |
OMIM:617337 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis, Papule |
OMIM:244850 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans, Skin ulcer, Papule, Aplasia/Hypoplasia of the skin, Pruritus |
ORPHA:409 |
Cutaneous Small Vessel Vasculitis |
|
Abnormal oral cavity morphology, Skin rash, Purpura, Cutis marmorata, Papule, Subcutaneous nodule... |
ORPHA:889 |
Dentinogenesis Imperfecta |
|
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Finger joint hypermobil... |
ORPHA:49042 |
Aquagenic Palmoplantar Keratoderma |
|
Palmoplantar hyperhidrosis, Abnormal phalangeal joint morphology of the hand, Excessive skin wrin... |
ORPHA:498359 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Cutaneous photosensitivity, Ichthyosis, Congenital bullous ichthyosiform erythroderma, Skin ulcer... |
ORPHA:312 |
Odontoonychodermal Dysplasia |
|
Palmoplantar erythema, Hypergranulosis, Orthokeratosis, Palmoplantar hyperhidrosis, Hypodontia, W... |
OMIM:257980 |
Maculopapular Cutaneous Mastocytosis |
|
Darier's sign, Dermatographic urticaria, Yellow papule, Flushing, Macule, Dyspnea, Erythema, Prur... |
ORPHA:79457 |
Dermatitis Herpetiformis |
|
Skin vesicle, Recurrent fractures, Eczema, Macule, Erythema, Pruritus, Urticaria |
ORPHA:1656 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Enamel hypoplasia, Ichthyosis, Orthokeratosis, Hypodontia, Oligodontia, Jaundice, Sclerosing chol... |
OMIM:607626 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
High palate, Recurrent fractures, Skin rash, Cutaneous abscess, Chronic mucocutaneous candidiasis... |
OMIM:147060 |
Congenital Panfollicular Nevus |
|
Verrucous papule, Hyperkeratosis, Pruritus, Skin nodule |
ORPHA:139414 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Camptodactyly of finger, Facial erythema, Sclerodactyly, Palmoplantar hyperkeratosis, Hyperkerato... |
OMIM:212360 |
Peeling Skin Syndrome 4 |
|
Ichthyosis, Orthokeratosis, Scaling skin, Hyperkeratosis, Palmoplantar keratoderma |
OMIM:607936 |
Jessner Lymphocytic Infiltration Of The Skin |
|
Cutaneous photosensitivity, Papule, Skin plaque, Erythema, Pruritus |
ORPHA:33314 |
Acral Peeling Skin Syndrome |
|
Ichthyosis, Eczema, Papule, Scaling skin, Excessive wrinkling of palmar skin, Macule, Skin erosio... |
ORPHA:263534 |
Rare Cutaneous Lupus Erythematosus |
|
Intermittent generalized erythematous papular rash, Crusting erythematous dermatitis, Scaling ski... |
ORPHA:535 |
Erosive Pustular Dermatosis Of The Scalp |
|
Pustule, Skin erosion, Scarring alopecia of scalp, Erythema |
ORPHA:222 |
Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Skin nodule, Erythema,... |
ORPHA:90160 |
Pityriasis Rubra Pilaris |
|
Orthokeratosis, Parakeratosis, Subungual hyperkeratosis, Erythematous plaque, Palmoplantar kerato... |
OMIM:173200 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Milia, Enamel hypoplasia, Atrophic scars, Aplasia cutis congenita, Scarring alopecia of scalp, Or... |
ORPHA:79402 |
Lichen Planopilaris |
|
Dermal atrophy, Pruritus, Hepatitis, Skin ulcer, Papule, Neoplasm of the oral cavity, Hypopigment... |
ORPHA:525 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Skin ulcer, Aplasia cutis congenita over the scalp vertex, Con... |
ORPHA:1114 |
Cole Disease |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypopigmented macule, Hyperkeratosis, Palmo... |
OMIM:615522 |
Chronic Mucocutaneous Candidiasis |
|
Pruritus, Hepatitis, Skin rash, Abnormal lip morphology, Skin ulcer, Papule, Cough, Erythema, Hyp... |
ORPHA:1334 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Flexion contracture, Orthokeratosis, Micrognathia, Epiphyseal stippling, 2-5 finger syndactyly, A... |
OMIM:308050 |
Dermatofibrosarcoma Protuberans |
|
Thickened skin, Skin ulcer, Subcutaneous nodule, Erythema |
ORPHA:31112 |
Chilblain Lupus 1 |
|
Chilblains, Skin ulcer, Autoamputation of digits |
OMIM:610448 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Milia, Hyperkeratosis, Palmoplantar blistering |
OMIM:131800 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Orthokeratosis, Eclabion, Congenital nonbullous ichthyosiform erythroderma, Palmar hyperlinearity... |
OMIM:615023 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Milia, Pruritus, Atrophic scars, Palmoplantar hyperkeratosis, Oral mucosal blisters, Skin erosion... |
ORPHA:89838 |
Idiopathic Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Scaling skin, Sclerode... |
ORPHA:90158 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Enamel hypoplasia, Milia, Increased connective tissue, Punctate keratitis, Scarring alopecia of s... |
OMIM:226670 |
Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Skin nodule, Vasculiti... |
ORPHA:90159 |
Acrogeria |
|
Thin skin, Small hand, Micrognathia, Skin ulcer, Aplasia/Hypoplasia of the skin, Joint hyperflexi... |
ORPHA:2500 |
Olmsted Syndrome 1 |
|
Flexion contracture, Pruritus, Orthokeratosis, Parakeratosis, Subungual hyperkeratosis, Hyperpara... |
OMIM:614594 |
Intellectual Disability And Myopathy Syndrome |
|
Incisor macrodontia, Dental malocclusion, Cafe-au-lait spot, Spotty hypopigmentation, Achilles te... |
OMIM:619719 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Poor wound healing, Osteomyelitis, Skin ulcer, Cough, Penetrating foot ulcers, Hyperkeratosis, Pa... |
ORPHA:36386 |
Familial Reactive Perforating Collagenosis |
|
Hyperkeratotic papule, Perifolliculitis, Crusting erythematous dermatitis, Inflammatory abnormali... |
ORPHA:79147 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Cutaneous photosensitivity, Hyperkeratosis, Multiple cafe-au-lait spots, Papule |
ORPHA:1336 |
Pyoderma Gangrenosum |
|
Skin vesicle, Rheumatoid arthritis, Atrophic scars, Skin ulcer, Papule, Myositis, Pustule, Inflam... |
ORPHA:48104 |
Erythema Of Acral Regions |
|
Erythema, Talipes equinovarus, Abnormality of the dentition |
OMIM:227000 |
Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Facial erythema, Angular cheilitis, Recurrent bacterial skin infections, Thickened skin, High pal... |
ORPHA:495 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Micrognat... |
ORPHA:141152 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Enamel hypoplasia, Palmar hyperhidrosis, Hypodontia, Plantar hyperkerato... |
OMIM:226650 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Pruritus, Respiratory distress, Swollen lip, Upper airway obstruction, Erythema, Tongue edema, An... |
ORPHA:100057 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis, Joint stiffness, Abnormality of the dentition |
OMIM:617756 |
Auriculocondylar Syndrome 2 |
|
Hypoplastic superior helix, Dental malocclusion, Cleft at the superior portion of the pinna, Mand... |
OMIM:614669 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Gingivitis, Ichthyosis, Asthma, Congenital nonbullous ichthyosiform erythroderma, Scaling skin, I... |
OMIM:614457 |
Quinquaud Folliculitis Decalvans |
|
Scarring, Scarring alopecia of scalp, Pustule, Erythema, Recurrent skin infections |
ORPHA:346 |
Vulvovaginal Gingival Syndrome |
|
Gingivitis, Oral ulcer, Parakeratosis, Skin erosion, Erythema, Pruritus |
ORPHA:83453 |
Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Palmoplantar keratoderma, Erythema |
OMIM:617524 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Dermal atrophy, Thin skin, Milia, Cutaneous photosensitivity, Telangiectasia, Abnormality of the ... |
ORPHA:158673 |
Acrokeratosis Verruciformis |
|
Verrucous papule, Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis |
OMIM:101900 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Facial erythema, Enamel hypoplasia, Conjunctivitis, Folliculitis, Scarring alopecia of scalp, Car... |
OMIM:612843 |
