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Gene: Lamc2 MGI:99913

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
laminin, gamma 2
Synonyms:
nicein, 100kDa

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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
phenotypes		 Matching phenotypes Source
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Atrophic scars, Milia, Oral mucosal blisters, Scarring alopecia of scal... ORPHA:79402
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal oral mucosa morphology, Abnormal fingertip morphology, Skin erosion, Pneumonia, Respirat... 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
phenotypes		 Matching phenotypes Source
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Localized skin lesion, Atypical scarring of skin, Keloids, Carious teeth, Erythematous papule, Hy... ORPHA:79410
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritus on foot, Erythematous papule, Eczematoid dermatitis, Urticarial plaque, Pruritis on brea... ORPHA:64745
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Porokeratosis, Abnormal skin morphology of the palm, Generalized abnormali... ORPHA:737
Dowling-Degos Disease
Palmar pits, Hyperkeratotic papule, Erythematous papule, Epidermoid cyst, Acne inversa, Hyperpigm... ORPHA:79145
Mal De Meleda
Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Lichenoid skin lesion, ... ORPHA:87503
Darier Disease
Thickened skin, Plantar pits, Palmoplantar keratoderma, Acrokeratosis, Skin vesicle, Subungual hy... ORPHA:218
Ichthyosis, Annular Epidermolytic, 1
Erythema, Skin erosion, Orthokeratosis, Hyperparakeratosis, Erythematous plaque, Ichthyosis, Palm... OMIM:607602
Diffuse Palmoplantar Keratoderma, Bothnian Type
Erythema, Skin ulcer, Diffuse palmoplantar hyperkeratosis, Pruritus, Papule ORPHA:2337
Pemphigus Foliaceus
Abnormal oral mucosa morphology, Erythema, Skin erosion, Psoriasiform dermatitis, Erythematous pl... ORPHA:79481
Ichthyosis, Annular Epidermolytic, 2
Erythema, Skin erosion, Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Palmoplantar hyperk... OMIM:620148
Ulerythema Ophryogenesis
Hyperkeratotic papule, Erythematous papule, Dermal atrophy, Dry skin, Facial erythema, Follicular... ORPHA:3406
Dermatitis Herpetiformis
Dental enamel pits, Erythema, Delayed eruption of teeth, Eczematoid dermatitis, Erosion of oral m... ORPHA:1656
Acquired Ichthyosis
Erythema, Palmoplantar keratoderma, Dry skin, Recurrent skin infections, Ichthyosis, Pruritus, Pa... ORPHA:454
Chilblain Lupus
Discoid lupus rash, Finger swelling, Erythematous papule, Skin ulcer, Inflammatory abnormality of... ORPHA:90280
Familial Benign Chronic Pemphigus
Erythema, Skin erosion, Skin vesicle ORPHA:2841
Atrophoderma Vermiculata
Hyperkeratotic papule, Erythema, Hypoplastic pilosebaceous units, Atrophic scars, Skin pit, Peria... ORPHA:79100
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Cutaneous Mastocytoma
Erythema, Skin erosion, Thickened skin, Erythematous papule, Telangiectasia macularis eruptiva pe... ORPHA:79455
Erythema Elevatum Diutinum
Skin nodule, Skin vesicle ORPHA:90000
Necrobiosis Lipoidica
Abnormal forearm morphology, Erythema, Indurated nodule, Inflammatory abnormality of the skin, Sk... ORPHA:542592
Keratoderma Hereditarium Mutilans With Ichthyosis
Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis,... ORPHA:79395
Lichen Planus Pemphigoides
Abnormal oral mucosa morphology, Skin vesicle, Conjunctivitis, Pruritus, Hyperkeratosis, Blepharitis ORPHA:254478
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Cellulitis, Abnormality of the dentition, Osteopenia, Delayed eruption of teeth, Skin ulcer, Ecze... ORPHA:2314
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Erythema, Atopic dermatitis, Palmoplantar blistering, Decreased movement range in interphalangeal... ORPHA:530838
Iga Pemphigus
Skin erosion, Cutaneous abscess, Ulcerative colitis, Generalized abnormality of skin, Neutrophili... ORPHA:555905
Peeling Skin Syndrome 6
Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus OMIM:618084
Ichthyosis, Congenital, Autosomal Recessive 6
Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Erythroderma, Scaling skin, Ge... OMIM:612281
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Skin vesicle, Parakeratosis, Skin fragility with non-scarring blistering, Pruritus ORPHA:158681
Prolidase Deficiency
Erythema, Carious teeth, Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, Skin ulcer, ... ORPHA:742
Classic Mycosis Fungoides
Erythema, Skin ulcer, Hypopigmented skin patches, Eczematoid dermatitis, Dry skin, Skin rash, Ski... ORPHA:2584
Juvenile Hyaline Fibromatosis
Papule, Skin ulcer, Abnormal diaphysis morphology, Joint stiffness, Gingival overgrowth, Aplasia/... ORPHA:2028
Cole Disease
Hyperkeratotic papule, Abnormality of the dentition, Palmoplantar keratoderma, Orthokeratosis, Hy... OMIM:615522
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Palmar hyperhidrosis, Piezogenic pedal pa... ORPHA:38
Erythrokeratodermia Variabilis
Erythema, Hearing impairment, Dry skin, Patchy palmoplantar hyperkeratosis, Skin rash, Cutaneous ... ORPHA:317
Dracunculiasis
Cellulitis, Limitation of joint mobility, Skin ulcer, Skin rash, Subcutaneous nodule, Arthritis, ... ORPHA:231
Progressive Symmetric Erythrokeratodermia
Skin plaque, Erythema, Palmoplantar keratoderma ORPHA:316
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis, Congenital nonbu... OMIM:617571
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema, Orthokeratosis, Hypergranulosis, Ichthyosis, Hyperkeratosis OMIM:613943
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Parakeratosis, Erythroderma, Palmar... OMIM:604777
Sjögren-Larsson Syndrome
Erythema, Abnormal dental enamel morphology, Dry skin, Joint stiffness, Ichthyosis, Inflammatory ... ORPHA:816
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormal oral mucosa morphology, Abnormality of the dentition, Erythema, Carious teeth, Palmoplan... ORPHA:659
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr... OMIM:617526
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Thin upper lip vermilion, Ectodermal dysplasia, Follicular hyperkeratos... OMIM:613576
Aplasia Cutis Congenita
Erythema, Toe syndactyly, Skin ulcer, Finger syndactyly, Aplasia cutis congenita, Aplasia cutis c... ORPHA:1114
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Abnormality of the dentition, Hypermelanotic macule, Pruritus, Milia, Hypomelanotic macule, Oral ... ORPHA:79399
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Porokeratosis Of Mibelli
Porokeratosis, Cutaneous photosensitivity, Aplasia/Hypoplasia of the skin, Pruritus, Hyperkeratosis ORPHA:735
Erythrokeratodermia Variabilis Et Progressiva 3
Erythema, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Hyperkeratosis OMIM:617525
Anonychia With Flexural Pigmentation
Carious teeth, Abnormal skin morphology of the palm, Follicular hyperkeratosis, Macular telangiec... ORPHA:69125
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Hearing impairment, Gen... ORPHA:49042
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Papule, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Cutaneous photosensitivity, Erythroderma, Hyper... ORPHA:312
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Palmoplantar keratoderma, Abnormal phalangeal joint morphology of the hand, Or... ORPHA:498359
Cutaneous Small Vessel Vasculitis
Erythema, Cutis marmorata, Recurrent skin infections, Skin rash, Abnormal oral cavity morphology,... ORPHA:889
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Natal tooth, Orthokeratosis, Eczematoid dermatitis, Acne inversa, Scarr... OMIM:617337
Hyperkeratosis Lenticularis Perstans
Skin ulcer, Hyperkeratosis lenticularis perstans, Aplasia/Hypoplasia of the skin, Pruritus, Papule ORPHA:409
Junctional Epidermolysis Bullosa Inversa
Localized skin lesion, Carious teeth, Atrophic scars, Milia, Oral mucosal blisters, Enamel hypopl... ORPHA:79405
Odontoonychodermal Dysplasia
Erythema, Orthokeratosis, Smooth tongue, Widely spaced primary teeth, Hypergranulosis, Agenesis o... OMIM:257980
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Orthokeratosis, Dry skin, Ichthyosis, Sclerosing cholangitis, Oligodontia, Parakeratosis, Hypodon... OMIM:607626
Palmoplantar Keratoderma And Congenital Alopecia 2
Camptodactyly of finger, Dry skin, Facial erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, ... OMIM:212360
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Scaling skin, Hyperkeratosis OMIM:607936
Acral Peeling Skin Syndrome
Erythema, Skin erosion, Eczematoid dermatitis, Excessive wrinkling of palmar skin, Ichthyosis, Ma... ORPHA:263534
Erythrokeratodermia Variabilis Et Progressiva 2
Skin plaque, Erythema, Palmoplantar keratoderma OMIM:617524
Jessner Lymphocytic Infiltration Of The Skin
Erythema, Skin plaque, Pruritus, Papule, Cutaneous photosensitivity ORPHA:33314
Chilblain Lupus 1
Autoamputation of digits, Chilblains, Cutaneous photosensitivity, Skin ulcer OMIM:610448
Erosive Pustular Dermatosis Of The Scalp
Pustule, Erythema, Skin erosion, Scarring alopecia of scalp ORPHA:222
Pressure-Induced Localized Lipoatrophy
Erythema, Inflammatory abnormality of the skin, Absence of subcutaneous fat, Reduced subcutaneous... ORPHA:90160
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Erythematous... OMIM:173200
Intermediate Generalized Junctional Epidermolysis Bullosa
Palmoplantar keratoderma, Atrophic scars, Milia, Oral mucosal blisters, Scarring alopecia of scal... ORPHA:79402
Olmsted Syndrome 1
Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hyperparakeratosis, Autoamput... OMIM:614594
Lichen Planopilaris
Skin ulcer, Hypopigmented skin patches, Neoplasm of the oral cavity, Hepatitis, Dermal atrophy, P... ORPHA:525
Acute Generalized Exanthematous Pustulosis
Conjunctivitis, Predominantly dermal neutrophilic infiltrate, Pustule, Skin vesicle, Eosinophilic... ORPHA:293173
Hennekam-Beemer Syndrome
Pneumonia, Erythema, Thickened skin, Conductive hearing impairment, Hearing impairment, Thick low... ORPHA:2135
Acrogeria
Small hand, Skin ulcer, Prematurely aged appearance, Micrognathia, Excessive wrinkled skin, Joint... ORPHA:2500
Ichthyosis With Erythrokeratoderma
Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Diffuse palmoplantar h... OMIM:620507
Idiopathic Localized Lipodystrophy
Erythema, Inflammatory abnormality of the skin, Absence of subcutaneous fat, Reduced subcutaneous... ORPHA:90158
Hydroa Vacciniforme
Papulovesicular eruption, Erythema, Keratitis, Eczematoid dermatitis, Malar rash, Superficial der... ORPHA:330058
Dermatofibrosarcoma Protuberans
Erythema, Subcutaneous nodule, Skin ulcer, Thickened skin ORPHA:31112
Epidermolysis Bullosa Simplex 1C, Localized
Milia, Hyperkeratosis, Palmoplantar blistering OMIM:131800
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Hypergranulosis, Erythroderma, Palmar hyperlinearity, Eclabion, Hyperkeratosis, C... OMIM:615023
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Hearing impairment, Finger syndactyly, Micrognathia, Parakeratosis, 2-5 finger syndacty... OMIM:308050
Wells Syndrome
Skin vesicle ORPHA:901
Maculopapular Cutaneous Mastocytosis
Erythema, Dermatographic urticaria, Generalized abnormality of skin, Macule, Dyspnea, Pruritus, D... ORPHA:79457
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Skin erosion, Nevus, Palmoplantar blistering, Atrophic scars, Milia, Oral mucosal blisters, Palmo... ORPHA:89838
Transgrediens Et Progrediens Palmoplantar Keratoderma
Thickened skin, Erythematous plaque, Lichenoid skin lesion, Diffuse palmoplantar hyperkeratosis, ... ORPHA:495
Panniculitis-Induced Localized Lipodystrophy
Erythema, Inflammatory abnormality of the skin, Absence of subcutaneous fat, Reduced subcutaneous... ORPHA:90159
Erythema Of Acral Regions
Abnormality of the dentition, Talipes equinovarus, Erythema OMIM:227000
Hyperkeratosis-Hyperpigmentation Syndrome
Cutaneous photosensitivity, Papule, Multiple cafe-au-lait spots, Hyperkeratosis ORPHA:1336
Dermatitis, Atopic
Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Dry skin, Pallor, Ichthyosis, Facial... OMIM:603165
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Camptodactyly of finger, Palmar hyperhidrosis, Oral mucosal blisters, Hypodontia, ... OMIM:226650
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormality of the dentition, Joint stiffness, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Skin ulcer, Atrophic scars, Pustule, S... ORPHA:48104
Quinquaud Folliculitis Decalvans
Erythema, Pustule, Scarring, Scarring alopecia of scalp, Recurrent skin infections ORPHA:346
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Dermal atrophy, Milia, Erythematous plaque, Cutaneous photosensitivity, Crusting erythe... ORPHA:158673
Vulvovaginal Gingival Syndrome
Erythema, Skin erosion, Oral ulcer, Parakeratosis, Gingivitis, Pruritus ORPHA:83453
Cutaneous Collagenous Vasculopathy
Erythema, Bruising susceptibility, Vascular skin abnormality, Skin rash, Petechiae, Diffuse telan... ORPHA:280779
Familial Reactive Perforating Collagenosis
Abnormal oral mucosa morphology, Hyperkeratotic papule, Inflammatory abnormality of the skin, Ery... ORPHA:79147
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Carious teeth, Palmoplantar keratoderma, Folliculitis, Keratitis, Facial erythema, Scarring alope... OMIM:612843
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Dermatoosteolysis, Kirghizian Type
Abnormality of the dentition, Keratitis, Skin ulcer, Abnormal diaphysis morphology, Abnormality o... ORPHA:1657
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Parakeratosis, Hyperkerat... OMIM:604117
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Keratitis, Milia, Increased connective tissue, Punctate keratitis, Scarring alopec... OMIM:226670
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum, Chronic furunculosis, Cutaneous abscess OMIM:619986
Hypotrichosis And Recurrent Skin Vesicles
Abnormality of the dentition, Angular cheilitis, Skin vesicle, Follicular hyperkeratosis OMIM:613102
Mal De Meleda
Ichthyosis, Congenital symmetrical palmoplantar keratosis, Brachydactyly, Perioral erythema OMIM:248300
Chronic Mucocutaneous Candidiasis
Erythema, Papule, Skin ulcer, Abnormal lip morphology, Hepatitis, Abnormal dental enamel morpholo... ORPHA:1334
Vibratory Urticaria
Facial erythema, Dermatographic urticaria, Flushing, Urticaria OMIM:125630
Late-Onset Junctional Epidermolysis Bullosa
Localized skin lesion, Carious teeth, Oral mucosal blisters, Enamel hypoplasia, Fragile skin ORPHA:79406
Ollier Disease
Micromelia, Skin ulcer, Abnormal cartilage morphology, Joint stiffness, Subcutaneous nodule, Mult... ORPHA:296
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Atypical scarring of skin, Milia, Mitten deformity, Scarring alopecia of scal... ORPHA:251393
Flynn-Aird Syndrome
Carious teeth, Progressive sensorineural hearing impairment, Dermal atrophy, Joint stiffness, Inc... OMIM:136300
Congenital Panfollicular Nevus
Skin nodule, Hyperkeratosis, Verrucous papule ORPHA:139414
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Erythema, Palmoplantar keratoderma, Tooth agenesis, Gingival recession, Ichthyosis, Parakeratosis... OMIM:615821
Intellectual Disability And Myopathy Syndrome
Atopic dermatitis, Dental malocclusion, Cutis marmorata, Limited elbow extension, Thin upper lip ... OMIM:619719
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology, Dermal atrophy, Skin vesicle, Aplasia/Hypoplasia of the skin, ... ORPHA:257
Dyskeratosis Congenita
Carious teeth, Periodontitis, Hypopigmented skin patches, Hearing impairment, Premature graying o... ORPHA:1775
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Low-set ears, Microglossia, Dental malocclusion, Dental crowding, Hea... OMIM:614669
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Microretrognathia, Hearing impairment, Short femoral neck, Tooth agenesis, Microgn... OMIM:618363
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Sensorineural hearing impairment,... OMIM:166750
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormality of the dentition, Subungual hyperkeratosis, Carious teeth, Yellow-brown discoloration... ORPHA:69087
Isolated Agammaglobulinemia
Cellulitis, Pneumonia, Skin ulcer, Otitis media, Skin rash, Clinodactyly of the 5th toe, Arthriti... ORPHA:229717
Hereditary Sensory And Autonomic Neuropathy Type 1
Poor wound healing, Skin ulcer, Hearing impairment, Penetrating foot ulcers, Pathologic fracture,... ORPHA:36386
