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
Milia, Scarring alopecia of scalp, Atrophic scars, Enamel hypoplasia, Palmoplantar keratoderma, A... ORPHA:79402
Severe Generalized Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Pyoderma, Erosion of oral mucosa, Respiratory distress, Dyspnea, O... 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
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Localized skin lesion, Milia, Erythematous papule, Atrophic scars, Fragile skin, Atypical scarrin... ORPHA:79410
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Facial erythema, Pruritus on foot, Erythematous papule, Palmar pruritus, Eczematoi... ORPHA:64745
Porokeratosis Plantaris Palmaris Et Disseminata
Generalized abnormality of skin, Annular cutaneous lesion, Abnormal skin morphology of the palm, ... ORPHA:737
Dowling-Degos Disease
Generalized abnormality of skin, Abnormality of the hand, Hypermelanotic macule, Palmar pits, Ery... ORPHA:79145
Mal De Meleda
Abnormality of the hand, Ichthyosis, Superficial dermal perivascular inflammatory infiltrate, Non... ORPHA:87503
Darier Disease
Hypermelanotic macule, Thickened skin, Macule, Acrokeratosis, Palmoplantar keratoderma, Skin vesi... ORPHA:218
Ichthyosis, Annular Epidermolytic, 1
Scaling skin, Ichthyosis, Hyperparakeratosis, Congenital bullous ichthyosiform erythroderma, Skin... OMIM:607602
Diffuse Palmoplantar Keratoderma, Bothnian Type
Skin ulcer, Erythema, Diffuse palmoplantar hyperkeratosis, Papule, Pruritus ORPHA:2337
Pemphigus Foliaceus
Scaling skin, Annular cutaneous lesion, Oral ulcer, Pustule, Abnormal oral mucosa morphology, Pru... ORPHA:79481
Ichthyosis, Annular Epidermolytic, 2
Scaling skin, Ichthyosis, Skin erosion, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Or... OMIM:620148
Ulerythema Ophryogenesis
Facial erythema, Contact dermatitis, Erythematous papule, Dry skin, Acne, Hyperkeratotic papule, ... ORPHA:3406
Dermatitis Herpetiformis
Erythema, Delayed eruption of teeth, Eczematoid dermatitis, Macule, Urticaria, Dental enamel pits... ORPHA:1656
Acquired Ichthyosis
Ichthyosis, Hyperkeratosis, Dry skin, Papule, Pruritus, Palmoplantar keratoderma, Recurrent skin ... ORPHA:454
Chilblain Lupus
Skin ulcer, Malar rash, Erythematous papule, Hyperkeratosis, Discoid lupus rash, Skin rash, Cutis... ORPHA:90280
Familial Benign Chronic Pemphigus
Skin vesicle, Skin erosion, Erythema ORPHA:2841
Atrophoderma Vermiculata
Periauricular skin pits, Atrophic scars, Hypoplastic pilosebaceous units, Pruritus, Skin pit, Hyp... ORPHA:79100
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Cutaneous Mastocytoma
Scaling skin, Hypermelanotic macule, Erythema, Telangiectasia macularis eruptiva perstans, Erythe... ORPHA:79455
Erythema Elevatum Diutinum
Skin nodule, Skin vesicle ORPHA:90000
Necrobiosis Lipoidica
Abnormality of the hand, Skin ulcer, Indurated nodule, Atrophic scars, Papule, Fragile skin, Skin... ORPHA:542592
Keratoderma Hereditarium Mutilans With Ichthyosis
Parakeratosis, Generalized ichthyosis, Hyperkeratosis, Scaling skin on fingertip, Congenital nonb... ORPHA:79395
Lichen Planus Pemphigoides
Hyperkeratosis, Blepharitis, Abnormal oral mucosa morphology, Conjunctivitis, Skin vesicle, Pruritus ORPHA:254478
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Chronic otitis media, Osteopenia, Generalized abnormality of skin, Skin ulcer, Craniosynostosis, ... ORPHA:2314
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Scaling skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkeratosis, Dry skin, Atopic de... ORPHA:530838
Iga Pemphigus
Generalized abnormality of skin, Annular cutaneous lesion, Skin vesicle, Pustule, Skin erosion, O... ORPHA:555905
Peeling Skin Syndrome 6
Scaling skin, Parakeratosis, Dry skin, Atopic dermatitis, Orthokeratosis, Pruritus OMIM:618084
Ichthyosis, Congenital, Autosomal Recessive 6
Scaling skin, Parakeratosis, Generalized ichthyosis, Hyperkeratosis, Erythroderma, Dry skin, Cong... OMIM:612281
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Skin fragility with non-scarring blistering, Skin vesicle, Erythema migrans, Pruritus ORPHA:158681
Prolidase Deficiency
Bilateral single transverse palmar creases, Skin ulcer, Reduced bone mineral density, Genu valgum... ORPHA:742
Classic Mycosis Fungoides
Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Skin rash, Dry skin, Eczematoid dermatiti... ORPHA:2584
Juvenile Hyaline Fibromatosis
Skin ulcer, Abnormal diaphysis morphology, Gingival fibromatosis, Gingival overgrowth, Aplasia/Hy... ORPHA:2028
Cole Disease
Hyperkeratosis, Hypopigmented macule, Abnormality of the dentition, Hypergranulosis, Palmoplantar... OMIM:615522
Acrokeratoelastoidosis Of Costa
Piezogenic pedal papules, Palmar hyperhidrosis, Yellow papule, Hyperkeratotic papule, Palmoplanta... ORPHA:38
Erythrokeratodermia Variabilis
Hypermelanotic macule, Cutaneous photosensitivity, Hyperkeratosis, Skin rash, Dry skin, Hearing i... ORPHA:317
Skin ulcer, Arthritis, Skin rash, Limitation of joint mobility, Flexion contracture, Subcutaneous... ORPHA:231
Ichthyosis, Congenital, Autosomal Recessive 14
Scaling skin, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform ... OMIM:617571
Progressive Symmetric Erythrokeratodermia
Palmoplantar keratoderma, Skin plaque, Erythema ORPHA:316
Ichthyosis, Congenital, Autosomal Recessive 8
Ichthyosis, Hyperkeratosis, Hypergranulosis, Orthokeratosis, Erythema OMIM:613943
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Erythroderma, White scaling skin, Congenital nonbullous ichthyosiform erythroderma... OMIM:604777
Sjögren-Larsson Syndrome
Ichthyosis, Inflammatory abnormality of the eye, Abnormal dental enamel morphology, Hyperkeratosi... ORPHA:816
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Skin ulcer, Skin fissure, Hypodontia, Sensorineural hearing impairment, Abnormality of the dentit... ORPHA:659
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythema, Palmoplantar hyperker... OMIM:617526
Ectodermal Dysplasia-Syndactyly Syndrome 2
Ectodermal dysplasia, Macrotia, Congenital bullous ichthyosiform erythroderma, Enamel hypoplasia,... OMIM:613576
Aplasia Cutis Congenita
Skin ulcer, Finger syndactyly, Abnormality of bone mineral density, Aplasia cutis congenita over ... ORPHA:1114
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Milia, Oral mucosal blisters, Hyperkeratosis, Skin fragility with non-scar... ORPHA:79399
Porokeratosis Of Mibelli
Cutaneous photosensitivity, Hyperkeratosis, Aplasia/Hypoplasia of the skin, Porokeratosis, Pruritus ORPHA:735
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Erythrokeratodermia Variabilis Et Progressiva 3
Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis, Erythema OMIM:617525
Anonychia With Flexural Pigmentation
Macular telangiectasia, Hypermelanotic macule, Hyperkeratosis, Carious teeth, Abnormal skin morph... ORPHA:69125
Dentinogenesis Imperfecta
Fragile teeth, Grayish enamel, Yellow-brown discoloration of the teeth, Selective tooth agenesis,... ORPHA:49042
Palmoplantar Keratoderma, Norrbotten Recessive Type
Palmoplantar keratoderma, Hyperkeratosis, Papule, Recurrent cutaneous fungal infections OMIM:244850
Autosomal Dominant Epidermolytic Ichthyosis
Ichthyosis, Skin ulcer, Cutaneous photosensitivity, Hyperkeratosis, Erythroderma, Congenital bull... ORPHA:312
Cutaneous Small Vessel Vasculitis
Purpura, Abnormal oral cavity morphology, Skin rash, Papule, Urticaria, Cutis marmorata, Subcutan... ORPHA:889
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers, White papule, Palmar pruritus, Atopic de... ORPHA:498359
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Short philtrum, Scarring alopecia of scalp, Eczematoid dermatitis, Cleft palate, Natal tooth, Sub... OMIM:617337
Hyperkeratosis Lenticularis Perstans
Skin ulcer, Aplasia/Hypoplasia of the skin, Papule, Hyperkeratosis lenticularis perstans, Pruritus ORPHA:409
