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
Palmoplantar keratoderma, Oral mucosal blisters, Enamel hypoplasia, Scarring alopecia of scalp, A... ORPHA:79402
Severe Generalized Junctional Epidermolysis Bullosa
Mitten deformity, Recurrent skin infections, Pneumonia, Gastrointestinal inflammation, Enamel hyp... ORPHA:79404

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
Mitten deformity, Keloids, Pruritus, Oral mucosal blisters, Atypical scarring of skin, Carious te... ORPHA:79410
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritis on abdomen, Pruritus, Parakeratosis, Striae distensae, Pruritus on foot, Facial erythema... ORPHA:64745
Porokeratosis Plantaris Palmaris Et Disseminata
Pruritus, Abnormal skin morphology of the palm, Annular cutaneous lesion, Palmoplantar hyperkerat... ORPHA:737
Mal De Meleda
Palmoplantar keratoderma, Ichthyosis, Superficial dermal perivascular inflammatory infiltrate, Fl... ORPHA:87503
Chilblain Lupus
Cutis marmorata, Asthma, Pruritis on hand, Hyperkeratosis, Malar rash, Discoid lupus rash, Inflam... ORPHA:90280
Dowling-Degos Disease
Epidermoid cyst, Pruritus, Acne inversa, Digital pitting scar, Hypopigmented macule, Erythematous... ORPHA:79145
Darier Disease
Pruritus, Palmoplantar keratoderma, Acrokeratosis, Plantar pits, Macule, Hypermelanotic macule, S... ORPHA:218
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Papule, Skin ulcer ORPHA:2337
Autosomal Dominant Hyper-Ige Syndrome
Cellulitis, Pruritus, Osteopenia, Delayed eruption of teeth, Craniosynostosis, Recurrent fracture... ORPHA:2314
Pemphigus Foliaceus
Pruritus, Abnormal oral mucosa morphology, Annular cutaneous lesion, Acantholysis, Erythema, Eryt... ORPHA:79481
Cutaneous Mastocytoma
Telangiectasia macularis eruptiva perstans, Pruritus, Angioedema, Maculopapular exanthema, Dermat... ORPHA:79455
Acquired Ichthyosis
Palmoplantar keratoderma, Recurrent skin infections, Ichthyosis, Pruritus, Erythema, Papule, Hype... ORPHA:454
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Atrophoderma Vermiculata
Pruritus, Erythema, Periauricular skin pits, Atrophic scars, Follicular hyperkeratosis, Hypoplast... ORPHA:79100
Familial Benign Chronic Pemphigus
Erythema, Skin vesicle, Skin erosion ORPHA:2841
Erythema Elevatum Diutinum
Skin nodule, Skin vesicle ORPHA:90000
Necrobiosis Lipoidica
Abnormality of the forearm, Annular cutaneous lesion, Erythema, Papule, Atrophic scars, Telangiec... ORPHA:542592
Keratoderma Hereditarium Mutilans With Ichthyosis
Palmoplantar keratoderma, Orthokeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Honeycomb p... ORPHA:79395
Lichen Planus Pemphigoides
Blepharitis, Pruritus, Abnormal oral mucosa morphology, Hyperkeratosis, Skin vesicle, Conjunctivitis ORPHA:254478
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Ichthyosis, Orthokeratosis, Cholangitis, Enamel hypoplasia, Parakeratosis, Hypodontia, Oligodonti... OMIM:607626
Ichthyosis, Congenital, Autosomal Recessive 6
Palmoplantar keratoderma, Orthokeratosis, Parakeratosis, Hyperkeratosis, Erythroderma, Generalize... OMIM:612281
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Pruritus, Parakeratosis, Skin fragility with non-scarring blistering, Skin vesicle ORPHA:158681
Juvenile Hyaline Fibromatosis
Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Joint stiffness, Gingival fibro... ORPHA:2028
Classic Mycosis Fungoides
Pruritus, Hypopigmented skin patches, Erythema, Hyperkeratosis, Eczema, Skin ulcer, Skin plaque, ... ORPHA:2584
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Decreased movement range in interphalangeal joints, Diffuse palmoplantar hyperkeratosis, Erythema... ORPHA:530838
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Abnormal oral mucosa morphology, Sensorineu... ORPHA:659
Acrokeratoelastoidosis Of Costa
Orthokeratosis, Piezogenic pedal papules, Palmoplantar hyperkeratosis, Hypergranulosis, Hyperkera... ORPHA:38
Iga Pemphigus
Neutrophilic infiltration of the skin, Pruritus, Oral mucosal blisters, Cutaneous abscess, Annula... ORPHA:555905
Erythrokeratodermia Variabilis
Brachydactyly, Cutaneous photosensitivity, Erythema, Tapered finger, Hyperkeratosis, Macule, Prot... ORPHA:317
Cellulitis, Pruritus, Flexion contracture, Limitation of joint mobility, Subcutaneous nodule, Ski... ORPHA:231
Prolidase Deficiency
Pruritus, Palmoplantar keratoderma, Bilateral single transverse palmar creases, Carious teeth, Cu... ORPHA:742
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
Erythema, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Ichthyosis OMIM:607602
Progressive Symmetric Erythrokeratodermia
Erythema, Palmoplantar keratoderma, Skin plaque ORPHA:316
Ichthyosis, Congenital, Autosomal Recessive 8
Ichthyosis, Orthokeratosis, Erythema, Hyperkeratosis, Hypergranulosis OMIM:613943
Dermatitis, Atopic
Pruritus, Recurrent skin infections, Ichthyosis, Dry skin, Asthma, Facial erythema, Eczema, Aller... OMIM:603165
Sjögren-Larsson Syndrome
Ichthyosis, Joint stiffness, Inflammatory abnormality of the eye, Erythema, Urticaria, Hyperkerat... ORPHA:816
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Anonychia With Flexural Pigmentation
Abnormal skin morphology of the palm, Carious teeth, Hyperkeratosis, Hypermelanotic macule, Folli... ORPHA:69125
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Er... OMIM:617526
Ectodermal Dysplasia-Syndactyly Syndrome 2
Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Enamel hypoplasia, Ectod... OMIM:613576
Erythrokeratodermia Variabilis Et Progressiva 3
Hyperkeratosis, Erythema, Palmoplantar keratoderma, Hypergranulosis OMIM:617525
Hennekam-Beemer Syndrome
High palate, Pruritus, Pneumonia, Camptodactyly of finger, Conductive hearing impairment, Clinoda... ORPHA:2135
Porokeratosis Of Mibelli
Pruritus, Cutaneous photosensitivity, Hyperkeratosis, Porokeratosis, Aplasia/Hypoplasia of the skin ORPHA:735
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Oral mucosal blisters, Hypomelanotic macule, Palmar hyperkeratosis, Papule, Hyperkerato... ORPHA:79399
Dentinogenesis Imperfecta
Hyperextensibility at elbow, Bruising susceptibility, Finger joint hypermobility, Knee joint hype... ORPHA:49042
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections, Papule OMIM:244850
Cutaneous Small Vessel Vasculitis
Cutis marmorata, Recurrent skin infections, Erythema, Urticaria, Papule, Abnormal oral cavity mor... ORPHA:889
Maculopapular Cutaneous Mastocytosis
Pruritus, Dermatographic urticaria, Erythema, Darier's sign, Dyspnea, Macule, Flushing, Generaliz... ORPHA:79457
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Punctate keratitis, Enamel hypoplasia, Palmoplantar hyperkeratosis, Carious teeth, Scarring alope... OMIM:226670
Aquagenic Palmoplantar Keratoderma
Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Orthokeratotic hyperkeratosis, White papule... ORPHA:498359
Dermatitis Herpetiformis
Pruritus, Recurrent fractures, Erythema, Urticaria, Eczema, Macule, Skin vesicle ORPHA:1656
Junctional Epidermolysis Bullosa Inversa
Oral mucosal blisters, Gastrointestinal inflammation, Enamel hypoplasia, Carious teeth, Localized... ORPHA:79405
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Pruritus, Papule, Skin ulcer, Aplasia/Hypoplasia of the skin ORPHA:409
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Recurrent pneumonia, Craniosynostosis, Osteopenia, Recurrent fractures, Cutaneous ab... OMIM:147060
Autosomal Dominant Epidermolytic Ichthyosis
Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Ichthyosis, Cutaneous ph... ORPHA:312
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Orthokeratotic hyperkeratosis, Erythema, Hyperkeratosis, Scaling skin OMIM:617571
Palmoplantar Keratoderma And Congenital Alopecia 2
Palmoplantar hyperkeratosis, Sclerodactyly, Facial erythema, Hyperkeratosis, Camptodactyly of fin... OMIM:212360
Peeling Skin Syndrome 4