Angioma Serpiginosum
Erythema, Macule, Vascular skin abnormality ORPHA:95429
Isolated Congenital Hypoglossia/Aglossia
Aplasia/Hypoplasia of fingers, Microglossia, Aspiration pneumonia, Respiratory distress, Temporom... ORPHA:141152
Hereditary Acrokeratotic Poikiloderma
Gingival bleeding, Erythema, Finger syndactyly, Hypopigmented skin patches, Hearing impairment, O... ORPHA:2907
Peeling Skin Syndrome 3
Erythema, White scaling skin, Pruritus OMIM:616265
Dystrophic Epidermolysis Bullosa Pruriginosa
Abnormal forearm morphology, Atrophic scars, Milia, Dermal atrophy, Abnormality of the wrist, Sca... ORPHA:89843
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Dry skin, Inguinal hernia, Ichthyosis, Joint contracture, Scaling skin, Gingivitis, Hyp... OMIM:614457
Ichthyosis Hystrix Of Curth-Macklin
Autoamputation of digits, Ichthyosis, Diffuse palmoplantar hyperkeratosis, Flexion contracture, R... ORPHA:79503
Ramon Syndrome
Conductive hearing impairment, Delayed eruption of teeth, Abnormal dental enamel morphology, Sens... ORPHA:3019
Neuropathy, Hereditary Sensory, Type Iic
Autoamputation of digits, Acral ulceration, Intrinsic hand muscle atrophy OMIM:614213
Infantile Systemic Hyalinosis
Thickened skin, Osteopenia, Skin ulcer, Micromelia, Camptodactyly of finger, Osteomalacia, Abnorm... ORPHA:2176
Temtamy Preaxial Brachydactyly Syndrome
Low-set ears, Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Mic... ORPHA:363417
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Flynn-Aird Syndrome
Carious teeth, Skin ulcer, Progressive sensorineural hearing impairment, Dermal atrophy, Joint st... ORPHA:2047
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis, Macule OMIM:615537
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Erythema, Osteopenia, Limitation of joint mobility, Eczematoid dermatitis, Redundant skin, Osteol... OMIM:259100
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Localized Scleroderma
Erythema, Localized skin lesion, Thickened skin, Hypopigmented skin patches, Esophagitis, Erythem... ORPHA:90289
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ... OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 13
Ichthyosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis OMIM:617574
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Psoriasiform dermatitis, Ichthyosis, E... OMIM:615508
Sweet Syndrome
Inflammation of the large intestine, Erythematous papule, Skin nodule, Acne inversa, Predominantl... ORPHA:3243
Keratoderma Hereditarium Mutilans
Hearing impairment, Honeycomb palmoplantar hyperkeratosis, Autoamputation of digits, Ichthyosis, ... ORPHA:494
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Erythematous papule, Skin-colored papule, Crusting erythematous dermatitis... ORPHA:79148
Cutaneous Photosensitivity And Colitis, Lethal
Erythema, Colitis, Early cutaneous photosensitivity OMIM:219095
Insulin-Resistance Syndrome Type A
Subcutaneous nodule, Hyperkeratosis ORPHA:2297
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... ORPHA:1028
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Rosaï-Dorfman Disease
Erythema, Subcutaneous nodule, Papule, Osteolysis ORPHA:158014
Proliferating Trichilemmal Cyst
Skin ulcer, Epidermoid cyst ORPHA:492
Bullous Impetigo
Pustule, Erythema, Septic arthritis, Recurrent bacterial skin infections ORPHA:36237
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Corneodermatoosseous Syndrome
Erythema, Thickened skin, Carious teeth, Palmoplantar keratoderma, Hearing impairment, Abnormal d... ORPHA:3194
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis, Hypomelanotic macule OMIM:615327
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Palmoplantar keratoderma, Ichthyosis, Palmar hyperlinearity, Eclabion, Hyperkeratosis, ... OMIM:606545
Hypotrichosis 6
Erythema, Pruritus, Follicular hyperkeratosis OMIM:607903
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Mastocytosis, Cutaneous
Erythema, Hypermelanotic macule, Telangiectasia macularis eruptiva perstans, Urticaria OMIM:154800
Shaheen Syndrome
Palmoplantar hyperkeratosis, Carious teeth, Enamel hypoplasia OMIM:615328
Hall-Riggs Syndrome
Thick lower lip vermilion, Hypoplasia of the primary teeth, Enamel hypoplasia, Brachydactyly, Met... OMIM:234250
Keratosis Pilaris Atrophicans
Erythema, Papule, Comedo OMIM:604093
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Hepatitis, Palmoplantar hyperkeratosis, Enamel hypoplasia, Thick vermilion border ORPHA:363523
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Carious teeth, Generalized hypoplasia of dental enamel, Large fleshy ears, Cutaneous finger synda... OMIM:203550
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Atrophic scars, Milia, Enamel hypoplasia, Congenital localized absence of skin, Sy... OMIM:226700
Chromomycosis
Hyperkeratotic papule, Atypical scarring of skin, Keratitis, Hypopigmented skin patches, Hyperpar... ORPHA:182
C1Q Deficiency 2
Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Oral ulcer, Facial erythema, ... OMIM:620321
Rubinstein-Taybi Syndrome 2
Narrow palate, Carious teeth, Dental malocclusion, Retrognathia, Broad thumb, Short 5th toe, Prom... OMIM:613684
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis, Sensorineural hearing impairment ORPHA:2202
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-3 toe cutaneous syndactyly, Conical tooth, Widely spaced teeth, Cutaneous finger syndactyly, 2-... OMIM:613573
Chikungunya
Gingival bleeding, Erythema, Periostitis, Osteolysis, Joint stiffness, Petechiae, Skin rash, Infe... ORPHA:324625
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Erythrokeratoderma ''En Cocardes''
Papule, Hyperkeratosis ORPHA:315
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Palmoplantar keratoderma, Keratitis, Dry skin, Facial erythema, Scarring alopecia o... OMIM:308800
Fountain Syndrome
Craniofacial hyperostosis, Erythema, Short distal phalanx of finger, Coarse metaphyseal trabecula... ORPHA:3219
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cellulitis, Elbow flexion contracture, Knee flexion contracture, Arthritis, Pyoderma gangrenosum,... OMIM:604416
Pfeiffer-Palm-Teller Syndrome
Joint stiffness, Enamel hypoplasia, Abnormal pinna morphology ORPHA:2871
Fixed Drug Eruption
Erythema, Skin erosion, Generalized abnormality of skin, Erythematous plaque, Oral ulcer, Crustin... ORPHA:293812
Rapp-Hodgkin Syndrome
Carious teeth, Velopharyngeal insufficiency, Hearing impairment, Recurrent otitis media, Dry skin... OMIM:129400
Sydenham Chorea
Septic arthritis, Erythema, Endocarditis ORPHA:306731
Papa Syndrome
Limitation of joint mobility, Skin ulcer, Crohn's disease, Pustule, Increased inflammatory respon... ORPHA:69126
Familial Cold Autoinflammatory Syndrome 3
Allergic rhinitis, Erythema, Dermatographic urticaria, Cold urticaria, Angioedema, Recurrent otit... OMIM:614468
Limited Cutaneous Systemic Sclerosis
Joint contracture of the hand, Foot joint contracture, Skin ulcer, Hypopigmented skin patches, Te... ORPHA:220402
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis, Acral ulceration, Skin ulcer ORPHA:139578
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Brooke-Spiegler Syndrome
Skin ulcer, Hearing impairment, Abnormality of the submandibular glands, Skin-colored papule, Sal... ORPHA:79493
Orthostatic Hypotensive Disorder, Streeten Type
Facial erythema, Bruising susceptibility OMIM:143850
Keratolytic Winter Erythema
Erythema, Palmoplantar hyperhidrosis OMIM:148370
Pachyonychia Congenita
Cutaneous cyst, Natal tooth, Oral leukoplakia, Epidermoid cyst, Palmoplantar keratoderma, Respira... ORPHA:2309
Ichthyosis, Congenital, Autosomal Recessive 2
Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Short toe, Hypergranul... OMIM:242100
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Carious teeth, Skin ulcer, Lip fissure, Aphthous ulcer OMIM:620603
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Skin ulcer, Recurrent sinusitis, Recurrent bacterial skin infection... ORPHA:217390
Incontinentia Pigmenti
Erythema, Hypopigmented skin patches, Finger syndactyly, Abnormal hand morphology, Hyperkeratosis... ORPHA:464
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Abnormal trabecular bone morphology, Periapical bone loss, Mandibul... ORPHA:83451
Rothmund-Thomson Syndrome, Type 1
Conical tooth, Recurrent otitis media, Hyperkeratosis, Osteoporosis, Cafe-au-lait spot OMIM:618625
Psoriasis 14, Pustular
Erythema, Furrowed tongue, Psoriasiform dermatitis, Pustule, Parakeratosis, Oligoarthritis, Geogr... OMIM:614204
X-Linked Agammaglobulinemia
Cellulitis, Recurrent pneumonia, Skin ulcer, Hypopigmented skin patches, Hepatitis, Osteomyelitis... ORPHA:47
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Palmoplantar hyperkeratosis, Hypergran... OMIM:615598
Reticular Dysgenesis
Skin rash, Chronic otitis media, Skin ulcer, Hearing impairment ORPHA:33355
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Drug-Induced Localized Lipodystrophy
Erythema, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lipoatrophy ORPHA:90157
Ectodermal Dysplasia/Short Stature Syndrome
Palmoplantar keratoderma, Delayed eruption of teeth, Sensorineural hearing impairment, Hypodontia... OMIM:616029
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Nevus flammeus, Single transverse palmar crea... OMIM:253250
Bullous Pemphigoid
Erythema, Eczematoid dermatitis, Psoriasiform dermatitis, Oral mucosal blisters, Macule, Pruritus... ORPHA:703
Intellectual Disability, Birk-Barel Type
High, narrow palate, Foot joint contracture, Micrognathia, Open mouth, Tented upper lip vermilion... ORPHA:166108
Lethal Osteosclerotic Bone Dysplasia
Low-set ears, Retrognathia, Respiratory distress, Micrognathia, Gingival overgrowth, Median cleft... ORPHA:1832
Parana Hard Skin Syndrome
Thickened skin, Restricted chest movement, Hyperkeratosis, Tapered finger ORPHA:2812
48,Xyyy Syndrome
Long philtrum, Thick lower lip vermilion, Dislocated radial head, Radioulnar synostosis, Enamel h... ORPHA:99329
Superficial Epidermolytic Ichthyosis
Erythema, Palmoplantar keratoderma, Ichthyosis, Acantholysis, Thin skin ORPHA:455
Chime Syndrome
Abnormality of the dentition, Erythema, Aplasia/Hypoplasia of the phalanges of the toes, Clubbing... ORPHA:3474
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormal dental morphology, Increased bone mineral density ORPHA:1653
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Abnormality of the dentition, Milia, Hypomelanotic macule, Oral mucosal bl... ORPHA:79397
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Oral leukoplakia, Dry skin, Angular cheilitis, Follicular hyperkeratosis, Punctate palmoplantar h... OMIM:616295
Familial Cold Urticaria
Erythema, Sensorineural hearing impairment, Arthritis, Conjunctivitis, Pruritus, Urticaria ORPHA:47045
Porphyria Variegata
Localized skin lesion, Skin erosion, Thickened skin, Proximal muscle weakness in upper limbs, Mil... ORPHA:79473
Werner Syndrome
Small hand, Chondrocalcinosis, Subcutaneous calcification, Skin ulcer, Neoplasm of the oral cavit... ORPHA:902
Reynolds Syndrome
Skin ulcer, Generalized abnormality of skin, Skin rash, Infectious encephalitis, Keratoconjunctiv... ORPHA:779
Microscopic Polyangiitis
Erythema, Uveitis, Skin ulcer, Subcutaneous hemorrhage, Cutis marmorata, Episcleritis, Skin rash,... ORPHA:727
Proteus Syndrome
Mandibular hyperostosis, Cerebriform connective tissue nevus, Nevus, Facial hyperostosis, Open mo... OMIM:176920
Calciphylaxis
Cellulitis, Abnormality of skin physiology, Ectopic ossification, Skin ulcer, Cutis marmorata ORPHA:280062
Leukocyte Adhesion Deficiency Type Ii
Small earlobe, Recurrent pneumonia, Conductive hearing impairment, Keratitis, Umbilical hernia, R... ORPHA:99843
Buerger Disease
Livedo reticularis, Acrocyanosis, Skin ulcer ORPHA:36258
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Skin ulcer, Subcutaneous hemorrhage, Aplasia/Hypoplasia of the skin, Purpura, Thin skin ORPHA:743
Intellectual Developmental Disorder, Autosomal Dominant 21
Low-set ears, Long philtrum, Sacral dimple, Narrow mouth, Single transverse palmar crease, Thin v... OMIM:615502
Mycosis Fungoides
Erythema, Eczematoid dermatitis, Psoriasiform dermatitis, Skin plaque, Pruritus OMIM:254400
Cockayne Syndrome Type 2
Hearing impairment, Widely spaced primary teeth, Progeroid facial appearance, Hypoplasia of the p... ORPHA:90322
Prolidase Deficiency
Recurrent pneumonia, Skin ulcer, Eczematoid dermatitis, Micrognathia, Petechiae, Crusting erythem... OMIM:170100
Infantile Myofibromatosis
Chondrocalcinosis, Limitation of joint mobility, Skin ulcer, Bone cyst, Subcutaneous nodule, Ging... ORPHA:2591
Filippi Syndrome
2-4 toe syndactyly, Finger clinodactyly, Serrated incisors, Abnormal dental morphology, Single tr... OMIM:272440
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization OMIM:613211
Kindler Epidermolysis Bullosa
Erythema, Inflammation of the large intestine, Carious teeth, Periodontitis, Finger syndactyly, E... ORPHA:2908
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Dermal atrophy, Interstitial pneumonitis, Telan... ORPHA:454831
Diffuse Cutaneous Systemic Sclerosis
Carious teeth, Skin ulcer, Telangiectasia of the skin, Arthritis, Dyspnea, Flexion contracture, O... ORPHA:220393
Acral Self-Healing Collodion Baby
Erythema, Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Lack of skin elasticity ORPHA:281127
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of the dentition, Skin ulcer, Hearing impairment, Protruding ear, Keratoconjunctiviti... ORPHA:1806
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Fragile skin OMIM:615028
Andersen Cardiodysrhythmic Periodic Paralysis
Low-set ears, Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal... OMIM:170390
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Perching Syndrome
Respiratory distress, Cyanosis, Joint contracture, Camptodactyly, High palate OMIM:617055
Glutamine Deficiency, Congenital
Low-set ears, Erythema, Micromelia, Apnea, Camptodactyly, Thin vermilion border, Flexion contracture OMIM:610015
Specific Granule Deficiency 2
Low-set ears, Tooth malposition, Conical tooth, Recurrent pneumonia, Osteopenia, Sandal gap, Recu... OMIM:617475
Cranioectodermal Dysplasia
Abnormality of the dentition, Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abno... ORPHA:1515
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Osteopenia, Bruising susceptibility, Atrophic scars, Sensorineural hearing impairment, Hernia, Jo... ORPHA:300179
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Enamel hypoplasia, Brachydactyly, Osteoporosis, Short metatarsal, Shor... OMIM:612463
Leishmaniasis
Abnormal oral mucosa morphology, Skin ulcer, Pallor, Abnormal oral cavity morphology, Skin plaque... ORPHA:507
Variegate Porphyria, Childhood-Onset
Atopic dermatitis, Skin erosion, Short finger, Milia, Scarring, Fragile skin, Cutaneous photosens... OMIM:620483
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Erythema, Angioedema, Swollen lip ORPHA:100057
Pycnodysostosis
Small hand, Carious teeth, Micrognathia, Mild conductive hearing impairment, Delayed eruption of ... ORPHA:763
Interstitial Granulomatous Dermatitis With Arthritis
Erythema, Inflammatory abnormality of the skin, Rheumatoid arthritis, Pruritus, Papule ORPHA:79099
Congenital Syphilis
Pneumonia, Periostitis, Keratitis, Hearing impairment, Hyperplasia of the maxilla, Palmoplantar s... ORPHA:499009
Dental Ankylosis
Abnormal dental enamel morphology, Clinodactyly of the 5th finger, Mandibular prognathia, Tooth a... ORPHA:1077
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Skin erosion, Scarring, Skin plaque, Papule, Hyperkeratosis OMIM:247100
Epidermolysis Bullosa Dystrophica, Pretibial
Atrophic scars, Pruritus, Hyperkeratosis OMIM:131850
Takayasu Arteritis
Skin ulcer, Abnormal pattern of respiration, Increased inflammatory response, Arthritis, Inflamma... ORPHA:3287
Meige Disease
Cellulitis, Atypical scarring of skin, Skin erosion, Skin ulcer, Cobblestone-like hyperkeratosis,... ORPHA:90186
Acrootoocular Syndrome
Low-set ears, Atresia of the external auditory canal, Abnormal earlobe morphology, Micrognathia, ... ORPHA:2980
Polyarteritis Nodosa
Erythema, Skin ulcer, Cutis marmorata, Subcutaneous nodule, Pericarditis ORPHA:767
Drug Reaction With Eosinophilia And Systemic Symptoms
Erythema, Hepatitis, Angioedema, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pu... ORPHA:139402
