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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pruritic Urticarial Papules And Plaques Of Pregnancy
Urticarial plaque, Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythem... ORPHA:64745
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Oral mucosal blisters, Carious teeth, Skin erosion, Localized skin lesion, Pruritus, Palmoplantar... ORPHA:79410
Porokeratosis Plantaris Palmaris Et Disseminata
Abnormal skin morphology of the palm, Porokeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin ... ORPHA:737
Dowling-Degos Disease
Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Abnormality of the hand, Palmar pit... ORPHA:79145
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Asthma, Ski... ORPHA:90280
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ab... ORPHA:87503
Darier Disease
Macule, Acrokeratosis, Hypermelanotic macule, Pruritus, Thickened skin, Plantar pits, Palmoplanta... ORPHA:218
Ichthyosis, Annular Epidermolytic, 1
Erythema, Hyperparakeratosis, Palmoplantar hyperkeratosis, Erythematous plaque, Congenital bullou... OMIM:607602
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer, Papule ORPHA:2337
Pemphigus Foliaceus
Psoriasiform dermatitis, Abnormal oral mucosa morphology, Acantholysis, Pruritus, Pustule, Erythe... ORPHA:79481
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... OMIM:620148
Ulerythema Ophryogenesis
Acne, Dry skin, Erythematous papule, Facial erythema, Dermal atrophy, Follicular hyperkeratosis, ... ORPHA:3406
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Osteopenia, Osteomyelitis, Skin rash, Eczema, Craniosynostosis, Abnorm... ORPHA:2314
Cutaneous Mastocytoma
Macule, Maculopapular exanthema, Hypermelanotic macule, Telangiectasia of the skin, Hyperpigmente... ORPHA:79455
Keratoderma Hereditarium Mutilans With Ichthyosis
Scaling skin on fingertip, Parakeratosis, Hypergranulosis, Sensorineural hearing impairment, Hone... ORPHA:79395
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... ORPHA:454
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Oral mucosal blisters, Pruritus, Palmoplantar hyperkeratosis, Skin fragility with ... ORPHA:158681
Familial Benign Chronic Pemphigus
Skin vesicle, Skin erosion, Erythema ORPHA:2841
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Atrophoderma Vermiculata
Hypoplastic pilosebaceous units, Pruritus, Erythema, Periauricular skin pits, Atrophic scars, Ski... ORPHA:79100
Erythema Elevatum Diutinum
Skin vesicle, Skin nodule ORPHA:90000
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Telangiectasia of the skin, Abnormality of the hand, Indura... ORPHA:542592
Lichen Planus Pemphigoides
Abnormal oral mucosa morphology, Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis ORPHA:254478
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperkeratosis, Atop... ORPHA:530838
Iga Pemphigus
Neutrophilic infiltration of the skin, Acantholysis, Oral mucosal blisters, Pruritus, Pustule, Ul... ORPHA:555905
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Generalized ichthyosis, Er... OMIM:612281
Prolidase Deficiency
Aplasia/Hypoplasia of the skin, Bilateral single transverse palmar creases, Arachnodactyly, Micro... ORPHA:742
Juvenile Hyaline Fibromatosis
Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Joint stiffness, Subcutaneous n... ORPHA:2028
Classic Mycosis Fungoides
Skin rash, Eczema, Pruritus, Erythema, Hypopigmented skin patches, Skin ulcer, Skin plaque, Hyper... ORPHA:2584
Junctional Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Localized skin lesion, Fragile skin, Gastrointestinal infla... ORPHA:79405
Acrokeratoelastoidosis Of Costa
Yellow papule, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hyperkeratosis, Hyperkerat... ORPHA:38
Erythrokeratodermia Variabilis
Macule, Brachydactyly, Skin rash, Hypermelanotic macule, Tapered finger, Erythema, Patchy palmopl... ORPHA:317
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Subcutaneous nodule, Flexion contract... ORPHA:231
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Ankylosis, Abnormal... ORPHA:659
Progressive Symmetric Erythrokeratodermia
Erythema, Palmoplantar keratoderma, Skin plaque ORPHA:316
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... OMIM:617571
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Palmar hyperlinearity, Palmoplantar keratoderma, Congenital nonbullous ichthyosifo... OMIM:604777
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis OMIM:613943
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology, Joint stiffness, Erythema, Urticaria, Hyperkeratosis, Ichthyos... ORPHA:816
Dermatitis, Atopic
Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Asthma, Atopic dermatitis, Facial... OMIM:603165
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... OMIM:617526
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Syndactyly, Ectodermal dysplasia, Palmoplantar keratoderma, Follicular ... OMIM:613576
Late-Onset Junctional Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Localized skin lesion, Fragile skin, Gastrointestinal infla... ORPHA:79406
Self-Improving Dystrophic Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Skin erosion, Fragile skin, Gastrointestinal inflammation, ... ORPHA:79411
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Hypermelanotic macule, Abnormality of the dentition, Oral mucosal blister... ORPHA:79399
Hennekam-Beemer Syndrome
Macule, Telangiectasia of the skin, Camptodactyly of finger, Pneumonia, Micrognathia, Pruritus, C... ORPHA:2135
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin, Porokeratosis, Pruritus, Hyperkeratosis, Cutaneous photosensitivity ORPHA:735
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Anonychia With Flexural Pigmentation
Abnormal skin morphology of the palm, Macular telangiectasia, Hypermelanotic macule, Carious teet... ORPHA:69125
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:617525
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Papule, Recurrent cutaneous fungal infections OMIM:244850
Cutaneous Small Vessel Vasculitis
Skin rash, Recurrent skin infections, Cutis marmorata, Erythema, Subcutaneous nodule, Urticaria, ... ORPHA:889
Aquagenic Palmoplantar Keratoderma
Abnormal phalangeal joint morphology of the hand, Excessive skin wrinkling on dorsum of hands and... ORPHA:498359
Hyperkeratosis Lenticularis Perstans
Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer, Papule ORPHA:409
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoder... ORPHA:312
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Natal tooth, Eczema, Scarring alopecia of scalp, Cleft palate, Palmar h... OMIM:617337
Dermatitis Herpetiformis
Macule, Eczema, Recurrent fractures, Pruritus, Erythema, Urticaria, Skin vesicle ORPHA:1656
Maculopapular Cutaneous Mastocytosis
Macule, Yellow papule, Pruritus, Dyspnea, Erythema, Darier's sign, Dermatographic urticaria, Gene... ORPHA:79457
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Skin rash, Recurrent fractures, Craniosynostosis, Persistence of primary teeth, Eryth... OMIM:147060
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Neonatal respiratory distress, Increased connective tissue, Carious teeth, Scarring alopecia of s... OMIM:226670
Palmoplantar Keratoderma And Congenital Alopecia 2
Camptodactyly of finger, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, ... OMIM:212360
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Dyspnea, Cheilitis... ORPHA:293173
Odontoonychodermal Dysplasia
Plantar hyperkeratosis, Hypergranulosis, Erythema, Palmoplantar hyperkeratosis, Abnormality of pr... OMIM:257980
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Pruritus, Jaundice, Sclerosing cholangitis, Oligodontia, Hypodontia, Ichthyosis, O... OMIM:607626
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis, Skin nodule, Verrucous papule ORPHA:139414
Peeling Skin Syndrome 4
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthokeratosis OMIM:607936