Amelogenesis Imperfecta |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... |
ORPHA:88661 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess |
OMIM:619986 |
Parana Hard Skin Syndrome |
|
Respiratory insufficiency, Thickened skin, Tapered finger, Restricted chest movement, Hyperkeratosis |
ORPHA:2812 |
Vohwinkel Syndrome, Variant Form |
|
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Hypergranul... |
OMIM:604117 |
Dentin Dysplasia, Type I |
|
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... |
OMIM:125400 |
Cutaneous Collagenous Vasculopathy |
|
Prominent superficial blood vessels, Petechiae, Skin rash, Bruising susceptibility, Macule, Eryth... |
ORPHA:280779 |
Mal De Meleda |
|
Ichthyosis, Perioral erythema, Congenital symmetrical palmoplantar keratosis, Brachydactyly |
OMIM:248300 |
Isolated Agammaglobulinemia |
|
Cellulitis, Arthritis, Skin rash, Clinodactyly of the 5th toe, Skin ulcer, Inflammatory abnormali... |
ORPHA:229717 |
Localized Junctional Epidermolysis Bullosa |
|
Mitten deformity, Enamel hypoplasia, Dental enamel pits, Milia, Aplasia cutis congenita, Scarring... |
ORPHA:251393 |
Flynn-Aird Syndrome |
|
Dermal atrophy, Increased bone density with cystic changes, Increased bone mineral density, Progr... |
OMIM:136300 |
Wells Syndrome |
|
Skin vesicle |
ORPHA:901 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Gingival recession, Ichthyosis, Pruritus, Parakeratosis, Tooth agenesis, Hyperkeratosis, Erythema... |
OMIM:615821 |
Localized Scleroderma |
|
Flexion contracture, Thickened skin, Fasciitis, Upper limb asymmetry, Short dental root, Abnormal... |
ORPHA:90289 |
Dermatoosteolysis, Kirghizian Type |
|
Oligodontia, Skin ulcer, Abnormality of the wrist, Osteolysis, Aplasia/Hypoplasia of the skin, Ab... |
ORPHA:1657 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Dermal atrophy, Skin vesicle, Papule, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morp... |
ORPHA:257 |
Otodental Dysplasia |
|
Enamel hypoplasia, Sensorineural hearing impairment, Long philtrum, Delayed eruption of teeth, Pu... |
OMIM:166750 |
Dyskeratosis Congenita |
|
Premature graying of hair, Skin ulcer, Taurodontia, Hearing impairment, Recurrent fractures, Peri... |
ORPHA:1775 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Enamel hypoplasia, Milia, Yellow-brown discoloration of the teeth, Abnormality of dental morpholo... |
ORPHA:69087 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Angular cheilitis, Skin vesicle, Follicular hyperkeratosis |
OMIM:613102 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Asthma, Skin ulcer, Recurrent sinusitis, Chronic otitis medi... |
ORPHA:217390 |
Angioma Serpiginosum |
|
Vascular skin abnormality, Macule, Erythema |
ORPHA:95429 |
Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Gingivitis, Ichthyosis, Skin ulcer, Palmoplantar hyperkeratosis, Eczema,... |
ORPHA:2907 |
Limited Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Foot joint contracture, Mucosal telangiectasiae, Joint contractu... |
ORPHA:220402 |
Familial Cold Autoinflammatory Syndrome 3 |
|
Pruritus, Dermatographic urticaria, Allergic rhinitis, Asthma, Recurrent otitis media, Hashimoto ... |
OMIM:614468 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Dermal atrophy, Milia, Pruritus, Abnormality of the elbow, Atrophic scars, Abnormality of the wri... |
ORPHA:89843 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Enamel hypoplasia, Sensorineural hearing impairment, Delayed eruption of teeth, Asthma, Hypodonti... |
OMIM:616029 |
Ramon Syndrome |
|
Conductive hearing impairment, Narrow palate, Sensorineural hearing impairment, Delayed eruption ... |
ORPHA:3019 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent skin infections, Orthokeratosis, Psoriasiform dermatitis, Erythroderma, Acantholysis, P... |
OMIM:615508 |
Vibratory Urticaria |
|
Facial erythema, Urticaria, Flushing |
OMIM:125630 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Flexion contracture, Ichthyosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, ... |
ORPHA:79503 |
Chikungunya |
|
Cutaneous photosensitivity, Skin vesicle, Pruritus, Infectious encephalitis, Petechiae, Crusting ... |
ORPHA:324625 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Mitten deformity, Enamel hypoplasia, Localized skin lesion, Milia, Atrophic scars, Fragile skin, ... |
ORPHA:79409 |
Ollier Disease |
|
Multiple enchondromatosis, Skin ulcer, Osteolysis, Subcutaneous nodule, Joint stiffness, Abnormal... |
ORPHA:296 |
Sydenham Chorea |
|
Endocarditis, Septic arthritis, Movement abnormality of the tongue, Erythema |
ORPHA:306731 |
Flynn-Aird Syndrome |
|
Dermal atrophy, Skin ulcer, Progressive sensorineural hearing impairment, Bone cyst, Carious teet... |
ORPHA:2047 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Enamel hypoplasia, Mandibular prognathia, Advanced ossification of carpal bones, High palate, Pie... |
OMIM:618363 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Pulmonary embolism, Thin skin, Subcutaneous hemorrhage, Skin ulcer, Purpura, Aplasia/Hypoplasia o... |
ORPHA:743 |
Sweet Syndrome |
|
Oligoarthritis, Skin vesicle, Pyoderma gangrenosum, Acne inversa, Skin nodule, Myositis, Pustule,... |
ORPHA:3243 |
Erythema Nodosum, Familial |
|
Erythema, Erythema nodosum |
OMIM:132990 |
Infantile Systemic Hyalinosis |
|
Camptodactyly of finger, Increased susceptibility to fractures, Thickened skin, Recurrent fractur... |
ORPHA:2176 |
48,Xyyy Syndrome |
|
Enamel hypoplasia, High palate, Long philtrum, Asthma, Thick lower lip vermilion, Radioulnar syno... |
ORPHA:99329 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteolytic defects of the phalanges of the hand, High palate, Arthritis, Palmoplantar hyperkerato... |
OMIM:259100 |
Oligodontia |
|
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... |
ORPHA:99798 |
Reynolds Syndrome |
|
Respiratory insufficiency, Sclerodactyly, Infectious encephalitis, Mucosal telangiectasiae, Arthr... |
ORPHA:779 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Microdontia, Tibial deviation of the 2nd toe, Short hallux, Radial deviation of fin... |
ORPHA:363417 |
Lethal Osteosclerotic Bone Dysplasia |
|
Retrognathia, Mandibular aplasia, Micrognathia, Gingival fibromatosis, Respiratory distress, Medi... |
ORPHA:1832 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Follicular hyperkeratosi... |
OMIM:613000 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:617574 |
Amelogenesis Imperfecta, Type Ij |
|
Enamel hypoplasia, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite |
OMIM:617297 |
Keratoderma Hereditarium Mutilans |
|
Sensorineural hearing impairment, Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Papule, Oste... |
ORPHA:494 |
Rosaï-Dorfman Disease |
|
Osteolysis, Papule, Subcutaneous nodule, Erythema |
ORPHA:158014 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Cutis laxa, Crusting erythematous dermatitis, Annular cutaneous lesion, Sk... |
ORPHA:79148 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Early cutaneous photosensitivity, Erythema, Colitis |
OMIM:219095 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Subcutaneous nodule |
ORPHA:2297 |
Pachyonychia Congenita |
|
Eruptive vellus hair cyst, Angular cheilitis, Epidermoid cyst, Natal tooth, Palmoplantar hyperhid... |
ORPHA:2309 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta |
OMIM:104530 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of dental morphology, Everted ... |
ORPHA:1028 |
Hypotrichosis 6 |
|
Pruritus, Follicular hyperkeratosis, Erythema |
OMIM:607903 |
Proliferating Trichilemmal Cyst |
|
Skin ulcer, Epidermoid cyst |
ORPHA:492 |
Corneodermatoosseous Syndrome |
|