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation, Localized skin lesion, Milia, Atrophic scars, Fragile skin, Cariou... ORPHA:79405
Odontoonychodermal Dysplasia
Erythema, Smooth tongue, Conical incisor, Abnormality of primary teeth, Dry skin, Palmoplantar er... OMIM:257980
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Ichthyosis, Jaundice, Sclerosing cholangitis, Oligodontia, Dry skin, Enamel hypopl... OMIM:607626
Palmoplantar Keratoderma And Congenital Alopecia 2
Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly, Camptodactyly of finger, Palmoplantar h... OMIM:212360
Peeling Skin Syndrome 4
Scaling skin, Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:607936
Acral Peeling Skin Syndrome
Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin, Papule, Eczematoid dermatitis, Macu... ORPHA:263534
Erythrokeratodermia Variabilis Et Progressiva 2
Palmoplantar keratoderma, Skin plaque, Erythema OMIM:617524
Jessner Lymphocytic Infiltration Of The Skin
Erythema, Cutaneous photosensitivity, Papule, Skin plaque, Pruritus ORPHA:33314
Chilblain Lupus 1
Skin ulcer, Autoamputation of digits, Chilblains, Cutaneous photosensitivity OMIM:610448
Erosive Pustular Dermatosis Of The Scalp
Pustule, Skin erosion, Erythema, Scarring alopecia of scalp ORPHA:222
Pressure-Induced Localized Lipoatrophy
Lipoatrophy, Skin nodule, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Infla... ORPHA:90160
Pityriasis Rubra Pilaris
Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Erythematous ... OMIM:173200
Intermediate Generalized Junctional Epidermolysis Bullosa
Milia, Scarring alopecia of scalp, Atrophic scars, Enamel hypoplasia, Palmoplantar keratoderma, A... ORPHA:79402
Olmsted Syndrome 1
Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Autoamputation of digits, Flexio... OMIM:614594
Lichen Planopilaris
Hypopigmented skin patches, Neoplasm of the oral cavity, Skin ulcer, Hyperkeratosis, Papule, Prur... ORPHA:525
Acute Generalized Exanthematous Pustulosis
Scaling skin, Cheilitis, Purpura, Dyspnea, Predominantly dermal neutrophilic infiltrate, Pustule,... ORPHA:293173
Hennekam-Beemer Syndrome
Thick lower lip vermilion, Clinodactyly of the 5th finger, Microtia, High palate, Papule, Hearing... ORPHA:2135
Lipoatrophy, Skin ulcer, Excessive wrinkled skin, Prematurely aged appearance, Aplasia/Hypoplasia... ORPHA:2500
Idiopathic Localized Lipodystrophy
Scaling skin, Lipoatrophy, Morphea, Reduced subcutaneous adipose tissue, Absence of subcutaneous ... ORPHA:90158
Ichthyosis With Erythrokeratoderma
Scaling skin, Parakeratosis, Diffuse palmoplantar hyperkeratosis, Congenital ichthyosiform erythr... OMIM:620507
Hydroa Vacciniforme
Scarring, Hydroa vacciniforme, Cutaneous photosensitivity, Malar rash, Superficial dermal perivas... ORPHA:330058
Dermatofibrosarcoma Protuberans
Thickened skin, Subcutaneous nodule, Skin ulcer, Erythema ORPHA:31112
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis, Palmoplantar blistering, Milia OMIM:131800
Ichthyosis, Congenital, Autosomal Recessive 9
Hyperkeratosis, Eclabion, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Palmar ... OMIM:615023
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Absent toe, Syndactyly, Umbilical hernia, Epidermal nevus, Hyperkeratosis, 4-5 toe syndactyly, He... OMIM:308050
Wells Syndrome
Skin vesicle ORPHA:901
Maculopapular Cutaneous Mastocytosis
Generalized abnormality of skin, Dyspnea, Macule, Darier's sign, Yellow papule, Pruritus, Flushin... ORPHA:79457
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Milia, Hyperkeratosis, Atrophic scars, Aplasia cutis congenita on trunk or limbs, Palmoplantar hy... ORPHA:89838
Transgrediens Et Progrediens Palmoplantar Keratoderma
Facial erythema, Diffuse palmoplantar hyperkeratosis, High palate, Recurrent bacterial skin infec... ORPHA:495
Panniculitis-Induced Localized Lipodystrophy
Lipoatrophy, Skin nodule, Reduced subcutaneous adipose tissue, Vasculitis in the skin, Absence of... ORPHA:90159
Erythema Of Acral Regions
Talipes equinovarus, Abnormality of the dentition, Erythema OMIM:227000
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis, Multiple cafe-au-lait spots, Papule, Cutaneous photosensitivity ORPHA:1336
Dermatitis, Atopic
Ichthyosis, Facial erythema, Dry skin, Atopic dermatitis, Eczematoid dermatitis, Pruritus, Conjun... OMIM:603165
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Enamel hypoplasia, Carious teeth, Palmar hyperhidrosis, Plantar hyperker... OMIM:226650
Erythrokeratodermia Variabilis Et Progressiva 5
Joint stiffness, Hyperkeratosis, Abnormality of the dentition, Palmoplantar hyperkeratosis OMIM:617756
Pyoderma Gangrenosum
Skin ulcer, Myositis, Atrophic scars, Papule, Rheumatoid arthritis, Inflammation of the large int... ORPHA:48104
Quinquaud Folliculitis Decalvans
Scarring, Scarring alopecia of scalp, Pustule, Recurrent skin infections, Erythema ORPHA:346
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Milia, Cutaneous photosensitivity, Fragile skin, Thin skin, Dermal atrophy, Palmoplantar hyperker... ORPHA:158673
Vulvovaginal Gingival Syndrome
Parakeratosis, Erythema, Oral ulcer, Gingivitis, Skin erosion, Pruritus ORPHA:83453
Cutaneous Collagenous Vasculopathy
Diffuse telangiectasia, Erythema, Vascular skin abnormality, Petechiae, Skin rash, Prominent supe... ORPHA:280779
Familial Reactive Perforating Collagenosis
Erythematous papule, Abnormal pinna morphology, Perifolliculitis, Abnormal oral mucosa morphology... ORPHA:79147
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Facial erythema, Scarring alopecia of scalp, Folliculitis, Blepharitis, Carious teeth, Enamel hyp... OMIM:612843
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Dermatoosteolysis, Kirghizian Type
Abnormal metaphysis morphology, Abnormality of the hand, Skin ulcer, Tarsal synostosis, Abnormali... ORPHA:1657
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Orthokerat... OMIM:604117
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Milia, Scarring alopecia of scalp, Punctate keratitis, Carious teeth, Enamel hypoplasia, Keratiti... OMIM:226670
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum, Cutaneous abscess, Chronic furunculosis OMIM:619986
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Abnormality of the dentition, Angular cheilitis, Follicular hyperkeratosis OMIM:613102
Mal De Meleda
Perioral erythema, Brachydactyly, Congenital symmetrical palmoplantar keratosis, Ichthyosis OMIM:248300
Chronic Mucocutaneous Candidiasis
Cheilitis, Skin ulcer, Abnormal dental enamel morphology, Hyperkeratosis, Skin rash, Papule, Prur... ORPHA:1334
Vibratory Urticaria
Urticaria, Facial erythema, Flushing, Dermatographic urticaria OMIM:125630
Late-Onset Junctional Epidermolysis Bullosa
Localized skin lesion, Fragile skin, Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79406
Ollier Disease
Abnormal metaphysis morphology, Skin ulcer, Micromelia, Joint stiffness, Abnormal cartilage morph... ORPHA:296
Localized Junctional Epidermolysis Bullosa
Milia, Scarring alopecia of scalp, Abnormality of dental color, Fragile skin, Enamel hypoplasia, ... ORPHA:251393
Flynn-Aird Syndrome
Increased bone mineral density, Progressive sensorineural hearing impairment, Hyperkeratosis, Ost... OMIM:136300
Congenital Panfollicular Nevus
Skin nodule, Verrucous papule, Hyperkeratosis ORPHA:139414
Dentin Dysplasia, Type I
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... OMIM:125400
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Ichthyosis, Hyperkeratosis, Gingival recession, Tooth agenesis, Pruritus, Palmopla... OMIM:615821
Intellectual Disability And Myopathy Syndrome
Limited elbow extension, Widely-spaced maxillary central incisors, Incisor macrodontia, Atopic de... OMIM:619719
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the skin, Papule, Skin vesicle, Dermal a... ORPHA:257
Dyskeratosis Congenita
Premature graying of hair, Hypermelanotic macule, Macule, Taurodontia, Aplasia/Hypoplasia of the ... ORPHA:1775