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema, Palmoplantar keratoderma, Skin plaque OMIM:617524
Jessner Lymphocytic Infiltration Of The Skin
Pruritus, Erythema, Skin plaque, Cutaneous photosensitivity, Papule ORPHA:33314
Acral Peeling Skin Syndrome
Macule, Eczema, Erythema, Scaling skin, Ichthyosis, Skin erosion, Papule, Excessive wrinkling of ... ORPHA:263534
Erosive Pustular Dermatosis Of The Scalp
Pustule, Scarring alopecia of scalp, Erythema, Skin erosion ORPHA:222
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Erythematous plaque, Palmoplantar kerat... OMIM:173200
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Skin nodu... ORPHA:90160
Intermediate Generalized Junctional Epidermolysis Bullosa
Oral mucosal blisters, Scarring alopecia of scalp, Atrophic scars, Palmoplantar keratoderma, Apla... ORPHA:79402
Chronic Mucocutaneous Candidiasis
Skin rash, Abnormal dental enamel morphology, Pruritus, Erythema, Cheilitis, Skin ulcer, Hepatiti... ORPHA:1334
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Autoamputation of digits, Pruritus, Hyperparakeratosis, ... OMIM:614594
Lichen Planopilaris
Pruritus, Hypopigmented skin patches, Skin ulcer, Hepatitis, Hyperkeratosis, Dermal atrophy, Neop... ORPHA:525
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Skin ulcer, Congenital localized absence of skin, Abnormality ... ORPHA:1114
Cole Disease
Hypopigmented macule, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm... OMIM:615522
Acrogeria
Aplasia/Hypoplasia of the skin, Lipoatrophy, Prematurely aged appearance, Telangiectasia of the s... ORPHA:2500
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Pruritus,... ORPHA:90158
Dermatofibrosarcoma Protuberans
Subcutaneous nodule, Thickened skin, Erythema, Skin ulcer ORPHA:31112
Chilblain Lupus 1
Autoamputation of digits, Chilblains, Skin ulcer OMIM:610448
Epidermolysis Bullosa Simplex 1C, Localized
Palmoplantar blistering, Hyperkeratosis, Milia OMIM:131800
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Aplasia cutis congenita on trunk or limbs, Oral mucosal blisters, Pruritus, Palmoplantar hyperker... ORPHA:89838
Ichthyosis, Congenital, Autosomal Recessive 9
Eclabion, Hypergranulosis, Hyperkeratosis, Palmar hyperlinearity, Congenital nonbullous ichthyosi... OMIM:615023
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Parakeratosis, Single transverse palmar crease, Micrognathia, Absent middl... OMIM:308050
Transgrediens Et Progrediens Palmoplantar Keratoderma
Recurrent bacterial skin infections, Plantar hyperkeratosis, Angular cheilitis, Thickened skin, D... ORPHA:495
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Abnormal oral mu... ORPHA:79147
Hydroa Vacciniforme
Superficial dermal perivascular inflammatory infiltrate, Hydroa vacciniforme, Eczema, Scarring, T... ORPHA:330058
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Skin nodu... ORPHA:90159
Hereditary Sensory And Autonomic Neuropathy Type 1
Osteomyelitis, Poor wound healing, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis, Cough, Pa... ORPHA:36386
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Upper airway obst... ORPHA:141152
Erythema Of Acral Regions
Erythema, Talipes equinovarus, Abnormality of the dentition OMIM:227000
Hyperkeratosis-Hyperpigmentation Syndrome
Multiple cafe-au-lait spots, Hyperkeratosis, Cutaneous photosensitivity, Papule ORPHA:1336
Epidermolysis Bullosa, Junctional 1A, Intermediate
Plantar hyperkeratosis, Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia... OMIM:226650
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Joint stiffness, Palmoplantar hyperkeratosis, Abnormality of the dentition OMIM:617756
Pyoderma Gangrenosum
Myositis, Pustule, Skin ulcer, Atrophic scars, Inflammation of the large intestine, Rheumatoid ar... ORPHA:48104
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Inguinal hernia, Asthma, Erythema, Gingivitis, Hyperkeratosis, Scaling skin, Congenital nonbullou... OMIM:614457
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Swollen lip, Pruritus, Angioedema, Erythema, Upper airway obs... ORPHA:100057
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Scarring, Pustule, Scarring alopecia of scalp, Erythema ORPHA:346
Vulvovaginal Gingival Syndrome
Parakeratosis, Pruritus, Erythema, Oral ulcer, Gingivitis, Skin erosion ORPHA:83453
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Crusting erythematous dermatitis, Abnormality of the elbow, Palmoplantar hyperkeratosis... ORPHA:158673
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Respiratory distress, Dental crowding, Posteriorly rotated e... OMIM:614669
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Verrucous papule, Acrokeratosis OMIM:101900
Dermatoosteolysis, Kirghizian Type
Aplasia/Hypoplasia of the skin, Tarsal synostosis, Abnormality of the hand, Abnormality of the de... ORPHA:1657
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Carious teeth, Scarring alopecia of scalp, Keratitis, Facial erythema, Folliculitis, Palmoplantar... OMIM:612843
Parana Hard Skin Syndrome
Tapered finger, Thickened skin, Respiratory insufficiency, Hyperkeratosis, Restricted chest movement ORPHA:2812
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Cutaneous Collagenous Vasculopathy
Macule, Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasi... ORPHA:280779
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess OMIM:619986
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Skin ulcer, Arthritis, Ot... ORPHA:229717
Mal De Meleda
Ichthyosis, Congenital symmetrical palmoplantar keratosis, Perioral erythema, Brachydactyly OMIM:248300
Ollier Disease
Micromelia, Joint stiffness, Abnormal cartilage morphology, Subcutaneous nodule, Osteolysis, Skin... ORPHA:296
Flynn-Aird Syndrome
Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Hyperkeratosis, Der... OMIM:136300
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca... ORPHA:251393
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Wells Syndrome
Skin vesicle ORPHA:901
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Cutis marmorata, Achilles tendon contracture, Dental malocclusion, Spot... OMIM:619719
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Erythema, Tooth agenesis, Hyperkeratosis, Palmoplantar keratoderma, Icht... OMIM:615821
Localized Scleroderma
Fasciitis, Flexion contracture, Uveitis, Hashimoto thyroiditis, Thickened skin, Abnormal facial s... ORPHA:90289
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Dermal atrophy, Skin vesicle, ... ORPHA:257
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Angular cheilitis, Follicular hyperkeratosis OMIM:613102
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Sensorineural hearing impairment, Tooth ankylosi... OMIM:166750
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Hearing impairment, M... OMIM:618363
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Flexion contracture of finger, Abnormal dental morphology, Interphalang... ORPHA:69087
Dyskeratosis Congenita
Hypoplasia of the maxilla, Premature graying of hair, Periodontitis, Skin vesicle, Macule, Aplasi... ORPHA:1775
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic dermatitis, Skin ulcer, Recurrent ... ORPHA:217390
Angioma Serpiginosum
Macule, Erythema, Vascular skin abnormality ORPHA:95429
Limited Cutaneous Systemic Sclerosis
Foot joint contracture, Telangiectasia of the skin, Hypopigmented skin patches, Skin ulcer, Pulmo... ORPHA:220402
Peeling Skin Syndrome 3
Pruritus, Erythema, White scaling skin OMIM:616265
Hereditary Acrokeratotic Poikiloderma
Palmoplantar hyperkeratosis, Gingivitis, Papule, Finger syndactyly, Open bite, Skin ulcer, Urtica... ORPHA:2907
Familial Cold Autoinflammatory Syndrome 3
Allergic rhinitis, Pruritus, Asthma, Erythema, Angioedema, Dermatographic urticaria, Cold urticar... OMIM:614468
Dystrophic Epidermolysis Bullosa Pruriginosa
Scarring, Pruritus, Subcutaneous nodule, Abnormality of the elbow, Hyperkeratosis, Atrophic scars... ORPHA:89843