Palmoplantar keratoderma, Ichthyosis, Orthokeratosis, Hyperkeratosis, Scaling skin OMIM:607936
Jessner Lymphocytic Infiltration Of The Skin
Pruritus, Erythema, Papule, Cutaneous photosensitivity, Skin plaque ORPHA:33314
Pressure-Induced Localized Lipoatrophy
Erythema, Lipoatrophy, Reduced subcutaneous adipose tissue, Skin nodule, Absence of subcutaneous ... ORPHA:90160
Erosive Pustular Dermatosis Of The Scalp
Scarring alopecia of scalp, Erythema, Pustule, Skin erosion ORPHA:222
Acral Peeling Skin Syndrome
Ichthyosis, Erythema, Papule, Eczema, Macule, Scaling skin, Excessive wrinkling of palmar skin, S... ORPHA:263534
Dermatoosteolysis, Kirghizian Type
Flexion contracture, Oligodontia, Osteolysis, Keratitis, Skin ulcer, Split hand, Joint contractur... OMIM:221810
Pityriasis Rubra Pilaris
Palmoplantar keratoderma, Orthokeratosis, Parakeratosis, Erythematous plaque, Hypergranulosis, Su... OMIM:173200
Rare Cutaneous Lupus Erythematosus
Neutrophilic infiltration of the skin, Nail bed telangiectasia, Maculopapular exanthema, Psoriasi... ORPHA:535
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Oral mucosal blisters, Enamel hypoplasia, Scarring alopecia of scalp, A... ORPHA:79402
Chronic Mucocutaneous Candidiasis
Abnormal lip morphology, Pruritus, Erythema, Papule, Cough, Hyperkeratosis, Cheilitis, Abnormal d... ORPHA:1334
Aplasia Cutis Congenita
Toe syndactyly, Congenital localized absence of skin, Finger syndactyly, Aplasia cutis congenita ... ORPHA:1114
Aplasia/Hypoplasia of the skin, Prematurely aged appearance, Lipoatrophy, Micrognathia, Telangiec... ORPHA:2500
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Oral mucosal blisters, Milia, Palmoplantar hyperkeratosis, Palmoplantar blistering, Atr... ORPHA:89838
Intellectual Disability And Myopathy Syndrome
Achilles tendon contracture, Cutis marmorata, Sleep apnea, Widely-spaced maxillary central inciso... OMIM:619719
Dermatofibrosarcoma Protuberans
Subcutaneous nodule, Skin ulcer, Erythema, Thickened skin ORPHA:31112
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis, Milia, Palmoplantar blistering OMIM:131800
Chilblain Lupus 1
Skin ulcer, Autoamputation of digits, Chilblains OMIM:610448
Panniculitis-Induced Localized Lipodystrophy
Vasculitis in the skin, Erythema, Lipoatrophy, Reduced subcutaneous adipose tissue, Skin nodule, ... ORPHA:90159
Lichen Planopilaris
Pruritus, Hypopigmented skin patches, Dermal atrophy, Papule, Hyperkeratosis, Hepatitis, Neoplasm... ORPHA:525
Wells Syndrome
Skin vesicle ORPHA:901
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Hyperkeratosis, Erythroderma, Eclabion, Hypergranulosis, Congenital nonbullous ic... OMIM:615023
Idiopathic Localized Lipodystrophy
Pruritus, Erythema, Scleroderma, Morphea, Reduced subcutaneous adipose tissue, Lipoatrophy, Absen... ORPHA:90158
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Amelogenesis imperfecta, Skin ulcer OMIM:245660
Odontoonychodermal Dysplasia
Agenesis of permanent teeth, Palmoplantar hyperhidrosis, Smooth tongue, Orthokeratosis, Abnormali... OMIM:257980
Transgrediens Et Progrediens Palmoplantar Keratoderma
Recurrent cutaneous fungal infections, High palate, Diffuse palmoplantar hyperkeratosis, Palmar h... ORPHA:495
Isolated Congenital Hypoglossia/Aglossia
Temporomandibular joint ankylosis, Micrognathia, Dyspnea, Microglossia, Aplasia/Hypoplasia of fin... ORPHA:141152
Pyoderma Gangrenosum
Myositis, Papule, Inflammation of the large intestine, Rheumatoid arthritis, Pustule, Skin ulcer,... ORPHA:48104
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Hypodontia, Enamel hypoplasia, Asthma OMIM:616029
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis, Multiple cafe-au-lait spots, Cutaneous photosensitivity, Papule ORPHA:1336
Erythema Of Acral Regions
Abnormality of the dentition, Talipes equinovarus, Erythema OMIM:227000
Hereditary Sensory And Autonomic Neuropathy Type 1
Penetrating foot ulcers, Cough, Poor wound healing, Hyperkeratosis, Osteomyelitis, Pathologic fra... ORPHA:36386
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Short philtrum, Orthokeratosis, Acne inversa, Hyperkeratosis, Natal tooth OMIM:617337
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Scarring alopecia of scalp, Erythema, Pustule, Scarring ORPHA:346
Vulvovaginal Gingival Syndrome
Pruritus, Parakeratosis, Erythema, Oral ulcer, Gingivitis, Skin erosion ORPHA:83453
Ichthyosis, Congenital, Autosomal Recessive 5
Palmoplantar keratoderma, Orthokeratosis, Parakeratosis, Erythroderma, Congenital nonbullous icht... OMIM:604777
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema, Palmoplantar keratoderma OMIM:617524
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Palmoplantar keratoderma, Blepharitis, Enamel hypoplasia, Scarring alopecia of scalp, Carious tee... OMIM:612843
Dermatoosteolysis, Kirghizian Type
Brachydactyly, Aplasia/Hypoplasia of the skin, Oligodontia, Osteoarthritis, Abnormality of the wr... ORPHA:1657
Familial Reactive Perforating Collagenosis
Pruritus, Perifolliculitis, Abnormal oral mucosa morphology, Maculopapular exanthema, Inflammator... ORPHA:79147
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Dermal atrophy, Milia, Palmoplantar hyperkeratosis, Erythema, Cutaneous photosensitivity, Erythem... ORPHA:158673
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Ichthyosis, Flexion contracture, Asthma, Erythema, Hyperkeratosis, Inguinal hernia, Scaling skin,... OMIM:614457
Parana Hard Skin Syndrome
Tapered finger, Hyperkeratosis, Respiratory insufficiency, Restricted chest movement, Thickened skin ORPHA:2812
Cutaneous Collagenous Vasculopathy
Bruising susceptibility, Petechiae, Pruritus, Vascular skin abnormality, Erythema, Prominent supe... ORPHA:280779
Mal De Meleda
Brachydactyly, Ichthyosis, Congenital symmetrical palmoplantar keratosis, Perioral erythema OMIM:248300
Late-Onset Junctional Epidermolysis Bullosa
Oral mucosal blisters, Enamel hypoplasia, Carious teeth, Localized skin lesion, Fragile skin ORPHA:79406
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Dermal atrophy, Carious teeth, Osteoporosis, Inc... OMIM:136300
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Mitten deformity, Atypical scarring of skin, Enamel hypoplasia, Scarring alop... ORPHA:251393
Congenital Panfollicular Nevus
Hyperkeratosis, Skin nodule, Verrucous papule ORPHA:139414
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Palmoplantar keratoderma, Ichthyosis, Pruritus, Parakeratosis, Erythema, Hyperkeratosis, Tooth ag... OMIM:615821
Ollier Disease
Multiple enchondromatosis, Joint stiffness, Micromelia, Subcutaneous nodule, Abnormal cartilage m... ORPHA:296
Isolated Agammaglobulinemia
Sinusitis, Cellulitis, Pneumonia, Inflammatory abnormality of the eye, Otitis media, Clinodactyly... ORPHA:229717
Localized Scleroderma
Uveitis, Upper limb asymmetry, Hashimoto thyroiditis, Localized skin lesion, Abnormality of upper... ORPHA:90289
Naegeli-Franceschetti-Jadassohn Syndrome
Dry skin, Enamel hypoplasia, Palmoplantar hyperkeratosis, Carious teeth, Supernumerary tooth, Yel... ORPHA:69087
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Dermal atrophy, Papule, Abnormal dental enamel morphology, Aplasia/Hypoplasia of the skin, Skin v... ORPHA:257
Otodental Dysplasia
Tooth ankylosis, Long philtrum, Delayed eruption of teeth, Pulp calcification, Enamel hypoplasia,... OMIM:166750
Ulerythema Ophryogenesis
Dermal atrophy, Erythematous papule, Acne, Facial erythema, Contact dermatitis, Follicular hyperk... ORPHA:3406
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Clinodactyly of the 5th finger, Preaxial polydactyly, Carious teeth, Midline n... OMIM:129540
Reynolds Syndrome
Pruritus, Mucosal telangiectasiae, Infectious encephalitis, Sclerodactyly, Jaundice, Telangiectas... ORPHA:779
Hypotrichosis And Recurrent Skin Vesicles
Follicular hyperkeratosis, Skin vesicle, Angular cheilitis OMIM:613102
Angioma Serpiginosum
Macule, Erythema, Vascular skin abnormality ORPHA:95429