Auriculocondylar Syndrome 2A
Short mandibular rami, Respiratory distress, Dental crowding, Mandibular condyle hypoplasia, Temp... OMIM:614669
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Genu valgum, Inguinal hernia, Mandibular prognathia, High palate, Tooth ... OMIM:618363
Otodental Dysplasia
Agenesis of premolar, Delayed eruption of teeth, Sensorineural hearing impairment, Enamel hypopla... OMIM:166750
Naegeli-Franceschetti-Jadassohn Syndrome
Supernumerary tooth, Subungual hyperkeratosis, Milia, Yellow-brown discoloration of the teeth, Pr... ORPHA:69087
Isolated Agammaglobulinemia
Clinodactyly of the 5th toe, Pneumonia, Skin ulcer, Inflammatory abnormality of the eye, Arthriti... ORPHA:229717
Hereditary Sensory And Autonomic Neuropathy Type 1
Skin ulcer, Hyperkeratosis, Penetrating foot ulcers, Hearing impairment, Pathologic fracture, Poo... ORPHA:36386
Angioma Serpiginosum
Macule, Vascular skin abnormality, Erythema ORPHA:95429
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Respiratory distress, Temporomandibular joint ankylosis, Dyspnea, ... ORPHA:141152
Hereditary Acrokeratotic Poikiloderma
Papule, Pustule, Joint hypermobility, Abnormal metacarpal morphology, Abnormality of the dentitio... ORPHA:2907
Peeling Skin Syndrome 3
White scaling skin, Pruritus, Erythema OMIM:616265
Dystrophic Epidermolysis Bullosa Pruriginosa
Scarring, Abnormality of the wrist, Milia, Hyperkeratosis, Atrophic scars, Papule, Pruritus, Subc... ORPHA:89843
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Scaling skin, Ichthyosis, Inguinal hernia, Hyperkeratosis, Dry skin, Gingivitis, Congenital nonbu... OMIM:614457
Ichthyosis Hystrix Of Curth-Macklin
Ichthyosis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Autoamputation of digits, Flexio... ORPHA:79503
Ramon Syndrome
Narrow palate, Gingival fibromatosis, Delayed eruption of teeth, Sensorineural hearing impairment... ORPHA:3019
Neuropathy, Hereditary Sensory, Type Iic
Intrinsic hand muscle atrophy, Autoamputation of digits, Acral ulceration OMIM:614213
Infantile Systemic Hyalinosis
Osteopenia, Skin ulcer, Gingival overgrowth, Osteoporosis, Micromelia, Thickened skin, Joint stif... ORPHA:2176
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Microd... ORPHA:363417
Erythema Nodosum, Familial
Erythema nodosum, Erythema OMIM:132990
Flynn-Aird Syndrome
Skin ulcer, Progressive sensorineural hearing impairment, Bone cyst, Joint stiffness, Carious tee... ORPHA:2047
Reticulate Acropigmentation Of Kitamura
Macule, Hyperkeratosis OMIM:615537
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Osteolytic defects of the phalanges of the hand, Seborrheic dermatitis, Redundant ski... OMIM:259100
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Localized Scleroderma
Short dental root, Thickened skin, Upper limb asymmetry, Progressive loss of facial adipose tissu... ORPHA:90289
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Perioral hyperkeratosis,... OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis OMIM:617574
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Ichthyosis, Erythroderma, Hypergranulosis, Eosinophilic infiltration of the esophagus, Palmoplant... OMIM:615508
Sweet Syndrome
Abnormality of the hand, Panniculitis, Myositis, Erythematous papule, Predominantly dermal neutro... ORPHA:3243
Keratoderma Hereditarium Mutilans
Ichthyosis, Sensorineural hearing impairment, Hyperkeratosis, Autoamputation of digits, Papule, H... ORPHA:494
Elastosis Perforans Serpiginosa
Annular cutaneous lesion, Erythematous papule, Skin-colored papule, Skin plaque, Cutis laxa, Serp... ORPHA:79148
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Erythema, Colitis OMIM:219095
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Subcutaneous nodule ORPHA:2297
Amelo-Onycho-Hypohidrotic Syndrome
Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A... ORPHA:1028
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia OMIM:104530
Rosaï-Dorfman Disease
Subcutaneous nodule, Papule, Erythema, Osteolysis ORPHA:158014
Proliferating Trichilemmal Cyst
Skin ulcer, Epidermoid cyst ORPHA:492
Bullous Impetigo
Septic arthritis, Pustule, Recurrent bacterial skin infections, Erythema ORPHA:36237
Palmoplantar Keratoderma, Punctate Type Ia
Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis OMIM:148600
Dowling-Degos Disease 2
Hypomelanotic macule, Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Ichthyosis, Congenital, Autosomal Recessive 3
Ichthyosis, Hyperkeratosis, Eclabion, Congenital nonbullous ichthyosiform erythroderma, Palmoplan... OMIM:606545
Corneodermatoosseous Syndrome
Abnormality of the hand, Abnormal metacarpal morphology, Abnormal dental enamel morphology, Abnor... ORPHA:3194
Hypotrichosis 6
Pruritus, Erythema, Follicular hyperkeratosis OMIM:607903
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Pruritus OMIM:146750
Mastocytosis, Cutaneous
Urticaria, Hypermelanotic macule, Erythema, Telangiectasia macularis eruptiva perstans OMIM:154800
Shaheen Syndrome
Enamel hypoplasia, Carious teeth, Palmoplantar hyperkeratosis OMIM:615328
Hall-Riggs Syndrome
Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Osteopo... OMIM:234250
Keratosis Pilaris Atrophicans
Comedo, Papule, Erythema OMIM:604093
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Carious teeth, Thick vermilion border, Palmoplantar hyperkeratosis, Hepatitis ORPHA:363523
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Short middle phalanx of the 5th finger, Carious teeth, Cutaneous finger syndactyly, Flexion contr... OMIM:203550
Epidermolysis Bullosa, Junctional 1B, Severe
Milia, Atrophic scars, Congenital localized absence of skin, Enamel hypoplasia, Carious teeth, Sy... OMIM:226700
Hypopigmented skin patches, Verrucous papule, Osteolysis, Hyperparakeratosis, Erythematous macule... ORPHA:182
C1Q Deficiency 2
Recurrent otitis media, Facial erythema, Malar rash, Arthritis, Discoid lupus rash, Oral ulcer, C... OMIM:620321
Rubinstein-Taybi Syndrome 2
Narrow palate, Retrognathia, Short 5th toe, Short first metatarsal, Increased overbite, Prominent... OMIM:613684
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Sensorineural hearing impairment, Hyperkeratosis ORPHA:2202
Periostitis, Stiff interphalangeal joints, Erythema, Cutaneous photosensitivity, Petechiae, Arthr... ORPHA:324625
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-3 toe cutaneous syndactyly, Widely spaced teeth, Conical tooth, Ectodermal dysplasia, 4-5 toe s... OMIM:613573
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis, Papule ORPHA:315
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Facial erythema, Scarring alopecia of scalp, Folliculitis, Dry skin, Blepharitis, Keratitis, Conj... OMIM:308800
Fountain Syndrome
Abnormal palate morphology, Thick lower lip vermilion, Abnormal metacarpal morphology, Craniofaci... ORPHA:3219
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Knee flexion contracture, Arthritis, Sterile arthritis, Elbow flexion contracture, Cystic acne, A... OMIM:604416
Pfeiffer-Palm-Teller Syndrome
Joint stiffness, Enamel hypoplasia, Abnormal pinna morphology ORPHA:2871
Fixed Drug Eruption
Generalized abnormality of skin, Stomatitis, Oral ulcer, Skin detachment, Erythematous plaque, Sk... ORPHA:293812
Rapp-Hodgkin Syndrome
Microdontia, Bifid uvula, Syndactyly, Anhidrotic ectodermal dysplasia, Small, conical teeth, Taur... OMIM:129400
Sydenham Chorea
Septic arthritis, Endocarditis, Erythema ORPHA:306731
Familial Cold Autoinflammatory Syndrome 3
Recurrent otitis media, Allergic rhinitis, Angioedema, Hashimoto thyroiditis, Pruritus, Cold urti... OMIM:614468
Limited Cutaneous Systemic Sclerosis
Hypopigmented skin patches, Skin ulcer, Foot joint contracture, Telangiectasia of the skin, Mucos... ORPHA:220402
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis, Skin ulcer, Acral ulceration ORPHA:139578