Gingivitis, Thickened skin, Abnormal finger morphology, Abnormal metacarpal morphology, Abnormali... |
ORPHA:3194 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis |
OMIM:148600 |
Dowling-Degos Disease 2 |
|
Hypomelanotic macule, Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia, Palmoplantar hyperkeratosis |
OMIM:615328 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Ichthyosis, Eclabion, Congenital nonbullous ichthyosiform erythroderma, Palmar hyperlinearity, Hy... |
OMIM:606545 |
Keratosis Pilaris Atrophicans |
|
Papule, Erythema, Comedo |
OMIM:604093 |
Bullous Impetigo |
|
Pustule, Septic arthritis, Recurrent bacterial skin infections, Erythema |
ORPHA:36237 |
Mastocytosis, Cutaneous |
|
Telangiectasia macularis eruptiva perstans, Hypermelanotic macule, Erythema, Urticaria |
OMIM:154800 |
Prolidase Deficiency |
|
High palate, Prolonged neonatal jaundice, Petechiae, Crusting erythematous dermatitis, Asthma, Mi... |
OMIM:170100 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Pruritus, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Pyoderma gangrenosum, Bronchiectasis, Recurrent sinusitis, Chronic pulmonary ... |
OMIM:616576 |
Incontinentia Pigmenti |
|
Camptodactyly of finger, Delayed eruption of teeth, Skin ulcer, Osteolysis, Absent hand, Orofacia... |
ORPHA:464 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Flexion contracture, Short middle phalanx of the 5th finger, Cutaneous finger syndactyly, Large f... |
OMIM:203550 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Acral ulceration, Skin ulcer, Foot osteomyelitis |
ORPHA:139578 |
X-Linked Agammaglobulinemia |
|
Conjunctivitis, Osteomyelitis, Sensorineural hearing impairment, Cellulitis, Hepatitis, Arthritis... |
ORPHA:47 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Sensorineural hearing impairment, Hyperkeratosis |
ORPHA:2202 |
Chromomycosis |
|
Abnormality of the upper limb, Hyperkeratotic papule, Abnormal oral cavity morphology, Serpiginou... |
ORPHA:182 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Enamel hypoplasia, Milia, Atrophic scars, Syndactyly, Congenital localized absence of skin, Cario... |
OMIM:226700 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis, Papule |
ORPHA:315 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Conical tooth, Enamel hypoplasia, Ectodermal dysplasia, Cutaneous finger syndactyly, Widely space... |
OMIM:613573 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Facial erythema, Conjunctivitis, Folliculitis, Scarring alopecia of scalp, Keratitis, Palmoplanta... |
OMIM:308800 |
Microscopic Polyangiitis |
|
Subcutaneous hemorrhage, Arthritis, Skin rash, Skin ulcer, Cutis marmorata, Uveitis, Epistaxis, P... |
ORPHA:727 |
Porphyria Variegata |
|
Milia, Skin vesicle, Localized skin lesion, Cutaneous photosensitivity, Thickened skin, Respirato... |
ORPHA:79473 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Knee flexion contracture, Pyoderma gangrenosum, Cellulitis, Arthritis, Elbow flexion contracture,... |
OMIM:604416 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Enamel hypoplasia, Hepatitis, Palmoplantar hyperkeratosis, Carious teeth, Thick vermilion border |
ORPHA:363523 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Skin ulcer, Chronic sinusitis, Emphysema, Chronic otitis media |
OMIM:604571 |
Hall-Riggs Mental Retardation Syndrome |
|
Enamel hypoplasia, Thick lower lip vermilion, Osteoporosis, Microdontia of primary teeth, Brachyd... |
OMIM:234250 |
Auriculocondylar Syndrome |
|
Micrognathia, Bifid uvula, Question mark ear, Cleft palate, Hearing impairment, Glossoptosis, Cle... |
ORPHA:137888 |
Fixed Drug Eruption |
|
Oral ulcer, Crusting erythematous dermatitis, Stomatitis, Skin erosion, Erythema, Erythematous pl... |
ORPHA:293812 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Microdontia, Bifid uvula, Taurodontia, 2-3 toe cutaneous syndactyly, Small, conica... |
OMIM:129400 |
Rubinstein-Taybi Syndrome 2 |
|
Short 5th toe, Talon cusp, Dental malocclusion, Retrognathia, Narrow palate, High palate, Microgn... |
OMIM:613684 |
Perching Syndrome |
|
Cyanosis, High palate, Camptodactyly, Respiratory distress, Joint contracture |
OMIM:617055 |
Diffuse Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Flexion contracture, Arthritis, Skin ulcer, Osteolysis, Dyspnea,... |
ORPHA:220393 |
Keratolytic Winter Erythema |
|
Pustule, Erythema |
ORPHA:50943 |
Orthostatic Hypotensive Disorder, Streeten Type |
|
Facial erythema, Bruising susceptibility |
OMIM:143850 |
Keratolytic Winter Erythema |
|
Palmoplantar hyperhidrosis, Erythema |
OMIM:148370 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Arthritis, Skin ulcer, Limitation of joint mobility, Myositis, Pustule, Increase... |
ORPHA:69126 |
Beta-Thalassemia |
|
Respiratory insufficiency, Hepatitis, Skin ulcer, Pallor, Reduced bone mineral density |
ORPHA:848 |
Meige Disease |
|
Recurrent bacterial skin infections, Cellulitis, Cobblestone-like hyperkeratosis, Skin ulcer, Ple... |
ORPHA:90186 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Short toe, Short finger, Congenital nonbullous ichthyosiform erythroderma, Everted lower lip verm... |
OMIM:242100 |
Fountain Syndrome |
|
Sensorineural hearing impairment, Wide mouth, Thick lower lip vermilion, Abnormal metacarpal morp... |
ORPHA:3219 |
Intellectual Disability, Birk-Barel Type |
|
Incisor macrodontia, Congenital finger flexion contractures, Foot joint contracture, Sacral dimpl... |
ORPHA:166108 |
Brooke-Spiegler Syndrome |
|
Nodular changes affecting the eyelids, Abnormality of the sublingual glands, Skin ulcer, Skin nod... |
ORPHA:79493 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Takayasu Arteritis |
|
Pulmonary arterial hypertension, Arthritis, Inflammatory abnormality of the eye, Skin ulcer, Abno... |
ORPHA:3287 |
Leukocyte Adhesion Deficiency Type Ii |
|
Small earlobe, Skin vesicle, Mandibular prognathia, Narrow palate, Conductive hearing impairment,... |
ORPHA:99843 |
Drug-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Erythema, Absence of subcutaneous fat |
ORPHA:90157 |
Psoriasis 14, Pustular |
|
Oligoarthritis, Cholangitis, Parakeratosis, Pustule, Geographic tongue, Erythema, Furrowed tongue... |
OMIM:614204 |
Glutamine Deficiency, Congenital |
|
Flexion contracture, Camptodactyly, Apnea, Erythema, Neonatal respiratory distress, Thin vermilio... |
OMIM:610015 |
Mulibrey Nanism |
|
Dental malocclusion, Enamel hypoplasia, Hypoplastic frontal sinuses, Hypodontia, Nevus flammeus, ... |
OMIM:253250 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... |
ORPHA:83451 |
Leishmaniasis |
|
Abnormal oral cavity morphology, Rhinitis, Skin ulcer, Papule, Pallor, Abnormal oral mucosa morph... |
ORPHA:507 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Erythroderma, Infectious encephalitis, Hepatitis, Interstitial pneu... |
ORPHA:139402 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Hypergranulosis, Palmoplantar hyperker... |
OMIM:615598 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormality of dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Calciphylaxis |
|
Ectopic ossification, Cellulitis, Abnormality of skin physiology, Skin ulcer, Cutis marmorata |
ORPHA:280062 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Pycnodysostosis |
|
Increased bone mineral density, Micrognathia, Increased susceptibility to fractures, Carious teet... |
ORPHA:763 |
Reticular Dysgenesis |
|
Skin rash, Skin ulcer, Chronic otitis media, Hearing impairment |
ORPHA:33355 |
Specific Granule Deficiency 2 |
|
Conical tooth, Recurrent otitis media, Acanthosis nigricans, Recurrent pneumonia, Osteopenia, San... |
OMIM:617475 |
Familial Cold Urticaria |