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Dermal atrophy, Abnormality of the forearm, Papule, Atrophic scars, Hyperkeratosis, Sub... ORPHA:89843
Sydenham Chorea
Septic arthritis, Erythema, Movement abnormality of the tongue, Endocarditis ORPHA:306731
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Asthma, Recurrent sinusitis, Atopic dermatitis, Chronic otitis media, Recurrent bacter... ORPHA:217390
Familial Cold Autoinflammatory Syndrome 3
Cold urticaria, Recurrent otitis media, Pruritus, Angioedema, Hashimoto thyroiditis, Asthma, Derm... OMIM:614468
Hereditary Acrokeratotic Poikiloderma
Trismus, Open bite, Abnormal pigmentation of the oral mucosa, Telangiectasia of the skin, Skin ul... ORPHA:2907
Limited Cutaneous Systemic Sclerosis
Contractures involving the joints of the feet, Mucosal telangiectasiae, Hypopigmented skin patche... ORPHA:220402
Ramon Syndrome
Delayed eruption of teeth, Conductive hearing impairment, Gingival fibromatosis, Sensorineural he... ORPHA:3019
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Palmoplantar keratoderma, Recurrent skin infections, Orthokeratosis, Acantholysis, Erythroderma, ... OMIM:615508
Vibratory Urticaria
Flushing, Urticaria, Facial erythema OMIM:125630
Infantile Systemic Hyalinosis
Brachydactyly, Thickened skin, Osteopenia, Joint stiffness, Recurrent fractures, Short palm, Urti... ORPHA:2176
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Ichthyosis, Flexion contracture, Diffuse palmoplantar hyperkeratosis, ... ORPHA:79503
Dyskeratosis Congenita
Blepharitis, Osteoporosis, Telangiectasia of the skin, Skin ulcer, Coarse metaphyseal trabeculari... ORPHA:1775
Temtamy Preaxial Brachydactyly Syndrome
Partial duplication of the proximal phalanx of the 3rd finger, Severe sensorineural hearing impai... ORPHA:363417
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Angioedema, Erythema, Swollen lip, Upper airway obstruction, Respiratory distress, Tongue edema ORPHA:100057
Pruritus, Petechiae, Erythema nodosum, Stiff interphalangeal joints, Periostitis, Joint stiffness... ORPHA:324625
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Purpura, Pulmonary embolism, Thin skin, Skin ulcer, Subcutaneous ... ORPHA:743
48,Xyyy Syndrome
High palate, Long philtrum, Enamel hypoplasia, Asthma, Dislocated radial head, Thick lower lip ve... ORPHA:99329
Lethal Osteosclerotic Bone Dysplasia
Low-set ears, Gingival fibromatosis, Respiratory failure, Micrognathia, Dyspnea, Mandibular aplas... ORPHA:1832
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
High palate, Clubbing, Osteopenia, Limitation of joint mobility, Palmoplantar hyperkeratosis, Ery... OMIM:259100
Sweet Syndrome
Myositis, Acne inversa, Acne, Abnormality of the hand, Inflammation of the large intestine, Eryth... ORPHA:3243
Flynn-Aird Syndrome
Joint stiffness, Dermal atrophy, Carious teeth, Progressive sensorineural hearing impairment, Bon... ORPHA:2047
Keratoderma Hereditarium Mutilans
Ichthyosis, Sensorineural hearing impairment, Honeycomb palmoplantar hyperkeratosis, Papule, Hype... ORPHA:494
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Widely spaced teeth, Increased overbite OMIM:617297
Vohwinkel Syndrome, Variant Form
Hyperkeratosis, Orthokeratosis, Hypergranulosis, Parakeratosis OMIM:604117
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Rosaï-Dorfman Disease
Subcutaneous nodule, Erythema, Papule, Osteolysis ORPHA:158014
Ichthyosis, Congenital, Autosomal Recessive 3
Palmoplantar keratoderma, Ichthyosis, Erythema, Hyperkeratosis, Eclabion, Congenital nonbullous i... OMIM:606545
Corneodermatoosseous Syndrome
Brachydactyly, Palmoplantar keratoderma, Short palm, Carious teeth, Erythema, Abnormality of the ... ORPHA:3194
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Subcutaneous nodule ORPHA:2297
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Erythema, Early cutaneous photosensitivity OMIM:219095
Elastosis Perforans Serpiginosa
Annular cutaneous lesion, Cutis laxa, Serpiginous cutaneous lesion, Crusting erythematous dermati... ORPHA:79148
Proliferating Trichilemmal Cyst
Skin ulcer, Epidermoid cyst ORPHA:492
Dowling-Degos Disease 2
Follicular hyperkeratosis, Hypomelanotic macule, Hyperkeratotic papule OMIM:615327
Palmoplantar Keratoderma, Punctate Type Ia
Hypergranulosis, Orthokeratosis, Punctate palmoplantar hyperkeratosis OMIM:148600
Hypotrichosis 6
Follicular hyperkeratosis, Erythema, Pruritus OMIM:607903
Shaheen Syndrome
Palmoplantar hyperkeratosis, Carious teeth, Enamel hypoplasia OMIM:615328
Bullous Impetigo
Recurrent bacterial skin infections, Septic arthritis, Erythema, Pustule ORPHA:36237
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis, Joint stiffness OMIM:617756
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Yellow-brown discoloration of the teeth, ... ORPHA:1028
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Erythema, Urticaria, Hypermelanotic macule OMIM:154800
Keratosis Pilaris Atrophicans
Comedo, Erythema, Papule OMIM:604093
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Pruritus OMIM:146750
Prolidase Deficiency
High palate, Recurrent pneumonia, Petechiae, Asthma, Micrognathia, Eczema, Chronic lung disease, ... OMIM:170100
Hall-Riggs Mental Retardation Syndrome
Brachydactyly, Enamel hypoplasia, U-Shaped upper lip vermilion, Thick lower lip vermilion, Microd... OMIM:234250
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Palmoplantar hyperkeratosis, Carious teeth, Hepatitis, Thick vermilion border ORPHA:363523
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Slender finger, Metaphyseal irregularity, Short femoral neck, Discolored ... OMIM:601668
Pruritus, Atypical scarring of skin, Vascular skin abnormality, Hypopigmented skin patches, Annul... ORPHA:182
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Flexion contracture, Carious teeth, Large fleshy ears, Generalized hypoplasia of dental enamel, S... OMIM:203550
Perching Syndrome
High palate, Camptodactyly, Flexion contracture, Respiratory distress OMIM:617055
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent frontal sinuses, Clinodactyly of the 5th finger, Micrognathia, Small hand, Thin upper l... OMIM:170390
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent skin infections, Bronchiectasis, Recurrent sinusitis, Pyoderma gan... OMIM:616576
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Skin ulcer, Acral ulceration, Foot osteomyelitis ORPHA:139578
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Sensorineural hearing impairment, Palmoplantar keratoderma ORPHA:2202
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Palmoplantar keratoderma, Blepharitis, Dry skin, Scarring alopecia of scalp, Facial erythema, Ker... OMIM:308800
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Fountain Syndrome
Brachydactyly, Abnormal palate morphology, Cutis marmorata, Craniofacial hyperostosis, Sensorineu... ORPHA:3219
Incontinentia Pigmenti
Uveitis, Telangiectasia of the skin, Keratitis, Skin ulcer, Skin rash, Deviation of finger, Infec... ORPHA:464
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis, Papule ORPHA:315
Acrokeratosis Verruciformis
Hyperkeratosis, Acrokeratosis OMIM:101900
Pfeiffer-Palm-Teller Syndrome
Joint stiffness, Enamel hypoplasia, Abnormal pinna morphology ORPHA:2871
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Cellulitis, Hypopigmented skin patches, Arthritis, Sensorineural ... ORPHA:47
Porphyria Variegata
Proximal muscle weakness in upper limbs, Cutaneous photosensitivity, Localized skin lesion, Respi... ORPHA:79473
Lichtenstein Syndrome
Single transverse palmar crease, Metacarpophalangeal joint contracture, Enamel hypoplasia, Cariou... OMIM:246550
Ichthyosis, Congenital, Autosomal Recessive 2
Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Everted lower lip vermilion, Ery... OMIM:242100
Pachyonychia Congenita
