Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

laminin, gamma 2
nicein, 100kDa

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Lamc2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Lamc2 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Intermediate Generalized Junctional Epidermolysis Bullosa
Oral mucosal blisters, Scarring alopecia of scalp, Atrophic scars, Palmoplantar keratoderma, Apla... ORPHA:79402
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Erosion of oral mucosa, Recurrent skin infections, Abnormal oral mucosa mor... ORPHA:79404
Epidermolysis Bullosa, Junctional 3A, Intermediate
Oral mucosal blisters OMIM:619785
Epidermolysis Bullosa, Junctional 3B, Severe
Oral mucosal blisters OMIM:619786

The table below shows human diseases predicted to be associated to Lamc2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Recurrent bacterial skin infections, Prominent superficial veins, Osteomyelitis, Abnormality of t... ORPHA:2583
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
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
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
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
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
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
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Hyperextensibility at e... OMIM:610967
Spondylocarpotarsal Synostosis Syndrome
Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Scapular winging, Short metacarpal, ... OMIM:272460
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Prominent superficial veins, Decreased adipose tiss... OMIM:608612
Recessive X-Linked Ichthyosis
Hyperkeratosis, Dry skin, Ichthyosis ORPHA:461
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Distal symphalangism, Ulnar bow... OMIM:210720
Granulomatosis With Polyangiitis
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Cough, Sensorineu... ORPHA:900
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Arachnodactyly, Camptodactyly of finger, Carious teeth, Sensorineural hearing impairment, Hyperke... ORPHA:1883
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ... ORPHA:289157
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Joint laxity, Multiple joint contractures, Respiratory insufficiency due to muscle weakness, High... ORPHA:486815
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Prolonged neonatal jaundice,... ORPHA:226313
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,... ORPHA:3253
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Erosion of oral mucosa, Foot joint contracture, Recurrent skin infections, Glomerulon... ORPHA:79408
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Increased bone mineral density, Short metacarpal, Osteoma cutis, Short... ORPHA:79444
Giant Cell Arteritis
Pericarditis, Epistaxis, Joint stiffness, Skin ulcer, Arthritis, Cough, Conductive hearing impair... ORPHA:397
Arthrogryposis And Ectodermal Dysplasia
Abnormal dental enamel morphology, Cleft upper lip, Orofacial cleft, Cleft palate, Atypical scarr... OMIM:601701
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Pustule, Perioral erythema, Erythroderma, Blepharitis OMIM:614328
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Erythema, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, Cellulitis OMIM:614878
Subcorneal Pustular Dermatosis
Pruritus, Erythema, Rheumatoid arthritis, Pustule ORPHA:48377
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h... OMIM:620011
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Erythematous plaque, Erythematous papule, Skin ulcer ORPHA:86884
Gaucher Disease Type 2
Respiratory distress, Flexion contracture, Abnormal pattern of respiration, Cough ORPHA:77260
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Erosion of oral mucosa, Recurrent skin infections, Abnormal oral mucosa mor... ORPHA:79404
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Urticarial plaque, Skin rash, Eczema, Cutis marmorata, Erythema nodosum, Aphthous ulcer, Oral ulc... OMIM:615688
Kniest Dysplasia
Respiratory distress, Hip contracture, Inguinal hernia, Rhizomelia, Tracheomalacia, Dumbbell-shap... OMIM:156550
Scarf Syndrome
Inguinal hernia, Posteriorly rotated ears, Coronal craniosynostosis, Cutis laxa, Low-set ears, Lo... OMIM:312830
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Increased bone mineral density, Short metacarpal, Osteoma cutis, Short... ORPHA:79443
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... OMIM:154780
Catastrophic Antiphospholipid Syndrome
Cutis marmorata, Pulmonary embolism, Myocarditis, Skin ulcer, Arthritis, Pulmonary arterial hyper... ORPHA:464343
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Abnormal dental enamel morphology, Scarring alopecia of scalp, Jaundice, Oligodontia, Hypodontia,... ORPHA:59303
Oculodentodigital Dysplasia
Abnormal pinna morphology, Selective tooth agenesis, Cleft upper lip, Carious teeth, Conductive h... OMIM:164200
Hypoglossia With Situs Inversus
Respiratory distress, Micrognathia, Upper airway obstruction, High palate, Hypodontia, Low-set ea... OMIM:612776
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Autoamputation of digits, Hypogeusia, Osteolytic defects of the phalanges of the hand, Foot acroo... OMIM:201300
Premature Aging Syndrome, Penttinen Type
Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Tibial bowing, Short palm, ... OMIM:601812
Atypical Werner Syndrome
Sclerosis of hand bone, Micrognathia, Reduced bone mineral density, Finger clinodactyly, Prematur... ORPHA:79474
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist... OMIM:614856
Beare-Stevenson Cutis Gyrata Syndrome
Skin tags, Preauricular pit, Natal tooth, Redundant neck skin, Posteriorly rotated ears, Respirat... OMIM:123790
Cohen Syndrome