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Sensorineural hearing impairment, Asthma, Hyperkeratosis, Palmoplantar... OMIM:616029
Ichthyosis Hystrix Of Curth-Macklin
Autoamputation of digits, Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Flexion... ORPHA:79503
Neuropathy, Hereditary Sensory, Type Iic
Autoamputation of digits, Acral ulceration, Intrinsic hand muscle atrophy OMIM:614213
Ramon Syndrome
Delayed eruption of teeth, Telangiectasia of the skin, Abnormal dental enamel morphology, Sensori... ORPHA:3019
Sydenham Chorea
Movement abnormality of the tongue, Erythema, Septic arthritis, Endocarditis ORPHA:306731
Vibratory Urticaria
Urticaria, Flushing, Facial erythema OMIM:125630
48,Xyyy Syndrome
Acne, Asthma, Thick lower lip vermilion, Irregularly spaced teeth, Radioulnar synostosis, High pa... ORPHA:99329
Infantile Systemic Hyalinosis
Osteopenia, Abnormal dental morphology, Camptodactyly of finger, Osteomalacia, Micromelia, Telang... ORPHA:2176
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Recessive Dystrophic Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Localized skin lesion, Fragile skin, Gastrointestinal infla... ORPHA:79409
Flynn-Aird Syndrome
Joint stiffness, Carious teeth, Bone cyst, Skin ulcer, Dermal atrophy, Progressive sensorineural ... ORPHA:2047
Erythema Nodosum, Familial
Erythema nodosum, Erythema OMIM:132990
Reynolds Syndrome
Skin rash, Telangiectasia of the skin, Pruritus, Jaundice, Skin ulcer, Respiratory insufficiency,... ORPHA:779
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Pulmonary embolism, Skin ulcer, Thin skin, Subcutaneous hemorrhag... ORPHA:743
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Redundant skin, Seborrheic dermatitis, Erythema, Osteoporosis, Clubbing, Palmoplantar... OMIM:259100
Chikungunya
Macule, Maculopapular exanthema, Skin rash, Epistaxis, Joint stiffness, Pruritus, Erythema nodosu... ORPHA:324625
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Posteriorly rotated ears, Micrognathia, Dyspnea, Gingival overgrowth, Gingi... ORPHA:1832
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Abnormality of the hand, Pustule, S... ORPHA:3243
Reticulate Acropigmentation Of Kitamura
Macule, Hyperkeratosis OMIM:615537
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Oral ulcer, Bronchiectasis, Facial erythema, Arthritis, Vasculiti... OMIM:620321
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis OMIM:617574
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Keratoderma Hereditarium Mutilans
Autoamputation of digits, Sensorineural hearing impairment, Osteolysis, Honeycomb palmoplantar hy... ORPHA:494
Elastosis Perforans Serpiginosa
Skin-colored papule, Crusting erythematous dermatitis, Cutis laxa, Hyperkeratotic papule, Erythem... ORPHA:79148
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Erythema, Colitis OMIM:219095
Pachyonychia Congenita
Respiratory distress, Natal tooth, Epidermoid cyst, Angular cheilitis, Palmoplantar blistering, L... ORPHA:2309
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Subcutaneous nodule ORPHA:2297
Rosaï-Dorfman Disease
Erythema, Subcutaneous nodule, Osteolysis, Papule ORPHA:158014
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... OMIM:615508
Prolidase Deficiency
Chronic lung disease, Eczema, Micrognathia, Asthma, Crusting erythematous dermatitis, Recurrent p... OMIM:170100
Keratosis Pilaris Atrophicans
Erythema, Papule, Comedo OMIM:604093
Proliferating Trichilemmal Cyst
Epidermoid cyst, Skin ulcer ORPHA:492
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Erythema, Septic arthritis ORPHA:36237
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema, Hyperkeratosis, Palmar hyperlinearity, Palmoplantar keratoderma, Congenital nonbullous ... OMIM:606545
Corneodermatoosseous Syndrome
Brachydactyly, Abnormal dental enamel morphology, Abnormality of the hand, Carious teeth, Thicken... ORPHA:3194
Hypotrichosis 6
Pruritus, Erythema, Follicular hyperkeratosis OMIM:607903
Dowling-Degos Disease 2
Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis OMIM:615327
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, Pyoderma gangrenosum, Bronchi... OMIM:616576
Mastocytosis, Cutaneous
Urticaria, Erythema, Hypermelanotic macule, Telangiectasia macularis eruptiva perstans OMIM:154800
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Hall-Riggs Syndrome
Metaphyseal dysplasia, Thick lower lip vermilion, Osteoporosis, Microdontia of primary teeth, Hyp... OMIM:234250
Incontinentia Pigmenti
Abnormal hand morphology, Orofacial cleft, Uveitis, Infectious encephalitis, Finger syndactyly, A... ORPHA:464
Shaheen Syndrome
Carious teeth, Enamel hypoplasia, Palmoplantar hyperkeratosis OMIM:615328
Porphyria Variegata
Proximal muscle weakness in upper limbs, Scarring, Thickened skin, Localized skin lesion, Respira... ORPHA:79473
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture, Large fleshy ears, C... OMIM:203550
Rubinstein-Taybi Syndrome 2
Syndactyly, Posteriorly rotated ears, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dent... OMIM:613684
Chromomycosis
Erythematous macule, Pruritus, Keratitis, Ankylosis, Subcutaneous nodule, Verrucous papule, Hypop... ORPHA:182
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly, Carious teeth, Congenital localized absence of skin, Atrophic scars, Enamel hypoplasi... OMIM:226700
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Osteomyelitis, Sensorineural hearing... ORPHA:47
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Sensorineural hearing impairment, Palmoplantar keratoderma ORPHA:2202
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Ectoderma... OMIM:613573
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis, Papule ORPHA:315
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Skin ulcer, Chronic otitis media, Emphysema, Chronic sinusitis OMIM:604571
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Cut... ORPHA:727
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Elbow flexion contracture, Pyoderma gangrenosum, Knee flexion contracture, Sterile arthriti... OMIM:604416
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Keratitis, Scarring alopecia of scalp, Facial erythema, Folliculitis, Palmoplantar keratoderma, C... OMIM:308800
Fixed Drug Eruption
Erythema, Crusting erythematous dermatitis, Oral ulcer, Erythematous plaque, Stomatitis, Skin ero... ORPHA:293812
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Hepatitis, Palmoplantar hyperkeratosis, Thick vermilion border, Enamel hypoplasia ORPHA:363523
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Apnea, Micromelia, Erythema, Flexion contracture, Thin vermilion b... OMIM:610015
Fountain Syndrome
Craniofacial hyperostosis, Brachydactyly, Metaphyseal dysplasia, Cutis marmorata, Sensorineural h... ORPHA:3219
Rapp-Hodgkin Syndrome
Conical tooth, Hypoplasia of the maxilla, Anhidrotic ectodermal dysplasia, 2-3 toe cutaneous synd... OMIM:129400
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Carious teeth, Dyspnea, Flexion contracture, Osteolysis, Skin ulcer, ... ORPHA:220393
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis, Acral ulceration, Skin ulcer ORPHA:139578
Perching Syndrome
Respiratory distress, Cyanosis, High palate, Camptodactyly, Joint contracture OMIM:617055
Intellectual Disability, Birk-Barel Type
Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow pal... ORPHA:166108
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Beta-Thalassemia
Hepatitis, Respiratory insufficiency, Skin ulcer, Reduced bone mineral density, Pallor ORPHA:848
Brooke-Spiegler Syndrome
Hearing impairment, Salivary gland neoplasm, Skin-colored papule, Skin nodule, Skin ulcer, Abnorm... ORPHA:79493
Ichthyosis, Congenital, Autosomal Recessive 2
Hypergranulosis, Short toe, Erythema, Hyperkeratosis, Palmar hyperlinearity, Palmoplantar keratod... OMIM:242100
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Skin ulce... ORPHA:69126
Keratolytic Winter Erythema
Erythema, Palmoplantar hyperhidrosis OMIM:148370