Blepharophimosis-Impaired Intellectual Development Syndrome
Low-set ears, Short distal phalanx of finger, Recurrent pneumonia, Dental malocclusion, Widely sp... OMIM:619293
Erythrokeratodermia Variabilis Et Progressiva 6
Abnormal dental morphology, Erythematous plaque, Superficial dermal perivascular inflammatory inf... OMIM:618531
Lamellar Ichthyosis
Abnormality of the dentition, Abnormal helix morphology, Dry skin, Ichthyosis, Lack of skin elast... ORPHA:313
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Clinodactyly, Hyperpigmented papule, Preauricular pit, Syndactyly, Brachydactyly, Osteolysis invo... ORPHA:88630
Familial Keratoacanthoma
Subcutaneous nodule, Papule, Hyperkeratosis, Skin ulcer ORPHA:493
Familial Tumoral Calcinosis
Abnormality of the dentition, Erythema, Hypopigmented skin patches, Hyperostosis, Periarticular s... ORPHA:53715
Autosomal Dominant Severe Congenital Neutropenia
Cellulitis, Pneumonia, Osteopenia, Periodontitis, Recurrent aphthous stomatitis, Oral ulcer, Pyod... ORPHA:486
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
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
Erythema, Palmoplantar keratoderma, Smooth tongue, Generalized abnormality of skin, Atrophic scar... ORPHA:79396
Congenital Disorder Of Glycosylation, Type Iik
Low-set ears, Malar flattening, Joint hypermobility, Amelogenesis imperfecta, Diaphyseal dysplasi... 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
Cupped ear, Downturned corners of mouth, Hearing impairment, Eczematoid dermatitis, Micrognathia,... OMIM:617052
Free Sialic Acid Storage Disease
Reduced bone mineral density, Skin ulcer, Abnormality of the upper limb ORPHA:834
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Periostitis, Osteomyelitis, Skin ulcer ORPHA:2218
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth, Rickets, Delayed e... OMIM:277440
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent sinusitis, Pyoderma gangrenosum, Recurrent ski... OMIM:616576
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Focal Dermal Hypoplasia
Low-set ears, Erythema, Toe syndactyly, Hearing impairment, Finger syndactyly, Open bite, Dermal ... ORPHA:2092
Rothmund-Thomson Syndrome Type 2
Erythema, Carious teeth, Porokeratosis, Dermal atrophy, Patellar aplasia, Aplasia/hypoplasia invo... ORPHA:221016
Dermatoleukodystrophy
Thickened skin, Hyperkeratosis ORPHA:1659
Centrifugal Lipodystrophy
Erythema, Inflammatory abnormality of the skin, Lymphadenitis, Absence of subcutaneous fat, Reduc... ORPHA:90156
Braddock-Carey Syndrome 1
Small hand, Clinodactyly, Macrotia, Talipes equinovarus, Enamel hypoplasia, Everted lower lip ver... OMIM:619980
Auriculocondylar Syndrome
Hearing impairment, Question mark ear, Micrognathia, Narrow mouth, Abnormal pinna morphology, Ham... ORPHA:137888
Mhc Class I Deficiency 1
Chronic otitis media, Bronchiectasis, Skin ulcer, Chronic sinusitis OMIM:604571
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep philtrum, Bra... OMIM:605282
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Punctate Palmoplantar Keratoderma Type 1
Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Verrucous papul... ORPHA:79501
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Retrognathia, Dry skin, Postaxial polydactyly, Enamel hypopl... OMIM:614576
Beta-Thalassemia
Reduced bone mineral density, Hepatitis, Pallor, Skin ulcer ORPHA:848
Primary Erythromelalgia
Erythema, Pruritus ORPHA:90026
Hamamy Syndrome
Low-set ears, Micrognathia, Sensorineural hearing impairment, Everted lower lip vermilion, High p... OMIM:611174
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Dentinogenesis imperfecta, Hypermobility of interphalangeal joints, Del... OMIM:613849
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Scarring alopecia of scalp, Carious teeth, Macular hyperpigmented dermopathy OMIM:619787
Palmoplantar Keratoderma And Congenital Alopecia 1
Plantar hyperkeratosis, Palmoplantar erythema, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Warty Dyskeratoma
Localized skin lesion, Erythematous papule, Oral mucosa nodule, Abnormal hard palate morphology, ... ORPHA:69745
Lowry-Maclean Syndrome
High, narrow palate, Dermoid cyst, Hypoplasia of the maxilla, Low-set ears, Osteopenia, Downturne... ORPHA:2409
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Oculoskeletodental Syndrome
Short 5th finger, Abnormality of the dentition, Conductive hearing impairment, Retrognathia, Hear... ORPHA:557003
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Autoamputation of digits, Distal upper limb muscle weakness, Skin ulcer, Osteomyelitis OMIM:613640
Epidermolysis Bullosa, Lethal Acantholytic
Skin erosion, Natal tooth, Sandal gap, Widely spaced toes, Mitten deformity, Aplasia cutis congen... OMIM:609638
Bathing Suit Ichthyosis
Thickened skin, Autoamputation of digits, Multiple joint contractures, Ichthyosis, Parakeratosis,... ORPHA:100976
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Palmoplantar keratoderma, Tooth agenesis, Palmoplantar scaling skin, Palmoplantar erythema, Palmo... OMIM:605676
Hajdu-Cheney Syndrome
Low-set ears, Thickened skin, Periodontitis, Hearing impairment, Open bite, Dry skin, Micrognathi... ORPHA:955
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Genu valgum, Prominent median palata... OMIM:300602
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... 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
Clinodactyly, Widely spaced teeth, Respiratory distress, Micrognathia, Wide mouth, Macrotia OMIM:300934
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Con... ORPHA:199306
Mycetoma
Cutaneous cyst, Painless fractures due to injury, Pathologic fracture, Osteomyelitis, Cobblestone... ORPHA:2583
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Fragile skin, Scaling skin OMIM:146590
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Limitation of joint mobility ORPHA:2680
Bazex Syndrome
Palmoplantar keratoderma, Lip hyperpigmentation, Parakeratosis, Acanthosis nigricans, Scaling ski... ORPHA:166113
Epidermolytic Palmoplantar Keratoderma
Interphalangeal joint contracture of finger, Hypergranulosis, Diffuse palmoplantar hyperkeratosis... ORPHA:2199
Pemphigus Erythematosus
Localized skin lesion, Skin erosion, Focal dermal aplasia/hypoplasia, Hypopigmented skin patches,... ORPHA:79480
Autosomal Erythropoietic Protoporphyria
Erythema, Pruritus, Cutaneous photosensitivity, Eczematoid dermatitis ORPHA:79278
Systemic Sclerosis
Thickened skin, Digital ulcer, Finger swelling, Narrow mouth, Telangiectasia, Glomerulonephritis,... ORPHA:90291
Immunoglobulin A Vasculitis
Erythema, Skin ulcer, Angioedema, Vascular skin abnormality, Bruising susceptibility, Episcleriti... ORPHA:761
Seckel Syndrome 5
Low-set ears, Retrognathia, Selective tooth agenesis, Micrognathia, Oligodontia, Hypodontia, Enam... OMIM:613823
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Micrognathia, Broad fi... ORPHA:2751
Lethal Recessive Chondrodysplasia
Micromelia, Respiratory distress, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Genera... ORPHA:1423
Chronic Granulomatous Disease
Skin ulcer, Eczematoid dermatitis, Otitis media, Inflammatory abnormality of the eye, Macule, Sin... ORPHA:379
Disabling Pansclerotic Morphea Of Childhood
Joint contracture, Skin ulcer, Oral ulcer, Morphea OMIM:620443
Xeroderma Pigmentosum
Craniofacial hyperostosis, Abnormality of the dentition, Erythema, Thickened skin, Hypopigmented ... ORPHA:910
Rothmund-Thomson Syndrome
Carious teeth, Porokeratosis, Aplasia/Hypoplasia of the patella, Osteopenia, Aplasia/Hypoplasia o... ORPHA:2909
Lenz-Majewski Hyperostotic Dwarfism
Prominent scalp veins, Cutaneous finger syndactyly, Micrognathia, Cutis marmorata, Humeroradial s... OMIM:151050
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Livedo, Facial telangiectasia, Telangiectasia, Conical incisor, Enamel hypoplasia OMIM:614564
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Sensorineural hearing impa... OMIM:602540
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, Micrognathia, Knee fl... ORPHA:1143
Pityriasis Rubra Pilaris
Thickened skin, Subungual hyperkeratosis, Palmoplantar keratoderma, Eczematoid dermatitis, Ichthy... ORPHA:2897
Scarf Syndrome
Long philtrum, Umbilical hernia, Low-set, posteriorly rotated ears, Inguinal hernia, Joint hyperm... ORPHA:3134
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Limitation of joint mobility, Recurrent aphthous stomatitis, Peritonitis, Arthritis, Ac... ORPHA:343
Lipoid Proteinosis
Abnormal oral mucosa morphology, Thickened skin, Acne, Microglossia, Thick lower lip vermilion, P... ORPHA:530
Granulomatous Slack Skin
Erythema, Cutis laxa, Redundant skin ORPHA:33111
Seckel Syndrome 1
Low-set ears, Dental malocclusion, Dental crowding, Selective tooth agenesis, Dislocated radial h... OMIM:210600
Sting-Associated Vasculopathy, Infantile-Onset
Erythema, Pustular rash, Joint stiffness, Malar rash, Cutis marmorata, Skin rash, Pustule, Myosit... OMIM:615934
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Atrophic scars, Corneal scarring, Milia, Narrow mouth, Oral mucosal blisters, Mitten deformity, E... OMIM:226600
Juvenile Dermatomyositis
Erythema, Limitation of joint mobility, Skin ulcer, Dry skin, Skin rash, Myositis, Telangiectasia... ORPHA:93672
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Finger clinodactyly, Widely spaced teeth, Periapical tooth abscess, Enamel hy... ORPHA:3352
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Micrognathia, Malar flattening, Hypodontia, Radioulnar synostosis, Enamel hypoplasi... OMIM:212780
Costello Syndrome
Abnormality of the dentition, Ulnar deviation of finger, Thick lower lip vermilion, Abnormal dent... ORPHA:3071
Acrodermatitis Enteropathica
Erythema, Skin ulcer, Generalized abnormality of skin, Dry skin, Furrowed tongue, Pustule, Conjun... ORPHA:37
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Increased bone density with cystic changes, Enamel hypoplasia, Cortica... ORPHA:94089
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta, Rhizomelia, Osteopenia, Hearing impairment, Bowing of the arm, Joint h... OMIM:301014
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Erythroderma, Generaliz... OMIM:615024
Xeroderma Pigmentosum, Complementation Group F
Erythema, Hearing impairment, Flexion contracture, Papule, Cutaneous photosensitivity OMIM:278760
Cryoglobulinemic Vasculitis
Skin ulcer, Cutis marmorata, Petechiae, Keratoconjunctivitis sicca, Arthritis, Purpura, Viral hep... ORPHA:91138
Familial Multiple Nevi Flammei
Skin ulcer, Hypermelanotic macule, Nevus flammeus, Papule, Abnormality of the upper limb ORPHA:624
Raine Syndrome
Low-set ears, Natal tooth, Arthrogryposis multiplex congenita, Long hallux, Micrognathia, Narrow ... OMIM:259775
Sjogren-Larsson Syndrome
Flexion contracture, Enamel hypoplasia, Ichthyosis OMIM:270200
Protoporphyria, Erythropoietic, 1
Erythema, Pruritus, Eczematoid dermatitis OMIM:177000
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Erythema, Retrognathia, Long philtrum, Dry skin, Eclabion, Reduced bone mineral density, Congenit... OMIM:620510
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Delayed eruption of teet... OMIM:264700
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Dermal atrophy, Psoriasiform lesion, Malar rash, Cutaneous photosensitivity, ... ORPHA:163525
Trichothiodystrophy
Carious teeth, Dry skin, Bilateral sensorineural hearing impairment, Cutaneous photosensitivity, ... ORPHA:33364
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
High palate, Enamel hypoplasia, Retrognathia OMIM:617915
Warburg-Cinotti Syndrome
Low-set ears, Ankle flexion contracture, Erythema, Hypoplasia of the ear cartilage, Dental crowdi... OMIM:618175
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Atrophic scars, Milia, Oral mucosal blisters, Enamel hypoplasia, Aplasia cutis congenita on trunk... OMIM:226730
Acquired Purpura Fulminans
Macular purpura, Skin rash, Macule, Pyoderma gangrenosum, Acrocyanosis, Erythematous macule ORPHA:49566
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Delayed eruption of teeth, Sensorineural hearing impairment, Osteoporo... ORPHA:71267
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
Den Hoed-De Boer-Voisin Syndrome
Small hand, Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Sa... OMIM:619229
Snijders Blok-Campeau Syndrome
Low-set ears, Widely spaced teeth, Umbilical hernia, Inguinal hernia, Joint hypermobility, Taurod... OMIM:618205
Fusariosis
Cellulitis, Papule, Pneumonia, Keratitis, Skin ulcer, Fasciitis, Osteomyelitis, Maculopapular exa... ORPHA:228119
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Enamel hypoplasia, Malar flattening, Thin vermilion border ORPHA:139474
Pgm3-Cdg
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Bronchiectasis, Conductive hearing imp... ORPHA:443811
Leopard Syndrome 3
Low-set ears, Multiple lentigines, Dry skin, Few cafe-au-lait spots, Sensorineural hearing impair... OMIM:613707
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Rothmund-Thomson Syndrome Type 1
Carious teeth, Porokeratosis, Dermal atrophy, Patellar aplasia, Telangiectasia, Short metacarpal,... ORPHA:221008
Dominant Beta-Thalassemia
Abnormality of the dentition, Skin ulcer, Hyperplasia of the maxilla, Malar prominence, Genu valg... ORPHA:231226
Rheumatic Fever
Erythema, Pallor, Macule, Arthritis, Sinusitis, Myocarditis, Subcutaneous nodule, Endocarditis, P... ORPHA:3099
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Recurrent aphthous stomatitis, Pyoderma gangrenosum, Bronchiectasis, Chronic... OMIM:150550
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Hearing impairment, Tooth agenesis, Abnormal dental enamel morphology,... ORPHA:2325
Microcephalic Primordial Dwarfism, Toriello Type
Brachydactyly, Enamel hypoplasia, Downturned corners of mouth ORPHA:2643
Atkin-Flaitz Syndrome
Abnormality of the dentition, Everted lower lip vermilion, Thick vermilion border, Maxillary late... ORPHA:1193
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Clinodactyly, Sandal gap, Broad hallux, 3-4 toe syndactyly, P... OMIM:618727
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Atopic dermatitis, Parakeratosis, Scaling skin, Pruritus, Hyperkeratosis ORPHA:90368
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Chronic Graft Versus Host Disease
Erythema, Thickened skin, Poor wound healing, Skin ulcer, Urinary bladder inflammation, Fasciitis... ORPHA:99921
Ichthyosis, Congenital, Autosomal Recessive 11
Congenital ichthyosiform erythroderma, Conical primary incisor, Pruritus, Hyperkeratosis, Blephar... OMIM:602400
48,Xxyy Syndrome
Broad jaw, Carious teeth, Delayed eruption of teeth, Elbow dislocation, Thick lower lip vermilion... ORPHA:10
Poikiloderma With Neutropenia
Recurrent pneumonia, Carious teeth, Palmoplantar keratoderma, Retrognathia, Long philtrum, Recurr... OMIM:604173
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Psoriasiform lesion, Erythematous plaque, Superficial dermal perivascular inflammatory infiltrate... ORPHA:284426
Pemphigus Vulgaris
Atypical scarring of skin, Urticarial plaque, Erosion of oral mucosa, Oral mucosal blisters, Acan... ORPHA:704
Odontochondrodysplasia 1
Mesomelia, Dentinogenesis imperfecta, Metaphyseal cupping, Delayed eruption of teeth, Long philtr... OMIM:184260
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Low-set ears, Erythema, Hand clenching, Corneal scarring, Apnea, Open mouth, Aspiration, Talipes ... OMIM:614653
Darier-White Disease
Palmar pits, Plantar pits, Enlargement of parotid gland, Acrokeratosis, Subungual hyperkeratotic ... OMIM:124200
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Oculodentodigital Dysplasia, Autosomal Recessive
Low-set ears, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Fift... OMIM:257850
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Low-set ears, Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Sandal gap, Wi... 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
Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Dental crowding, Long phil... OMIM:190351
Odontochondrodysplasia
Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia, Micromelia, Respiratory distr... ORPHA:166272
Cockayne Syndrome Type 1
Abnormality of the dentition, Foot joint contracture, Hearing impairment, Widely spaced primary t... ORPHA:90321
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Low-set ears, Single transverse palmar crease, Adducted thumb, Brachydactyly, Notched primary cen... OMIM:620062