|
Conjunctivitis, Sensorineural hearing impairment, Arthritis, Erythema, Pruritus, Urticaria |
ORPHA:47045 |
Rothmund-Thomson Syndrome, Type 1 |
|
Conical tooth, Cafe-au-lait spot, Recurrent otitis media, Hyperkeratosis, Osteoporosis |
OMIM:618625 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Milia, Cutaneous photosensitivity, Hyperkeratotic papule, Spotty hypopigmentation, Plantar hyperk... |
ORPHA:79397 |
Chime Syndrome |
|
Ichthyosis, Abnormality of the dentition, Microdontia, Abnormality of dental morphology, Skin ulc... |
ORPHA:3474 |
Superficial Epidermolytic Ichthyosis |
|
Thin skin, Ichthyosis, Erythema, Acantholysis, Palmoplantar keratoderma |
ORPHA:455 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress, Limitation of joint mobility |
ORPHA:2680 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Angular cheilitis, Pruritus, Scaling skin, Fragile skin, Punctate palmoplantar hyperkeratosis, Te... |
OMIM:616295 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Gingivitis, Oral ulcer, Rhinitis, Pyoderma gangrenosum, Recurrent aphthous stomatitis, Periodonti... |
ORPHA:486 |
Mycosis Fungoides |
|
Pruritus, Eczema, Skin plaque, Erythema, Psoriasiform dermatitis |
OMIM:254400 |
Proteus Syndrome |
|
Thin bony cortex, Multiple lipomas, Epidermal nevus, Facial hyperostosis, Lipoma, Calvarial hyper... |
OMIM:176920 |
Chronic Granulomatous Disease |
|
Gingivitis, Cutaneous photosensitivity, Inflammatory abnormality of the eye, Skin ulcer, Chronic ... |
ORPHA:379 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Enamel hypoplasia, Sensorineural hearing impairment, Amelogenesis imperfecta |
OMIM:603641 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Incisor macrodontia, Sacral dimple, Long philtrum, Single transverse palmar crease, Narrow mouth,... |
OMIM:615502 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Hypomature dental enamel |
OMIM:613211 |
Filippi Syndrome |
|
Microdontia, Abnormality of dental morphology, Hypodontia, Short philtrum, Single transverse palm... |
OMIM:272440 |
Werner Syndrome |
|
Lack of skin elasticity, Chondrocalcinosis, Small hand, Premature graying of hair, Prematurely ag... |
ORPHA:902 |
Immunoglobulin A Vasculitis |
|
Infectious encephalitis, Arthritis, Skin rash, Skin ulcer, Purpura, Bruising susceptibility, Pust... |
ORPHA:761 |
Cockayne Syndrome Type 2 |
|
Conjunctivitis, Enamel hypoplasia, Mandibular prognathia, Flexion contracture, Delayed eruption o... |
ORPHA:90322 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Dental malocclusion, Enamel hypoplasia, Flexion contracture, Tapered finger, Wide mouth, Widely s... |
OMIM:619293 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Skin ulcer, Keratoconjunctivitis sicca, Hyperkeratosis, Hearing impairment, Protruding ear, Abnor... |
ORPHA:1806 |
Rheumatic Fever |
|
Respiratory insufficiency, Endocarditis, Arthritis, Pallor, Epistaxis, Pericarditis, Macule, Sinu... |
ORPHA:3099 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Abnormality of the upper limb, Skin ulcer, Papule, Nevus flammeus, Hypermelan... |
ORPHA:624 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Fragile skin, Hyperkeratosis |
OMIM:615028 |
Acral Self-Healing Collodion Baby |
|
Lack of skin elasticity, Palmoplantar scaling skin, Erythema, Localized epidermolytic hyperkeratosis |
ORPHA:281127 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Widely-spaced incisors, Tapered finger, Oligodontia, Joint contracture of the 5th finger, Discolo... |
OMIM:601668 |
Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Gingivitis, Flexion contracture, Short 4th metacarpal, Colitis, Recurren... |
ORPHA:2908 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid arthritis, Papule, Erythema, Pruritus |
ORPHA:79099 |
Bone Marrow Failure Syndrome 3 |
|
Enamel hypoplasia, Hernia, Micrognathia, Microdontia, Hypodontia, Eczema, Joint hypermobility, Am... |
OMIM:617052 |
Buerger Disease |
|
Skin ulcer, Acrocyanosis |
ORPHA:36258 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Sensorineural hearing impairment, Hernia, Atrophic scars, Bruising susceptibility, Joint hypermob... |
ORPHA:300179 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short phalanx of finger, Toe syndactyly, Micrognathia, Clinodactyly of the 5th toe, Scapular wing... |
OMIM:170390 |
Pilodental Dysplasia With Refractive Errors |
|
Conical incisor, Hypodontia, Ectodermal dysplasia, Follicular hyperkeratosis |
OMIM:262020 |
Polyarteritis Nodosa |
|
Skin ulcer, Cutis marmorata, Pericarditis, Subcutaneous nodule, Erythema |
ORPHA:767 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Macrotia, Wide mouth, Widely spaced teeth, Micrognathia, Clinodactyly, Respiratory distress |
OMIM:300934 |
Juvenile Dermatomyositis |
|
Cutaneous photosensitivity, Mucosal telangiectasiae, Arthritis, Skin rash, Skin ulcer, Limitation... |
ORPHA:93672 |
Adult-Onset Still Disease |
|
Cartilage destruction, Hepatitis, Skin rash, Arthritis, Pericarditis, Restrictive ventilatory def... |
ORPHA:829 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Thickened skin, Scarring, Papule, Skin plaque, Skin erosion, Hyperkeratosis |
OMIM:247100 |
Dental Ankylosis |
|
Tooth agenesis, Mandibular prognathia, Clinodactyly of the 5th finger, Abnormal dental enamel mor... |
ORPHA:1077 |
Fusariosis |
|
Maculopapular exanthema, Osteomyelitis, Bronchiectasis, Productive cough, Cellulitis, Arthritis, ... |
ORPHA:228119 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Atrophic scars, Pruritus |
OMIM:131850 |
Familial Tumoral Calcinosis |
|
Gingivitis, Skin rash, Hypopigmented skin patches, Abnormal palate morphology, Hyperostosis, Peri... |
ORPHA:53715 |
Infantile Myofibromatosis |
|
Skin ulcer, Gingival fibromatosis, Limitation of joint mobility, Osteolysis, Subcutaneous nodule,... |
ORPHA:2591 |
Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Short metacarpal, Delayed eruption of teeth, Brachydactyly, Osteoporosis |
OMIM:612463 |
Familial Keratoacanthoma |
|
Hyperkeratosis, Skin ulcer, Subcutaneous nodule, Papule |
ORPHA:493 |
Lamellar Ichthyosis |
|
Lack of skin elasticity, Ichthyosis, Pruritus, Everted lower lip vermilion, Chronic otitis media,... |
ORPHA:313 |
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 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia, Joint stiffness, Abnormal pinna morphology |
ORPHA:2871 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Enamel hypoplasia, Milia, Atrophic scars, Scarring, Aplasia cutis congenita, Fragile skin, Oral m... |
ORPHA:79396 |
Chronic Graft Versus Host Disease |
|
Skin vesicle, Flexion contracture, Pneumothorax, Intermittent generalized erythematous papular ra... |
ORPHA:99921 |
Free Sialic Acid Storage Disease |
|
Abnormality of the upper limb, Skin ulcer, Reduced bone mineral density |
ORPHA:834 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Flexion contracture, Hyperpigmented papule, Preauricular pit, Clinodactyly, Camptodactyly, Osteol... |
ORPHA:88630 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Periostitis, Skin ulcer, Osteomyelitis |
ORPHA:2218 |
Systemic Sclerosis |
|
Osteolytic defects of the phalanges of the hand, Flexion contracture, Thickened skin, Abnormal ph... |
ORPHA:90291 |
Acrootoocular Syndrome |
|
Conductive hearing impairment, Delayed eruption of teeth, Grayish enamel, Micrognathia, Cutaneous... |
ORPHA:2980 |
Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Toe syndactyly, Upper limb asymmetry, Tooth agenesis, Hearing impairment... |
ORPHA:2092 |
Centrifugal Lipodystrophy |
|
Lymphadenitis, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Scaling... |