Oral leukoplakia, Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Eruptive vellus hair cyst... ORPHA:2309
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cellulitis, Sterile arthritis, Colitis, Acne, Cystic acne, Knee flexion contracture, Pyoderma gan... OMIM:604416
Bare Lymphocyte Syndrome, Type I
Emphysema, Bronchiectasis, Chronic otitis media, Skin ulcer, Chronic sinusitis OMIM:604571
Micrognathia, Small hand, Brachydactyly, High palate, Increased bone mineral density, Enamel hypo... ORPHA:763
Auriculocondylar Syndrome
Bifid uvula, Question mark ear, Micrognathia, Hamartoma of tongue, Mandibular condyle aplasia, Cl... ORPHA:137888
Diffuse Cutaneous Systemic Sclerosis
Flexion contracture, Carious teeth, Dyspnea, Pulmonary arterial hypertension, Telangiectasia of t... ORPHA:220393
Keratolytic Winter Erythema
Erythema, Pustule ORPHA:50943
Microscopic Polyangiitis
Sinusitis, Uveitis, Cutis marmorata, Arthritis, Peritonitis, Increased inflammatory response, Ery... ORPHA:727
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Palmoplantar hyperkeratosis, Hypergranulosis OMIM:617574
Glutamine Deficiency, Congenital
Flexion contracture, Low-set ears, Erythema, Micromelia, Neonatal respiratory distress, Apnea, Ca... OMIM:610015
Peeling Skin Syndrome 1
Asthma, Erythema, Pruritus, Scaling skin OMIM:270300
Hepatitis, Pallor, Respiratory insufficiency, Skin ulcer, Reduced bone mineral density ORPHA:848
Psoriasis 14, Pustular
Cholangitis, Parakeratosis, Erythema, Oligoarthritis, Furrowed tongue, Psoriasiform dermatitis, P... OMIM:614204
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Meige Disease
Cobblestone-like hyperkeratosis, Cellulitis, Recurrent skin infections, Atypical scarring of skin... ORPHA:90186
Keratolytic Winter Erythema
Palmoplantar hyperhidrosis, Erythema OMIM:148370
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Conical tooth, Widely spaced teeth, Palmar hyperkeratosis, Ectodermal dysplasi... OMIM:613573
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormal trabecular bone morphology, Abnormality of primary teeth, Ab... ORPHA:83451
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Microdontia, Anterior open-bite malocclusion, Enamel hypoplasia OMIM:301200
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Myositis, Limitation of joint mobility, Increased inflammatory response, Acne, P... ORPHA:69126
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Telangiectasia, Carious teeth, Enamel hypoplasia OMIM:614564
Fixed Drug Eruption
Skin detachment, Erythema, Erythematous plaque, Crusting erythematous dermatitis, Oral ulcer, Gen... ORPHA:293812
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Drug-Induced Localized Lipodystrophy
Erythema, Lipoatrophy, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat ORPHA:90157
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Microdontia, Taurodontia, Pulp calcification OMIM:313490
Leukocyte Adhesion Deficiency Type Ii
Scarring, Recurrent otitis media, Recurrent pneumonia, Umbilical hernia, Small earlobe, Conductiv... ORPHA:99843
Takayasu Arteritis
Inflammatory abnormality of the eye, Increased inflammatory response, Abnormal pattern of respira... ORPHA:3287
Epidermolysis Bullosa, Junctional 1B, Severe
Congenital localized absence of skin, Enamel hypoplasia, Carious teeth, Milia, Atrophic scars OMIM:226700
Mulibrey Nanism
Hypoplastic frontal sinuses, Single transverse palmar crease, Enamel hypoplasia, Thickened cortex... OMIM:253250
Brooke-Spiegler Syndrome
Nodular changes affecting the eyelids, Salivary gland neoplasm, Skin nodule, Abnormality of the s... ORPHA:79493
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Brachydactyly, High palate, Low-set ears, Enamel hypoplasia, Sandal gap, Malar flattening, Mandib... OMIM:600991
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Erythema, Ichthyosis, Hearing impairment OMIM:609313
Familial Cold Urticaria
Pruritus, Sensorineural hearing impairment, Erythema, Urticaria, Conjunctivitis, Arthritis ORPHA:47045
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Drug Reaction With Eosinophilia And Systemic Symptoms
Angioedema, Infectious encephalitis, Enanthema, Interstitial pneumonitis, Myocarditis, Tubulointe... ORPHA:139402
Intellectual Disability, Birk-Barel Type
Short philtrum, Sacral dimple, Contractures involving the joints of the feet, Open mouth, Tented ... ORPHA:166108
Abnormal oral mucosa morphology, Papule, Abnormal oral cavity morphology, Rhinitis, Pallor, Skin ... ORPHA:507
Cellulitis, Cutis marmorata, Abnormality of skin physiology, Ectopic ossification, Skin ulcer ORPHA:280062
Chime Syndrome
Short philtrum, Ichthyosis, Short palm, Hypodontia, Microdontia, Supernumerary tooth, Erythema, H... ORPHA:3474
Cole Disease
Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis OMIM:615522
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Oral mucosal blisters, Hypomelanotic macule, Cutaneous photosensitivity, Palmar hyperkeratosis, P... ORPHA:79397
Reticular Dysgenesis
Skin ulcer, Chronic otitis media, Hearing impairment, Skin rash ORPHA:33355
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Limitation of joint mobility, Respiratory distress ORPHA:2680
Rothmund-Thomson Syndrome, Type 1
Recurrent otitis media, Conical tooth, Osteoporosis, Hyperkeratosis, Cafe-au-lait spot OMIM:618625
Mycosis Fungoides
Pruritus, Erythema, Eczema, Psoriasiform dermatitis, Skin plaque OMIM:254400
Proteus Syndrome
Multiple lipomas, Open mouth, Mandibular hyperostosis, Facial hyperostosis, Hyperkeratosis, Thin ... OMIM:176920
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Ichthyosis, Erythema, Acantholysis, Thin skin ORPHA:455
Cockayne Syndrome Type 2
Scarring, Uveitis, Widely spaced primary teeth, Flexion contracture, Enamel hypoplasia, Progeroid... ORPHA:90322
Blepharophimosis-Impaired Intellectual Development Syndrome
Short philtrum, Recurrent pneumonia, Flexion contracture, Drooling, Low-set ears, Enamel hypoplas... OMIM:619293
Fryns Macrocephaly
Short upper lip, Short philtrum, Everted lower lip vermilion, Knee flexion contracture, Thin uppe... OMIM:600302
Specific Granule Deficiency 2
Brachydactyly, Amelogenesis imperfecta, Recurrent otitis media, Simple ear, Recurrent pneumonia, ... OMIM:617475
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Sensorineural hearing impairment, Amelogenesis imperfecta, Enamel hypoplasia OMIM:603641
Microcephalic Primordial Dwarfism, Toriello Type
Clinodactyly, Short palm, Enamel hypoplasia, Short middle phalanx of toe, Micrognathia, Short pro... OMIM:251190
Chronic Granulomatous Disease
Sinusitis, Inflammatory abnormality of the eye, Cutaneous photosensitivity, Eczema, Macule, Chron... ORPHA:379
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Pierre-Robin sequence, Amelogenesis imperfecta, High palate, Advanced ossification of carpal bone... OMIM:618363
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Brachydactyly, Toe syndactyly, Broad toe, Bifid uvula, 2-3 toe syndactyly, Low-set ears, Enamel h... OMIM:263540
Bone Marrow Failure Syndrome 3
Amelogenesis imperfecta, Cupped ear, Enamel hypoplasia, Hernia, Hypodontia, Microdontia, Microgna... OMIM:617052
Kindler Epidermolysis Bullosa
Esophagitis, Conjunctivitis, Recurrent skin infections, Flexion contracture, Short 5th metacarpal... ORPHA:2908
Brachydactyly, Delayed eruption of teeth, Enamel hypoplasia, Short metacarpal, Osteoporosis, Shor... OMIM:612463
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Rheumatic Fever
Sinusitis, Endocarditis, Myocarditis, Erythema, Macule, Subcutaneous nodule, Pericarditis, Pallor... ORPHA:3099
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Micrognathia, Macroglossia, Generalized osteosclerosis, Micromelia, Limb... ORPHA:1423
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Erythema, Papule, Rheumatoid arthritis, Inflammatory abnormality of the skin ORPHA:79099
Immunoglobulin A Vasculitis