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Thin skin, Respiratory distress, Micrognathia, Thin vermilion border, Short philtrum, Lipoatrophy... ORPHA:261304
Pseudohypoparathyroidism, Type Ia
Short toe, Delayed eruption of teeth, Short finger, Enamel hypoplasia, Brachydactyly, Subcutaneou... OMIM:103580
Dysosteosclerosis
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption of teeth, Heari... ORPHA:1782
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hearing impairment OMIM:618349
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Livedoid Vasculopathy
Erythematous papule, Skin ulcer, Poor wound healing, Macular purpura, Atrophic scars, Cutis marmo... ORPHA:542643
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Aplasia/Hypoplasia of the earlobes, Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, U... ORPHA:1555
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth... ORPHA:166277
Wiskott-Aldrich Syndrome
Gingival bleeding, Inflammation of the large intestine, Blepharitis, Keratitis, Skin ulcer, Eczem... ORPHA:906
Schopf-Schulz-Passarge Syndrome
Palmoplantar keratoderma, Dry skin, Hypodontia, Ectodermal dysplasia, Hyperkeratosis OMIM:224750
Acrokeratosis Verruciformis
Verrucous papule, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis OMIM:101900
Neutrophilic Dermatosis, Acute Febrile
Erythema, Acne inversa, Cystic acne, Pyoderma gangrenosum, Panniculitis OMIM:608068
Attenuated Chédiak-Higashi Syndrome
Gingival bleeding, Bruising susceptibility, Skin ulcer ORPHA:352723
Cleidocranial Dysplasia 1
Absent paranasal sinuses, Hearing impairment, Micrognathia, Delayed pubic bone ossification, Dela... OMIM:119600
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Gingiv... OMIM:618729
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal helix morphology, Synostosis of carpal bones, Finger syndactyly, Abnormal dental enamel ... ORPHA:1005
Relapsing Polychondritis
Erythema, Uveitis, Keratitis, Hepatitis, Abnormal pattern of respiration, Conjunctivitis, Limitat... ORPHA:728
Neuropathy, Hereditary Sensory, Type If
Osteomyelitis, Metatarsal fracture, Osteolytic defects of the phalanges of the hand, Hallux valgu... OMIM:615632
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Misalignment of incisors, Joint stiffness, Bicoronal synostosis, Oligodontia, Jo... OMIM:619184
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition, Cortical sclerosis OMIM:125440
Dermatomyositis
Cellulitis, Erythema, Dry skin, Cutaneous photosensitivity, Heliotrope rash, Myositis, Arthritis,... ORPHA:221
Blau Syndrome
Posterior uveitis, Erythema, Papule, Keratitis, Skin ulcer, Limitation of joint mobility, Camptod... ORPHA:90340
Recessive X-Linked Ichthyosis
Dry skin, Hyperkeratosis, Ichthyosis ORPHA:461
Singleton-Merten Syndrome 2
Abnormality of the dentition, Osteopenia, Psoriasiform lesion, Osteolytic defects of the phalange... OMIM:616298
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta, Osteopenia, Anterior radial head dislocation, Joint hypermobility, Lim... OMIM:610967
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the dentition, Carious teeth, Toe syndactyly, Hypoplasia of the zygomatic bone, Cl... ORPHA:3253
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent otitis media, Hearing impairment, Polydactyly OMIM:615993
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Microtia, first degree, Widely spaced teeth, Peg-shaped maxillary lateral incisors... OMIM:610706
Peeling Skin Syndrome 5
Hyperkeratosis, Scaling skin OMIM:617115
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Ectopic accessory finger-like appendage, Postaxial foot polydac... ORPHA:2919
Moebius Syndrome
Bifid uvula, Abnormality of the dentition, Hand clenching, Clinodactyly, Radial deviation of fing... OMIM:157900
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta, Hearing impairment, Bowing of the long bones, Thin bony cortex, Multip... OMIM:619795
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Low-set ears, Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Respiratory distress, Cl... ORPHA:2759
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Short 1st metacarpal, Retrogn... OMIM:210720
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dental crowding, Progeroid facial appearance, Generalized lipodystrophy, Dermal atrophy, Microgna... OMIM:608612
Adult Syndrome
Abnormality of the dentition, Toe syndactyly, Skin ulcer, Finger syndactyly, Abnormal dental morp... ORPHA:978
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Carious teeth, Camptodactyly of finger, Hidrotic ectodermal dysplasia, Joint contracture of the 5... ORPHA:1883
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Herpes Simplex Virus Stromal Keratitis
Herpetiform vesicles, Keratitis ORPHA:137599
Snakebite Envenomation
Gingival bleeding, Erythema, Localized skin lesion, Angioedema, Ecchymosis ORPHA:449285
Immunodeficiency 23
Allergic rhinitis, Erythema, Conductive hearing impairment, Eczematoid dermatitis, Chronic mucocu... OMIM:615816
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Arthrogryposis And Ectodermal Dysplasia
Joint contracture of the hand, Atypical scarring of skin, Cleft upper lip, Abnormal dental enamel... OMIM:601701
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Perioral erythema, Pustule, Erythroderma, Blepharitis OMIM:614328
Oculodentodigital Dysplasia
Uveitis, Carious teeth, Conductive hearing impairment, Clinodactyly, Selective tooth agenesis, Cl... OMIM:164200
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Low-set ears, Joint contracture of the hand, Small hand, Cutaneous finger syndactyly, Narrow mout... OMIM:235510
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Periostitis, Respiratory distress, Osteomyelitis, Skin rash, Pustule, Hyperkeratosis,... OMIM:612852
Toxic Epidermal Necrolysis
Erythema, Skin ulcer, Respiratory distress, Pancreatitis, Macule, Conjunctivitis, Acantholysis ORPHA:537
Premature Aging Syndrome, Penttinen Type
Thickened skin, Dermal atrophy, Micrognathia, Sensorineural hearing impairment, Flexion contractu... OMIM:601812
Cleidocranial Dysplasia
Carious teeth, Hearing impairment, Open bite, Micrognathia, Genu valgum, Decreased skull ossifica... ORPHA:1452
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia, Umbilical hernia OMIM:254120
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Erythematous papule, Skin ulcer, Erythematous plaque ORPHA:86884
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Abnormal dental enamel morphology, Ichthyosis, Oligodontia, Hypodontia, Scarring alopecia of scal... ORPHA:59303
Tularemia
Pneumonia, Localized skin lesion, Cutaneous abscess, Respiratory distress, Otitis media, Oral ulc... ORPHA:3392
Scarf Syndrome
Low-set ears, Lambdoidal craniosynostosis, Coronal craniosynostosis, Long philtrum, Umbilical her... OMIM:312830
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia ORPHA:3196
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Respiratory distress, Talipes equinovarus, High palate, Cleft palate OMIM:614399
Marshall Syndrome
Low-set ears, Radial bowing, Thick upper lip vermilion, Recurrent otitis media, Micrognathia, Sen... OMIM:154780
Subcorneal Pustular Dermatosis
Pustule, Erythema, Pruritus, Rheumatoid arthritis ORPHA:48377
Xfe Progeroid Syndrome
Hearing impairment, Dry skin, Corneal scarring, Dermal atrophy, Absence of subcutaneous fat, Enam... OMIM:610965
Gaucher Disease, Perinatal Lethal
Low-set ears, Everted upper lip vermilion, Retrognathia, Respiratory distress, Apnea, Open mouth,... OMIM:608013
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Hearing impairment, Long philtrum, Umbilical hernia, Wide distal femor... OMIM:614856
Atypical Werner Syndrome
Subcutaneous calcification, Limitation of joint mobility, Neoplasm of the oral cavity, Sclerosis ... ORPHA:79474
Adult Polyglucosan Body Disease
Limitation of joint mobility, Skin ulcer ORPHA:206583
Heimler Syndrome 1
Amelogenesis imperfecta, Enamel hypoplasia, Sensorineural hearing impairment OMIM:234580
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Beta-Thalassemia Major
Abnormality of the dentition, Skin ulcer, Hyperplasia of the maxilla, Malar prominence, Genu valg... ORPHA:231214
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te... OMIM:618067
Blau Syndrome
Uveitis, Nongranulomatous uveitis, Skin ulcer, Eczematoid dermatitis, Camptodactyly of finger, Sy... OMIM:186580
Psoriasis 2
Parakeratosis, Psoriasiform dermatitis, Hyperkeratosis, Scaling skin OMIM:602723
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Joint hypermobility, Follicular hyperkeratosis, Joint contracture, High palate OMIM:617066
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin ulcer, Eczematoid dermatitis, Urticarial plaque, Recurrent otitis media, Cutis marmorata, Ap... OMIM:615688
Nail-Patella Syndrome
Abnormal tibia morphology, Contracture of the distal interphalangeal joint of the fingers, Patell... ORPHA:2614
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Osteomyelitis, Foot osteomyelitis, Acral ulceration, Sensorineural hearing impairment OMIM:162400
Incontinentia Pigmenti
Erythema, Conical tooth, Keratitis, Delayed eruption of teeth, Pallor, Oligodontia, Hypodontia, S... OMIM:308300
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Osteopenia, Otosclerosis, Hearing impairment, Bruising susceptibility,... OMIM:166200
Lacrimoauriculodentodigital Syndrome 3
Carious teeth, Cupped ear, Hearing impairment, Short thumb, Widely spaced teeth, Partial duplicat... OMIM:620193
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Enamel hypoplasia, Brachydactyly, Osteoporosis, Short metatarsal, Shor... OMIM:612462
Eec Syndrome
Carious teeth, Toe syndactyly, Finger syndactyly, Dry skin, Sensorineural hearing impairment, Apl... ORPHA:1896
Mandibuloacral Dysplasia
Increased subcutaneous truncal adipose tissue, Dental crowding, Contractures of the large joints,... ORPHA:2457
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Carious teeth, Dysplasia of the femoral head, Micrognathia, Arachnodactyly, Talipes... ORPHA:536467
Tooth Agenesis, Selective, 4
Tooth agenesis, Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality o... OMIM:150400
Orofaciodigital Syndrome I
Low-set ears, Carious teeth, Hearing impairment, Clinodactyly, Ankyloglossia, High palate, Syndac... OMIM:311200
Cranioectodermal Dysplasia 1
Low-set ears, Clinodactyly, Anodontia, Broad distal phalanges of all fingers, Ectodermal dysplasi... OMIM:218330
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Slender finger, Downturned corners of mouth, Long philtrum, Clinodactyly, Dorsocervical fat pad, ... ORPHA:391408
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized hyperkeratosis, Dry skin, Cutis laxa, Generalized ichthyosis, Scaling skin, Eclabion ORPHA:2269
Ifap Syndrome 2
Ichthyosis follicularis, Posterior blepharitis, Keratitis, Perioral erythema, Angular cheilitis, ... OMIM:619016
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Osteomalacia, Open bite, Micrognathia, Open mouth, Genu valgum, Eve... ORPHA:534
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Arthrogryposis mu... OMIM:254210
Oculodentodigital Dysplasia
Toe syndactyly, Carious teeth, Hearing impairment, Finger syndactyly, Clinodactyly, Micrognathia,... ORPHA:2710
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Delayed eruption of teet... ORPHA:289157
Nance-Horan Syndrome
Diastema, Supernumerary maxillary incisor, Broad finger, Mulberry molar, Short phalanx of finger,... OMIM:302350
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Brittle Cornea Syndrome 1
Dentinogenesis imperfecta, Atypical scarring of skin, Hearing impairment, Molluscoid pseudotumors... OMIM:229200
Short Syndrome
Abnormality of the dentition, Abnormal mandible morphology, Abnormal dental enamel morphology, Ma... ORPHA:3163
Kniest Dysplasia
Delayed epiphyseal ossification, Rhizomelia, Conductive hearing impairment, Dumbbell-shaped femur... OMIM:156550
Pde4D Haploinsufficiency Syndrome
Hearing impairment, Micrognathia, Broad phalanx, Bilateral coxa valga, Short metacarpal, Hypoplas... ORPHA:439822
Pseudohypoparathyroidism Type 1C
Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossification, Short 3rd metaca... ORPHA:79444
Congenital Disorder Of Glycosylation, Type Iq
Low-set ears, Eczematoid dermatitis, Dry skin, Ichthyosis, Cutis laxa, Hyperkeratosis OMIM:612379
Olmsted Syndrome 2
Palmoplantar keratoderma, Perioral hyperkeratosis, Flexion contracture of digit, Parakeratosis, P... OMIM:619208
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Finger syndactyly, Elbow ankylosis, Abnormal metacarpal morphology,... ORPHA:2658
Beta-Thalassemia Intermedia
Osteopenia, Skin ulcer, Pallor, Increased susceptibility to fractures, Jaundice, Osteoporosis, Re... ORPHA:231222
Kid Syndrome
Prelingual sensorineural hearing impairment, Posterior blepharitis, Psoriasiform dermatitis, Dela... ORPHA:477
Beare-Stevenson Cutis Gyrata Syndrome
Bifid uvula, Narrow palate, Natal tooth, Atresia of the external auditory canal, Respiratory dist... OMIM:123790
Myopathy And Diabetes Mellitus
Hyporeflexia of upper limbs, Shoulder girdle muscle weakness, Respiratory distress, Sensorineural... ORPHA:2596
Lethal Acantholytic Erosive Disorder
Abnormal helix morphology, Natal tooth, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger s... ORPHA:158687
Pseudohypoparathyroidism Type 1A
Broad 1st metacarpal, Short fifth metatarsal, Broad distal phalanx of the thumb, Ectopic ossifica... ORPHA:79443
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Chronic mucocutaneous candidiasis, Skin ulcer, Poor wound healing, Osteomyelitis, ... OMIM:116920
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Thickened skin, Osteopenia, Dental malocclusion, Clinodactyly of the 2nd finger, Long philtrum, M... ORPHA:73223
Aredyld Syndrome
Craniofacial hyperostosis, Mandibular prognathia, Abnormal dental enamel morphology, Low-set, pos... ORPHA:1133
Adult-Onset Still Disease
Erythema, Hepatitis, Interstitial pneumonitis, Skin rash, Myocarditis, Arthritis, Cartilage destr... ORPHA:829
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Cockayne Syndrome A
Atypical scarring of skin, Carious teeth, Dental malocclusion, Abnormal auditory evoked potential... OMIM:216400
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Umbilical hernia, Respiratory distress, Dry skin, Prolonged neon... ORPHA:226313
Cranioectodermal Dysplasia 3
2-4 toe syndactyly, Rhizomelia, Sandal gap, Widely spaced teeth, Dry skin, Micrognathia, Joint hy... OMIM:614099
X-Linked Intellectual Disability Due To Gria3 Mutations
Macrodontia of permanent maxillary central incisor, Narrow palate, Thick vermilion border, Open m... ORPHA:364028
Stuve-Wiedemann Syndrome 2
Respiratory distress, Camptodactyly, Bowing of the long bones, Eczematoid dermatitis OMIM:619751
Nodular Non-Suppurative Panniculitis
Erythema, Aplasia/Hypoplasia of the skin, Inflammatory abnormality of the eye, Subcutaneous nodul... ORPHA:33577
Infantile Digital Fibromatosis
Skin nodule, Parakeratosis, Hyperkeratosis ORPHA:199267
Congenital Disorder Of Glycosylation, Type If
Dry skin, Erythroderma, Scaling skin, Thin vermilion border, Flexion contracture, Hyperkeratosis OMIM:609180
Lig4 Syndrome
Erythema, Micrognathia, Telangiectasia of the skin, Thin vermilion border, Clinodactyly of the 5t... ORPHA:99812
Bloom Syndrome
Facial telangiectasia in butterfly midface distribution, Malar rash, Malar flattening, Cutaneous ... OMIM:210900
Mandibuloacral Dysplasia With Type A Lipodystrophy
Increased adipose tissue around the neck, Dermal atrophy, Micrognathia, Reduced subcutaneous adip... OMIM:248370
Alfadhel Syndrome
Low-set ears, Retrognathia, Joint hypermobility, Smooth philtrum, Talipes equinovarus, Thin vermi... OMIM:620655
Acrocallosal Syndrome
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Everted upper lip vermilion, Hearing im... OMIM:200990
Congenital Disorder Of Glycosylation, Type Ie
High, narrow palate, Ankle flexion contracture, Small hand, Upper limb undergrowth, Respiratory d... OMIM:608799
Stimmler Syndrome
Abnormal dental enamel morphology, Microdontia ORPHA:3199
Cenani-Lenz Syndrome
High, narrow palate, Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Hearing im... ORPHA:3258
Ohdo Syndrome
Hearing impairment, Long philtrum, Widely spaced teeth, Micrognathia, Narrow mouth, Joint hypermo... OMIM:249620
Koolen-De Vries Syndrome