ORPHA:90156 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Knee flexion contracture, Wrist flexion contracture, Flexion contracture, Hip contracture, Microg... |
ORPHA:1143 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Aplasia Cutis-Myopia Syndrome |
|
Skin ulcer, Aplasia cutis congenita |
ORPHA:1117 |
Bullous Pemphigoid |
|
Eczema, Macule, Erythema, Psoriasiform dermatitis, Urticaria |
ORPHA:703 |
Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Respiratory insufficiency, High palate, Tongue fasciculations, Respirato... |
OMIM:614399 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis, Verrucous papule, Palmoplanta... |
ORPHA:79501 |
Braddock-Carey Syndrome 1 |
|
Enamel hypoplasia, Macrotia, Pierre-Robin sequence, Small hand, Clinodactyly, Camptodactyly, Ever... |
OMIM:619980 |
Primary Erythromelalgia |
|
Pruritus, Erythema |
ORPHA:90026 |
Snakebite Envenomation |
|
Localized skin lesion, Respiratory paralysis, Ecchymosis, Epistaxis, Gingival bleeding, Erythema,... |
ORPHA:449285 |
Ichthyosis Hystrix, Lambert Type |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis |
OMIM:146600 |
Attenuated Chédiak-Higashi Syndrome |
|
Epistaxis, Skin ulcer, Gingival bleeding, Bruising susceptibility |
ORPHA:352723 |
Warburg-Cinotti Syndrome |
|
Osteolytic defects of the phalanges of the hand, Wrist flexion contracture, Thin skin, Conductive... |
OMIM:618175 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Retrognathia, Enamel hypoplasia, Inflammation of the large intestine, Hyperkeratosis, Dry skin, P... |
OMIM:614576 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Microdontia, Hypodontia, Taurodontia, Clinodactyly of the 5th finger, Everted ... |
ORPHA:1515 |
Hamamy Syndrome |
|
Tapered finger, Micrognathia, Everted lower lip vermilion, Smooth philtrum, Recurrent fractures, ... |
OMIM:611174 |
Bathing Suit Ichthyosis |
|
Thickened skin, Ichthyosis, Multiple joint contractures, Eclabion, Palmoplantar hyperkeratosis, C... |
ORPHA:100976 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Short metacarpal, Deep philtrum, Bilateral sensorineural hearing impairment, Microdon... |
OMIM:605282 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Palmoplantar keratoderma, Epidermal hyperkeratosis, Plantar hyperkeratosis, Palmoplantar erythema |
OMIM:104100 |
Amelogenesis Imperfecta, Type Iiib |
|
Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
High palate, Follicular hyperkeratosis, Dry skin, Respiratory insufficiency due to muscle weakness |
OMIM:617066 |
Lowry-Maclean Syndrome |
|
Retrognathia, Talon cusp, Delayed eruption of primary teeth, Low-set ears, High, narrow palate, M... |
ORPHA:2409 |
Pemphigus Vulgaris |
|
Abnormal oral cavity morphology, Recurrent cutaneous abscess formation, Acantholysis, Atypical sc... |
ORPHA:704 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent aphthous stomatitis, Pyoderma gangrenosum, Chronic oral candidiasis, Bronchiectasis, Re... |
OMIM:150550 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Distal upper limb muscle weakness, Skin ulcer, Osteomyelitis, Autoamputation of digits |
OMIM:613640 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Macular hyperpigmented dermopathy, Carious teeth, Scarring alopecia of scalp |
OMIM:619787 |
Rothmund-Thomson Syndrome Type 2 |
|
Short phalanx of finger, Delayed eruption of teeth, Abnormal trabecular bone morphology, Microdon... |
ORPHA:221016 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Premature loss of primary teeth, Abnormality of dental morphology, Hypoplasia of teeth, Dry skin |
ORPHA:248 |
Warty Dyskeratoma |
|
Neoplasm of the tongue, Localized skin lesion, Abnormal hard palate morphology, Epidermal thicken... |
ORPHA:69745 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ... |
OMIM:616221 |
Lethal Recessive Chondrodysplasia |
|
Flared elbow metaphyses, Micrognathia, Respiratory distress, Generalized osteosclerosis, Macroglo... |
ORPHA:1423 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Malar rash, Telangiectasia, Skin rash, Cutis marmorata, Livedo reticularis, Pustule, Myositis, Pu... |
OMIM:615934 |
Trichothiodystrophy |
|
Ichthyosis, Multiple joint contractures, Hypoplasia of mandible relative to maxilla, Increased bo... |
ORPHA:33364 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Mitten deformity, Natal tooth, Clinodactyly of the 5th finger, Aplasia cutis congenita, Syndactyl... |
OMIM:609638 |
Autosomal Erythropoietic Protoporphyria |
|
Cutaneous photosensitivity, Pruritus, Eczema, Erythema |
ORPHA:79278 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Pgm3-Cdg |
|
Conductive hearing impairment, High palate, Osteomyelitis, Bronchiectasis, Allergic rhinitis, Ast... |
ORPHA:443811 |
Mycetoma |
|
Recurrent bacterial skin infections, Osteomyelitis, Cobblestone-like hyperkeratosis, Cutaneous cy... |
ORPHA:2583 |
Bazex Syndrome |
|
Pruritus, Parakeratosis, Scaling skin, Hyperkeratosis, Liposarcoma, Acanthosis nigricans, Lip hyp... |
ORPHA:166113 |
Osteogenesis Imperfecta, Type Xii |
|
Dentinogenesis imperfecta, High palate, Recurrent fractures, Hyperextensibility of the finger joi... |
OMIM:613849 |
Clark-Baraitser syndrome |
|
Tapered finger, Prominent median palatal raphe, Exaggerated median tongue furrow, Thick lower lip... |
OMIM:300602 |
Hypotrichosis Simplex Of The Scalp |
|
Pruritus, Allergic rhinitis, Parakeratosis, Scaling skin, Hyperkeratosis, Atopic dermatitis, Abno... |
ORPHA:90368 |
Xeroderma Pigmentosum |
|
Dermal atrophy, Thin skin, Cutaneous photosensitivity, Telangiectasia, Melanocytic nevus, Sensori... |
ORPHA:910 |
Seckel Syndrome 5 |
|
Retrognathia, Enamel hypoplasia, High palate, Selective tooth agenesis, Micrognathia, Hypodontia,... |
OMIM:613823 |
Hajdu-Cheney Syndrome |
|
Abnormal mandible morphology, Thickened skin, Micrognathia, Skin ulcer, Osteolysis, Thin vermilio... |
ORPHA:955 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Clinodact... |
ORPHA:2759 |
Peeling Skin Syndrome 2 |
|
Scaling skin, Erythema |
OMIM:609796 |
Epidermolytic Palmoplantar Keratoderma |
|
Camptodactyly, Palmoplantar hyperkeratosis, Epidermal hyperkeratosis, Clubbing, Diffuse palmoplan... |
ORPHA:2199 |
Pemphigus Erythematosus |
|
Malar rash, Oral ulcer, Localized skin lesion, Erythematous plaque, Focal dermal aplasia/hypoplas... |
ORPHA:79480 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Thin skin, Macrotia, Lipoatrophy, Micrognathia, Short philtrum, Respiratory distress, Skin dimple... |
ORPHA:261304 |
Otodental Syndrome |
|
Abnormal molar morphology, High-frequency sensorineural hearing impairment, Odontoma, Long philtr... |
ORPHA:2791 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Hand clenching, Flexion contracture, High palate, Aspiration, Corneal scarring, Apnea, Erythema, ... |
OMIM:614653 |
Cleft Lip/Palate |
|
Dental malocclusion, Conductive hearing impairment, Abnormal number of permanent teeth, Unilatera... |
ORPHA:199306 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Selective tooth agenesis, Microdo... |
ORPHA:2909 |
Bardet-Biedl Syndrome 16 |
|
Polydactyly, Hearing impairment, Respiratory distress, Recurrent otitis media |
OMIM:615993 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory insufficiency, Increased connective tissue, Tongue fasciculations, Respiratory distress |
ORPHA:238329 |
Granulomatous Slack Skin |
|
Erythema, Redundant skin, Cutis laxa |
ORPHA:33111 |
Relapsing Polychondritis |
|
Scleritis, Inflammatory abnormality of the eye, Pericarditis, Abnormal pattern of respiration, Ch... |
ORPHA:728 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Recurrent aphthous stomatitis, Arthritis, Purpura, Acrocyanosis, Limitation of joint mobility, Pa... |
ORPHA:343 |
Xeroderma Pigmentosum, Complementation Group F |