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Papa Syndrome
Skin ulcer, Myositis, Arthritis, Crohn's disease, Limitation of joint mobility, Pustule, Acne, In... ORPHA:69126
Brooke-Spiegler Syndrome
Nodular changes affecting the eyelids, Skin ulcer, Skin-colored papule, Hearing impairment, Skin ... ORPHA:79493
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Keratolytic Winter Erythema
Palmoplantar hyperhidrosis, Erythema OMIM:148370
Pachyonychia Congenita
Advanced eruption of teeth, Palmoplantar keratoderma, Cutaneous cyst, Respiratory distress, Linea... ORPHA:2309
Ichthyosis, Congenital, Autosomal Recessive 2
Short finger, Congenital ichthyosiform erythroderma, Hyperkeratosis, Everted lower lip vermilion,... OMIM:242100
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Skin ulcer, Recurrent bacterial skin infections, Atopic dermatitis, Recurre... ORPHA:217390
Immunodeficiency 114, Folate-Responsive
Skin ulcer, Atopic dermatitis, Aphthous ulcer, Carious teeth, Lip fissure OMIM:620603
Incontinentia Pigmenti
Skin rash, Umbilical hernia, Osteolysis, Hyperkeratosis, Absent hand, Abnormal dental morphology,... ORPHA:464
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Multiple bony cystic lesions, Atrophy of alveolar ridges, Abnormality of pri... ORPHA:83451
Rothmund-Thomson Syndrome, Type 1
Recurrent otitis media, Conical tooth, Hyperkeratosis, Osteoporosis, Cafe-au-lait spot OMIM:618625
Psoriasis 14, Pustular
Parakeratosis, Cholangitis, Furrowed tongue, Geographic tongue, Pustule, Psoriasiform dermatitis,... OMIM:614204
X-Linked Agammaglobulinemia
Chronic otitis media, Hypopigmented skin patches, Skin ulcer, Sensorineural hearing impairment, S... ORPHA:47
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperhidrosis, Palmoplantar hyperker... OMIM:615598
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Reticular Dysgenesis
Chronic otitis media, Hearing impairment, Skin rash, Skin ulcer ORPHA:33355
Drug-Induced Localized Lipodystrophy
Lipoatrophy, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Erythema ORPHA:90157
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Hypodontia, Sensorineural hearing impairment, Hyperkeratosis, Enamel h... OMIM:616029
Mulibrey Nanism
Nevus flammeus, Absent frontal sinuses, Dental crowding, Hypodontia, Single transverse palmar cre... OMIM:253250
Bullous Pemphigoid
Erythema, Eczematoid dermatitis, Macule, Urticaria, Oral mucosal blisters, Psoriasiform dermatiti... ORPHA:703
Intellectual Disability, Birk-Barel Type
High, narrow palate, Sacral dimple, Limited elbow flexion/extension, Foot joint contracture, Shor... ORPHA:166108
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Gingival fibromatosis, Respiratory distress, Gingival overgrowth, Low-set ears, Man... ORPHA:1832
Parana Hard Skin Syndrome
Thickened skin, Hyperkeratosis, Tapered finger, Restricted chest movement ORPHA:2812
48,Xyyy Syndrome
Thick lower lip vermilion, Acne, Dislocated radial head, High palate, Enamel hypoplasia, Irregula... ORPHA:99329
Superficial Epidermolytic Ichthyosis
Ichthyosis, Thin skin, Palmoplantar keratoderma, Acantholysis, Erythema ORPHA:455
Chime Syndrome
Supernumerary tooth, Ichthyosis, Skin ulcer, Short philtrum, Aplasia/Hypoplasia of the phalanges ... ORPHA:3474
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology, Abnormal dental morphology ORPHA:1653
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Scaling skin, Cheilitis, Hyperkeratosis, Dry skin, Angular cheilitis, Fragile skin, Oral leukopla... OMIM:616295
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hypermelanotic macule, Milia, Cutaneous photosensitivity, Oral mucosal blisters, Skin fragility w... ORPHA:79397
Familial Cold Urticaria
Erythema, Sensorineural hearing impairment, Arthritis, Urticaria, Conjunctivitis, Pruritus ORPHA:47045
Porphyria Variegata
Localized skin lesion, Proximal muscle weakness in upper limbs, Scarring, Milia, Cutaneous photos... ORPHA:79473
Werner Syndrome
Neoplasm of the oral cavity, Premature graying of hair, Rocker bottom foot, Skin ulcer, Lipoatrop... ORPHA:902
Reynolds Syndrome
Generalized abnormality of skin, Skin ulcer, Keratoconjunctivitis sicca, Jaundice, Arthritis, Ski... ORPHA:779
Microscopic Polyangiitis
Skin ulcer, Pancreatitis, Arthritis, Skin rash, Episcleritis, Sinusitis, Pericarditis, Cutis marm... ORPHA:727
Proteus Syndrome
Epidermal nevus, Lipoma, Hyperkeratosis, Calvarial hyperostosis, Mandibular hyperostosis, Facial ... OMIM:176920
Skin ulcer, Ectopic ossification, Cutis marmorata, Cellulitis, Abnormality of skin physiology ORPHA:280062
Leukocyte Adhesion Deficiency Type Ii
Narrow palate, Scarring, Recurrent otitis media, Severe periodontitis, Small earlobe, Microtia, L... ORPHA:99843
Buerger Disease
Livedo reticularis, Skin ulcer, Acrocyanosis ORPHA:36258
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Skin ulcer, Aplasia/Hypoplasia of the skin, Thin skin, Subcutaneous hemorrhage ORPHA:743
Intellectual Developmental Disorder, Autosomal Dominant 21
Thin vermilion border, Sacral dimple, Single transverse palmar crease, Incisor macrodontia, Low-s... OMIM:615502
Mycosis Fungoides
Erythema, Eczematoid dermatitis, Psoriasiform dermatitis, Skin plaque, Pruritus OMIM:254400
Cockayne Syndrome Type 2
Progeroid facial appearance, Hypermelanotic macule, Hypoplasia of the primary teeth, Scarring, Ma... ORPHA:90322
Prolidase Deficiency
Skin ulcer, Diffuse telangiectasia, Petechiae, High palate, Eczematoid dermatitis, Prolonged neon... OMIM:170100
Infantile Myofibromatosis
Abnormal metaphysis morphology, Skin ulcer, Chondrocalcinosis, Gingival fibromatosis, Bone cyst, ... ORPHA:2591
Filippi Syndrome
Thin vermilion border, Finger clinodactyly, Short philtrum, Single transverse palmar crease, Serr... OMIM:272440
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Kindler Epidermolysis Bullosa
Cheilitis, Short 4th metacarpal, Milia, Hyperkeratosis, Aplasia/Hypoplasia of the skin, Inflammat... ORPHA:2908
Acute Radiation Syndrome
Scaling skin, Skin ulcer, Hyperkeratosis, Inflammatory abnormality of the skin, Interstitial pneu... ORPHA:454831
Diffuse Cutaneous Systemic Sclerosis
Skin ulcer, Arthritis, Dyspnea, Carious teeth, Flexion contracture, Telangiectasia of the skin, O... ORPHA:220393
Acral Self-Healing Collodion Baby
Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Lack of skin elasticity, Erythema ORPHA:281127
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypoplasia, Enamel hypomineralization OMIM:614832
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer, Hyperkeratosis, Abnormality of the dentition, Hearing impairment, Protruding ear, Ker... ORPHA:1806
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Fragile skin OMIM:615028
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Dental crowding, Short metacarpal, Prominent ... OMIM:170390
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Perching Syndrome
Respiratory distress, High palate, Camptodactyly, Joint contracture, Cyanosis OMIM:617055
Glutamine Deficiency, Congenital
Thin vermilion border, Low-set ears, Camptodactyly, Micromelia, Apnea, Flexion contracture, Erythema OMIM:610015
Specific Granule Deficiency 2
Osteopenia, Amelogenesis imperfecta, Recurrent otitis media, Acanthosis nigricans, Sandal gap, To... OMIM:617475
Cranioectodermal Dysplasia
Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo... ORPHA:1515
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Osteopenia, Sensorineural hearing impairment, Atrophic scars, Joint hypermobility, Bruising susce... ORPHA:300179
Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Enamel hypoplasia, B... OMIM:612463
Skin ulcer, Abnormal oral cavity morphology, Papule, Rhinitis, Abnormal oral mucosa morphology, P... ORPHA:507
Variegate Porphyria, Childhood-Onset
Short finger, Scarring, Milia, Cutaneous photosensitivity, Short metacarpal, Atopic dermatitis, F... OMIM:620483