Meige Disease
Recurrent bacterial skin infections, Recurrent skin infections, Skin ulcer, Atypical scarring of ... ORPHA:90186
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Interstitial pn... ORPHA:454831
Takayasu Arteritis
Increased inflammatory response, Subcutaneous nodule, Skin ulcer, Arthritis, Pulmonary arterial h... ORPHA:3287
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Small earlobe, Severe periodontitis, Scarring, Overlapping toe, Protruding... ORPHA:99843
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Cholangitis, Pustule, Erythema, Oligoarthritis, Furrowed ... OMIM:614204
Mulibrey Nanism
Dental crowding, Single transverse palmar crease, Absent frontal sinuses, Thickened cortex of lon... OMIM:253250
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperhidrosis, Palmoplantar hyperker... OMIM:615598
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema, Lipoatrophy, Absence of subcutaneous fat ORPHA:90157
Pycnodysostosis
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi... ORPHA:763
Reticular Dysgenesis
Chronic otitis media, Skin rash, Skin ulcer, Hearing impairment ORPHA:33355
Drug Reaction With Eosinophilia And Systemic Symptoms
Macule, Skin rash, Enanthema, Pustule, Myocarditis, Erythema, Cough, Hepatitis, Thyroiditis, Dysp... ORPHA:139402
Chime Syndrome
Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Erythema, Aplasia/... ORPHA:3474
Leishmaniasis
Abnormal oral mucosa morphology, Skin ulcer, Rhinitis, Pallor, Abnormal oral cavity morphology, S... ORPHA:507
Specific Granule Deficiency 2
Osteopenia, Brachydactyly, Abnormal pinna morphology, Posteriorly rotated ears, Sandal gap, Conic... OMIM:617475
Rothmund-Thomson Syndrome, Type 1
Conical tooth, Osteoporosis, Hyperkeratosis, Recurrent otitis media, Cafe-au-lait spot OMIM:618625
Superficial Epidermolytic Ichthyosis
Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis ORPHA:455
Dentin Dysplasia
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Plantar hyperkeratosis, Hypermelanotic macule, Abnormality of the dentition, Oral mucosal blister... ORPHA:79397
Familial Cold Urticaria
Pruritus, Sensorineural hearing impairment, Erythema, Urticaria, Arthritis, Conjunctivitis ORPHA:47045
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Fragi... OMIM:616295
Calciphylaxis
Cutis marmorata, Abnormality of skin physiology, Skin ulcer, Cellulitis, Ectopic ossification ORPHA:280062
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Recurrent skin infections, Pneumonia, Pyoderma gangrenosum, Oral ulcer, Gingivitis, R... ORPHA:486
Werner Syndrome
Increased bone mineral density, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, Rocke... ORPHA:902
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Limitation of joint mobility ORPHA:2680
Auriculocondylar Syndrome
Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, M... ORPHA:137888
Proteus Syndrome
Thin bony cortex, Epidermal nevus, Facial hyperostosis, Hyperkeratosis, Multiple lipomas, Calvari... OMIM:176920
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Intellectual Developmental Disorder, Autosomal Dominant 21
Sacral dimple, Posteriorly rotated ears, Single transverse palmar crease, Cleft palate, Thin verm... OMIM:615502
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Pruritus, Erythema, Skin plaque OMIM:254400
Infantile Myofibromatosis
Subcutaneous nodule, Bone cyst, Gingival fibromatosis, Skin ulcer, Osteolysis, Limitation of join... ORPHA:2591
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Chronic Granulomatous Disease
Macule, Sinusitis, Hypermelanotic macule, Eczema, Chronic pulmonary obstruction, Skin ulcer, Ging... ORPHA:379
Immunoglobulin A Vasculitis
Macule, Episcleritis, Skin rash, Pustule, Orchitis, Angioedema, Erythema, Vascular skin abnormali... ORPHA:761
Cockayne Syndrome Type 2
Mandibular prognathia, Hypermelanotic macule, Scarring, Delayed eruption of primary teeth, Hearin... ORPHA:90322
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of the dentition, Skin ulcer, Protruding ear, Hyperkeratosis, Keratoconjunctivitis si... ORPHA:1806
Blepharophimosis-Impaired Intellectual Development Syndrome
Joint laxity, Thin upper lip vermilion, Exaggerated cupid's bow, Posteriorly rotated ears, Tapere... OMIM:619293
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Fragile skin OMIM:615028
Familial Multiple Nevi Flammei
Hypermelanotic macule, Pulmonary embolism, Skin ulcer, Abnormality of the upper limb, Nevus flamm... ORPHA:624
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Buerger Disease
Acrocyanosis, Skin ulcer ORPHA:36258
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Acral Self-Healing Collodion Baby
Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Kindler Epidermolysis Bullosa
Flexion contracture, Gingivitis, Inflammation of the large intestine, Colitis, Periodontitis, Con... ORPHA:2908
Rheumatic Fever
Macule, Pericarditis, Sinusitis, Epistaxis, Myocarditis, Erythema, Subcutaneous nodule, Endocardi... ORPHA:3099
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Pruritus, Erythema, Rheumatoid arthritis, Papule ORPHA:79099
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Osteopenia, Sensorineural hearing impairment, Atrophic scars, Hernia, Follicular hyperkeratosis, ... ORPHA:300179
Cranioectodermal Dysplasia
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis... ORPHA:1515
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Short metacarpal, Osteoporosis, Short metatarsal, Enamel hypoplasia, B... OMIM:612463
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Micrognathia, Wide mouth, Widely spaced teeth, Clinodactyly, Macrotia OMIM:300934
Lethal Recessive Chondrodysplasia
Respiratory distress, Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Flared ... ORPHA:1423
Juvenile Dermatomyositis
Myositis, Pericarditis, Skin rash, Telangiectasia of the skin, Pruritus, Dyspnea, Erythema, Limit... ORPHA:93672
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Atrophic scars OMIM:131850
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Micrognathi... ORPHA:1143
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Clinodactyly of the 5th finger, Abnormal dental enamel mor... ORPHA:1077
Filippi Syndrome
Single transverse palmar crease, 2-4 toe syndactyly, Cutaneous syndactyly, Finger clinodactyly, T... OMIM:272440
Polyarteritis Nodosa
Pericarditis, Cutis marmorata, Erythema, Subcutaneous nodule, Skin ulcer ORPHA:767
Lamellar Ichthyosis
Abnormality of the dentition, Pruritus, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Ever... ORPHA:313
Acrootoocular Syndrome
Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, High, narrow palate, Cond... ORPHA:2980
Lipoid Proteinosis Of Urbach And Wiethe
Scarring, Thickened skin, Hyperkeratosis, Skin erosion, Skin plaque, Papule OMIM:247100
Adult-Onset Still Disease
Pericarditis, Skin rash, Pruritus, Cartilage destruction, Myocarditis, Erythema, Hepatitis, Arthr... ORPHA:829
Fusariosis
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Pro... ORPHA:228119
Rothmund-Thomson Syndrome Type 2
Osteopenia, Patellar hypoplasia, Facial erythema, High palate, Microdontia, Short phalanx of fing... ORPHA:221016
Familial Keratoacanthoma
Papule, Hyperkeratosis, Subcutaneous nodule, Skin ulcer ORPHA:493
Familial Tumoral Calcinosis
Skin rash, Abnormality of the dentition, Abnormality of the gingiva, Erythema, Subcutaneous nodul... ORPHA:53715
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia, Abnormal pinna morphology, Joint stiffness ORPHA:2871
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Erythema Palmare Hereditarium
Erythema OMIM:133000
Benign Chronic Pemphigus
Erythema OMIM:169600
Annular Erythema
Erythema OMIM:106500
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Cleft palate, Respiratory insufficiency, Restricti... OMIM:614399
Free Sialic Acid Storage Disease
Abnormality of the upper limb, Skin ulcer, Reduced bone mineral density ORPHA:834
Systemic Sclerosis