|
Cutaneous photosensitivity, Flexion contracture, Papule, Erythema, Hearing impairment |
OMIM:278760 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Enamel hypoplasia, Telangiectasia, Facial telangiectasia, Livedo, Carious teeth, Conical incisor |
OMIM:614564 |
Malakoplakia |
|
Pruritus, Inflammatory abnormality of the skin, Skin rash, Skin ulcer, Papule, Urinary bladder in... |
ORPHA:556 |
Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress, Umbilical hernia |
OMIM:254120 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sensorineural hearing impairment, Ichthyosis, Cobblestone-like hyperkeratosis, Punctate keratitis... |
OMIM:602540 |
Atkin-Flaitz Syndrome |
|
Tapered finger, Prominent median palatal raphe, Exaggerated median tongue furrow, Thick lower lip... |
OMIM:300431 |
Oculoskeletodental Syndrome |
|
Retrognathia, Enamel hypoplasia, Conductive hearing impairment, Short 5th finger, Sensorineural h... |
ORPHA:557003 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Agenesis of incisor, Enamel hypomineralization, Widely spaced teeth, Increase... |
ORPHA:3352 |
Scarf Syndrome |
|
Enamel hypoplasia, Long philtrum, Cutis laxa, Inguinal hernia, Joint hyperflexibility, Low-set, p... |
ORPHA:3134 |
Lipoid Proteinosis |
|
Thickened skin, High palate, Tongue nodules, Thick lower lip vermilion, Scarring, Papule, Pustule... |
ORPHA:530 |
Cenani-Lenz Syndactyly Syndrome |
|
Enamel hypoplasia, Hypoplasia of the radius, Micrognathia, Hypodontia, Radioulnar synostosis, Hyp... |
OMIM:212780 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Facial erythema, Stomatitis, Emphysema |
OMIM:618307 |
Acrodermatitis Enteropathica |
|
Conjunctivitis, Skin ulcer, Glossitis, Pustule, Erythema, Generalized abnormality of skin, Furrow... |
ORPHA:37 |
Skin Fragility-Woolly Hair Syndrome |
|
Palmoplantar erythema, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Fragile skin, Acan... |
OMIM:607655 |
Pityriasis Rubra Pilaris |
|
Thickened skin, Abnormal oral cavity morphology, Ichthyosis, Pruritus, Eczema, Papule, Pustule, S... |
ORPHA:2897 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Low-set ears, Joint laxity, Amelogenesis imperfecta, Malar flattening, Osteoporosis, Posteriorly ... |
OMIM:614727 |
48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Asthma, Thick lower lip vermilion, Taurodontia, Radioulnar ... |
ORPHA:10 |
Costello Syndrome |
|
Lack of skin elasticity, Narrow palate, Thick lower lip vermilion, Ulnar deviation of finger, Mac... |
ORPHA:3071 |
Wiskott-Aldrich Syndrome |
|
Conjunctivitis, Petechiae, Arthritis, Skin ulcer, Purpura, Chronic pulmonary obstruction, Bruisin... |
ORPHA:906 |
Cryoglobulinemic Vasculitis |
|
Petechiae, Arthritis, Skin ulcer, Purpura, Cutis marmorata, Keratoconjunctivitis sicca, Viral hep... |
ORPHA:91138 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Mitten deformity, Enamel hypoplasia, Milia, Flexion contracture, Conjunctivitis, Corneal scarring... |
OMIM:226600 |
Tularemia |
|
Conjunctivitis, Oral ulcer, Localized skin lesion, Erythema nodosum, Skin rash, Inflammatory abno... |
ORPHA:3392 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Humeroradial synostosis, Micrognathia, Elbow flexion contracture, Cleft palate, Hyperextensibilit... |
OMIM:151050 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Macrotia, Narrow palate, Melanocytic nevus, Aplasia/Hypoplasia of the earlobes, Thickened helices... |
ORPHA:1555 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Generalized ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperker... |
OMIM:615024 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental malocclusion, Small hand, Long philtrum, Delayed eruption of teeth, 4-5 finger syndactyly,... |
OMIM:257850 |
Immunodeficiency 23 |
|
Conductive hearing impairment, High palate, Sensorineural hearing impairment, Bronchiectasis, All... |
OMIM:615816 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Enamel hypoplasia, Tracheobronchomalacia, Pierre-Robin sequence, Hypodontia, Oligodontia, Dental ... |
OMIM:619184 |
Toxic Epidermal Necrolysis |
|
Conjunctivitis, Skin ulcer, Respiratory distress, Restrictive ventilatory defect, Cough, Macule, ... |
ORPHA:537 |
Poikiloderma With Neutropenia |
|
Retrognathia, Dermal atrophy, Conjunctivitis, Telangiectasia, Long philtrum, Micrognathia, Skin r... |
OMIM:604173 |
Protoporphyria, Erythropoietic, 1 |
|
Pruritus, Eczema, Erythema |
OMIM:177000 |
Lethal Acantholytic Erosive Disorder |
|
Respiratory failure, Natal tooth, 2-3 finger syndactyly, 4-5 finger syndactyly, Camptodactyly of ... |
ORPHA:158687 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Retrognathia, Enamel hypoplasia, High palate |
OMIM:617915 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Enamel hypoplasia, Recurrent fractures, Delayed eruption of teeth, Sparse bone ... |
OMIM:277440 |
Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Flexion contracture, Ichthyosis |
OMIM:270200 |
Acquired Purpura Fulminans |
|
Macular purpura, Pyoderma gangrenosum, Skin rash, Acrocyanosis, Macule, Erythematous macule |
ORPHA:49566 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Arthrogryposis mu... |
OMIM:254210 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Seckel Syndrome 1 |
|
Dental malocclusion, Enamel hypoplasia, High palate, Selective tooth agenesis, Micrognathia, Elbo... |
OMIM:210600 |
Harlequin Ichthyosis |
|
Respiratory insufficiency, Ichthyosis, Foot polydactyly, Hand polydactyly, Eclabion, Limitation o... |
ORPHA:457 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Atkin-Flaitz Syndrome |
|
Macrotia, Thick vermilion border, Maxillary lateral incisor microdontia, Everted lower lip vermil... |
ORPHA:1193 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Sensorineural hearing impairment, Delayed eruption of teeth, Short phi... |
ORPHA:71267 |
17Q11.2 Microduplication Syndrome |
|
Enamel hypoplasia, Malar flattening, Thin vermilion border, Abnormal dental enamel morphology |
ORPHA:139474 |
Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Downturned corners of mouth, Brachydactyly |
ORPHA:2643 |
Blau Syndrome |
|
Camptodactyly of finger, Pulmonary arterial hypertension, Ichthyosis, Erythema nodosum, Iridocycl... |
ORPHA:90340 |
Immunodeficiency 95 |
|
Respiratory failure, Respiratory distress, Recurrent viral pneumonia |
OMIM:619773 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Short philtrum, Tooth agenesis, Hearing impairm... |
ORPHA:2325 |
Ichthyosis Prematurity Syndrome |
|
Generalized ichthyosis, Pruritus, Dermatographic urticaria, Allergic rhinitis, Asthma, Erythroder... |
OMIM:608649 |
Leopard Syndrome 3 |
|
Sensorineural hearing impairment, Low-set ears, Numerous nevi, Epidermal hyperkeratosis, Multiple... |
OMIM:613707 |
Cleidocranial Dysplasia 1 |
|
Hypoplastic frontal sinuses, Short middle phalanx of the 2nd finger, Increased bone mineral densi... |
OMIM:119600 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Pruritus, Conical primary incisor, Hyperkeratosis, Congenital ichthyosiform erythroderma, Blephar... |
OMIM:602400 |
Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
Darier-White Disease |
|
Palmar pits, Plantar pits, Acrokeratosis, Acantholysis, Hypermelanotic macule, Pruritus, Enlargem... |
OMIM:124200 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Intermittent generalized erythematous papular rash, Annular cutaneous lesion, Psoriasiform lesion... |
ORPHA:284426 |
Dominant Beta-Thalassemia |
|
Jaundice, Malar prominence, Skin ulcer, Hyperplasia of the maxilla, Pallor, Dyspnea, Chronic hepa... |
ORPHA:231226 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Short metacarpal, Angel-shaped phalanx, Widely spaced teeth, Respiratory... |