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Angioedema, Swollen lip, Erythema, Respiratory distress ORPHA:100057
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car... OMIM:617297
Mesomelia, Joint hypermobility, Delayed eruption of primary teeth, Short finger, Rhizomelia, Incr... ORPHA:763
Interstitial Granulomatous Dermatitis With Arthritis
Erythema, Papule, Rheumatoid arthritis, Inflammatory abnormality of the skin, Pruritus ORPHA:79099
Dental Ankylosis
Abnormal dental enamel morphology, Mandibular prognathia, Clinodactyly of the 5th finger, Tooth a... ORPHA:1077
Congenital Syphilis
Myocarditis, Palmoplantar scaling skin, Purpura, Periostitis, Pancreatitis, Hyperplasia of the ma... ORPHA:499009
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Pruritus, Atrophic scars OMIM:131850
Takayasu Arteritis
Skin ulcer, Inflammatory abnormality of the eye, Arthritis, Subcutaneous nodule, Abnormal pattern... ORPHA:3287
Lipoid Proteinosis Of Urbach And Wiethe
Scarring, Hyperkeratosis, Papule, Thickened skin, Skin erosion, Skin plaque OMIM:247100
Meige Disease
Skin ulcer, Cobblestone-like hyperkeratosis, Recurrent bacterial skin infections, Atypical scarri... ORPHA:90186
Acrootoocular Syndrome
Abnormal earlobe morphology, Sandal gap, Hyperpigmented nevi, Sensorineural hearing impairment, S... ORPHA:2980
Polyarteritis Nodosa
Skin ulcer, Pericarditis, Cutis marmorata, Subcutaneous nodule, Erythema ORPHA:767
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Erythema, Thyroiditis, Skin rash, Dyspnea, Angioedema, Macule, Pustule, Infectious e... ORPHA:139402
Blepharophimosis-Impaired Intellectual Development Syndrome
Widely spaced teeth, Clinodactyly of the 5th finger, Short philtrum, Exaggerated cupid's bow, Low... OMIM:619293
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Abnormal dental morpholog... OMIM:618531
Lamellar Ichthyosis
Chronic otitis media, Ichthyosis, Hyperkeratosis, Abnormal helix morphology, Dry skin, Everted lo... ORPHA:313
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Accessory oral frenulum, Osteolysis involving bones of the lower limbs, Osteolysis involving bone... ORPHA:88630
Familial Keratoacanthoma
Subcutaneous nodule, Hyperkeratosis, Skin ulcer, Papule ORPHA:493
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Recurrent aphthous stomatitis, Periodontitis, Oral ulcer, Premature loss of teeth, Gi... ORPHA:486
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Familial Tumoral Calcinosis
Hypopigmented skin patches, Abnormal palate morphology, Hyperostosis, Skin rash, Gingivitis, Abno... ORPHA:53715
Erythema Palmare Hereditarium
Erythema OMIM:133000
Hailey-Hailey Disease
Erythema OMIM:169600
Annular Erythema
Erythema OMIM:106500
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Generalized abnormality of skin, Scarring, Milia, Craniosynostosis, Oral mucosal blisters, Smooth... ORPHA:79396
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Diaphyseal dysplasia, Low-set ears, Osteoporosis, Posteriorly rotated ea... OMIM:614727
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Autoamputation of digits, Osteolytic defects of the phalanges of the hand, Acral ulceration, Oste... OMIM:613115
Bone Marrow Failure Syndrome 3
Amelogenesis imperfecta, Reduced bone mineral density, Hypodontia, Oral ulcer, Hyperkeratosis, Mi... OMIM:617052
Free Sialic Acid Storage Disease
Reduced bone mineral density, Abnormality of the upper limb, Skin ulcer ORPHA:834
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Periostitis, Skin ulcer, Osteomyelitis ORPHA:2218
Vitamin D-Dependent Rickets, Type 2A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Delayed eruption of teeth, Enlargement ... OMIM:277440
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinusitis, Recurrent pneumonia, Atrophic gastritis, Bronchiectasis, Recurrent skin infe... OMIM:616576
Aplasia Cutis-Myopia Syndrome
Skin ulcer, Aplasia cutis congenita ORPHA:1117
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Tooth agenesis, Skin nodule, Macule, Abnormal palmar dermatoglyp... ORPHA:2092
Rothmund-Thomson Syndrome Type 2
Aplasia/hypoplasia involving bones of the upper limbs, Short metacarpal, Microdontia, Tooth agene... ORPHA:221016
Thickened skin, Hyperkeratosis ORPHA:1659
Braddock-Carey Syndrome 1
Talipes equinovarus, Everted lower lip vermilion, Camptodactyly, Macrotia, Enamel hypoplasia, Cle... OMIM:619980
Centrifugal Lipodystrophy
Scaling skin, Lipoatrophy, Lymphadenitis, Lack of facial subcutaneous fat, Reduced subcutaneous a... ORPHA:90156
Auriculocondylar Syndrome
Dental crowding, Abnormal pinna morphology, Mandibular condyle hypoplasia, Glossoptosis, Bifid uv... ORPHA:137888
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Skin ulcer, Chronic sinusitis, Bronchiectasis OMIM:604571
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Bilateral sensorineural hearing impairment... OMIM:605282
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Punctate Palmoplantar Keratoderma Type 1
Verrucous papule, Hyperkeratotic papule, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, H... ORPHA:79501
Congenital Disorder Of Glycosylation, Type Iil
Retrognathia, Hyperkeratosis, Dry skin, Postaxial polydactyly, Enamel hypoplasia, Inflammation of... OMIM:614576
Reduced bone mineral density, Pallor, Skin ulcer, Hepatitis ORPHA:848
Primary Erythromelalgia
Pruritus, Erythema ORPHA:90026
Hamamy Syndrome
Sensorineural hearing impairment, Everted lower lip vermilion, Wide mouth, Syndactyly, Long philt... OMIM:611174
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Dental enamel pits, Macular hyperpigmented dermopathy, Scarring alopecia of scalp OMIM:619787
Warty Dyskeratoma
Localized skin lesion, Abnormal hard palate morphology, Erythematous papule, Neoplasm of the tong... ORPHA:69745
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar keratoderma, Epidermal hyperkeratosis, Palmoplantar erythema, Plantar hyperkeratosis OMIM:104100
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Hypermobility of interphalang... OMIM:613849
Lowry-Maclean Syndrome
Osteopenia, Retrognathia, High, narrow palate, Congenital diaphragmatic hernia, Inguinal hernia, ... ORPHA:2409
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Oculoskeletodental Syndrome
Retrognathia, Sensorineural hearing impairment, Oligodontia, Abnormality of the dentition, Microd... ORPHA:557003
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Skin ulcer, Distal upper limb muscle weakness, Autoamputation of digits, Osteomyelitis OMIM:613640
Epidermolysis Bullosa, Lethal Acantholytic
Widely spaced toes, Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finge... OMIM:609638
Bathing Suit Ichthyosis
Scaling skin, Parakeratosis, Ichthyosis, Autoamputation of digits, Thickened skin, Eclabion, Cong... ORPHA:100976
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Palmoplantar scaling skin, Clubbing of fingers, Tooth agenesis, Fragile skin, Palmoplantar erythe... OMIM:605676
Hajdu-Cheney Syndrome
Partial absence of toe, Decreased skull ossification, Thickened skin, Umbilical hernia, Long phil... ORPHA:955
Clark-Baraitser syndrome
Thick lower lip vermilion, Genu valgum, Prominent median palatal raphe, Exaggerated median tongue... OMIM:300602
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:616221
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth, Dry skin ORPHA:248
Congenital Disorder Of Glycosylation, Type Iy
Widely spaced teeth, Respiratory distress, Macrotia, Micrognathia, Wide mouth, Clinodactyly OMIM:300934
Cleft Lip/Palate
Orofacial cleft, Recurrent otitis media, Abnormal number of permanent teeth, Palate fistula, Bila... ORPHA:199306
Abnormality of the hand, Cutaneous cyst, Bone cyst, Abnormal bone structure, Cobblestone-like hyp... ORPHA:2583
Ichthyosis Hystrix, Curth-Macklin Type
Palmoplantar keratoderma, Hyperkeratotic papule, Scaling skin, Fragile skin OMIM:146590