High, narrow palate, Abnormality of the dentition, Abnormal dental enamel morphology, Dry skin, I... ORPHA:96169
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Low-set ears, Erythema, Arthrogryposis multiplex congenita, Recurrent otitis media, Dry skin, Cle... OMIM:619503
Rothmund-Thomson Syndrome, Type 2
Small hand, Premature graying of hair, Dermal atrophy, Micrognathia, Telangiectasia, Talipes equi... OMIM:268400
Harlequin Ichthyosis
Limitation of joint mobility, Congenital ichthyosiform erythroderma, Ichthyosis, Hand polydactyly... ORPHA:457
Spondylocarpotarsal Synostosis Syndrome
Preauricular skin tag, Block vertebrae, Failure of eruption of permanent teeth, Carpal synostosis... OMIM:272460
Epidermodysplasia Verruciformis, Susceptibility To, 4
Facial erythema, Stomatitis OMIM:618307
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Increased connective tissue ORPHA:238329
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Elbow dislocation, Abnorma... ORPHA:3236
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Palmoplantar keratoderma, Poor wound healing, Dry skin, Facial erythema, Flexion contracture of f... ORPHA:1010
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Amelogenesis imperfecta, Enamel hypoplasia, Skin ulcer OMIM:245660
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal oral mucosa morphology, Abnormal fingertip morphology, Skin erosion, Pneumonia, Respirat... ORPHA:79404
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Respiratory distress, Paradoxical respiration, Talipes equinova... OMIM:620011
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Ankyloglossia, Malar flattening, Bilateral cleft palate, Thin upper lip vermilion, Bilateral clef... OMIM:618874
Acrokeratosis Verruciformis Of Hopf
Hypergranulosis, Skin-colored papule, Punctate palmoplantar hyperkeratosis, Skin plaque, Hyperker... ORPHA:79151
Tetrasomy 5P
Low-set ears, Long philtrum, Respiratory distress, Preauricular pit, Micrognathia, Overlapping to... ORPHA:3309
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Pallor OMIM:613561
Orofaciodigital Syndrome Type 1
Hearing impairment, Finger syndactyly, Open bite, Dry skin, Micrognathia, Foot polydactyly, High ... ORPHA:2750
Linear Verrucous Nevus Syndrome
Toe syndactyly, Reduced bone mineral density, Verrucous papule, Hyperkeratosis, Short metacarpal ORPHA:2611
Bacterial Toxic-Shock Syndrome
Cellulitis, Localized skin lesion, Tachypnea, Glomerulonephritis, Recurrent skin infections, Oste... ORPHA:36234
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Decreased calvarial ossific... OMIM:259440
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Low-set ears, Sandal gap, Abnormal dental enamel morphology, Malar flattening, Cutaneous photosen... ORPHA:2180
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cellulitis, Erythema, Interstitial pneumonitis, Enterocolitis, Ulcerative colitis OMIM:614878
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Apnea, Pallor ORPHA:439218
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Narrow palate, Retrognathia, Long philtrum, Hearing impairment, Micrognathia, Narrow mouth, Wide ... OMIM:620250
Mandibulofacial Dysostosis, Guion-Almeida Type
Low-set ears, Preauricular skin tag, Slender finger, Conductive hearing impairment, Atresia of th... OMIM:610536
Pituitary Adenoma 4, Acth-Secreting
Poor wound healing, Bruising susceptibility, Striae distensae, Ecchymosis, Facial erythema, Osteo... OMIM:219090
Hypohidrotic Ectodermal Dysplasia
Abnormality of the dentition, Hypoplasia of the maxilla, Eczematoid dermatitis, Tooth agenesis, A... ORPHA:238468
Malakoplakia
Inflammatory abnormality of the skin, Skin ulcer, Urinary bladder inflammation, Skin rash, Orchit... ORPHA:556
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Qazi-Markouizos Syndrome
High, narrow palate, Open mouth, Broad philtrum, Hypoplasia of teeth, Delayed ossification of car... ORPHA:3010
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Foot acroosteolysis, Painless fractures due to injury, Autoamputation of digits, Acral ulceration... OMIM:201300
Craniofaciofrontodigital Syndrome
Osteopenia, Long philtrum, Premature skin wrinkling, Respiratory distress, Gingival overgrowth, P... ORPHA:363705
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia OMIM:619773
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Micrognathia OMIM:300580
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Cellulitis, Erythema, Uveitis, Erysipelas, Bruising susceptibility, Fasciitis, Skin rash, Orchiti... ORPHA:32960
Giant Cell Arteritis
Conductive hearing impairment, Skin ulcer, Hearing impairment, Joint stiffness, Arthritis, Glossi... ORPHA:397
Oculocerebrofacial Syndrome, Kaufman Type
High, narrow palate, Preauricular skin tag, Retrognathia, Abnormal lip morphology, Respiratory di... ORPHA:2707
Ichthyosis, Congenital, Autosomal Recessive 1
Congenital ichthyosiform erythroderma, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Ev... OMIM:242300
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Complex Regional Pain Syndrome
Erythema, Dry skin, Edema of the upper limbs ORPHA:83452
Codas Syndrome
Crumpled ear, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental morph... ORPHA:1458
Behcet Syndrome
Erythema, Oral ulcer, Iridocyclitis, Erythema nodosum, Arthritis, Epididymitis, Iritis OMIM:109650
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Multiple joint contractures, Joint hypermobility, Follicular hyperkeratosis, High palate ORPHA:486815
Plague
Localized skin lesion, Inflammation of the large intestine, Lymphadenitis, Skin ulcer, Chapped li... ORPHA:707
Usher Syndrome Type 1
Abnormal dental enamel morphology, Abnormal cochlea morphology, Sensorineural hearing impairment ORPHA:231169
Hereditary Spherocytosis
Skin ulcer, Pallor, Gout, Jaundice, Maculopapular exanthema ORPHA:822
Temtamy Syndrome
Low-set ears, Dental crowding, Long philtrum, Micrognathia, Talipes equinovarus, Brachydactyly, S... OMIM:218340
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Dry skin, Ichthyosis, Aspiration, Hyperkeratosis OMIM:610768
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Acne inversa, Chronic furunculosis, Perifolliculitis, Follicular hyperkeratosis, Recurrent cutane... OMIM:613736
Cushing Disease
Acne, Poor wound healing, Skin ulcer, Bruising susceptibility, Striae distensae, Dorsocervical fa... ORPHA:96253
Aicardi-Goutieres Syndrome 1
Erythema, Chilblains, Petechiae, Prolonged neonatal jaundice, Acrocyanosis, Purpura OMIM:225750
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Abnormality of primary teeth, Tented upper lip vermilion, Thin upper lip ve... ORPHA:438216
Proteasome-Associated Autoinflammatory Syndrome 1
Erythema, Finger swelling, Premature graying of hair, Recurrent otitis media, Flexion contracture... OMIM:256040
Mucopolysaccharidosis Type 4
Abnormality of the dentition, Carious teeth, Hearing impairment, Abnormal dental enamel morpholog... ORPHA:582
Cerebellofaciodental Syndrome
Low-set ears, Macrodontia of permanent maxillary central incisor, Preauricular skin tag, Dental m... OMIM:616202
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture OMIM:617977
Leprosy
Uveitis, Abnormal facial skeleton morphology, Penetrating foot ulcers, Hypopigmented macule, Urti... ORPHA:548
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomat... ORPHA:1798
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Low-set ears, Retrognathia, Hypoplasia of the zygomatic bone, Sandal gap, Abnormal dental enamel ... ORPHA:1812
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Low-set ears, Recurrent otitis media, Dry skin, Underdeveloped tragus, Micrognathia, Open mouth, ... OMIM:620654
Celiac Disease, Susceptibility To, 1
Rickets, Eczematoid dermatitis, Recurrent aphthous stomatitis, Enamel hypoplasia, Osteoporosis, S... OMIM:212750
Proteasome-Associated Autoinflammatory Syndrome 4
Erythema, Generalized lipodystrophy, Myositis, Flexion contracture, Panniculitis OMIM:619183
Catastrophic Antiphospholipid Syndrome
Myocarditis, Cutis marmorata, Skin ulcer, Arthritis ORPHA:464343
Osteogenesis Imperfecta, Type X
Dentinogenesis imperfecta, Rhizomelia, Recurrent pneumonia, Osteopenia, Micromelia, Respiratory d... OMIM:613848
Diaphanospondylodysostosis
Respiratory distress, Abnormal vertebral segmentation and fusion, Cleft palate, Absent or minimal... ORPHA:66637
Granulomatosis With Polyangiitis
Keratitis, Skin ulcer, Episcleritis, Oral ulcer, Sinusitis, Conjunctivitis, Chronic otitis media,... OMIM:608710
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Velopharyngeal insufficiency, Long philtrum, Stapes ankylosis, Cutis marmorata, Sub... OMIM:614701
Bethlem Muscular Dystrophy
Ankle flexion contracture, Cigarette-paper scars, Interphalangeal joint contracture of finger, Ca... ORPHA:610
Rubinstein-Taybi Syndrome 1
Low-set ears, Broad thumb, Hearing impairment, Micrognathia, Narrow mouth, Talipes equinovarus, H... OMIM:180849
Trichothiodystrophy 1, Photosensitive
Retrognathia, Dry skin, Absence of subcutaneous fat, Cutaneous photosensitivity, Triangular mouth... OMIM:601675
Arterial Tortuosity Syndrome
Esophagitis, Arachnodactyly, Macrotia, Avascular necrosis of the capital femoral epiphysis, Media... ORPHA:3342
Codas Syndrome
Crumpled ear, Conductive hearing impairment, Delayed eruption of teeth, Genu valgum, Short humeru... OMIM:600373
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Erythema, Scleritis, Hyperkeratosis, Macrotia, Eczematoid dermatitis, Oligodactyly, Inguinal hern... ORPHA:2273
Hidrotic Ectodermal Dysplasia, Halal Type
Retrognathia, Hearing impairment, Protruding ear, Follicular hyperkeratosis, Multiple cafe-au-lai... ORPHA:1809
Hypoglossia With Situs Inversus
Low-set ears, Microglossia, Respiratory distress, Micrognathia, Narrow mouth, Hypodontia, High pa... OMIM:612776
Gaucher Disease Type 2
Respiratory distress, Flexion contracture, Abnormal pattern of respiration ORPHA:77260
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Low-set ears, Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Apnea, Micrognathi... ORPHA:314655
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Wrist hypermobility, Inguinal hernia, Sensorineural hearing impairment, Joi... ORPHA:544503
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Agnathia-Otocephaly Complex
Low-set ears, Microglossia, Conductive hearing impairment, Tracheomalacia, Respiratory distress, ... OMIM:202650
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Hyperkeratosis, Hypermelanotic macule, Cafe-au-l... OMIM:145250
Congenital Disorder Of Glycosylation, Type Iu
Congenital contracture, Respiratory distress, Micrognathia, Thin upper lip vermilion, High palate OMIM:615042
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Parakeratosis, Palmopl... OMIM:300918
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Dermatographic urticaria, Follicular hyperkeratosis, Erythroderma, Generalized... OMIM:608649
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, High palate, Syndactyly, Accessory oral frenulum, Hypop... OMIM:252100
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Downturned corners of mouth, Clinodactyly, Tracheomalacia, Respiratory distress, Micrognathia, Re... OMIM:217980
Osteoglophonic Dysplasia
Low-set ears, Broad thumb, Bowing of the long bones, Broad phalanx, High palate, Short foot, Shor... OMIM:166250
Granulomatosis With Polyangiitis
Skin ulcer, Otitis media, Skin rash, Sensorineural hearing impairment, Increased inflammatory res... ORPHA:900
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Hearing impairment, Micrognathia, Bowing of limbs due to multiple frac... OMIM:259420
Stevens-Johnson Syndrome
Erythema, Pancreatitis, Macule, Dyspnea, Conjunctivitis, Acantholysis ORPHA:36426
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bifid uvula, Abnormality of the dentition, Prominent antihelix, Enamel hypoplasia, Wide mouth, Ma... OMIM:615802
Lacrimoauriculodentodigital Syndrome
Low-set ears, Carious teeth, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Senso... ORPHA:2363
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Low-set ears, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Micro... ORPHA:163966
Arthrogryposis, Distal, Type 12
Low-set ears, Ankle flexion contracture, Absent distal interphalangeal creases, Dental crowding, ... OMIM:620545
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Aplasia/Hypoplasia of the earlobes, Elbow dislocation, Abnormal dental enamel morphology, Macrodo... ORPHA:2916
Hidrotic Ectodermal Dysplasia
Hyperkeratotic papule, Thickened skin, Palmoplantar keratoderma, Hearing impairment, Cobblestone-... ORPHA:189
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormality of the dentition, Hearing impairment, Camptodactyly of finger, Abnormal dental enamel... ORPHA:3220
Moynahan Syndrome
Hyperkeratosis, Sensorineural hearing impairment ORPHA:2574
Cranioectodermal Dysplasia 4
Short distal phalanx of finger, Broad distal phalanx of finger, Recurrent pneumonia, Broad phalan... OMIM:614378
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Cellulitis, Thickened skin, Skin ulcer, Long philtrum, Erysipelas, Dry skin, Protruding ear, Scal... ORPHA:2526
48,Xxxy Syndrome
Carious teeth, Delayed eruption of teeth, Elbow dislocation, Open bite, Abnormal dental enamel mo... ORPHA:96263
Kikuchi-Fujimoto Disease
Erythema, Skin erosion, Skin nodule, Malar rash, Enlargement of parotid gland, Skin rash, Oral ul... ORPHA:50918
Squamous Cell Carcinoma Of The Anal Canal
Skin ulcer ORPHA:424019
Ullrich Congenital Muscular Dystrophy 1A
Nocturnal hypoventilation, Increased laxity of fingers, Wrist hypermobility, Joint hypermobility,... OMIM:254090
Primary Sjögren Syndrome
Arteritis, Skin ulcer, Parotitis, Chronic active hepatitis, Dry skin, Cutis marmorata, Lichenoid ... ORPHA:289390
Baller-Gerold Syndrome
Low-set ears, Erythema, Lambdoidal craniosynostosis, Carpal synostosis, Dermal atrophy, Micrognat... OMIM:218600
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Tinnitus, Dentinogenesis imperfecta, High-frequency hearing impairment, Bilateral sensorineural h... OMIM:605594
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Dentinogenesis imperfecta, Osteopenia, Periodontitis, Retrognathia, Short toe, Pruritus, Sensorin... OMIM:619269
Irida Syndrome
Ichthyosis, Pallor, Hyperkeratosis ORPHA:209981
Restrictive Dermopathy 2
Hypoplastic facial bones, Thickened skin, Microretrognathia, Respiratory distress, Cyanosis, Scle... OMIM:619793
Neuropathy, Hereditary Sensory And Autonomic, Type V
Painless fractures due to injury, Osteomyelitis, Acral ulceration, Osteoarthritis, Septic arthrit... OMIM:608654
Pfeiffer Syndrome Type 2
Low-set ears, Deviation of the thumb, Small hand, Toe syndactyly, Broad thumb, Atresia of the ext... ORPHA:93259
Neonatal Inflammatory Skin And Bowel Disease
Erythema, Blepharitis, Chapped lip, Generalized abnormality of skin, Psoriasiform dermatitis, Pus... ORPHA:294023
Meier-Gorlin Syndrome 1
Low-set ears, Joint contracture of the hand, Small hand, Hearing impairment, Atresia of the exter... OMIM:224690
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Rhizomelia, Hearing impairment, Respiratory distress, Skin tags, Recurrent otitis media, Femoral ... OMIM:616482
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Penetrating foot ulce... ORPHA:99956
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Rickets, Osteomalacia, Trapezoidal distal femoral condyles, Genu va... OMIM:307800
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Long philtrum, Thin upper lip vermilion OMIM:614741
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Abnormal oral mucosa morphology, Hypoplasia of the maxilla, Conical tooth, Everted upper lip verm... OMIM:305100
Dental Anomalies And Short Stature
Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta... OMIM:601216
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Carious teeth, Recurrent pneumonia, Hearing impairment, Widely spaced teet... OMIM:253000
Trichothiodystrophy 2, Photosensitive
Congenital nonbullous ichthyosiform erythroderma, Agenesis of maxillary lateral incisor, Cutaneou... OMIM:616390
Trichothiodystrophy 7, Nonphotosensitive
Congenital nonbullous ichthyosiform erythroderma, Cutaneous photosensitivity, Follicular hyperker... OMIM:618546
Lissencephaly Syndrome, Norman-Roberts Type
Low-set ears, Microretrognathia, Respiratory distress, Adducted thumb, Rocker bottom foot ORPHA:89844
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Chronic otitis media OMIM:619466