OMIM:617102 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Fused cervical vertebrae, Skin rash, Respiratory distress, Stomatitis, Osteolysis,... |
OMIM:612852 |
Kohlschutter-Tonz Syndrome-Like |
|
Enamel hypoplasia, 2-3 toe syndactyly, Small hand, Widely spaced teeth, Delayed eruption of teeth... |
OMIM:619229 |
Raine Syndrome |
|
Increased bone mineral density, Micrognathia, Microdontia, Cleft palate, Gingival overgrowth, Art... |
OMIM:259775 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Enamel hypoplasia, Milia, Atrophic scars, Fragile skin, Oral mucosal blisters, Aplasia cutis cong... |
OMIM:226730 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp... |
OMIM:301200 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Neutrophilic Dermatosis, Acute Febrile |
|
Pyoderma gangrenosum, Acne inversa, Cystic acne, Panniculitis, Erythema |
OMIM:608068 |
Snijders Blok-Campeau Syndrome |
|
Enamel hypoplasia, High palate, Widely spaced teeth, Taurodontia, Joint laxity, Inguinal hernia, ... |
OMIM:618205 |
Cleidocranial Dysplasia |
|
Tapered finger, Delayed eruption of teeth, Micrognathia, Cleft palate, Glossoptosis, Hearing impa... |
ORPHA:1452 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Skin tags, Aplasia of the inner ear, Widely spaced teeth, Micrognathia, Microdonti... |
OMIM:610706 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Conical tooth, Dental malocclusion, Enamel hypoplasia, Microdontia, Oligodontia, Clinodactyly, Sc... |
OMIM:618727 |
Granulomatosis With Polyangiitis |
|
Respiratory insufficiency, Conjunctivitis, Oral ulcer, Skin ulcer, Uveitis, Rhinorrhea, Sinusitis... |
OMIM:608710 |
Livedoid Vasculopathy |
|
Macular purpura, Atrophic scars, Skin ulcer, Cutis marmorata, Ecchymosis, Superficial dermal peri... |
ORPHA:542643 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Amelogenesis imperfecta |
OMIM:616270 |
Orofaciodigital Syndrome Type 2 |
|
Conductive hearing impairment, Bifid tongue, Micrognathia, Taurodontia, Abnormal oral frenulum mo... |
ORPHA:2751 |
Moebius Syndrome |
|
Short phalanx of finger, Hand clenching, High palate, Aplasia/Hypoplasia involving the metacarpal... |
OMIM:157900 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis, Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125440 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hearing impairment |
OMIM:618349 |
Beta-Thalassemia Intermedia |
|
Pulmonary arterial hypertension, Increased susceptibility to fractures, Jaundice, Skin ulcer, Pal... |
ORPHA:231222 |
Bronchopulmonary Dysplasia |
|
Tracheobronchomalacia, Hyperoxemia, Abnormal respiratory system physiology, Respiratory distress,... |
ORPHA:70589 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Conductive hearing impairment, Delayed eruption of teeth, Camptodactyly, Pleural effusion, Smooth... |
OMIM:235510 |
Osteogenesis Imperfecta, Type Xix |
|
Dentinogenesis imperfecta, Recurrent fractures, Joint hypermobility, Multiple prenatal fractures,... |
OMIM:301014 |
Rothmund-Thomson Syndrome Type 1 |
|
Short phalanx of finger, Abnormality of the radial head, Facial erythema, Dermal atrophy, Telangi... |
ORPHA:221008 |
Oral Erosive Lichen |
|
Oral ulcer, Cheilitis, Dry skin, Erythema |
ORPHA:31142 |
Cockayne Syndrome Type 1 |
|
Conjunctivitis, Enamel hypoplasia, Foot joint contracture, Mandibular prognathia, Macrotia, Delay... |
ORPHA:90321 |
Gaucher Disease, Perinatal Lethal |
|
Retrognathia, Ichthyosis, Everted upper lip vermilion, Petechiae, Microtia, Low-set ears, Microgn... |
OMIM:608013 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis, Erythematous plaque, Pruritus, Superficial dermal perivascular inflammatory infilt... |
OMIM:618531 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Adducted thumb, Single transverse palmar crease, Brachydactyly, Low-set ears, Notched primary cen... |
OMIM:620062 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal antihelix morphology, Macrotia, Ichthyosis, Abnormality of the elbow, Finger syndactyly,... |
ORPHA:1005 |
Pseudohypoparathyroidism, Type Ia |
|
Short toe, Enamel hypoplasia, Short metacarpal, Delayed eruption of teeth, Short finger, Brachyda... |
OMIM:103580 |
Liang-Wang Syndrome |
|
Macrodontia of permanent maxillary central incisor, Wide mouth, Macroglossia, Diastema, Everted l... |
OMIM:618729 |
Dermatomyositis |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Cutaneous photosensitivity, Pruritus,... |
ORPHA:221 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Micrognathia, Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
Bloom Syndrome |
|
Facial erythema, Cutaneous photosensitivity, Malar rash, Cafe-au-lait spot, Bronchiectasis, Agene... |
OMIM:210900 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op... |
OMIM:125500 |
Heimler Syndrome 1 |
|
Enamel hypoplasia, Sensorineural hearing impairment, Amelogenesis imperfecta |
OMIM:234580 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short phalanx of finger, Dermal atrophy, Flexion contracture, High palate, Acroosteolysis of dist... |
OMIM:608612 |
Hypohidrotic Ectodermal Dysplasia |
|
Thin skin, Abnormality of dental morphology, Inflammatory abnormality of the eye, Keratoconjuncti... |
ORPHA:238468 |
Myopathy And Diabetes Mellitus |
|
Sensorineural hearing impairment, Achilles tendon contracture, Respiratory distress, Shoulder gir... |
ORPHA:2596 |
Orofaciodigital Syndrome Type 5 |
|
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... |
ORPHA:2919 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory insufficiency due to muscle weakness, Respiratory distress, Pallor |
OMIM:613561 |
Osteogenesis Imperfecta, Type V |
|
Dentinogenesis imperfecta, Anterior radial head dislocation, Hyperextensibility of the finger joi... |
OMIM:610967 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Cleft upper lip, Macrotia, Ectodermal dysplasia, Finger syndactyly, Toe syndactyly, Micrognathia,... |
ORPHA:3253 |
Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis, Dry skin |
ORPHA:461 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta, Upper limb undergrowth, Abnormal cortical bone morphology, Limitation ... |
ORPHA:166277 |
Odontochondrodysplasia 1 |
|
Short phalanx of finger, Dentinogenesis imperfecta, Long philtrum, Short metacarpal, Delayed erup... |
OMIM:184260 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Camptodactyly of finger, Sensorineural hearing impairment, Hidrotic ectodermal dysplasia, Joint c... |
ORPHA:1883 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Macroglossia, Absent ossification of capital femoral epiphysis, Prolonged n... |
ORPHA:226313 |
Adult Syndrome |
|
Thin skin, Melanocytic nevus, Finger syndactyly, Toe syndactyly, Abnormality of dental morphology... |
ORPHA:978 |
Peeling Skin Syndrome 5 |
|
Scaling skin, Hyperkeratosis |
OMIM:617115 |
Odontochondrodysplasia |
|
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth, Respiratory distress, Joint h... |
ORPHA:166272 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Respiratory insufficiency, Distal upper limb muscle weakness, Difficulty in tongue movements, Sen... |
ORPHA:99956 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Erythematous plaque, Erythematous papule, Skin ulcer, Panniculitis |
ORPHA:86884 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Camptodactyly, Respiratory distress, Eczema |
OMIM:619751 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Perianal erythema, Perioral erythema, Pustule, Erythroderma, Blepharitis |
OMIM:614328 |
Arthrogryposis And Ectodermal Dysplasia |
|
Cleft upper lip, Ectodermal dysplasia, Joint contracture of the hand, Oligodontia, Camptodactyly,... |