Bruising susceptibility, Restrictive ventilatory defect, Angioedema, Vascular skin abnormality, O... ORPHA:761
Infantile Myofibromatosis
Gingival fibromatosis, Subcutaneous nodule, Chondrocalcinosis, Bone cyst, Osteolysis, Abnormality... ORPHA:2591
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Fragile skin OMIM:615028
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Acral Self-Healing Collodion Baby
Erythema, Palmoplantar scaling skin, Lack of skin elasticity, Localized epidermolytic hyperkeratosis ORPHA:281127
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Familial Multiple Nevi Flammei
Pulmonary embolism, Papule, Nevus flammeus, Abnormality of the upper limb, Hypermelanotic macule,... ORPHA:624
Dens Evaginatus
Abnormality of the dentition, Talon cusp OMIM:125280
Cranioectodermal Dysplasia
Brachydactyly, Craniosynostosis, Finger syndactyly, Rhizomelia, Clinodactyly of the 5th finger, H... ORPHA:1515
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Everted lower lip vermilion, Micrognathia, Gingival hyperkeratosis, Micromelia, Inguinal hernia, ... OMIM:225410
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Hyperkeratosis, Palmoplantar keratoderma OMIM:616400
Autosomal Dominant Severe Congenital Neutropenia
Cellulitis, Recurrent skin infections, Pneumonia, Osteopenia, Periodontitis, Recurrent aphthous s... ORPHA:486
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Bruising susceptibility, Osteopenia, Hernia, Sensorineural hearing impairment, Joint hypermobilit... ORPHA:300179
Ectodermal Dysplasia-Blindness Syndrome
Hyperkeratosis, Keratoconjunctivitis sicca, Protruding ear, Abnormality of the dentition, Skin ul... ORPHA:1806
Adult-Onset Still Disease
Pruritus, Restrictive ventilatory defect, Erythema, Myocarditis, Cartilage destruction, Hepatitis... ORPHA:829
Pilodental Dysplasia With Refractive Errors
Follicular hyperkeratosis, Ectodermal dysplasia, Hypodontia, Conical incisor OMIM:262020
Chronic Graft Versus Host Disease
Urinary bladder inflammation, Flexion contracture, Airway obstruction, Intermittent generalized e... ORPHA:99921
Buerger Disease
Acrocyanosis, Skin ulcer ORPHA:36258
Familial Tumoral Calcinosis
Abnormal palate morphology, Hypopigmented skin patches, Erythema, Abnormality of the gingiva, Sub... ORPHA:53715
Congenital Disorder Of Glycosylation, Type Iy
Clinodactyly, Widely spaced teeth, Micrognathia, Macrotia, Respiratory distress, Wide mouth OMIM:300934
Palmoplantar Keratoderma, Nagashima Type
Palmoplantar hyperhidrosis, Orthokeratotic hyperkeratosis, Hypergranulosis OMIM:615598
Polyarteritis Nodosa
Cutis marmorata, Erythema, Subcutaneous nodule, Pericarditis, Skin ulcer ORPHA:767
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Single transverse palmar crease, Long philtrum, Sacral dimple, Incisor macrodontia,... OMIM:615502
Rothmund-Thomson Syndrome Type 2
Genu varum, Finger symphalangism, Abnormal trabecular bone morphology, Metaphyseal sclerosis, Der... ORPHA:221016
Acrootoocular Syndrome
Small thenar eminence, Small hypothenar eminence, Sandal gap, Atresia of the external auditory ca... ORPHA:2980
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Palmoplantar keratoderma, Recurrent skin infections, Smooth tongue, Oral mucosal bliste... ORPHA:79396
Juvenile Dermatomyositis
Myositis, Pruritus, Restrictive ventilatory defect, Mucosal telangiectasiae, Dry skin, Limitation... ORPHA:93672
Familial Keratoacanthoma
Hyperkeratosis, Subcutaneous nodule, Skin ulcer, Papule ORPHA:493
Dental Ankylosis
Tooth agenesis, Clinodactyly of the 5th finger, Abnormal dental enamel morphology, Mandibular pro... ORPHA:1077
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
Lamellar Ichthyosis
Pruritus, Ichthyosis, Abnormal helix morphology, Everted lower lip vermilion, Hyperkeratosis, Ery... ORPHA:313
Neurogenic Arthrogryposis Multiplex Congenita
Flexion contracture, Rocker bottom foot, Skin dimple, Ankle flexion contracture, Micrognathia, Kn... ORPHA:1143
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Erythema OMIM:194400
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Temtamy Preaxial Brachydactyly Syndrome
Brachydactyly, Clinodactyly, Carpal synostosis, Short metacarpal, Microdontia, Deep philtrum, Sho... OMIM:605282
Punctate Palmoplantar Keratoderma Type 1
Palmoplantar keratoderma, Orthokeratosis, Palmoplantar hyperkeratosis, Hypergranulosis, Verrucous... ORPHA:79501
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Low-set ears, Joint laxity, Osteoporosis, Malar flattening, Posteriorly ... OMIM:614727
Focal Dermal Hypoplasia
Upper limb asymmetry, Dermal atrophy, Open bite, Hernia, Telangiectasia of the skin, Inguinal her... ORPHA:2092
Sinusitis, Cellulitis, Myositis, Pneumonia, Peritonitis, Maculopapular exanthema, Skin detachment... ORPHA:228119
Bullous Pemphigoid
Erythema, Urticaria, Eczema, Macule, Psoriasiform dermatitis ORPHA:703
Centrifugal Lipodystrophy
Lymphadenitis, Erythema, Lipoatrophy, Reduced subcutaneous adipose tissue, Lack of facial subcuta... ORPHA:90156
Trichoodontoonychial Dysplasia With Bone Deficiency
Melanocytic nevus, Anodontia, Ectodermal dysplasia, Enamel hypoplasia OMIM:275450
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:270220
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Restrictive ventilatory defect, Camptodactyly of finger, Respiratory failure, Tongue... OMIM:614399
Hyperkeratosis, Thickened skin ORPHA:1659
Primary Erythromelalgia
Erythema, Pruritus ORPHA:90026
Vitamin D-Dependent Rickets, Type 2A
Bowing of the legs, Metaphyseal irregularity, Delayed eruption of teeth, Sparse bone trabeculae, ... OMIM:277440
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Inflammation of the large intestine, Hyperkeratosis, Retrognathia, Postaxial p... OMIM:614576
Systemic Sclerosis
Nail bed telangiectasia, Gastrointestinal telangiectasia, Narrow mouth, Recurrent skin infections... ORPHA:90291
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Attenuated Chédiak-Higashi Syndrome
Bruising susceptibility, Gingival bleeding, Skin ulcer, Epistaxis ORPHA:352723
Snakebite Envenomation
Ecchymosis, Angioedema, Gingival bleeding, Respiratory failure, Erythema, Localized skin lesion, ... ORPHA:449285
Lowry-Maclean Syndrome
Craniosynostosis, Osteopenia, Single transverse palmar crease, Low-set ears, Osteoporosis, High, ... ORPHA:2409
Warty Dyskeratoma
Epidermal thickening, Abnormality of the alveolar ridges, Abnormal hard palate morphology, Umbili... ORPHA:69745
Palmoplantar Keratoderma And Congenital Alopecia 1
Epidermal hyperkeratosis, Plantar hyperkeratosis, Palmoplantar keratoderma, Palmoplantar erythema OMIM:104100
Warburg-Cinotti Syndrome
High palate, Hypoplasia of the ear cartilage, Elbow flexion contracture, Low-set ears, Conductive... OMIM:618175
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Premature loss of primary teeth, Dry skin, Hypoplasia of teeth, Abnormality of dental morphology ORPHA:248
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Increased bone mineral density, Delayed eruption of teeth, Enamel hypoplasi... ORPHA:94089
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Osteomyelitis, Skin ulcer, Autoamputation of digits, Distal upper limb muscle weakness OMIM:613640
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Low-set ears, Clinodactyly of the 5th finger, Respiratory failu... ORPHA:2759
Oculocerebrodental Syndrome
Clinodactyly, Enamel hypoplasia, Conductive hearing impairment, Sensorineural hearing impairment,... ORPHA:557003
Ectodermal Dysplasia With Mental Retardation And Syndactyly
2-3 toe syndactyly, Open mouth, Aplasia cutis congenita of scalp, Ectodermal dysplasia, Dental cr... OMIM:600906
Prematurely aged appearance, High, narrow palate, Retrognathia, Protruding ear, Conjunctivitis, I... ORPHA:33364
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Short palm, Joint laxity, Broad palm, Thick lower lip vermilion... OMIM:300602