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Parakeratosis, Subcutaneous nodule, Hyperkeratosis OMIM:618339
W Syndrome
Upper lip pit, Broad uvula, Radial bowing, Elbow dislocation, Clinodactyly, Submucous cleft hard ... ORPHA:2804
Developmental And Epileptic Encephalopathy 100
Small hand, Elbow flexion contracture, Micrognathia, Gingival overgrowth, Protruding tongue, Tent... OMIM:619777
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Atypical scarring of skin, Inflammatory abnormality of the skin, Keratitis, Skin ulcer... ORPHA:95455
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperostosis, Taurodontia, Pulp calcification, Enamel hypoplasia, Subperiosteal bone formation OMIM:211900
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic mucocutaneous candidiasis, Tympanosclerosis, Keratoconjunctivitis, Ir... OMIM:240300
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Carious teeth, Hearing impairment, Widely spaced teeth, Hypoplasia of the ... OMIM:253010
Cardiofaciocutaneous Syndrome 1
Low-set ears, Hearing impairment, Open bite, Micrognathia, Open mouth, High palate, Hyperkeratosi... OMIM:115150
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hearing impairment, Tinnitus, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Thic... ORPHA:79280
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Dry skin, Ichthyosis, Sensorineural hearing impairment, Parakeratosis, Acanthosis nigricans, Hype... OMIM:618527
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Hypophosphatemic Rickets, Autosomal Recessive, 2
Carious teeth, Genu valgum, Hypophosphatemic rickets, Hypoplasia of teeth, Genu varum, Coxa valga OMIM:613312
Diaphanospondylodysostosis
Low-set ears, Tracheomalacia, Delayed vertebral ossification, Respiratory distress, Micrognathia,... OMIM:608022
Riddle Syndrome
Pneumonia, Erythema, Recurrent pneumonia, Otitis media, Chronic sinusitis, Recurrent sinusitis, T... ORPHA:420741
49,Xxxxy Syndrome
Carious teeth, Delayed eruption of teeth, Elbow dislocation, Open bite, Abnormal dental enamel mo... ORPHA:96264
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Cleft lip, Palmoplantar keratoderma, Ichthyosis, Notched primary central incisor, Pruritus OMIM:620519
Erythrokeratodermia Variabilis Et Progressiva 1
Patchy palmoplantar hyperkeratosis, Erythroderma, Hypergranulosis, Generalized hyperkeratosis OMIM:133200
X-Linked Hypophosphatemia
Cellulitis, Limitation of joint mobility, Genu valgum, Sensorineural hearing impairment, Bowing o... ORPHA:89936
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Respiratory distress, Arachnodactyly, Multiple prenatal fractures, High palate, Rocke... OMIM:271225
Microphthalmia With Linear Skin Defects Syndrome
Erythema, Retrognathia, Hypopigmented skin patches, Hearing impairment, Respiratory distress, Abn... ORPHA:2556
Hall-Riggs Syndrome
Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morphology, Joint ... ORPHA:2107
Stüve-Wiedemann Syndrome
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Talipes equinovarus, Flexion... ORPHA:3206
Focal Dermal Hypoplasia
Low-set ears, Toe syndactyly, Focal dermal aplasia/hypoplasia, Dermal atrophy, Congenital diaphra... OMIM:305600
Pili Torti
Abnormal dental enamel morphology, Abnormality of the dentition, Hearing impairment ORPHA:2889
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in fle... OMIM:601952
Donohue Syndrome
Low-set ears, Thick lower lip vermilion, Gingival overgrowth, Adipose tissue loss, Acanthosis nig... OMIM:246200
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Dental malocclusion, Contractures of the large joints, Respiratory distress, Microgna... ORPHA:329178
Cole-Carpenter Syndrome 1
Dentinogenesis imperfecta, Osteopenia, Coronal craniosynostosis, Orbital craniosynostosis, Microg... OMIM:112240
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Poor wound healing, Autoamputation of digits, Corneal scarring, Osteomyelitis, Acral u... OMIM:256800
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Unusual skin infection, Skin ulcer, Stiff neck, Infectious encephalitis, Pustule, Sinu... ORPHA:68
Woolly Hair-Skin Fragility Syndrome
Acantholysis, Palmoplantar keratoderma, Fragile skin OMIM:620415
Arboleda-Tham Syndrome
Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr... OMIM:616268
Ctcf-Related Neurodevelopmental Disorder
Narrow mouth, Joint contracture of the 5th finger, Osteopenia, Prominent fingertip pads, Low-set,... ORPHA:363611
Seckel Syndrome
Sandal gap, Abnormal earlobe morphology, Tooth agenesis, Abnormal dental enamel morphology, Micro... ORPHA:808
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth OMIM:615887
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Respiratory distress, Elb... ORPHA:1145
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Bifid uvula, Respiratory distress, Micrognathia, Congenital diaphragmatic hernia, Sensorineural h... OMIM:606164
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta, Osteopenia, Hearing impairment, Increased susceptibility to fractures,... OMIM:610968
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Recurrent pneumonia, Severe sensorineural hearing impairment, Infantile sen... ORPHA:254875
Ectodermal Dysplasia-Skin Fragility Syndrome
Abnormality of the dentition, Recurrent pneumonia, Carious teeth, Palmoplantar keratoderma, Chapp... ORPHA:158668
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Angioedema, Swelling of proximal interphalangeal joints, Cu... ORPHA:3260
Spondyloepiphyseal Dysplasia Congenita
Bifid uvula, Hearing impairment, Respiratory distress, Limited hip movement, Delayed pubic bone o... OMIM:183900
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Erythema, Recurrent pneumonia, Osteopenia, Eczematoid dermatitis, Cutaneous abscess, Chronic muco... OMIM:147060
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Aplasia of the distal phalanx of the 5th finger, Microglossia, Aplasia of ... ORPHA:364577
Sanjad-Sakati Syndrome
Abnormality of the dentition, Small hand, Patchy osteosclerosis, Long philtrum, Abnormal dental e... ORPHA:2323
Osteogenesis Imperfecta, Type Vi
Dentinogenesis imperfecta, Hearing impairment, Bowing of the arm, Increased susceptibility to fra... OMIM:613982
Noonan Syndrome 8
Low-set ears, Palmoplantar cutis laxa, Hyperkeratosis, Eczematoid dermatitis OMIM:615355
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Palmoplantar keratoderma, Delayed eruption of teeth, Conductive hearing impairment... ORPHA:1071
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Low-set ears, Micromelia, Long philtrum, Respiratory distress, Postaxial polydactyly, Brachydacty... OMIM:617895
Coccidioidomycosis
Indurated nodule, Hearing impairment, Urticarial plaque, Morbilliform rash, Abnormal metacarpal m... ORPHA:228123
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Hearing impairment, Thick vermili... OMIM:620114
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Treacher-Collins Syndrome
Open bite, Micrognathia, Narrow mouth, High palate, Hypoplasia of the maxilla, Multiple enchondro... ORPHA:861
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Parkes Weber Syndrome
Abnormal femoral metaphysis morphology, Skin ulcer, Capillary malformation, Erythematous plaque, ... ORPHA:90307
3M Syndrome
Delayed eruption of teeth, Long philtrum, Micromelia, Abnormal dental enamel morphology, Joint hy... ORPHA:2616
Neonatal Lupus Erythematosus
Malar rash, Erythematous plaque, Skin rash, Cutaneous photosensitivity, Parakeratosis, Maculopapu... ORPHA:398124
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Sensorineural hearing impairment OMIM:616974
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, M... ORPHA:50814
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Telangiectasia, Telangiectasia of the skin, Hyperkeratosis, Hearing impairment ORPHA:79279
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Coronal craniosynostosis, Hearing impairment, Porokeratosis, Eczematoid dermatitis, Abnormal dent... ORPHA:85199
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Macroglossia, High palate ORPHA:254864
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Hearing impairment OMIM:616733
Cockayne Syndrome B
Atypical scarring of skin, Carious teeth, Dental malocclusion, Abnormal auditory evoked potential... OMIM:133540
Hypotrichosis With Juvenile Macular Degeneration
Abnormal limb bone morphology, Melanocytic nevus, Hyperkeratosis ORPHA:1573
Cardiofaciocutaneous Syndrome 3
Reduced bone mineral density, Wide mouth, Hyperkeratosis OMIM:615279
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time, Otosclerosis... OMIM:166220
Amelocerebrohypohidrotic Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta, Yellow-b... ORPHA:1946
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Bilateral sensorineural hearing impairment, Erythema, Skin rash OMIM:618321
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Follicular hyperkeratosis OMIM:615147
Campomelic Dysplasia
Low-set ears, Delayed epiphyseal ossification, Carious teeth, Hearing impairment, Shortening of a... OMIM:114290
Tetanus
Localized skin lesion, Respiratory distress, Stiff neck, Tachypnea, Trismus ORPHA:3299
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Low-set ears, Long philtrum, Respiratory distress, Overlapping toe, Overlapping fingers, Tented u... OMIM:619383
Robin Sequence With Cleft Mandible And Limb Anomalies
Low-set ears, Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short... OMIM:268305
Succinic Acidemia
Respiratory distress OMIM:600335
Ear-Patella-Short Stature Syndrome
Low-set ears, Hearing impairment, Atresia of the external auditory canal, Elbow dislocation, Micr... ORPHA:2554
X-Linked Centronuclear Myopathy
Respiratory distress, High palate, Pneumonia ORPHA:596
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Low-set ears, Bifid uvula, Abnormality of the dentition, Small hand, Hearing impairment, Long phi... OMIM:300968
Simple Cryoglobulinemia
Localized skin lesion, Nephritis, Cold urticaria, Viral hepatitis, Vascular skin abnormality, Acr... ORPHA:91139
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urinary bladder inflammation, Oral mucosal blisters, Enamel hypoplasia, Aplasia cutis congenita, ... ORPHA:79403
Lymphatic Malformation 4
Cellulitis, Hyperkeratosis, Prominent superficial veins OMIM:615907
Pfeiffer Syndrome Type 3
Low-set ears, Small hand, Toe syndactyly, Broad thumb, Hearing impairment, Finger syndactyly, Lim... ORPHA:93260
Palmoplantar Carcinoma, Multiple Self-Healing
Palmoplantar keratoderma, Long philtrum, Chronic rhinitis, Parakeratosis, Ectodermal dysplasia, F... OMIM:615225
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Keratitis, Oral leukoplakia, Elbow flexion contracture, Furrowed tongue, Corneal scarring, Ichthy... OMIM:148210
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Psoriasiform dermatitis, Interface hepatitis, Enterocolitis, Enamel hypoplasia, Omphalocele OMIM:243150
Usher Syndrome Type 2
Carious teeth, Abnormal dental enamel morphology, Sensorineural hearing impairment, Microdontia, ... ORPHA:231178
Familial Nasal Acilia
Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea, Bronchiectasis ORPHA:922
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Abnormality of the dentition, Short distal phalanx of finger, Sy... ORPHA:289
Cerebellar-Facial-Dental Syndrome
Low-set ears, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Foot joint... ORPHA:444072
Cardiofaciocutaneous Syndrome
Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, Long philtrum, Multiple lentigines, D... ORPHA:1340
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Nevus, Micrognathia, Posteriorly rotated ears, Lipoma, Multiple enchondromatosis, Hyperkeratosis,... OMIM:620189
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Palmoplantar keratoderma, Palmoplantar blistering, Hypergranulosis, Orthokeratotic hyperkeratosis... OMIM:148700
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Pallor, Intermittent hyperventilation, Apneic episodes ... ORPHA:348
Sunct Syndrome
Facial erythema, Flushing ORPHA:57145
Cockayne Syndrome
Carious teeth, Congenital contracture, Dental malocclusion, Contractures of the large joints, Pre... ORPHA:191
Achondroplasia
Rhizomelia, Conductive hearing impairment, Radial bowing, Flared metaphysis, Respiratory distress... OMIM:100800
Heimler Syndrome 2
Amelogenesis imperfecta, Dental crowding, Sensorineural hearing impairment OMIM:616617
Osteogenesis Imperfecta
Carious teeth, Hearing impairment, Abnormal tibia morphology, Micrognathia, Genu valgum, Decrease... ORPHA:666
Netherton Syndrome
Allergic rhinitis, Eczematoid dermatitis, Angioedema, Chronic rhinitis, Parakeratosis, Erythroder... OMIM:256500
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Sensorineural hearing impairment ORPHA:79097
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Dentinogenesis imperfecta, Osteopenia, Microretrognathia, Coronal cr... OMIM:616294
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Hand clenching ORPHA:240103
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth OMIM:615905
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Underdeveloped superior crus of antihelix, Bifid uvula, Broad thumb, Broad hallux, Congenital sen... ORPHA:293967
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Hearing impairment, Widely spaced teeth, Recurrent otitis media, Microdontia, Abnormal palmar der... ORPHA:2728
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Low-set ears, Rhizomelia, Metaphyseal cupping, Radial bowing, Severe limb shortening, Micromelia,... OMIM:151210
Malaria
Respiratory distress ORPHA:673
Doors Syndrome
Low-set ears, Atresia of the external auditory canal, Aspiration pneumonia, Short lingual frenulu... ORPHA:79500
Familial Mediterranean Fever
Erythema, Erysipelas, Oral leukoplakia, Skin rash, Orchitis, Peritonitis, Pancreatitis, Arthritis... ORPHA:342
Jalili Syndrome
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta ORPHA:1873
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hypoplasia of the maxilla, Hearing impairment, Micrognathia, Enterocolitis, Hyperkeratosis OMIM:301108
Hermansky-Pudlak Syndrome
Thickened skin, Bruising susceptibility, Abnormal dental enamel morphology, Melanocytic nevus, Dy... ORPHA:79430
Choanal Atresia
Tracheomalacia, Respiratory distress, Cyanosis, Chronic sinusitis, Polydactyly, Craniosynostosis ORPHA:137914
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Cyanosis ORPHA:137935
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Low-set ears, Broad thumb, Overlapping toe, Micrognathia, Sensorineural hearing impairment, High ... OMIM:612474
Autoinflammation With Arthritis And Dyskeratosis
Dry skin, Punctate keratitis, Keratoconjunctivitis sicca, Palmoplantar hyperkeratosis, Follicular... OMIM:617388
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perianal erythema, Dry skin, Perioral erythema OMIM:201100
Chitayat Syndrome
Tracheomalacia, Respiratory distress, Hallux valgus, Brachydactyly, Thick vermilion border OMIM:617180
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Carious teeth, Hearing impairment, Delayed eruption of primary te... OMIM:149730
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Facial telangiectasia in butterfly midface distribution, Reduced subcutaneous adipose tissue, Tel... OMIM:137940
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Foot osteomyelitis, Acral ulceration OMIM:256840
Adnp Syndrome
Low-set ears, Broad thumb, Abnormal finger morphology, Aspiration, Inguinal hernia, Polydactyly, ... ORPHA:404448
Branchioskeletogenital Syndrome
Carious teeth, Hypoplasia of the maxilla, Downturned corners of mouth, Large earlobe, Upper limb ... ORPHA:1299
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Low-set ears, Carious teeth, Natal tooth, Broad thumb, Micrognathia, Sensorineural hearing impair... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Low-set ears, Carious teeth, Natal tooth, Broad thumb, Micrognathia, Sensorineural hearing impair... ORPHA:353277
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Recurrent pneumonia, Short tibia, Sandal gap, Respiratory distress, Short humerus, Se... OMIM:607143
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Retrognathia, Sudden episodic apnea ORPHA:466722
Peters-Plus Syndrome
Low-set ears, Hearing impairment, Micrognathia, Short lingual frenulum, Limited elbow movement, S... OMIM:261540