Flexion contracture, Acral ulceration, Digital pitting scar, Thickened skin, Digital ulcer, Finge... ORPHA:90291
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Preauricular pit, Syndactyly, Accessory oral frenulum, Hyperpigmented papule, Flexion contracture... ORPHA:88630
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Autoamputation of digits, Osteomyelitis, Acral ulceration, Osteolytic defects of the phalanges of... OMIM:613115
Bone Marrow Failure Syndrome 3
Metaphyseal dysplasia, Eczema, Hearing impairment, Micrognathia, Cupped ear, Oral ulcer, Reduced ... OMIM:617052
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Aplasia cutis congenita on trunk or limbs, Recurrent skin infections, Scarring, Craniosynostosis,... ORPHA:79396
Chronic Graft Versus Host Disease
Fasciitis, Poor wound healing, Urinary bladder inflammation, Dyspnea, Erythema, Flexion contractu... ORPHA:99921
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Periostitis, Osteomyelitis, Skin ulcer ORPHA:2218
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Lack of f... ORPHA:90156
Focal Dermal Hypoplasia
Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Subcutaneous nodule, Hernia, Ma... ORPHA:2092
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Recurrent fractures, Bowing of the legs, Carious teeth, Subperiosteal ... OMIM:277440
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Metaphyseal dysplasia, Posteriorly rotated ears, Osteoporosis, Diaphyseal dysplasia... OMIM:614727
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D... OMIM:605282
Snakebite Envenomation
Epistaxis, Localized skin lesion, Erythema, Angioedema, Respiratory failure, Respiratory paralysi... ORPHA:449285
Bullous Pemphigoid
Macule, Psoriasiform dermatitis, Eczema, Erythema, Urticaria ORPHA:703
Braddock-Carey Syndrome 1
Posteriorly rotated ears, Clinodactyly, Pierre-Robin sequence, Small hand, Cleft palate, Everted ... OMIM:619980
Primary Erythromelalgia
Pruritus, Erythema ORPHA:90026
Punctate Palmoplantar Keratoderma Type 1
Hypergranulosis, Verrucous papule, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthoke... ORPHA:79501
Bathing Suit Ichthyosis
Parakeratosis, Multiple joint contractures, Autoamputation of digits, Thickened skin, Palmoplanta... ORPHA:100976
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Joint laxity, Reduced forced vital capacity, Respiratory insufficiency due to muscle weakness, Hi... OMIM:617066
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Pyoderma gangrenosum, Bronchiectasis, Recurrent aphthous stomatitis, Chronic... OMIM:150550
Warburg-Cinotti Syndrome
Hypoplasia of the ear cartilage, Dental crowding, Posteriorly rotated ears, Ankle flexion contrac... OMIM:618175
Attenuated Chédiak-Higashi Syndrome
Epistaxis, Bruising susceptibility, Gingival bleeding, Skin ulcer ORPHA:352723
Orofaciodigital Syndrome Type 2
Apnea, Micrognathia, Tachypnea, Protruding ear, Finger clinodactyly, High palate, Conductive hear... ORPHA:2751
Congenital Disorder Of Glycosylation, Type Iil
Postaxial polydactyly, Retrognathia, Hyperkeratosis, Inflammation of the large intestine, Enamel ... OMIM:614576
Lowry-Maclean Syndrome
Osteopenia, Inguinal hernia, Single transverse palmar crease, Congenital diaphragmatic hernia, Mi... ORPHA:2409
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Acantholysis, Atypical scarring of skin, Urticaria, Abnorm... ORPHA:704
Hamamy Syndrome
Osteopenia, Micrognathia, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Tape... OMIM:611174
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Autoamputation of digits, Distal upper limb muscle weakness, Osteomyelitis, Skin ulcer OMIM:613640
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Epidermolysis Bullosa, Junctional 4, Intermediate
Carious teeth, Macular hyperpigmented dermopathy, Scarring alopecia of scalp, Dental enamel pits OMIM:619787
Clark-Baraitser syndrome
Joint laxity, Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Broad ... OMIM:300602
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna... OMIM:613849
Warty Dyskeratoma
Acrokeratosis, Abnormality of the alveolar ridges, Umbilicated nodule, Skin-colored papule, Acant... ORPHA:69745
Epidermolysis Bullosa, Lethal Acantholytic
Syndactyly, Natal tooth, Sandal gap, Acantholysis, Aplasia cutis congenita, Widely spaced toes, M... OMIM:609638
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Acantholysis, Palmoplantar hyperkeratosis, Tooth agenesis, Clubbing of fingers, Palmoplantar scal... OMIM:605676
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Abnormality of the dentition, Conductive hearing impairment, Sensorineural... ORPHA:557003
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... ORPHA:199306
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Trichothiodystrophy
Osteopenia, Congenital exfoliative erythroderma, Multiple joint contractures, High, narrow palate... ORPHA:33364
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Dry skin, Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth ORPHA:248
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Skin rash, Cutis marmorata, Joint stiffness, Pustule, Erythema, Tachypnea, Livedo retic... OMIM:615934
Rothmund-Thomson Syndrome
Osteopenia, Selective tooth agenesis, Reduced bone mineral density, Microdontia, Hypoplasia of th... ORPHA:2909
Hajdu-Cheney Syndrome
Osteopenia, Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Her... ORPHA:955
Mycetoma
Recurrent bacterial skin infections, Prominent superficial veins, Osteomyelitis, Abnormality of t... ORPHA:2583
Pgm3-Cdg
Mild neurosensory hearing impairment, Membranoproliferative glomerulonephritis, Recurrent skin in... ORPHA:443811
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Tongue fasciculations, Respiratory insufficiency, Increased connective tissue ORPHA:238329
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Apnea, Limited hip extension, Erythema, Flexion contracture, Corne... OMIM:614653
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Scaling skin, Fragile skin, Palmoplantar keratoderma OMIM:146590
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Hypotrichosis Simplex Of The Scalp
Parakeratosis, Allergic rhinitis, Abnormality of the dentition, Pruritus, Atopic dermatitis, Hype... ORPHA:90368
Bazex Syndrome
Parakeratosis, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosis nigri... ORPHA:166113
Autosomal Erythropoietic Protoporphyria
Pruritus, Cutaneous photosensitivity, Erythema, Eczema ORPHA:79278
Epidermolytic Palmoplantar Keratoderma
Interphalangeal joint contracture of finger, Hypergranulosis, Epidermal hyperkeratosis, Diffuse p... ORPHA:2199
Pemphigus Erythematosus
Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,... ORPHA:79480
Seckel Syndrome 5
Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Low-s... OMIM:613823
Xeroderma Pigmentosum
Macule, Craniofacial hyperostosis, Conjunctival telangiectasia, Telangiectasia of the skin, Hyper... ORPHA:910
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Posteriorly ... ORPHA:2759
Acrodermatitis Enteropathica
Pustule, Erythema, Abnormality of the tongue, Skin ulcer, Furrowed tongue, Cheilitis, Conjunctivi... ORPHA:37
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Lipoatrophy, Micrognathia, Skin dimple, Thin vermilion border, Short philtr... ORPHA:261304
Bardet-Biedl Syndrome 16
Recurrent otitis media, Polydactyly, Respiratory distress, Hearing impairment OMIM:615993
Otodental Syndrome
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Abnormal dental ename... ORPHA:2791
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra... OMIM:151050
Ichthyosis, Hystrix-Like, With Deafness
Scarring alopecia of scalp, Sensorineural hearing impairment, Palmoplantar hyperkeratosis, Hyperk... OMIM:602540
Relapsing Polychondritis
Uveitis, Conjunctivitis, Cough, Chondritis, Macule, Hepatitis, Scleritis, Abnormal pattern of res... ORPHA:728
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema, Facial erythema OMIM:618307