Autosomal Erythropoietic Protoporphyria
Eczema, Erythema, Pruritus, Cutaneous photosensitivity ORPHA:79278
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Microdontia, Short thumb, Telangiectasia of the skin, Planta... ORPHA:2909
Relapsing Polychondritis
Uveitis, Scleritis, Abnormal pattern of respiration, Recurrent aphthous stomatitis, Episcleritis,... ORPHA:728
Leukodystrophy, Hypomyelinating, 17
Flexion contracture, Widely spaced teeth, Respiratory distress, Mandibular prognathia, Gingival o... OMIM:618006
Hypotrichosis Simplex Of The Scalp
Pruritus, Parakeratosis, Hyperkeratosis, Allergic rhinitis, Atopic dermatitis, Scaling skin ORPHA:90368
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Osteomyelitis, Skin ulcer, Periostitis ORPHA:2218
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Bathing Suit Ichthyosis
Ichthyosis, Multiple joint contractures, Parakeratosis, Palmoplantar hyperkeratosis, Erythroderma... ORPHA:100976
Cleft Lip/Palate
Recurrent otitis media, Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-sha... ORPHA:199306
Pemphigus Vulgaris
Atypical scarring of skin, Acantholysis, Urticaria, Abnormal oral cavity morphology, Recurrent cu... ORPHA:704
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis, High palate, Respiratory insufficiency due to muscle weakness, Dry skin OMIM:617066
Hajdu-Cheney Syndrome
Long philtrum, Open bite, Hernia, Osteoporosis, Decreased skull ossification, Micrognathia, Ingui... ORPHA:955
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Bazex Syndrome
Liposarcoma, Palmoplantar keratoderma, Pruritus, Parakeratosis, Hyperkeratosis, Lip hyperpigmenta... ORPHA:166113
Cobblestone-like hyperkeratosis, Prominent superficial veins, Painless fractures due to injury, A... ORPHA:2583
Epidermolytic Palmoplantar Keratoderma
Clubbing, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkerato... ORPHA:2199
Sjogren-Larsson Syndrome
Ichthyosis, Enamel hypoplasia OMIM:270200
Cleidocranial Dysplasia
Absent paranasal sinuses, Micrognathia, High, narrow palate, Short middle phalanx of the 2nd fing... OMIM:119600
Atkin-Flaitz Syndrome
Exaggerated median tongue furrow, Short palm, Joint laxity, Broad palm, Thick lower lip vermilion... OMIM:300431
Epidermolysis Bullosa, Lethal Acantholytic
Mitten deformity, Widely spaced toes, Tapered distal phalanges of finger, Sandal gap, Clinodactyl... OMIM:609638
Brachydactyly, High palate, Recurrent pneumonia, Vasculitis in the skin, Recurrent skin infection... ORPHA:443811
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Brachydactyly, Low-set ears, Cone-shaped epiphyses of the phalanges of the hand, Sandal gap, Shor... OMIM:617102
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Short philtrum, Skin dimple, Lipoatrophy, Micrognathia, Macrotia, Respiratory distress, Thin skin... ORPHA:261304
Xeroderma Pigmentosum
Blepharitis, Dermal atrophy, Hypopigmented skin patches, Craniofacial hyperostosis, Sensorineural... ORPHA:910
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Recurrent aphthous stomatitis, Bronchiectasis, Pyoderma gangrenosum, Chronic... OMIM:150550
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Toxic Epidermal Necrolysis
Restrictive ventilatory defect, Acantholysis, Excessive salivation, Cough, Erythema, Macule, Resp... ORPHA:537
Orofaciodigital Syndrome Type 2
Broad first metatarsal, Agenesis of central incisor, Tachypnea, Mesomelic leg shortening, Microgn... ORPHA:2751
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Cutis marmorata, Joint stiffness, Tachypnea, Erythema, Pustular rash, Malar rash, Pustu... OMIM:615934
Werner Syndrome
Premature graying of hair, Lipodystrophy, Joint stiffness, Increased bone mineral density, Premat... ORPHA:902
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Metaphyseal irregularity, Sparse bone trabeculae, Recurrent fractures, Delaye... OMIM:264700
Bowing of the long bones, Coxa valga, Delayed eruption of teeth, Short palm, Micromelia, Abnormal... ORPHA:166272
Hyperimmunoglobulinemia D With Periodic Fever
Limitation of joint mobility, Peritonitis, Erythema, Urticaria, Papule, Recurrent aphthous stomat... ORPHA:343
Pemphigus Erythematosus
Hypopigmented skin patches, Acantholysis, Localized skin lesion, Erythematous plaque, Malar rash,... ORPHA:79480
Scarf Syndrome
Craniosynostosis, Long philtrum, Enamel hypoplasia, Cutis laxa, Low-set, posteriorly rotated ears... ORPHA:3134
Dentin Dysplasia, Type I
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... OMIM:125400
Otodental Syndrome
Abnormality of the maxilla, High-frequency sensorineural hearing impairment, Long philtrum, Pulp ... ORPHA:2791
Lipoid Proteinosis
Tongue nodules, High palate, Abnormal oral mucosa morphology, Thick lower lip vermilion, Papule, ... ORPHA:530
17Q11.2 Microduplication Syndrome
Thin vermilion border, Malar flattening, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:139474
Odontochondrodysplasia 1
Brachydactyly, Genu varum, Delayed ossification of carpal bones, Delayed eruption of teeth, Long ... OMIM:184260
Raine Syndrome
Microdontia, Micrognathia, Micromelia, Mandibular prognathia, Arthrogryposis multiplex congenita,... OMIM:259775
Urinary bladder inflammation, Pruritus, Orchitis, Papule, Cough, Abnormality of the tongue, Subcu... ORPHA:556
Oculodentodigital Dysplasia, Autosomal Recessive
Large earlobe, Narrow mouth, 2-4 toe cutaneous syndactyly, Long philtrum, Low-set ears, Delayed e... OMIM:257850
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Respiratory distress, Ar... OMIM:254210
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Congenital foot contraction deformities, Penetrating foot ulcers, Neonatal inspiratory stridor, F... OMIM:118230
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Increased bone mineral d... ORPHA:3352
Dominant Beta-Thalassemia
Bowing of the long bones, Pallor, Chronic hepatitis, Osteoporosis, Jaundice, Dyspnea, Hyperplasia... ORPHA:231226
Pityriasis Rubra Pilaris
Palmoplantar keratoderma, Ichthyosis, Pruritus, Papule, Abnormal oral cavity morphology, Eczema, ... ORPHA:2897
Protoporphyria, Erythropoietic, 1
Eczema, Erythema, Pruritus OMIM:177000
Acrodermatitis Enteropathica
Blepharitis, Dry skin, Erythema, Abnormality of the tongue, Cheilitis, Furrowed tongue, Pustule, ... ORPHA:37
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology OMIM:612529
48,Xxyy Syndrome
Delayed eruption of teeth, Open bite, Asthma, Clinodactyly of the 5th finger, Carious teeth, Thic... ORPHA:10
Stuve-Wiedemann Syndrome 1
Smooth tongue, Osteoporosis, Micrognathia, Short tibia, Bowing of the long bones, Single transver... OMIM:601559
Rothmund-Thomson Syndrome Type 1
Genu varum, Finger symphalangism, Abnormal trabecular bone morphology, Metaphyseal sclerosis, Der... ORPHA:221008
Kohlschutter-Tonz Syndrome-Like
Amelogenesis imperfecta, Delayed eruption of teeth, Drooling, Enamel hypoplasia, 2-3 toe syndacty... OMIM:619229
Harlequin Ichthyosis
Ichthyosis, Foot polydactyly, Congenital ichthyosiform erythroderma, Hand polydactyly, Hyperkerat... ORPHA:457
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Pierre-Robin sequence, Brachydactyly, Joint stiffness, Short palm, Enamel hypoplasia, Misalignmen... OMIM:619184
Costello Syndrome
Large earlobe, Abnormality of the dentition, Thick lower lip vermilion, Macroglossia, Hyperkerato... ORPHA:3071
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Tongue fasciculations, Respiratory distress, Increased connective tissue ORPHA:238329
Cryoglobulinemic Vasculitis
Viral hepatitis, Petechiae, Cutis marmorata, Keratoconjunctivitis sicca, Skin ulcer, Purpura, Art... ORPHA:91138
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent otitis media, Hearing impairment OMIM:615993
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Hyperkeratosis, Erythroderma, Generalize... OMIM:615024
Seckel Syndrome 1
High palate, Hypoplasia of proximal radius, Single transverse palmar crease, Elbow flexion contra... OMIM:210600