Prader-Willi Syndrome Due To Translocation
Small hand, Carious teeth, Clinodactyly, Overlapping toe, Micrognathia, Everted lower lip vermili... ORPHA:177907
Trichodental Dysplasia
Hypodontia, Conical tooth, Odontodysplasia OMIM:601453
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, Low-set ears, Small hand, Cupped ear, Prominent fingertip pads, Long philtru... OMIM:612863
Elsahy-Waters Syndrome
Low-set ears, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, H... OMIM:211380
Osteogenesis Imperfecta, Type Viii
Dentinogenesis imperfecta, Osteopenia, Radial bowing, Femoral bowing, Recurrent fractures, Inguin... OMIM:610915
Sialidosis Type 1
Vascular skin abnormality, Thick lower lip vermilion, Sensorineural hearing impairment, Hernia, H... ORPHA:812
Kawasaki Disease
Strawberry tongue, Hepatitis, Lip fissure, Skin rash, Cholecystitis, Palmar edema, Palmoplantar e... ORPHA:2331
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation ORPHA:91359
Brown-Vialetto-Van Laere Syndrome 1
Hearing impairment, Respiratory distress, Nocturnal hypoventilation, Hand muscle atrophy, Sensori... OMIM:211530
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration, Knee flexion contracture, Sensorineural hearing impairment, Sim... OMIM:618733
Synaptic Congenital Myasthenic Syndromes
Hand muscle weakness, Respiratory distress, Hypoventilation, Triangular mouth, Talipes equinovaru... ORPHA:98915
Congenital Myopathy 22B, Severe Fetal
Low-set ears, Tapered toe, Dental crowding, Retrognathia, Shoulder flexion contracture, Respirato... OMIM:620369
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Subungual hyperkeratosis, Keratitis, Hearing impairment, Ectrodactyly, U... OMIM:308205
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
High, narrow palate, Dental crowding, Downturned corners of mouth, Clinodactyly, Micrognathia, Na... ORPHA:96182
Slc35A1-Cdg
Respiratory distress, Pneumonia, Cellulitis, Subcutaneous hemorrhage ORPHA:238459
Orofacial Cleft 15
Low-set ears, Palate fistula, Inguinal hernia, Single transverse palmar crease, Bilateral cleft p... OMIM:616788
Mednik Syndrome
Erythema, Ichthyosis, Sensorineural hearing impairment OMIM:609313
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Recurrent pneumonia, Dental crowding, Poor wound healing, Bruising susceptibility, Mo... OMIM:225400
Tempi Syndrome
Telangiectasia, Facial erythema ORPHA:284227
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Low-set ears, Coronal craniosynostosis, Retrognathia, Eczematoid dermatitis, Respiratory distress... ORPHA:83617
Turnpenny-Fry Syndrome
Low-set ears, Small hand, Clinodactyly, Overlapping toe, Narrow mouth, High palate, Downturned co... OMIM:618371
Bronchopulmonary Dysplasia
Respiratory distress, Tracheobronchomalacia, Dyspnea, Central apnea ORPHA:70589
Ciliary Dyskinesia, Primary, 2
Hearing impairment, Respiratory distress, Otitis media, Sinusitis, Bronchiectasis OMIM:606763
Proteus Syndrome
Low-set ears, Thickened skin, Carious teeth, Finger syndactyly, Verrucous epidermal nevus, Capill... ORPHA:744
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Keloids, Finger swelling, Wrist swelling, Rickets, Camptodactyly o... OMIM:309000
Kanzaki Disease
Thick lower lip vermilion, Dry skin, Petechiae, Sensorineural hearing impairment, Telangiectasia ... OMIM:609242
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Broad distal phalanx of finger, Keloids, Carious teeth, Dental crowding, Natal tooth, ... ORPHA:353281
Kilquist Syndrome
Low-set ears, Wide mouth, 2-3 toe syndactyly, Bilateral sensorineural hearing impairment, Hypopla... OMIM:619080
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Osteopenia, Conductive hearing impairment, Bruising susceptibility, High-frequency sensorineural ... OMIM:614557
Autoinflammatory Disease, Systemic, With Vasculitis
Atopic dermatitis, Erythema, Parotitis, Oral ulcer, Colitis, Jaundice, Arthritis, Conjunctivitis,... OMIM:620376
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Painless fractures due to injury, Respiratory distress, Autoamputation of digits, Corneal scarrin... OMIM:256810
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Triceps weakness ORPHA:86812
Kyphoscoliotic Ehlers-Danlos Syndrome
Low-set ears, Poor wound healing, Hearing impairment, Micrognathia, Sensorineural hearing impairm... ORPHA:536545
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Respiratory distress, Low-set, posteriorly rotated ears, Narrow internal auditory c... ORPHA:990
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Cushing Syndrome Due To Ectopic Acth Secretion
Acne, Poor wound healing, Skin ulcer, Bruising susceptibility, Striae distensae, Dorsocervical fa... ORPHA:99889
Esophageal Atresia
Cleft lip, Hearing impairment, Clinodactyly, Respiratory distress, Esophagitis, Pallor, Cyanosis,... ORPHA:1199
Diamond-Blackfan Anemia 10
Low-set ears, Morgagni diaphragmatic hernia, Conductive hearing impairment, Hearing impairment, A... OMIM:613309
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Pleural Mesothelioma
Respiratory distress, Dyspnea ORPHA:50251
Craniolenticulosutural Dysplasia
Bifid uvula, Osteopenia, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, Mal... OMIM:607812
Holocarboxylase Synthetase Deficiency
Perioral eczema, Eczematoid dermatitis, Respiratory distress, Keratoconjunctivitis, Tachypnea ORPHA:79242
Farber Disease
Short toe, Short finger, Respiratory distress, Abnormality of the wrist, Periarticular subcutaneo... ORPHA:333
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Cockayne Syndrome Type 3
Carious teeth, Conductive hearing impairment, Premature graying of hair, Keratoconjunctivitis sic... ORPHA:90324
Cole-Carpenter Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Joint hypermobility, ... ORPHA:2050
Osteogenesis Imperfecta, Type Xvii
Dentinogenesis imperfecta, Thin metacarpal cortices, Joint hypermobility, Bowed humerus, Osteopor... OMIM:616507
Leukocyte Adhesion Deficiency
Pneumonia, Abnormality of the dentition, Coronal craniosynostosis, Vaginitis, Osteomyelitis, Recu... ORPHA:2968
Rodrigues Blindness
Protruding ear, Tooth malposition, Nasal flaring, Ectodermal dysplasia OMIM:268320
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Cyanosis OMIM:263000
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Low-set ears, Eczematoid dermatitis, Multiple lentigines, Inguinal hernia, Ichthyosis, Joint hype... OMIM:607721
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Enamel hypomineralization, Progressive sensorineural hearing impairment ORPHA:494444
Laryngomalacia
Respiratory distress OMIM:150280
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Slender finger, Jaundice OMIM:250940
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea, Dyspnea OMIM:267450
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis, Respiratory di... ORPHA:37042
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Tracheomalacia, Respiratory distress, Tachypnea, Dyspnea ORPHA:60032
Mgat2-Cdg
Osteopenia, Dental crowding, Prominent antihelix, Abnormal earlobe morphology, Respiratory distre... ORPHA:79329
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress, Proximal muscle weakness in upper limbs, Upper limb amyotrophy OMIM:620375
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis, Oral leukoplakia OMIM:148500
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Corneal scarring, Cutis marmorata, Clubbing, Colitis, Hyperkeratosis, Bronch... OMIM:301220
Angioedema, Hereditary, 1
Erythema, Angioedema OMIM:106100
Mucopolysaccharidosis-Plus Syndrome
Thickened skin, Nephritis, Recurrent pneumonia, Respiratory distress, Metaphyseal widening, Thick... OMIM:617303
Hereditary Elliptocytosis
Prolonged neonatal jaundice, Jaundice, Skin ulcer ORPHA:288
Mogs-Cdg
Retrognathia, Respiratory distress, Overlapping fingers, Apnea, Hypoventilation, Sensorineural he... ORPHA:79330
Congenital Myasthenic Syndrome
Low-set ears, Microretrognathia, Narrow jaw, Cyanosis, Episodic respiratory distress, Sensorineur... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Low-set ears, Microretrognathia, Narrow jaw, Cyanosis, Episodic respiratory distress, Sensorineur... ORPHA:98914
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
Noonan Syndrome 2
Low-set ears, Arthrogryposis multiplex congenita, Nevus, Long philtrum, Prominent fingertip pads,... OMIM:605275
Jalili Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis OMIM:217080
Isolated Cleft Lip
Conductive hearing impairment, Velopharyngeal insufficiency, Umbilical hernia, Supernumerary maxi... ORPHA:199302
Q Fever
Pneumonia, Hepatitis, Respiratory distress, Osteomyelitis, Cholecystitis, Infectious encephalitis... ORPHA:781
Listeriosis
Pneumonia, Unusual skin infection, Arteritis, Hearing impairment, Respiratory distress, Osteomyel... ORPHA:533
Ramos-Arroyo Syndrome
Carious teeth, Keratitis, Smooth tongue, Long philtrum, Respiratory distress, Narrow mouth, Shoul... ORPHA:1051
Radio-Renal Syndrome
High, narrow palate, Downturned corners of mouth, Retrognathia, Micromelia, Respiratory distress,... ORPHA:3015
Ogden Syndrome
Low-set ears, Everted upper lip vermilion, Facial wrinkling, Thick upper lip vermilion, Capillary... OMIM:300855
Fabry Disease
Hearing impairment, Thick lower lip vermilion, Abnormal femur morphology, Reduced bone mineral de... ORPHA:324
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Finger syndactyly, Cutis marmorata, Micrognathia, Congenital diaphrag... ORPHA:818
22Q11.2 Deletion Syndrome
Low-set ears, Carious teeth, Hypopigmented skin patches, Hearing impairment, Micrognathia, Narrow... ORPHA:567
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... OMIM:313500
Severe Acute Respiratory Syndrome
Respiratory distress, Dyspnea, Acute infectious pneumonia ORPHA:140896
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Pancreatitis ORPHA:289916
Acute Lung Injury
Pneumonia, Respiratory distress, Tachypnea, Dyspnea, Acute pancreatitis ORPHA:178320
Usher Syndrome
Carious teeth, Abnormal dental enamel morphology, Sensorineural hearing impairment, Microdontia, ... ORPHA:886
Nipah Virus Disease
Respiratory distress, Infectious encephalitis ORPHA:99825
Hyperparathyroidism, Transient Neonatal
Low-set ears, Osteopenia, Fractured rib, Metaphyseal spurs, Umbilical hernia, Respiratory distres... OMIM:618188
Lujo Hemorrhagic Fever
Respiratory distress, Stiff neck, Skin rash, Fulminant hepatitis, Ecchymosis, Myocarditis, Rhinit... ORPHA:319213
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Fucosidosis
Abnormality of the dentition, Hearing impairment, Vascular skin abnormality, Generalized hyperker... ORPHA:349
Naxos Disease
Subungual hyperkeratosis, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Fragile ... OMIM:601214
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Conical incisor, Ectodermal dysplasia OMIM:300291
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, High palate, Retrognathia, Joint hypermobility OMIM:300219
Ramon Syndrome
Delayed eruption of teeth, Hearing impairment, Angiokeratoma, Telangiectasia, Juvenile rheumatoid... OMIM:266270
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Pancreatitis ORPHA:79312
Tay-Sachs Disease
Pallor, Aspiration OMIM:272800
Cowden Syndrome
Macroglossia, Palmoplantar keratoderma, Hypopigmented skin patches, Hearing impairment, Generaliz... ORPHA:201
Stickler Syndrome
Hearing impairment, Open bite, Micrognathia, Genu valgum, Sensorineural hearing impairment, Arach... ORPHA:828
Pallister-Killian Syndrome
Low-set ears, Small hand, Postaxial foot polydactyly, Hearing impairment, Micrognathia, Congenita... OMIM:601803
Monilethrix
Abnormality of the dentition, Follicular hyperkeratosis ORPHA:573
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Bacterial endocarditis, Poor wound healing, Skin ulcer, Sensorineural hearing impairment, Ecchymo... ORPHA:2072
Cornelia De Lange Syndrome 6
Low-set ears, Macrodontia of permanent maxillary central incisor, Cleft lip, Short 1st metacarpal... OMIM:620568
Melas
Erythema, Recurrent pancreatitis, Sensorineural hearing impairment ORPHA:550
Hemihyperplasia-Multiple Lipomatosis Syndrome
Macrodactyly, 2-4 toe syndactyly, Nevus, Hyperparakeratosis, Multiple lipomas, Seborrheic dermati... ORPHA:276280
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis ORPHA:2414
Halperin-Birk Syndrome
Hearing impairment, Umbilical hernia, Micrognathia, Congenital diaphragmatic hernia, Inguinal her... OMIM:618651
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Dry skin, Metaphyseal dysplasia, Abnormal bone ossification, Skin plaque, Genu varum, Macrotia, M... ORPHA:99646
Alternating Hemiplegia Of Childhood
Downturned corners of mouth, Respiratory distress, Apnea, Pallor, Exaggerated cupid's bow, Aspira... ORPHA:2131
3-Methylglutaconic Aciduria, Type Viib
Brachioradialis areflexia, Rhizomelia, Recurrent pneumonia, Respiratory distress, Micrognathia, T... OMIM:616271
Biotinidase Deficiency
Hearing impairment, Eczematoid dermatitis, Respiratory distress, Apnea, Skin rash, Sensorineural ... ORPHA:79241
Oromandibular Dystonia
Respiratory distress, Abnormal lip morphology, Abnormality of the temporomandibular joint, Abnorm... ORPHA:93958
Reactive Arthritis
Inflammation of the large intestine, Osteomyelitis, Recurrent aphthous stomatitis, Joint stiffnes... ORPHA:29207
Trichothiodystrophy 4, Nonphotosensitive
Hypoplasia of teeth, Keratoconjunctivitis sicca, Retrognathia, Macrotia OMIM:234050
Avian Influenza
Pneumonia, Myelitis, Hepatitis, Respiratory distress, Infectious encephalitis, Tachypnea, Dyspnea... ORPHA:454836
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Erythema, Respiratory distress, Narrow mouth, Fragile skin, Macrotia OMIM:614748
Hereditary Mucoepithelial Dysplasia
Furrowed tongue, Gingival overgrowth, Hyperkeratosis ORPHA:1839
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:281090
Schinzel-Giedion Syndrome
Low-set ears, Abnormal helix morphology, Overlapping toe, Micrognathia, Overlapping fingers, Radi... ORPHA:798
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, High palate, Irregular respiration OMIM:604377
Isolated Atp Synthase Deficiency
Respiratory distress, Sensorineural hearing impairment ORPHA:254913
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Oral leukoplakia OMIM:167200
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hypoplasia of the maxilla, Carious teeth, Conductive hearing impairment, Toe syndactyly, Selectiv... OMIM:129900
Episodic Ataxia Type 1
Respiratory distress, Hand clenching ORPHA:37612
Sepsis In Premature Infants
Pallor, Petechiae, Cyanosis, Enterocolitis, Dyspnea, Jaundice, Nasal flaring, Purpura ORPHA:90051
Immunodeficiency 9
Recurrent aphthous stomatitis, Amelogenesis imperfecta, Ectodermal dysplasia, Stomatitis OMIM:612782
Tetrasomy 9P
Small hand, Abnormal earlobe morphology, Micrognathia, Glue ear, Bilateral single transverse palm... ORPHA:3310
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Dyspnea, Bronchiectasis ORPHA:411703
Nocardiosis
Cellulitis, Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Respiratory distress, Osteomy... ORPHA:31204
Opitz Gbbb Syndrome
Low-set ears, Unilateral cleft lip, Cleft upper lip, Umbilical hernia, Inguinal hernia, Aspiratio... OMIM:300000
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Tachypnea, Acute infectious pneumonia ORPHA:264675
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Restrictive Dermopathy 1
Low-set ears, Skin erosion, Natal tooth, Epidermal hyperkeratosis, Temporomandibular joint ankylo... OMIM:275210
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Redundant neck skin, Postaxial hand polydactyly ORPHA:2519
Restrictive Dermopathy
Low-set ears, Osteopenia, Skin erosion, Natal tooth, Camptodactyly of finger, Temporomandibular j... ORPHA:1662
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Cyanosis ORPHA:464453
Staphylococcal Necrotizing Pneumonia
Pneumonia, Respiratory distress, Tachypnea, Acute infectious pneumonia, Dyspnea ORPHA:36238
Microlissencephaly-Micromelia Syndrome
Micromelia, Long philtrum, Respiratory distress, Bilateral single transverse palmar creases, Addu... ORPHA:50810
Neuroblastoma
Respiratory distress, Anemic pallor, Subcutaneous nodule, Pathologic fracture ORPHA:635
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Progressive hearing impairment OMIM:620166
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Amelogenesis imperfecta, Chronic otitis media, Hypocalcification of dental enamel ORPHA:169090