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Limitation of joint mobility, Respiratory distress ORPHA:2680
Bazex Syndrome
Scaling skin, Liposarcoma, Parakeratosis, Acanthosis nigricans, Lip hyperpigmentation, Hyperkerat... ORPHA:166113
Pemphigus Erythematosus
Hypopigmented skin patches, Localized skin lesion, Malar rash, Oral ulcer, Focal dermal aplasia/h... ORPHA:79480
Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Clubbing, Camptodactyly, Interphalangeal joint contracture o... ORPHA:2199
Autosomal Erythropoietic Protoporphyria
Cutaneous photosensitivity, Pruritus, Erythema, Eczematoid dermatitis ORPHA:79278
Systemic Sclerosis
Nail bed telangiectasia, Thickened skin, Pericarditis, Digital pitting scar, Abnormal phalangeal ... ORPHA:90291
Immunoglobulin A Vasculitis
Purpura, Skin ulcer, Erythema, Vascular skin abnormality, Arthritis, Skin rash, Episcleritis, Ang... ORPHA:761
Seckel Syndrome 5
Retrognathia, Clinodactyly of the 5th finger, Oligodontia, Selective tooth agenesis, Low-set ears... OMIM:613823
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... ORPHA:2751
Lethal Recessive Chondrodysplasia
Respiratory distress, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Genera... ORPHA:1423
Chronic Granulomatous Disease
Hypermelanotic macule, Skin ulcer, Inflammatory abnormality of the eye, Cutaneous photosensitivit... ORPHA:379
Disabling Pansclerotic Morphea Of Childhood
Oral ulcer, Joint contracture, Morphea, Skin ulcer OMIM:620443
Xeroderma Pigmentosum
Hypopigmented skin patches, Hypermelanotic macule, Craniofacial hyperostosis, Cutaneous photosens... ORPHA:910
Rothmund-Thomson Syndrome
Reduced bone mineral density, Skin rash, Microdontia, Palmar hyperkeratosis, Plantar hyperkeratos... ORPHA:2909
Lenz-Majewski Hyperostotic Dwarfism
Sensorineural hearing impairment, Cutis laxa, Cutis marmorata, Syndactyly, Joint hypermobility, I... OMIM:151050
Otodental Syndrome
Agenesis of premolar, Abnormality of canine, Periodontitis, Delayed eruption of teeth, Abnormal d... ORPHA:2791
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Livedo, Conical incisor, Carious teeth, Enamel hypoplasia, Facial telangiectasia, Telangiectasia OMIM:614564
Ichthyosis, Hystrix-Like, With Deafness
Ichthyosis, Scarring alopecia of scalp, Sensorineural hearing impairment, Hyperkeratosis, Erythro... OMIM:602540
Neurogenic Arthrogryposis Multiplex Congenita
Rocker bottom foot, Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, W... ORPHA:1143
Pityriasis Rubra Pilaris
Ichthyosis, Abnormal oral cavity morphology, Erythroderma, Papule, Eczematoid dermatitis, Thicken... ORPHA:2897
Scarf Syndrome
Long philtrum, Low-set, posteriorly rotated ears, Inguinal hernia, Cutis laxa, Enamel hypoplasia,... ORPHA:3134
Hyperimmunoglobulinemia D With Periodic Fever
Purpura, Recurrent aphthous stomatitis, Arthritis, Limitation of joint mobility, Papule, Urticari... ORPHA:343
Lipoid Proteinosis
Scarring, Thick lower lip vermilion, Hyperkeratosis, High palate, Papule, Abnormality of the ging... ORPHA:530
Granulomatous Slack Skin
Cutis laxa, Redundant skin, Erythema ORPHA:33111
Seckel Syndrome 1
Clinodactyly of the 5th finger, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, D... OMIM:210600
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Milia, Mitten deformity, Atrophic scars, Narrow mouth, Corneal scarring, Fragile skin, Enamel hyp... OMIM:226600
Tricho-Dento-Osseous Syndrome
Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Increased bone mineral densit... ORPHA:3352
Juvenile Dermatomyositis
Skin ulcer, Cutaneous photosensitivity, Myositis, Arthritis, Skin rash, Limitation of joint mobil... ORPHA:93672
Sting-Associated Vasculopathy, Infantile-Onset
Malar rash, Myositis, Skin rash, Pustular rash, Joint stiffness, Pustule, Cutis marmorata, Livedo... OMIM:615934
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Enamel hypoplasia, Micro... OMIM:212780
Costello Syndrome
Narrow palate, Thick lower lip vermilion, Acanthosis nigricans, Low-set, posteriorly rotated ears... ORPHA:3071
Acrodermatitis Enteropathica
Generalized abnormality of skin, Cheilitis, Skin ulcer, Glossitis, Dry skin, Furrowed tongue, Ble... ORPHA:37
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Generalized hyperkeratosis, Hyperkeratosis, Erythroderma, Cobblestone-like hyperkeratosis, Congen... OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 10
Generalized ichthyosis, Hyperkeratosis, Erythroderma, Orthokeratotic hyperkeratosis, Congenital n... OMIM:615024
Osteogenesis Imperfecta, Type Xix
Osteopenia, Rhizomelia, Hearing impairment, Multiple prenatal fractures, Dentinogenesis imperfect... OMIM:301014
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Increased bone mineral density, Delayed eruption of teeth, Dyspnea, Cortica... ORPHA:94089
Xeroderma Pigmentosum, Complementation Group F
Cutaneous photosensitivity, Papule, Hearing impairment, Flexion contracture, Erythema OMIM:278760
Cryoglobulinemic Vasculitis
Purpura, Skin ulcer, Petechiae, Arthritis, Viral hepatitis, Cutis marmorata, Keratoconjunctivitis... ORPHA:91138
Familial Multiple Nevi Flammei
Hypermelanotic macule, Skin ulcer, Nevus flammeus, Abnormality of the upper limb, Papule ORPHA:624
Raine Syndrome
Mixed hearing impairment, Subperiosteal bone formation, Abnormal pinna morphology, Microdontia, W... OMIM:259775
Sjogren-Larsson Syndrome
Enamel hypoplasia, Ichthyosis, Flexion contracture OMIM:270200
Protoporphyria, Erythropoietic, 1
Pruritus, Erythema, Eczematoid dermatitis OMIM:177000
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Retrognathia, Reduced bone mineral density, Microtia, Dry skin, Eclabion, Congenital nonbullous i... OMIM:620510
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Fibular bowing, Delayed epiphyseal ossification, Delayed eruption of teeth, Enlargement ... OMIM:264700
Subacute Cutaneous Lupus Erythematosus
Cheilitis, Psoriasiform lesion, Cutaneous photosensitivity, Malar rash, Hyperkeratosis, Discoid l... ORPHA:163525
Retrognathia, Clubbing, Umbilical hernia, Craniosynostosis, Congenital exfoliative erythroderma, ... ORPHA:33364
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Enamel hypoplasia, Retrognathia, High palate OMIM:617915
Warburg-Cinotti Syndrome
Ankle flexion contracture, Osteolytic defects of the phalanges of the hand, Follicular hyperkerat... OMIM:618175
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Milia, Atrophic scars, Fragile skin, Enamel hypoplasia, Aplasia cutis congenita on trunk or limbs... OMIM:226730
Acquired Purpura Fulminans
Erythematous macule, Macular purpura, Skin rash, Macule, Acrocyanosis, Pyoderma gangrenosum ORPHA:49566
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Delayed eruption of teeth, Sensorineural hearing impairment, Osteoporosis, Dentin... ORPHA:71267
Den Hoed-De Boer-Voisin Syndrome
Amelogenesis imperfecta, Widely spaced teeth, Sandal gap, Delayed eruption of teeth, Yellow-brown... OMIM:619229
Snijders Blok-Campeau Syndrome
Widely spaced teeth, Inguinal hernia, High palate, Low-set ears, Enamel hypoplasia, Umbilical her... OMIM:618205
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Thin vermilion border, Enamel hypoplasia, Malar flattening ORPHA:139474
Skin ulcer, Panniculitis, Maculopapular exanthema, Myositis, Arthritis, Papule, Bronchiectasis, S... ORPHA:228119
Leopard Syndrome 3
Multiple lentigines, Numerous nevi, Cubitus valgus, Sensorineural hearing impairment, Hyperkerato... OMIM:613707
Chronic otitis media, Skin ulcer, Sensorineural hearing impairment, High palate, Mild neurosensor... ORPHA:443811
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia OMIM:104510
Rothmund-Thomson Syndrome Type 1
Short metacarpal, Microdontia, Tooth agenesis, Plantar hyperkeratosis, Genu varum, Finger symphal... ORPHA:221008
Dominant Beta-Thalassemia
Skin ulcer, Jaundice, Genu valgum, Dyspnea, Abnormality of the dentition, Osteoporosis, Bowing of... ORPHA:231226
Rheumatic Fever