48,Xxyy Syndrome
Broad jaw, Delayed eruption of teeth, Inguinal hernia, Apnea, Abnormal dental enamel morphology, ... ORPHA:10
Lipoid Proteinosis
Acne, Abnormal oral mucosa morphology, Scarring, Pustule, Thickened skin, Abnormality of the ging... ORPHA:530
Dominant Beta-Thalassemia
Bowing of the long bones, Abnormality of the dentition, Malar prominence, Dyspnea, Jaundice, Oste... ORPHA:231226
Odontochondrodysplasia
Delayed eruption of teeth, Respiratory distress, Bowing of the long bones, Micromelia, Coxa valga... ORPHA:166272
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Erythema, Limitation of joint mobility, Urticaria, Arthritis, Recurrent aphthous sto... ORPHA:343
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Increased bone mineral density, Periapical tooth abscess, Enamel hypominerali... ORPHA:3352
Scarf Syndrome
Low-set, posteriorly rotated ears, Inguinal hernia, Craniosynostosis, Cutis laxa, Joint hyperflex... ORPHA:3134
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Livedo, Telangiectasia, Conical incisor, Facial telangiectasia, Enamel hypoplasia OMIM:614564
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Erythroderma, Ichthyosis, Pa... ORPHA:2897
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation... ORPHA:556
Xeroderma Pigmentosum, Complementation Group F
Erythema, Flexion contracture, Cutaneous photosensitivity, Papule, Hearing impairment OMIM:278760
Muscular Hypertonia, Lethal
Respiratory distress, Umbilical hernia, Pneumonia OMIM:254120
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Odontochondrodysplasia 1
Delayed eruption of teeth, Respiratory distress, Short metacarpal, Brachydactyly, Micromelia, Met... OMIM:184260
Seckel Syndrome 1
Dental crowding, Selective tooth agenesis, Abnormal pinna morphology, Micrognathia, Single transv... OMIM:210600
Cenani-Lenz Syndactyly Syndrome
Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia... OMIM:212780
Cryoglobulinemic Vasculitis
Viral hepatitis, Cutis marmorata, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Petechiae, P... ORPHA:91138
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious... OMIM:617102
Tularemia
Respiratory distress, Skin rash, Pneumonia, Erythema nodosum, Localized skin lesion, Oral ulcer, ... ORPHA:3392
Rothmund-Thomson Syndrome Type 1
Osteopenia, Patellar hypoplasia, Facial erythema, Microdontia, Short phalanx of finger, Genu varu... ORPHA:221008
Blau Syndrome
Pericarditis, Skin rash, Camptodactyly of finger, Erythema nodosum, Retrobulbar optic neuritis, K... ORPHA:90340
Harlequin Ichthyosis
Limitation of joint mobility, Respiratory insufficiency, Hyperkeratosis, Congenital ichthyosiform... ORPHA:457
Toxic Epidermal Necrolysis
Macule, Respiratory distress, Acantholysis, Erythema, Skin ulcer, Restrictive ventilatory defect,... ORPHA:537
Sjogren-Larsson Syndrome
Enamel hypoplasia, Flexion contracture, Ichthyosis OMIM:270200
Cleidocranial Dysplasia 1
Respiratory distress, Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle pha... OMIM:119600
Subacute Cutaneous Lupus Erythematosus
Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Cutaneous photosensitivity, A... ORPHA:163525
Poikiloderma With Neutropenia
Joint laxity, Plantar hyperkeratosis, Skin rash, Micrognathia, Carious teeth, Joint stiffness, Re... OMIM:604173
Immunodeficiency 23
Membranoproliferative glomerulonephritis, Eczema, Allergic rhinitis, Sensorineural hearing impair... OMIM:615816
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Oral mucosal blisters, Flexion contracture, Fragile skin, Corneal scarring, Atrophic scars, Conju... OMIM:226600
Costello Syndrome
Low-set, posteriorly rotated ears, Abnormal dental enamel morphology, Redundant skin, Abnormality... ORPHA:3071
Osteogenesis Imperfecta, Type Xix
Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Bow... OMIM:301014
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Joint hypermobility, Joint stiffness, Tracheobronchomalacia, Pierre-Robin sequen... OMIM:619184
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Enamel hypoplasia, Retrognathia, High palate OMIM:617915
Lethal Acantholytic Erosive Disorder
Natal tooth, Abnormal pinna morphology, Acantholysis, 4-5 finger syndactyly, 2-3 finger syndactyl... ORPHA:158687
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Epistaxis, Keratitis, Dyspnea, Chronic pulmonary obstruction, Skin ulcer, Urti... ORPHA:906
Acquired Purpura Fulminans
Macule, Erythematous macule, Skin rash, Pyoderma gangrenosum, Macular purpura, Acrocyanosis ORPHA:49566
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Craniosynostosis, Palmoplantar cutis gyrata, Subcutaneous nodule, Aplasia/H... ORPHA:1555
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption... OMIM:264700
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Protoporphyria, Erythropoietic, 1
Pruritus, Erythema, Eczema OMIM:177000
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Raine Syndrome
Mandibular prognathia, Micromelia, Micrognathia, Protruding ear, High palate, Microdontia, Long h... OMIM:259775
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Pruritus, Neonatal asphyxia, Asthma, Dermatographic urticaria, Generalized ich... OMIM:608649
Leopard Syndrome 3
Few cafe-au-lait spots, Numerous nevi, Posteriorly rotated ears, Epidermal hyperkeratosis, Sensor... OMIM:613707
Atkin-Flaitz Syndrome
Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Macrotia, Maxi... ORPHA:1193
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Sensorineural hearing impairment, Osteoporosis, Short philtrum, Dentin... ORPHA:71267
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
17Q11.2 Microduplication Syndrome
Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology ORPHA:139474
Moebius Syndrome
Respiratory distress, Syndactyly, Brachydactyly, Abnormal pinna morphology, Micrognathia, Abnorma... OMIM:157900
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... ORPHA:2325
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Microcephalic Primordial Dwarfism, Toriello Type
Downturned corners of mouth, Enamel hypoplasia, Brachydactyly ORPHA:2643
Ichthyosis, Congenital, Autosomal Recessive 11
Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma, Conical primary incisor, Blephar... OMIM:602400
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... ORPHA:284426
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Darier-White Disease
Acrokeratosis, Hypermelanotic macule, Acantholysis, Palmar pits, Pruritus, Plantar pits, Enlargem... OMIM:124200
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp... OMIM:618727
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Dental crowding, Fifth finger distal phalanx clinodactyly, Micrognathi... OMIM:257850
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Foot osteomyelitis, Osteomyelitis, Sensorineural hearing impairment, Acral ulceration, Tongue fas... OMIM:162400
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Aplasia cutis congenita on trunk or limbs, Oral mucosal blisters, Fragile skin, Atrophic scars, A... OMIM:226730
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Respiratory distress, Osteomyelitis, Skin rash, Pustule, Periostitis, Osteolysis, Hyp... OMIM:612852
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Posteriorly rotated ears, Sandal gap, Joint hypermobility, Carious tee... OMIM:619229
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Skin tags, Conical tooth, Micrognathia, Anteverted ears, Aplasia of the inner ear, Widely spaced ... OMIM:610706
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Conical incisor, Oligodontia, Cutaneous finger syndactyly, Short palm, Conductive hearing impairm... OMIM:235510
Snijders Blok-Campeau Syndrome
Joint laxity, Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Low-set ears, Umbil... OMIM:618205
Schopf-Schulz-Passarge Syndrome
Hyperkeratosis, Ectodermal dysplasia, Palmoplantar keratoderma, Hypodontia, Dry skin OMIM:224750