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Hypopigmented skin patches, Hearing i... ORPHA:206436
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Low-set ears, Tooth malposition, Small hand, Limitation of joint mobility, Hearing impairment, Ov... ORPHA:480880
Glucagonoma
Subcutaneous lipoma, Necrolytic migratory erythema, Skin rash, Intermittent jaundice, Glossitis, ... ORPHA:97280
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor, Punctate keratitis OMIM:557000
Noonan Syndrome 10
Low-set ears, Palmoplantar cutis laxa, Cubitus valgus, Hyperkeratosis, High palate, Cafe-au-lait ... OMIM:616564
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Chondrodysplasia Punctata, Autosomal Dominant
Hyperkeratosis with erythema, Epiphyseal stippling, Knee flexion contracture, Hip contracture, Ta... OMIM:118650
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Cyanosis, Tachypnea, Nonspecific interstitial pneumonia, Exertional ... OMIM:610921
Chand Syndrome
Short fifth metatarsal, Agenesis of permanent teeth, Dry skin, Abnormal oral frenulum morphology,... ORPHA:1401
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Bronchiectasis, Respiratory distress, Interstitial pneumonitis, Cyanosis, Ta... OMIM:610913
Holoprosencephaly 9
Preauricular skin tag, Hypoplasia of the maxilla, Hypoplasia of the premaxilla, Dental malocclusi... OMIM:610829
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Craniosynostosis, Recurrent fractures, Membranoproliferative g... ORPHA:251004
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Tachypnea OMIM:614299
Cryptogenic Organizing Pneumonia
Respiratory distress, Dyspnea, Cyanosis ORPHA:1302
Scorpion Envenomation
Acute pancreatitis, Erythema, Tachypnea, Myocarditis, Purpura ORPHA:466677
Pachyonychia Congenita 3
Palmoplantar keratoderma, Oral leukoplakia, Chapped lip, Furrowed tongue, Follicular hyperkeratos... OMIM:615726
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Low-set ears, Enlarged metaphyses, Delayed epiphyseal ossification, Elbow dislocation, Dry skin, ... OMIM:210710
Thyroid Lymphoma
Respiratory distress, Dyspnea, Hashimoto thyroiditis ORPHA:97285
8Q24.3 Microdeletion Syndrome
Naevus flammeus of the eyelid, Skin tags, Short hallux, Cleft maxillary alveolar ridge, Short 5th... ORPHA:508488
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Inflammatory abnormality of the skin, Respiratory distress, Episodic tachypnea, Tachyp... ORPHA:26793
Laryngotracheoesophageal Cleft
Dyspnea, Aspiration, Cyanosis ORPHA:2004
Koolen-De Vries Syndrome Due To A Point Mutation
Hearing impairment, Recurrent otitis media, Open mouth, Hand muscle atrophy, Arachnodactyly, Ecto... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hearing impairment, Recurrent otitis media, Open mouth, Hand muscle atrophy, Arachnodactyly, Ecto... ORPHA:363958
Hypomagnesemia 3, Renal
Rickets, Genu valgum, Hypomature enamel, Amelogenesis imperfecta, Enamel hypoplasia, Short metaca... OMIM:248250
De Sanctis-Cacchione Syndrome
Keratitis, Dermal atrophy, Sensorineural hearing impairment, Telangiectasia, Parakeratosis, Bilat... OMIM:278800
Urachal Cyst
Erythema, Peritonitis ORPHA:488
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Flexion contracture OMIM:618201
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Flexion contracture, Generalized abnormality of skin ORPHA:367
Infant Acute Respiratory Distress Syndrome
Pneumonia, Tachypnea, Nasal flaring, Cyanosis ORPHA:70587
Hereditary Angioedema Type 1
Dermatographic urticaria, Respiratory distress, Dyspnea, Abnormal soft palate morphology, Abnorma... ORPHA:100050
Carnitine Deficiency, Systemic Primary
Respiratory distress OMIM:212140
Immunodeficiency 10
Recurrent otitis media, Amelogenesis imperfecta, Recurrent pneumonia OMIM:612783
Milroy Disease
Cellulitis, Hyperkeratosis, Erysipelas ORPHA:79452
Congenital Enterovirus Infection
Hepatitis, Respiratory distress, Skin rash, Infectious encephalitis, Myocarditis ORPHA:292
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, High palate, Inguinal hernia OMIM:619272
Tyrosinemia Type 2
Palmoplantar keratoderma, Malar flattening, Hyperkeratosis ORPHA:28378
Bosma Arhinia Microphthalmia Syndrome
Absent tragus, Cleft lip, Dental malocclusion, Atresia of the external auditory canal, Conductive... OMIM:603457
Williams Syndrome
Synostosis of joints, Carious teeth, Open bite, Micrognathia, Genu valgum, Sensorineural hearing ... ORPHA:904
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplasia of the maxilla, Carious teeth, Toe syndactyly, Hearing impairment, Selective tooth age... OMIM:604292
Zollinger-Ellison Syndrome
Erythema, Esophagitis, Multiple lipomas, Jaundice, Lipoma ORPHA:913
Congenital Diaphragmatic Hernia
Respiratory distress, Congenital diaphragmatic hernia ORPHA:2140
Spinocerebellar Ataxia 34
Erythroderma, Epidermal hyperkeratosis OMIM:133190
Hyperekplexia 1
Apnea, Aspiration, Inguinal hernia, Umbilical hernia OMIM:149400
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of the temporomandibular joint, Open mouth, Protruding tongue, Hypoventilation, Incre... ORPHA:258
Multiple Endocrine Neoplasia Type 4
Erythema, Confetti-like hypopigmented macules, Esophagitis, Subcutaneous lipoma ORPHA:276152
Sympathetic Ophthalmia
Tinnitus, Erythema, Posterior uveitis, Hearing impairment ORPHA:79098
Stt3B-Cdg
Respiratory distress ORPHA:370924
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress OMIM:615597
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, High palate, Exertional dyspnea, Sensorineural hearing impairment OMIM:220110
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Congenital Disorder Of Glycosylation, Type Iim
Thick vermilion border, Open mouth, Exaggerated cupid's bow, Fused teeth, Enamel hypoplasia, High... OMIM:300896
Japanese Encephalitis
Distal upper limb muscle weakness, Abnormal pattern of respiration, Respiratory distress, Elbow f... ORPHA:79139
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea ORPHA:142
Meconium Aspiration Syndrome
Respiratory distress, Aspiration pneumonia ORPHA:70588
Singleton-Merten Syndrome 1
Osteopenia, Hypoplasia of the maxilla, Carious teeth, Expanded metatarsals with widened medullary... OMIM:182250
Lymphatic Malformation 12
Hyperkeratosis, Inguinal hernia OMIM:620014
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Pancreatitis, Tubulointerstitial nephritis OMIM:251000
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thickened skin, Respiratory distress, Joint stiffness, Hernia, Deep palmar crease, Thick vermilio... ORPHA:505248
Nasolacrimal Duct Cyst
Cellulitis, Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress, Chronic i... ORPHA:141083
Primary Dystonia, Dyt4 Type
Respiratory distress, Open mouth ORPHA:98805
Shwachman-Diamond Syndrome 1
Proximal femoral epiphysiolysis, Respiratory distress, Metaphyseal sclerosis, Proximal femoral me... OMIM:260400
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Tachypnea, Cholesteatoma OMIM:610978
Tuberous Sclerosis 1
Dental enamel pits, Hypomelanotic macule, Subcutaneous nodule, Gingival fibromatosis, Cafe-au-lai... OMIM:191100
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Jaundice, Abnormal pinna morphology OMIM:231680
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Joint contracture of the hand, Respiratory distress, Joint contracture, High palate, Mandibular p... OMIM:620278
Vipoma
Erythema, Subcutaneous lipoma, Intermittent jaundice ORPHA:97282
Chilton-Okur-Chung Neurodevelopmental Syndrome
Low-set ears, Recurrent otitis media, Ankyloglossia, Micrognathia, Sensorineural hearing impairme... OMIM:619841
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Hearing impairment, Erythemato... OMIM:158310
Congenital Disorder Of Deglycosylation 1
Low-set ears, Small hand, Respiratory distress, Open mouth, Single transverse palmar crease, Intr... OMIM:615273
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis ORPHA:330021
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Osteogenesis Imperfecta, Type Vii
Dentinogenesis imperfecta, Rhizomelia, Osteopenia, Micromelia, Long philtrum, Decreased calvarial... OMIM:610682
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea, Short humerus, Sensorineural hearing impairment, Polydactyly, Orofac... ORPHA:17
Rett Syndrome, Congenital Variant
Thin upper lip vermilion, Talipes equinovarus, Protruding ear, Aspiration OMIM:613454
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Low-set ears, Respiratory distress, Aplasia of the epiglottis, Median cleft upper lip, Hypodontia... OMIM:617088
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Cryptococcosis
Pneumonia, Respiratory distress, Osteomyelitis, Prostatitis, Peritonitis, Dyspnea, Osteolysis ORPHA:1546
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Tachypnea OMIM:237310
Acrofacial Dysostosis, Cincinnati Type
Low-set ears, Hearing impairment, Recurrent otitis media, Median pseudocleft lip, Micrognathia, H... OMIM:616462
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Sclerodactyl... OMIM:610644
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Prominent antihelix, Downturned corners of mouth, Conductive hearing impairment, Single transvers... ORPHA:466943
Congenital Tracheomalacia
Pneumonia, Intercostal retractions, Tracheomalacia, Apnea, Cyanosis, Cutis laxa, Dyspnea, Tracheo... ORPHA:95430
6Q Terminal Deletion Syndrome
High, narrow palate, Clinodactyly, Low-set, posteriorly rotated ears, Micrognathia, Joint hypermo... ORPHA:75857
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hearing impairment, Respiratory distress, Exertional dyspnea, Orthopnea, Osteoporosis, Macrogloss... ORPHA:365
Kasabach-Merritt Phenomenon
Respiratory distress, Purpura, Hypopnea, Petechiae ORPHA:2330
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma... OMIM:204690
Enamel-Renal Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho... ORPHA:1031
Bilateral Perisylvian Polymicrogyria
Hearing impairment, Micrognathia, Apnea, Protruding tongue, Distal arthrogryposis, Flexion contra... ORPHA:98889
Adenocarcinoma Of The Anal Canal
Skin ulcer ORPHA:424016
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Brain-Lung-Thyroid Syndrome
Respiratory distress, Hypodontia, Recurrent pneumonia, Sensorineural hearing impairment ORPHA:209905
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Respiratory distress, Petechiae, Ecchymosis, Glomerulonephritis, Dyspnea, Acute tubulo... ORPHA:340
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Short philtrum, Hyperkeratosis, Downturned corners of mouth, Hearing impairment OMIM:615510
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Talipes equinovarus, Short tibia, Short femur OMIM:620306
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Ulbright-Hodes Syndrome
Low-set ears, Abnormal forearm bone morphology, Respiratory distress, Fibular aplasia, Micrognath... ORPHA:3404
Knobloch Syndrome 2
Micrognathia, Enamel hypoplasia OMIM:618458
Oculopharyngodistal Myopathy 1
Respiratory distress, High palate, Aspiration, Sensorineural hearing impairment OMIM:164310
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Low-set ears, Respiratory distress, Smooth philtrum, Jaundice, Glossitis, Stomatitis ORPHA:79282
Isolated Arrhinia
Respiratory distress, Absent nasal septal cartilage, Hypoplasia of the nasal bone, Microtia ORPHA:1134
Triosephosphate Isomerase Deficiency
Respiratory distress, Jaundice, Prolonged neonatal jaundice, Cholecystitis OMIM:615512
Familial Adenomatous Polyposis
Abnormal cementum morphology, Abnormality of the dentition, Localized skin lesion, Eruption failu... ORPHA:733
Amyotrophic Lateral Sclerosis 21
Shoulder girdle muscle weakness, Aspiration, Hand muscle weakness OMIM:606070
Tuberous Sclerosis Complex
Epidermoid cyst, Generalized abnormality of skin, Respiratory distress, Confetti-like hypopigment... ORPHA:805
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Macroglossia, Hearing impairment ORPHA:308552
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Lipodystrophy, Aspiration, Hearing impairment OMIM:618922
Leprechaunism
Low-set ears, Thickened skin, Reduced subcutaneous adipose tissue, Protruding ear, Acanthosis nig... ORPHA:508
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea OMIM:115197
Cocaine Intoxication
Respiratory distress, Colitis, Tachypnea, Glomerulonephritis, Tubulointerstitial nephritis, Hyper... ORPHA:90068
Vocal Cord And Pharyngeal Distal Myopathy
Distal upper limb amyotrophy, Aspiration, Shoulder girdle muscle weakness ORPHA:600
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Flexion contracture, Aspiration ORPHA:2148
Oculocutaneous Albinism Type 1A
Thickened skin, Hyperkeratosis ORPHA:79431
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Sensorineural hearing impairment, Episodic respiratory distress, Dyspnea, Hyperventilation ORPHA:255210
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:274150
Pontine Tegmental Cap Dysplasia
Aspiration, Sensorineural hearing impairment OMIM:614688
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Macroglossia, Apnea, Cyanosis OMIM:261740
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Gastritis, Tachypnea ORPHA:31826
Heterotaxy, Visceral, 1, X-Linked
Low-set ears, Block vertebrae, Respiratory distress, Cyanosis, Omphalocele, Bilateral talipes equ... OMIM:306955
Generalized Arterial Calcification Of Infancy
Conductive hearing impairment, Hearing impairment, Stapes ankylosis, Osteomalacia, Respiratory di... ORPHA:51608
Gitelman Syndrome
Chondrocalcinosis, Respiratory distress, Gout, Scleroderma, Tinnitus, Hashimoto thyroiditis, Tubu... ORPHA:358
Lymphatic Filariasis
Lymphadenitis, Orchitis, Knee osteoarthritis, Glomerulonephritis, Hyperkeratosis, Epididymitis ORPHA:2035
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Developmental And Epileptic Encephalopathy 38
Aspiration OMIM:617020
Complete Atrioventricular Septal Defect
Cyanosis, Tachypnea, Intercostal retractions, Recurrent pneumonia ORPHA:1329
Colchicine Poisoning
Respiratory distress, Myocarditis ORPHA:31824
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Apnea, Hypopnea, Cyanosis OMIM:618426
Gm2-Gangliosidosis, Ab Variant
Aspiration OMIM:272750
Spinocerebellar Ataxia Type 8
Aspiration ORPHA:98760
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Amelogenesis imperfecta OMIM:248190
Lymphatic Malformation 7
Respiratory distress OMIM:617300
Pmm2-Cdg
Osteopenia, Mandibular prognathia, Retrognathia, Long philtrum, Aspiration pneumonia, Respiratory... ORPHA:79318
Congenital Tracheal Stenosis
Respiratory distress, Dyspnea, Cyanosis, Abnormal earlobe morphology ORPHA:141127
Leptospirosis
Uveitis, Hepatitis, Respiratory distress, Skin rash, Optic neuritis, Jaundice, Pericarditis ORPHA:509
Proximal Renal Tubular Acidosis
Enamel hypomineralization, Reduced bone mineral density ORPHA:47159
Congenital Alveolar Capillary Dysplasia
Respiratory distress ORPHA:210122
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Jaundice OMIM:617156
Microphthalmia, Syndromic 1
High, narrow palate, Tooth malposition, Joint contracture of the hand, Low-set ears, Dental crowd... OMIM:309800
Aortic Arch Interruption
Respiratory distress, Tachypnea, Exertional dyspnea, Cyanosis ORPHA:2299
Scimitar Syndrome
Respiratory distress, Hernia ORPHA:185
Johanson-Blizzard Syndrome
Aplasia cutis congenita of scalp, Downturned corners of mouth, Long philtrum, Agenesis of permane... OMIM:243800
Eisenmenger Syndrome
Bacterial endocarditis, Respiratory distress, Cyanosis, Exertional dyspnea, Clubbing ORPHA:97214
Congenital Total Pulmonary Venous Return Anomaly
Paroxysmal dyspnea, Respiratory distress, Pallor, Cyanosis, Apneic episodes in infancy, Exertiona... ORPHA:99125
Alström Syndrome
Recurrent pneumonia, Progressive sensorineural hearing impairment, Short toe, Tooth agenesis, Res... ORPHA:64
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Hernia, Congenital diaphragmatic hernia, Umbilical hernia ORPHA:2255
Epidermolysis Bullosa, Junctional 3A, Intermediate
Oral mucosal blisters OMIM:619785
Epidermolysis Bullosa, Junctional 3B, Severe
Oral mucosal blisters OMIM:619786

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lamc2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lamc2.

No publications found that use IMPC mice or data for Lamc2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Lamc2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lamc2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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