Myocarditis, Arthritis, Sinusitis, Pericarditis, Macule, Subcutaneous nodule, Pallor, Endocarditi... ORPHA:3099
Atkin-Flaitz Syndrome
Abnormality of the dentition, Everted lower lip vermilion, Maxillary lateral incisor microdontia,... ORPHA:1193
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Recurrent aphthous stomatitis, Recurrent pneumonia, Bronchiectasis, Pyo... OMIM:150550
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth, Brachydactyly ORPHA:2643
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Sandal gap, Conical tooth, Scarring alopecia of scalp, Oligodontia, Microdontia, Persistence of p... OMIM:618727
Hypotrichosis Simplex Of The Scalp
Scaling skin, Parakeratosis, Hyperkeratosis, Atopic dermatitis, Pruritus, Allergic rhinitis ORPHA:90368
Chronic Graft Versus Host Disease
Morphea, Skin ulcer, Erythema, Intermittent generalized erythematous papular rash, Arthritis, Dys... ORPHA:99921
Ichthyosis, Congenital, Autosomal Recessive 11
Hyperkeratosis, Conical primary incisor, Blepharitis, Congenital ichthyosiform erythroderma, Prur... OMIM:602400
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Poikiloderma With Neutropenia
Retrognathia, Long philtrum, Recurrent otitis media, Hyperkeratosis, Skin rash, Joint stiffness, ... OMIM:604173
Pemphigus Vulgaris
Erosion of oral mucosa, Urticaria, Recurrent cutaneous abscess formation, Atypical scarring of sk... ORPHA:704
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Scaling skin, Parakeratosis, Psoriasiform lesion, Intermittent generalized erythematous papular r... ORPHA:284426
48,Xxyy Syndrome
Chronic otitis media, Thick lower lip vermilion, Clinodactyly of the 5th finger, Broad jaw, Delay... ORPHA:10
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Talipes equinovarus, Aspiration, Low-set ears, High palate, Corneal scarring, Hand clenching, Apn... OMIM:614653
Odontochondrodysplasia 1
Long philtrum, Delayed eruption of teeth, Cone-shaped epiphyses of the phalanges of the hand, Met... OMIM:184260
Darier-White Disease
Hypermelanotic macule, Palmar pits, Enlargement of parotid gland, Acrokeratosis, Acantholysis, Pl... OMIM:124200
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Oculodentodigital Dysplasia, Autosomal Recessive
Long philtrum, Hypoplasia of the primary teeth, Thin vermilion border, 2-4 toe cutaneous syndacty... OMIM:257850
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the ... OMIM:617102
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Long philtrum, Supernumerary tooth, Short finger, Cone-shaped epiphyses of the middle... OMIM:190351
Cockayne Syndrome Type 1
Progeroid facial appearance, Hypermelanotic macule, Hypoplasia of the primary teeth, Scarring, Fo... ORPHA:90321
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Single transverse palmar crease, Notched primary central incisor, Low-set ears, Brachydactyly, Ad... OMIM:620062
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Lipoatrophy, Thin vermilion border, Short philtrum, Respiratory distress, Macrotia, Thin skin, Mi... ORPHA:261304
Abnormal metaphysis morphology, Retrognathia, Delayed eruption of teeth, Respiratory distress, Bo... ORPHA:166272
Abnormal metaphysis morphology, Craniofacial hyperostosis, Delayed eruption of teeth, Increased b... ORPHA:1782
Galloway-Mowat Syndrome 8
Hearing impairment, Enamel hypoplasia OMIM:618349
Amelogenesis Imperfecta, Type If
Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color OMIM:616270
Livedoid Vasculopathy
Skin ulcer, Erythematous papule, Macular purpura, Atrophic scars, Superficial dermal perivascular... ORPHA:542643
Pseudohypoparathyroidism, Type Ia
Short finger, Short metatarsal, Delayed eruption of teeth, Short metacarpal, Subcutaneous ossific... OMIM:103580
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Narrow palate, Acanthosis nigricans, Palmoplantar cutis gyrata, Aplasia/Hypoplasia of the earlobe... ORPHA:1555
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin... ORPHA:166277
Wiskott-Aldrich Syndrome
Chronic otitis media, Spontaneous hematomas, Purpura, Skin ulcer, Petechiae, Arthritis, Hyperosto... ORPHA:906
Schopf-Schulz-Passarge Syndrome
Hypodontia, Hyperkeratosis, Ectodermal dysplasia, Dry skin, Palmoplantar keratoderma OMIM:224750
Acrokeratosis Verruciformis
Verrucous papule, Hyperkeratosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis OMIM:101900
Neutrophilic Dermatosis, Acute Febrile
Pyoderma gangrenosum, Panniculitis, Cystic acne, Erythema, Acne inversa OMIM:608068
Attenuated Chédiak-Higashi Syndrome
Bruising susceptibility, Skin ulcer, Gingival bleeding ORPHA:352723
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ... OMIM:119600
Liang-Wang Syndrome
Gingival overgrowth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Macrog... OMIM:618729
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Ichthyosis, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Abnormal antihelix... ORPHA:1005
Relapsing Polychondritis
Myocarditis, Purpura, Recurrent aphthous stomatitis, Inflammatory abnormality of the eye, Sensori... ORPHA:728
Neuropathy, Hereditary Sensory, Type If
Osteolytic defects of the phalanges of the hand, Hyperkeratosis, Metatarsal fracture, Hallux valg... OMIM:615632
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Bicoronal synostosis, Tracheobronchomalacia, Dental crowding, Oligodontia, Hypodontia, Joint stif... OMIM:619184
Skin rash, Papule, Pericarditis, Shawl sign, Palmar hyperkeratosis, Cellulitis, Chondrocalcinosis... ORPHA:221
Blau Syndrome
Ichthyosis, Skin ulcer, Erythema, Abnormal salivary gland morphology, Skin rash, Posterior uveiti... ORPHA:90340
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition OMIM:125440
Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis, Dry skin ORPHA:461
Singleton-Merten Syndrome 2
Osteopenia, Osteolytic defects of the phalanges of the hand, Psoriasiform lesion, Hyperkeratosis,... OMIM:616298
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Bilateral single transverse palmar creases, Hypodontia, Bilateral cleft palate, Abnormal dental e... ORPHA:3253
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Skin tags, Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors, Anteverted ... OMIM:610706
Peeling Skin Syndrome 5
Scaling skin, Hyperkeratosis OMIM:617115
Osteogenesis Imperfecta, Type V
Osteopenia, Anterior radial head dislocation, Hyperextensibility of the finger joints, Hyperexten... OMIM:610967
Bardet-Biedl Syndrome 16
Hearing impairment, Polydactyly, Recurrent otitis media, Respiratory distress OMIM:615993
Orofaciodigital Syndrome Type 5
Supernumerary tooth, High, narrow palate, Absent cupid's bow, Agenesis of canine, Cleft soft pala... ORPHA:2919
Moebius Syndrome
Radial deviation of finger, Respiratory distress, Abnormal pinna morphology, High palate, Abnorma... OMIM:157900
Osteogenesis Imperfecta, Type Xxii
Reduced bone mineral density, Bowing of the long bones, Hearing impairment, Multiple prenatal fra... OMIM:619795
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Respiratory distress, Abnormality of the philtrum, Low-set ears, ... ORPHA:2759
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Limited elbow extension, Distal symphalangism, Retrognathia, Clinodactyly of the 5th finger, Ulna... OMIM:210720
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Generalized lipodystrophy, Loss of facial adipose tissue, L... OMIM:608612
Adult Syndrome
Skin ulcer, Finger syndactyly, Dry skin, Abnormality of the dentition, Abnormal dental morphology... ORPHA:978
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Joint contracture of the 5th finger, Sensorineural hearing impairment, Hyperkeratosis, Hidrotic e... ORPHA:1883
Herpes Simplex Virus Stromal Keratitis
Herpetiform vesicles, Keratitis ORPHA:137599
Dentinogenesis Imperfecta, Shields Type Iii
Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Snakebite Envenomation