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Single transverse palmar crease, Adducted thumb, Notched primary central incisor, Low-set ears, B... OMIM:620062
Neutrophilic Dermatosis, Acute Febrile
Erythema, Pyoderma gangrenosum, Panniculitis, Cystic acne, Acne inversa OMIM:608068
Livedoid Vasculopathy
Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Cutis marmora... ORPHA:542643
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hearing impairment OMIM:618349
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Aplasia/Hyp... ORPHA:1782
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Cockayne Syndrome Type 1
Mandibular prognathia, Absent brainstem auditory responses, Foot joint contracture, Hypermelanoti... ORPHA:90321
Beta-Thalassemia Intermedia
Osteopenia, Jaundice, Osteoporosis, Skin ulcer, Reduced bone mineral density, Increased susceptib... ORPHA:231222
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Short metacarpal, Short toe, Osteoporosis, Short metatarsal, Subcutane... OMIM:103580
Bloom Syndrome
Syndactyly, Spotty hypopigmentation, Agenesis of maxillary lateral incisor, Facial erythema, Mala... OMIM:210900
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Erythematous plaque, Parakeratosis, Superficial dermal perivascular inflammatory infilt... OMIM:618531
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... ORPHA:166277
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening... ORPHA:536467
Stuve-Wiedemann Syndrome 2
Respiratory distress, Bowing of the long bones, Eczema, Camptodactyly, Pulmonary arterial hyperte... OMIM:619751
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Keratitis, Oral ulcer, Uveitis, Skin ulcer, Respiratory insufficiency, C... OMIM:608710
Liang-Wang Syndrome
Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi... OMIM:618729
Gaucher Disease, Perinatal Lethal
Respiratory distress, Everted upper lip vermilion, Apnea, Micrognathia, Hyperkeratosis, Ichthyosi... OMIM:608013
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Brachydactyly, Abnormal dental enamel morph... ORPHA:1005
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Cli... ORPHA:1452
Neuropathy, Hereditary Sensory, Type If
Hallux valgus, Osteomyelitis, Osteolytic defects of the phalanges of the hand, Hyperkeratosis, Me... OMIM:615632
Dermatomyositis
Pericarditis, Aplasia/Hypoplasia of the skin, Telangiectasia of the skin, Pruritus, Myocarditis, ... ORPHA:221
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Micrognathia OMIM:300580
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Abnormal dental morphology, Eczema, Abnormality of the dentition, Hypoplasia of the ma... ORPHA:238468
Myopathy And Diabetes Mellitus
Respiratory distress, Achilles tendon contracture, Sensorineural hearing impairment, Shoulder gir... ORPHA:2596
Beta-Thalassemia Major
Bowing of the long bones, Abnormality of the dentition, Malar prominence, Dyspnea, Jaundice, Oste... ORPHA:231214
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition OMIM:125440
Peeling Skin Syndrome 5
Hyperkeratosis, Scaling skin OMIM:617115
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... OMIM:619795
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Ectopi... ORPHA:2919
Adult Syndrome
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormality of the dentition, Skin... ORPHA:978
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness, Pallor OMIM:613561
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Tongue atrophy, Reduced vital capacity, Hand muscle weak... ORPHA:99956
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Protruding ear, ... ORPHA:534
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Hyperextensibility at e... OMIM:610967
Spondylocarpotarsal Synostosis Syndrome
Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Scapular winging, Short metacarpal, ... OMIM:272460
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Prominent superficial veins, Decreased adipose tiss... OMIM:608612
Recessive X-Linked Ichthyosis
Hyperkeratosis, Dry skin, Ichthyosis ORPHA:461
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Distal symphalangism, Ulnar bow... OMIM:210720
Granulomatosis With Polyangiitis
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Cough, Sensorineu... ORPHA:900
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Arachnodactyly, Camptodactyly of finger, Carious teeth, Sensorineural hearing impairment, Hyperke... ORPHA:1883
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ... ORPHA:289157
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Joint laxity, Multiple joint contractures, Respiratory insufficiency due to muscle weakness, High... ORPHA:486815
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Prolonged neonatal jaundice,... ORPHA:226313
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,... ORPHA:3253
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Erosion of oral mucosa, Foot joint contracture, Recurrent skin infections, Glomerulon... ORPHA:79408
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Increased bone mineral density, Short metacarpal, Osteoma cutis, Short... ORPHA:79444
Giant Cell Arteritis
Pericarditis, Epistaxis, Joint stiffness, Skin ulcer, Arthritis, Cough, Conductive hearing impair... ORPHA:397
Arthrogryposis And Ectodermal Dysplasia
Abnormal dental enamel morphology, Cleft upper lip, Orofacial cleft, Cleft palate, Atypical scarr... OMIM:601701
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Pustule, Perioral erythema, Erythroderma, Blepharitis OMIM:614328
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Erythema, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, Cellulitis OMIM:614878
Subcorneal Pustular Dermatosis
Pruritus, Erythema, Rheumatoid arthritis, Pustule ORPHA:48377
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h... OMIM:620011
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Erythematous plaque, Erythematous papule, Skin ulcer ORPHA:86884
Gaucher Disease Type 2
Respiratory distress, Flexion contracture, Abnormal pattern of respiration, Cough ORPHA:77260
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Erosion of oral mucosa, Recurrent skin infections, Abnormal oral mucosa mor... ORPHA:79404
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Urticarial plaque, Skin rash, Eczema, Cutis marmorata, Erythema nodosum, Aphthous ulcer, Oral ulc... OMIM:615688
Kniest Dysplasia
Respiratory distress, Hip contracture, Inguinal hernia, Rhizomelia, Tracheomalacia, Dumbbell-shap... OMIM:156550
Scarf Syndrome
Inguinal hernia, Posteriorly rotated ears, Coronal craniosynostosis, Cutis laxa, Low-set ears, Lo... OMIM:312830
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Increased bone mineral density, Short metacarpal, Osteoma cutis, Short... ORPHA:79443
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... OMIM:154780
Catastrophic Antiphospholipid Syndrome
Cutis marmorata, Pulmonary embolism, Myocarditis, Skin ulcer, Arthritis, Pulmonary arterial hyper... ORPHA:464343
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Abnormal dental enamel morphology, Scarring alopecia of scalp, Jaundice, Oligodontia, Hypodontia,... ORPHA:59303
Oculodentodigital Dysplasia
Abnormal pinna morphology, Selective tooth agenesis, Cleft upper lip, Carious teeth, Conductive h... OMIM:164200
Hypoglossia With Situs Inversus
Respiratory distress, Micrognathia, Upper airway obstruction, High palate, Hypodontia, Low-set ea... OMIM:612776
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Autoamputation of digits, Hypogeusia, Osteolytic defects of the phalanges of the hand, Foot acroo... OMIM:201300
Premature Aging Syndrome, Penttinen Type
Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, Tibial bowing, Short palm, ... OMIM:601812
Atypical Werner Syndrome
Sclerosis of hand bone, Micrognathia, Reduced bone mineral density, Finger clinodactyly, Prematur... ORPHA:79474
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist... OMIM:614856
Beare-Stevenson Cutis Gyrata Syndrome