Aplasia Cutis-Myopia Syndrome
Skin ulcer, Aplasia cutis congenita ORPHA:1117
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Poikiloderma With Neutropenia
Recurrent otitis media, Palmoplantar keratoderma, Blepharitis, Recurrent pneumonia, Long philtrum... OMIM:604173
Pneumonia, Erythema nodosum, Inflammatory abnormality of the eye, Cutaneous abscess, Cough, Pleur... ORPHA:3392
Blau Syndrome
Abnormal salivary gland morphology, Ichthyosis, Erythema nodosum, Camptodactyly of finger, Limita... ORPHA:90340
Pfeiffer-Palm-Teller Syndrome
Cupped ear, Joint stiffness, Enamel hypoplasia OMIM:261560
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Respiratory failure requiring assisted ventila... ORPHA:70589
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Atkin-Flaitz Syndrome
Everted lower lip vermilion, Maxillary lateral incisor microdontia, Macrotia, Abnormality of the ... ORPHA:1193
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Stomatitis, Facial erythema OMIM:618307
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Delayed eruption of teeth, Sensorineural hearing impairment, Osteoporosis, Dentin... ORPHA:71267
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Narrow mouth, Mitten deformity, Flexion contracture, Corneal scarring, Enamel hypoplasia, Fragile... OMIM:226600
Immunodeficiency 23
High palate, Vasculitis in the skin, Asthma, Conductive hearing impairment, Sensorineural hearing... OMIM:615816
Lethal Acantholytic Erosive Disorder
3-4 finger syndactyly, Abnormal helix morphology, 4-5 finger syndactyly, Clinodactyly of the 5th ... ORPHA:158687
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Cleft upper lip, Flexion contracture, Parakeratosis, Congenital ichthyosiform erythroderma, Epiph... OMIM:308050
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Corneodermatoosseous Syndrome
Brachydactyly, Palmoplantar hyperkeratosis, Erythroderma, Short distal phalanx of finger, Abnorma... OMIM:122440
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Narrow mouth, Palmoplantar keratoderma, Craniosynostosis, Umbilical hernia, Aplasia/Hypoplasia of... ORPHA:1555
Microcephalic Primordial Dwarfism, Toriello Type
Brachydactyly, Downturned corners of mouth, Enamel hypoplasia ORPHA:2643
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Enamel hypoplasia, Aplasia cutis congenita, Arthrogryposis multiplex congenita, Fragile skin, Mil... OMIM:226730
Wiskott-Aldrich Syndrome
Sinusitis, Bruising susceptibility, Blepharitis, Petechiae, Spontaneous hematomas, Arthritis, Gin... ORPHA:906
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Erysipelas, Retrognathia, Small hand, Narrow mouth, Conductive hearing impairment, Malar flatteni... OMIM:235510
Leopard Syndrome 3
Low-set ears, Epidermal hyperkeratosis, Sensorineural hearing impairment, Hyperkeratosis, Posteri... OMIM:613707
Ichthyosis Prematurity Syndrome
Pruritus, Asthma, Dermatographic urticaria, Erythroderma, Generalized ichthyosis, Allergic rhinit... OMIM:608649
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Brachydactyly, Clinodactyly, Conical tooth, Enamel hypoplasia, Oligodontia, Sandal gap, Microdont... OMIM:618727
Delayed eruption of teeth, Increased bone mineral density, Recurrent fractures, Craniofacial hype... ORPHA:1782
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath... ORPHA:2325
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis, Intermittent ge... ORPHA:284426
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Cleidocranial Dysplasia
Abnormal thumb morphology, Open bite, Clinodactyly of the 5th finger, Tapered finger, Osteoporosi... ORPHA:1452
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Darier-White Disease
Pruritus, Acantholysis, Acrokeratosis, Plantar pits, Palmar pits, Hypermelanotic macule, Subungua... OMIM:124200
Neutrophilic Dermatosis, Acute Febrile
Acne inversa, Erythema, Cystic acne, Pyoderma gangrenosum, Panniculitis OMIM:608068
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Upper limb undergrowth, Pathologic fracture, Dentinogenesis imperfecta, Abnorma... ORPHA:166277
Acquired Purpura Fulminans
Macular purpura, Macule, Pyoderma gangrenosum, Erythematous macule, Acrocyanosis, Skin rash ORPHA:49566
Free Sialic Acid Storage Disease
Reduced bone mineral density, Skin ulcer, Abnormality of the upper limb ORPHA:834
Livedoid Vasculopathy
Cutis marmorata, Recurrent skin infections, Superficial dermal perivascular inflammatory infiltra... ORPHA:542643
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Amelogenesis Imperfecta, Type If
Dental enamel pits, Amelogenesis imperfecta, Abnormality of dental color, Enamel hypoplasia OMIM:616270
Oral Erosive Lichen
Cheilitis, Erythema, Oral ulcer, Dry skin ORPHA:31142
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteopenia, Periostitis, Hyperkeratosis, Osteomyelitis, Osteolysis, Pustule, Respiratory distress... OMIM:612852
Granulomatosis With Polyangiitis
Sinusitis, Uveitis, Cough, Rhinorrhea, Episcleritis, Chronic otitis media, Oral ulcer, Keratitis,... OMIM:608710
Cockayne Syndrome Type 1
Scarring, Uveitis, Widely spaced primary teeth, Contractures involving the joints of the feet, En... ORPHA:90321
Gaucher Disease, Perinatal Lethal
Apnea, Narrow mouth, Petechiae, Ichthyosis, Low-set ears, Open mouth, Everted lower lip vermilion... OMIM:608013
Liang-Wang Syndrome
Everted lower lip vermilion, Macroglossia, Macrodontia of permanent maxillary central incisor, Th... OMIM:618729
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Inflammatory abnormality of the eye, Cough, Hyperkeratosis, Eczema, Keratoconjunctivit... ORPHA:238468
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia OMIM:202900
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Myopathy And Diabetes Mellitus
Achilles tendon contracture, Hyporeflexia of upper limbs, Sensorineural hearing impairment, Respi... ORPHA:2596
Ichthyosis, Hystrix-Like, With Deafness
Punctate keratitis, Palmoplantar keratoderma, Ichthyosis, Sensorineural hearing impairment, Scarr... OMIM:602540
Erythrokeratodermia Variabilis Et Progressiva 6
Erythematous plaque, Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakerat... OMIM:618531
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Synostosis of carpal bones, Brachydactyly, Ichthyosis, Abnormal helix morphology, Joint stiffness... ORPHA:1005
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Sparse bone trabeculae, Delayed eruption of teeth, Enamel hypoplasia, Enlargement of ... ORPHA:289157
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Osteopenia, Delayed eruption of teeth, Sensorineural hearing impairment, Lipoatrop... OMIM:601812
Heimler Syndrome 1
Sensorineural hearing impairment, Amelogenesis imperfecta, Enamel hypoplasia OMIM:234580
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Bifid uvula, Postaxial foot polydactyly, Non-midline cleft lip, Enamel h... ORPHA:2919
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Brachydactyly, Pseudoepiphyses of the metacarpals, Distal symphalangism, Enamel hypoplasia, Clino... OMIM:210720
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Absent ossification of capital femoral epiphysis, Macroglossia, Prolonged neonatal jaundice, Resp... ORPHA:226313
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory insufficiency due to muscle weakness, Respiratory distress, Micrognathia OMIM:300580
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Tracheomalacia, Long philtrum, Microdontia, Osteoporosis, Micrognathia, Hallux valgus, Metaphysea... ORPHA:536467
Arthrogryposis And Ectodermal Dysplasia
Cleft upper lip, Dry skin, Atypical scarring of skin, Oligodontia, Hyperkeratosis, Ectodermal dys... OMIM:601701
Pseudohypoparathyroidism, Type Ia
Brachydactyly, Delayed eruption of teeth, Enamel hypoplasia, Short metacarpal, Osteoporosis, Shor... OMIM:103580