Localized skin lesion, Gingival bleeding, Angioedema, Ecchymosis, Erythema ORPHA:449285
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Immunodeficiency 23
Erythema, Sensorineural hearing impairment, Chronic mucocutaneous candidiasis, High palate, Mollu... OMIM:615816
Arthrogryposis And Ectodermal Dysplasia
Orofacial cleft, Abnormal dental enamel morphology, Hyperkeratosis, Oligodontia, Ectodermal dyspl... OMIM:601701
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perioral erythema, Perianal erythema, Blepharitis, Pustule, Erythroderma OMIM:614328
Oculodentodigital Dysplasia
Vertebral hyperostosis, Cubitus valgus, Joint contracture of the 5th finger, Broad alveolar ridge... OMIM:164200
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Bilateral single transverse palmar creases, Retrognathia, Sensorineural hearing impairment, Umbil... OMIM:235510
Toxic Epidermal Necrolysis
Skin ulcer, Pancreatitis, Respiratory distress, Macule, Conjunctivitis, Acantholysis, Erythema ORPHA:537
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Fused cervical vertebrae, Respiratory distress, Stomatitis, Hyperkeratos... OMIM:612852
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Retrognathia, Sensorineural hearing impairment, Tibial bowing, Thickened skin, Skin ... OMIM:601812
Cleidocranial Dysplasia
Chronic otitis media, Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal metacarpal ... ORPHA:1452
Muscular Hypertonia, Lethal
Pneumonia, Umbilical hernia, Respiratory distress OMIM:254120
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Erythematous papule, Skin ulcer, Panniculitis, Erythematous plaque ORPHA:86884
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Ichthyosis, Acanthosis nigricans, Jaundice, Scarring alopecia of scalp, Abnormal dental enamel mo... ORPHA:59303
Localized skin lesion, Pneumonia, Inflammatory abnormality of the eye, Respiratory distress, Oral... ORPHA:3392
Scarf Syndrome
Lambdoidal craniosynostosis, Inguinal hernia, Low-set ears, Cutis laxa, Coronal craniosynostosis,... OMIM:312830
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Congenital Myopathy 10A, Severe Variant
Respiratory distress, High palate, Camptodactyly of finger, Cleft palate, Talipes equinovarus OMIM:614399
Marshall Syndrome
Small proximal tibial epiphyses, Sensorineural hearing impairment, Bifid uvula, Irregular femoral... OMIM:154780
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Pustule, Pruritus, Erythema ORPHA:48377
Xfe Progeroid Syndrome
Cutaneous photosensitivity, Prematurely aged appearance, Premature loss of teeth, Dry skin, Corne... OMIM:610965
Osteogenesis Imperfecta, Type Xiii
Long philtrum, Thin vermilion border, Reduced bone mineral density, Limitation of knee mobility, ... OMIM:614856
Gaucher Disease, Perinatal Lethal
Retrognathia, Purpura, Ichthyosis, Everted upper lip vermilion, Respiratory distress, Petechiae, ... OMIM:608013
Atypical Werner Syndrome
Premature graying of hair, Rocker bottom foot, Lipoatrophy, Reduced bone mineral density, Chondro... ORPHA:79474
Adult Polyglucosan Body Disease
Skin ulcer, Limitation of joint mobility ORPHA:206583
Cohen Syndrome
High, narrow palate, Genu valgum, Cubitus valgus, Short metatarsal, Short philtrum, Single transv... OMIM:216550
Heimler Syndrome 1
Amelogenesis imperfecta, Sensorineural hearing impairment, Enamel hypoplasia OMIM:234580
Beta-Thalassemia Major
Skin ulcer, Jaundice, Genu valgum, Dyspnea, Abnormality of the dentition, Osteoporosis, Bowing of... ORPHA:231214
Developmental And Epileptic Encephalopathy 66
Widely spaced teeth, Clinodactyly of the 5th finger, Everted lower lip vermilion, Downturned corn... OMIM:618067
Blau Syndrome
Iritis, Skin ulcer, Flexion contracture of toe, Intermittent generalized erythematous papular ras... OMIM:186580
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin OMIM:602723
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
High palate, Dry skin, Joint contracture, Joint hypermobility, Follicular hyperkeratosis OMIM:617066
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Purpura, Recurrent otitis media, Panniculitis, Skin ulcer, Arthritis, Skin rash, Oral ulcer, Ecze... OMIM:615688
Nail-Patella Syndrome
Reduced bone mineral density, Abnormal femur morphology, Dislocated radial head, Contracture of t... ORPHA:2614
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Foot osteomyelitis, Sensorineural hearing impairment, Acral ulceration, Osteomyelitis OMIM:162400
Incontinentia Pigmenti
Scarring, Maculopapular exanthema, Conical tooth, Delayed eruption of teeth, Hyperkeratosis, Olig... OMIM:308300
Osteogenesis Imperfecta, Type I
Osteopenia, Otosclerosis, Femoral bowing, Hearing impairment, Thin skin, Dentinogenesis imperfect... OMIM:166200
Lacrimoauriculodentodigital Syndrome 3
Widely spaced teeth, Microtia, Hearing impairment, Carious teeth, Enamel hypoplasia, Partial dupl... OMIM:620193
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Mixed hearing impairment, Microdontia, Arachnodactyly, Slender long bones with narrow diaphyses, ... ORPHA:536467
Eec Syndrome
Proximal placement of thumb, Inflammatory abnormality of the eye, Sensorineural hearing impairmen... ORPHA:1896
Mandibuloacral Dysplasia
Lipoatrophy, Acanthosis nigricans, Abnormal tongue morphology, Dental crowding, Loss of subcutane... ORPHA:2457
Orofaciodigital Syndrome I
Radial deviation of finger, Syndactyly, Tongue nodules, Clinodactyly, Alveolar ridge overgrowth, ... OMIM:311200
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Abnormality of primary teeth, Dry skin, Tooth agenesis, Th... OMIM:150400
Cranioectodermal Dysplasia 1
Radial deviation of finger, Everted lower lip vermilion, Microdontia, Short humerus, Short distal... OMIM:218330
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Deviation of the 5th toe, Long philtrum, Slender toe, Short philtrum, Sensorineural hearing impai... ORPHA:391408
Pseudohypoparathyroidism, Type Ic
Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Enamel hypoplasia, B... OMIM:612462
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Scaling skin, Generalized hyperkeratosis, Generalized ichthyosis, Dry skin, Cutis laxa, Eclabion ORPHA:2269
Ifap Syndrome 2
Ichthyosis follicularis, Perioral erythema, Angular cheilitis, Posterior blepharitis, Keratitis, ... OMIM:619016
Oculocerebrorenal Syndrome Of Lowe
Chronic otitis media, Cheilitis, Dental crowding, Everted lower lip vermilion, Tooth agenesis, Jo... ORPHA:534
Myasthenic Syndrome, Congenital, 6, Presynaptic
Arthrogryposis multiplex congenita, Apneic episodes precipitated by illness, fatigue, stress, Sud... OMIM:254210
Oculodentodigital Dysplasia
Broad alveolar ridges, Abnormal pinna morphology, Tooth agenesis, Umbilical hernia, Clinodactyly,... ORPHA:2710
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Subperiosteal bone resorption, Delayed epiphyseal ossification, Delayed eruption of teet... ORPHA:289157
Nance-Horan Syndrome
Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incisors, Macrotia, Short phala... OMIM:302350
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Brittle Cornea Syndrome 1
Molluscoid pseudotumors, Hearing impairment, Dentinogenesis imperfecta, Joint hypermobility, Atyp... OMIM:229200
Short Syndrome
Abnormal zygomatic bone morphology, Excessive wrinkled skin, Inguinal hernia, Sensorineural heari... ORPHA:3163
Kniest Dysplasia
Recurrent otitis media, Rhizomelia, Inguinal hernia, Delayed epiphyseal ossification, Abnormal ca... OMIM:156550
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Broad metatarsal, Long philtrum, Joint hypermobility, Short philtrum, Bilateral... ORPHA:439822
Pseudohypoparathyroidism Type 1C
Short 4th metacarpal, Short metatarsal, Delayed eruption of teeth, Increased bone mineral density... ORPHA:79444
Congenital Disorder Of Glycosylation, Type Iq
Ichthyosis, Hyperkeratosis, Low-set ears, Dry skin, Eczematoid dermatitis, Cutis laxa OMIM:612379
Olmsted Syndrome 2