OMIM:601701 |
Subcorneal Pustular Dermatosis |
|
Pustule, Pruritus, Erythema, Rheumatoid arthritis |
ORPHA:48377 |
Granulomatosis With Polyangiitis |
|
Respiratory insufficiency, Abnormal oral cavity morphology, Sensorineural hearing impairment, Pro... |
ORPHA:900 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Oral ulcer, Aphthous ulcer, Urticarial plaque, Erythema nodosum, Arthritis, Skin rash, Skin ulcer... |
OMIM:615688 |
Giant Cell Arteritis |
|
Conductive hearing impairment, Arthritis, Skin ulcer, Glossitis, Epistaxis, Pericarditis, Cough, ... |
ORPHA:397 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Distal arthrogryposis, Plantar flexion contracture, High palate, Paradoxical respiration, Respira... |
OMIM:620011 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Mitten deformity, Enamel hypoplasia, Pneumothorax, Abnormal fingertip morphology, Erosion of oral... |
ORPHA:79404 |
Dysosteosclerosis |
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Recurrent fractures, Delayed eruption of teeth, Increased bone mineral density, Coarse metaphysea... |
ORPHA:1782 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Mitten deformity, Enamel hypoplasia, Foot joint contracture, Flexion contracture, Milia, Erosion ... |
ORPHA:79408 |
Scarf Syndrome |
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Enamel hypoplasia, Long philtrum, Cutis laxa, Coronal craniosynostosis, Inguinal hernia, Umbilica... |
OMIM:312830 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
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Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
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Enterocolitis, Cellulitis, Interstitial pneumonitis, Ulcerative colitis, Erythema |
OMIM:614878 |
Oculodentodigital Dysplasia |
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Enamel hypoplasia, Cleft upper lip, Conductive hearing impairment, High palate, Short middle phal... |
OMIM:164200 |
Gaucher Disease Type 2 |
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Abnormal pattern of respiration, Cough, Respiratory distress, Flexion contracture |
ORPHA:77260 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
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Ichthyosis, Hypodontia, Oligodontia, Jaundice, Scarring alopecia of scalp, Acanthosis nigricans, ... |
ORPHA:59303 |
Spondylocarpotarsal Synostosis Syndrome |
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Enamel hypoplasia, Vertebral fusion, Sensorineural hearing impairment, Capitate-hamate fusion, Sh... |
OMIM:272460 |
Hypoglossia With Situs Inversus |
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High palate, Hypodontia, Micrognathia, Respiratory distress, Upper airway obstruction, Narrow mou... |
OMIM:612776 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
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High palate, Multiple joint contractures, Joint laxity, Follicular hyperkeratosis, Dry skin, Resp... |
ORPHA:486815 |
Beare-Stevenson Cutis Gyrata Syndrome |
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Skin tags, Palmoplantar cutis laxa, Narrow palate, High palate, Natal tooth, Preauricular pit, Gi... |
OMIM:123790 |
Catastrophic Antiphospholipid Syndrome |
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Pulmonary arterial hypertension, Pulmonary embolism, Arthritis, Skin ulcer, Cutis marmorata, Myoc... |
ORPHA:464343 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Respiratory insufficiency, Hallux valgus, Multiple joint contractures, Micrognathia, Microdontia,... |
ORPHA:536467 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Thin bony cortex, Enamel hypoplasia, Recurrent fractures, Delayed eruption of teeth, Sparse bone ... |
OMIM:264700 |
Adult Polyglucosan Body Disease |
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Skin ulcer, Limitation of joint mobility |
ORPHA:206583 |
Oculocerebrofacial Syndrome, Kaufman Type |
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Retrognathia, Wide mouth, Micrognathia, Abnormal lip morphology, Microdontia, Short philtrum, Res... |
ORPHA:2707 |
Xfe Progeroid Syndrome |
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Dermal atrophy, Enamel hypoplasia, Cutaneous photosensitivity, Corneal scarring, Dry skin, Premat... |
OMIM:610965 |
Neuropathy, Hereditary Sensory, Type If |
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Osteolytic defects of the phalanges of the hand, Hyperkeratosis, Osteomyelitis, Hallux valgus |
OMIM:615632 |
Blau Syndrome |
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Camptodactyly of finger, Intermittent generalized erythematous papular rash, Erythema nodosum, Ar... |
OMIM:186580 |
Incontinentia Pigmenti |
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Conical tooth, Delayed eruption of teeth, Hypodontia, Oligodontia, Scarring, Uveitis, Pallor, Ery... |
OMIM:308300 |
Atypical Werner Syndrome |
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Osteolytic defects of the phalanges of the hand, Premature graying of hair, Increased bone minera... |
ORPHA:79474 |
Beta-Thalassemia Major |
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Jaundice, Malar prominence, Skin ulcer, Hyperplasia of the maxilla, Pallor, Dyspnea, Osteoporosis... |
ORPHA:231214 |
Tooth Agenesis, Selective, 4 |
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Thin skin, Palmoplantar hyperhidrosis, Peg-shaped maxillary lateral incisors, Agenesis of permane... |
OMIM:150400 |
Congenital Disorder Of Glycosylation, Type Ie |
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Knee flexion contracture, Upper limb undergrowth, Telangiectasia, Small hand, Micrognathia, Campt... |
OMIM:608799 |
Pseudohypoparathyroidism Type 1C |
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Broad distal phalanx of the thumb, Enamel hypoplasia, Conjunctivitis, Short 4th metacarpal, Short... |
ORPHA:79444 |
Kcnq2-Related Epileptic Encephalopathy |
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Facial erythema, Apnea, Pallor |
ORPHA:439218 |
Congenital Disorder Of Glycosylation, Type Iu |
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High palate, Micrognathia, Respiratory distress, Thin upper lip vermilion, Neonatal respiratory d... |
OMIM:615042 |
Developmental And Epileptic Encephalopathy 66 |
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Macrodontia of permanent maxillary central incisor, Wide mouth, Widely spaced teeth, Clinodactyly... |
OMIM:618067 |
Psoriasis 2 |
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Parakeratosis, Scaling skin, Hyperkeratosis, Psoriasiform dermatitis |
OMIM:602723 |
Tetrasomy 5P |
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Pulmonary arterial hypertension, Cyanosis, High palate, Long philtrum, Preauricular pit, Microgna... |
ORPHA:3309 |
Oculocerebrorenal Syndrome Of Lowe |
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Respiratory insufficiency, Gingivitis, Delayed eruption of teeth, Micrognathia, Skin ulcer, Tauro... |
ORPHA:534 |
Mandibuloacral Dysplasia |
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Thin skin, Contractures of the large joints, High palate, Acroosteolysis of distal phalanges (fee... |
ORPHA:2457 |
Developmental And Epileptic Encephalopathy 30 |
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Respiratory distress |
OMIM:616341 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
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Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... |
OMIM:605809 |
Acrokeratosis Verruciformis Of Hopf |
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