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Periapical bone loss, Denti... OMIM:125500
Osteogenesis Imperfecta, Type V
Hyperextensibility at elbow, Osteopenia, Recurrent fractures, Anterior radial head dislocation, J... OMIM:610967
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Sensorineural hearing impairment, Carious teeth, Joint contracture of the 5th finger, Hyperkerato... ORPHA:1883
Cellulitis, Pruritus, Acrocyanosis, Dry skin, Cutaneous photosensitivity, Myocarditis, Erythema, ... ORPHA:221
Cerebellofaciodental Syndrome
Low-set ears, Tapered finger, Dental malocclusion, Taurodontia, Macrodontia of permanent maxillar... OMIM:616202
Beta-Thalassemia Major
Bowing of the long bones, Pallor, Osteoporosis, Jaundice, Dyspnea, Hyperplasia of the maxilla, Ma... ORPHA:231214
Congenital Disorder Of Glycosylation, Type If
Flexion contracture, Hyperkeratosis, Erythroderma, Scaling skin, Dry skin OMIM:609180
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Erythema, Pruritus, Pustule ORPHA:48377
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth ORPHA:3196
Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis, Dry skin ORPHA:461
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis, Osteomyelitis, Osteolytic defects of the phalanges of the hand, Hallux valgus OMIM:615632
Pseudohypoparathyroidism Type 1C
Brachydactyly, Short 5th metacarpal, Increased bone mineral density, Delayed eruption of teeth, E... ORPHA:79444
Scarf Syndrome
Lambdoidal craniosynostosis, Long philtrum, Low-set ears, Enamel hypoplasia, Coronal craniosynost... OMIM:312830
Beta-Thalassemia Intermedia
Osteopenia, Osteoporosis, Increased susceptibility to fractures, Jaundice, Pulmonary arterial hyp... ORPHA:231222
Adult Syndrome
Toe syndactyly, Finger syndactyly, Abnormality of dental morphology, Split foot, Melanocytic nevu... ORPHA:978
Gaucher Disease Type 2
Flexion contracture, Abnormal pattern of respiration, Respiratory distress, Cough ORPHA:77260
Pseudohypoparathyroidism, Type Ic
Brachydactyly, Delayed eruption of teeth, Enamel hypoplasia, Short metacarpal, Osteoporosis, Shor... OMIM:612462
Hypoglossia With Situs Inversus
Narrow mouth, High palate, Low-set ears, Hypodontia, Micrognathia, Microglossia, Upper airway obs... OMIM:612776
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Perianal erythema, Perioral erythema, Erythroderma, Pustule OMIM:614328
Severe Generalized Junctional Epidermolysis Bullosa
Mitten deformity, Recurrent skin infections, Pneumonia, Gastrointestinal inflammation, Enamel hyp... ORPHA:79404
Giant Cell Arteritis
Epistaxis, Joint stiffness, Conductive hearing impairment, Cough, Impaired mastication, Glossitis... ORPHA:397
Congenital Disorder Of Glycosylation, Type Iq
Ichthyosis, Low-set ears, Cutis laxa, Hyperkeratosis, Eczema OMIM:612379
Kniest Dysplasia
Recurrent otitis media, Tracheomalacia, Abnormal cartilage collagen, Limitation of joint mobility... OMIM:156550
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Block vertebrae, Clinodactyly of the 5th finger, Inguinal hernia, Vertebral fu... OMIM:272460
Oculocerebrorenal Syndrome Of Lowe
Long philtrum, Open bite, Everted lower lip vermilion, Micrognathia, Osteomalacia, Inguinal herni... ORPHA:534
Cohen Syndrome
Short philtrum, Single transverse palmar crease, Short metacarpal, Open mouth, Tapered finger, Mi... OMIM:216550
Granulomatosis With Polyangiitis
Sinusitis, Restrictive ventilatory defect, Inflammatory abnormality of the eye, Sensorineural hea... ORPHA:900
Blau Syndrome
Uveitis, Iritis, Erythema nodosum, Intermittent generalized erythematous papular rash, Eczema, Sy... OMIM:186580
Moebius Syndrome
Brachydactyly, High palate, Clinodactyly, Bifid uvula, Short phalanx of finger, Aplasia/Hypoplasi... OMIM:157900
Pseudohypoparathyroidism Type 1A
Brachydactyly, Short 5th metacarpal, Delayed eruption of teeth, Increased bone mineral density, E... ORPHA:79443
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Chronic otitis media, Abnormal mucociliary clearance, Respiratory di... OMIM:619466
Oculocerebrofacial Syndrome, Kaufman Type
Short philtrum, Abnormal lip morphology, Microdontia, Respiratory failure, Micrognathia, Dyspnea,... ORPHA:2707
Nail-Patella Syndrome
Clinodactyly of the 5th finger, Osteoporosis, Flexion contracture, Patellar hypoplasia, Enamel hy... ORPHA:2614
Eec Syndrome
Blepharitis, Microdontia, Keratitis, Cleft palate, Carious teeth, Hyperkeratosis, Ectrodactyly, A... ORPHA:1896
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Toe syndactyly, Cleft upper lip, Finger syndactyly, Palmoplantar hyperkeratosis, Hypodontia, Cari... ORPHA:3253
Stevens-Johnson Syndrome
Restrictive ventilatory defect, Acantholysis, Excessive salivation, Cough, Erythema, Dyspnea, Mac... ORPHA:36426
Charcot-Marie-Tooth Disease Type 4B2
Tongue atrophy, Proximal muscle weakness in upper limbs, Penetrating foot ulcers, Areflexia of up... ORPHA:99956
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Cutis marmorata, Erythema nodosum, Hashimoto thyroiditis, Livedo racemosa... OMIM:615688
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer, Panniculitis, Erythematous papule, Erythematous plaque ORPHA:86884
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Ichthyosis, Oligodontia, Hypodontia, Scarring alopecia of scalp, Jaundice, Abnormal dental enamel... ORPHA:59303
Mandibuloacral Dysplasia With Type B Lipodystrophy
Narrow mouth, High palate, Flexion contracture, Dermal atrophy, Decreased adipose tissue around n... OMIM:608612
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Ulcerative colitis, Erythema, Interstitial pneumonitis, Cellulitis OMIM:614878
Congenital Disorder Of Glycosylation, Type Ie
Short palm, Upper limb undergrowth, Ankle flexion contracture, High, narrow palate, Micrognathia,... OMIM:608799
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
High palate, Multiple joint contractures, Joint laxity, Respiratory insufficiency due to muscle w... ORPHA:486815
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Severe sensorineural hearing impairment, Recurrent pneumonia, Respiratory failure, Respiratory in... ORPHA:254875
Oculodentodigital Dysplasia
Broad alveolar ridges, Clinodactyly, Cleft upper lip, Enamel hypoplasia, 4-5 finger syndactyly, C... OMIM:164200
Xfe Progeroid Syndrome
Dermal atrophy, Corneal scarring, Prematurely aged appearance, Enamel hypoplasia, Cutaneous photo... OMIM:610965
Galloway-Mowat Syndrome 8
Enamel hypoplasia OMIM:618349
Psoriasis 2
Hyperkeratosis, Scaling skin, Psoriasiform dermatitis, Parakeratosis OMIM:602723
Congenital Disorder Of Glycosylation, Type Iu
High palate, Micrognathia, Respiratory distress, Neonatal respiratory distress, Thin upper lip ve... OMIM:615042
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Atypical Werner Syndrome
Prematurely aged appearance, Sclerosis of hand bone, Osteoporosis, Progeroid facial appearance, M... ORPHA:79474
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory insufficiency due to muscle weakness, Apneic episodes precipitated by illness, fatigu... OMIM:605809
Craniofaciofrontodigital Syndrome
Finger joint hypermobility, Osteopenia, Long philtrum, Prominent superficial veins, Hernia, Palmo... ORPHA:363705
Osteogenesis Imperfecta, Type Iii
Decreased calvarial ossification, Bowing of limbs due to multiple fractures, Recurrent fractures,... OMIM:259420
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Narrow mouth, Short philtrum, Clinodactyly, Slender finger, Long philtrum, Sensorineural hearing ... ORPHA:391408
Orofaciodigital Syndrome I
Clinodactyly, Syndactyly, Hamartoma of tongue, Cleft palate, Brachydactyly, High palate, Cleft up... OMIM:311200
Pde4D Haploinsufficiency Syndrome
Long philtrum, Micrognathia, Mandibular prognathia, Short toe, Thin upper lip vermilion, Brachyda... ORPHA:439822
Mandibuloacral Dysplasia
High palate, Abnormal tongue morphology, Reduced intrathoracic adipose tissue, Increased subcutan... ORPHA:2457