Skin tags, Preauricular pit, Natal tooth, Redundant neck skin, Posteriorly rotated ears, Respirat... OMIM:123790
Cohen Syndrome
Short metacarpal, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High,... OMIM:216550
Adult Polyglucosan Body Disease
Limitation of joint mobility, Skin ulcer ORPHA:206583
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Camptodactyly of finger, Eczema, Erythema nodosum, Interm... OMIM:186580
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Arachnodactyly, Micrognathia, High, narrow palate, Dyspnea, Wide mouth, Abn... ORPHA:2707
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W... OMIM:618067
Nail-Patella Syndrome
Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, K... ORPHA:2614
Xfe Progeroid Syndrome
Prematurely aged appearance, Absence of subcutaneous fat, Corneal scarring, Cutaneous photosensit... OMIM:610965
Kcnq2-Related Epileptic Encephalopathy
Apnea, Pallor, Facial erythema ORPHA:439218
Incontinentia Pigmenti
Delayed eruption of teeth, Maculopapular exanthema, Scarring, Conical tooth, Keratitis, Erythema,... OMIM:308300
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Hypergranulosis, Acantholysis, Skin-colored papule, Punctate palmoplantar hyperker... ORPHA:79151
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin OMIM:602723
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Short palm, Ankle flexion contracture, Micrognathia, High, narrow palate, S... OMIM:608799
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Heimler Syndrome 1
Enamel hypoplasia, Sensorineural hearing impairment, Amelogenesis imperfecta OMIM:234580
Tooth Agenesis, Selective, 4
Abnormality of primary teeth, Agenesis of permanent teeth, Tooth agenesis, Thin skin, Palmoplanta... OMIM:150400
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Thin upper lip vermilion, Neonatal respiratory distress, Micrognathia, Cong... OMIM:615042
Tetrasomy 5P
Preauricular pit, Pericallosal lipoma, Respiratory distress, Redundant neck skin, Posteriorly rot... ORPHA:3309
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou... ORPHA:2457
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Ifap Syndrome 2
Ichthyosis follicularis, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctiviti... OMIM:619016
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Orofacial cleft, Microdontia, Finge... ORPHA:1896
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Increased bone mineral density, Cortical subperiosteal resorption of h... ORPHA:94089
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Cranioectodermal Dysplasia 4
Joint hypermobility, Sagittal craniosynostosis, Recurrent pneumonia, Decreased nasal nitric oxide... OMIM:614378
Nance-Horan Syndrome
Diastema, Screwdriver-shaped incisors, Mulberry molar, Broad finger, Supernumerary maxillary inci... OMIM:302350
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Abnormal mucociliary clearance, Bronchiectasis, Respiratory distress OMIM:619466
Osteogenesis Imperfecta, Type I
Osteopenia, Otosclerosis, Recurrent fractures, Femoral bowing, Increased susceptibility to fractu... OMIM:166200
Cranioectodermal Dysplasia 1
Single transverse palmar crease, High, narrow palate, Protruding ear, Tubulointerstitial nephriti... OMIM:218330
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Joint laxity, Thin upper lip vermilion, Dorsocervical fat pad, Micrognathia, Deviation of the 5th... ORPHA:391408
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Short metacarpal, Osteoporosis, Short metatarsal, Enamel hypoplasia, B... OMIM:612462
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Oculodentodigital Dysplasia
Mandibular prognathia, Micrognathia, Conductive hearing impairment, Clinodactyly of the 5th finge... ORPHA:2710
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Cutis laxa, Hyperkeratosis, Low-set ears, Ichthyosis, Dry skin OMIM:612379
Lacrimoauriculodentodigital Syndrome 3
Carious teeth, Short thumb, Partial duplication of thumb phalanx, Cupped ear, Microtia, Widely sp... OMIM:620193
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture OMIM:617977
Olmsted Syndrome 2
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... OMIM:619208
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Erythema, Recurrent pneumonia, Telangi... ORPHA:420741
Kid Syndrome
Angular cheilitis, Equinus calcaneus, Scarring alopecia of scalp, Posterior blepharitis, Prelingu... ORPHA:477
Craniofaciofrontodigital Syndrome
Osteopenia, Respiratory distress, Prominent superficial veins, Joint laxity, Dyspnea, Osteoporosi... ORPHA:363705
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Short philtrum,... ORPHA:439822
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... OMIM:311200
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ... OMIM:259420
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Redundant skin, High, narrow palate, Abnormal finger morphology, Symphalan... ORPHA:2658
Brittle Cornea Syndrome 1
Joint laxity, Atypical scarring of skin, Molluscoid pseudotumors, Palmoplantar cutis laxa, Dentin... OMIM:229200
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Poor wound healing, Chronic mucocutaneous candidiasis, Skin ulcer, Gingivitis, Per... OMIM:116920
Diaphanospondylodysostosis
Respiratory distress, Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentat... ORPHA:66637
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Scaling skin, Ecchymosis, Infect... ORPHA:36234
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Proximal placement of thumb, Micrognathia, Preaxial hand polydactyly, Deep ... OMIM:610536
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Hyperkeratosis, Ichthyosis, Aspiration, Dry skin OMIM:610768
Short Syndrome
Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Abnormality of the dentition, ... ORPHA:3163
Stevens-Johnson Syndrome
Macule, Acantholysis, Dyspnea, Erythema, Restrictive ventilatory defect, Conjunctivitis, Cough, P... ORPHA:36426
Ameloonychohypohidrotic Syndrome
Seborrheic dermatitis, Marked delay in eruption of permanent teeth, Yellow-brown discoloration of... OMIM:104570
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Acanthosis nigricans... OMIM:248370
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Joint laxity, Scapular winging, Micrognathia, Thickened skin, Dental malocclusion, Lo... ORPHA:73223
Leprosy
Urticarial plaque, Hypopigmented macule, Autoamputation of digits, Epistaxis, Skin nodule, Penetr... ORPHA:548
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Low-set, posteriorly rotated ears, Lipoatrophy,... ORPHA:1133
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Joint laxity, Uplifted earlobe, Narrow palate, Short upper lip, Thick verm... ORPHA:364028
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Syndactyly, Neonatal respiratory distress, Redundant neck skin, Abnormal pi... OMIM:217980
Trichothiodystrophy 1, Photosensitive
Macrotia, Flexion contracture, Absence of subcutaneous fat, Retrognathia, Asthma, Protruding ear,... OMIM:601675
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Pruritus, Sensorineural hearing impairment, Asthma, Short toe, Cone-shaped epiphyses ... OMIM:619269
Cranioectodermal Dysplasia 3
Joint laxity, Rhizomelia, Sandal gap, Sagittal craniosynostosis, Micrognathia, 2-4 toe syndactyly... OMIM:614099
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Apnea, Single tr... OMIM:619503
Infantile Digital Fibromatosis
Hyperkeratosis, Skin nodule, Parakeratosis ORPHA:199267
Congenital Disorder Of Glycosylation, Type If
Flexion contracture, Hyperkeratosis, Thin vermilion border, Scaling skin, Erythroderma, Dry skin OMIM:609180
Nodular Non-Suppurative Panniculitis
Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Erythema, Panniculitis, Inflammatory abnorma... ORPHA:33577
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Macroglossia, High pala... ORPHA:254864
Arterial Tortuosity Syndrome
Respiratory distress, Redundant skin, Coxa vara, Clinodactyly of the 5th finger, Femoral hernia, ... ORPHA:3342
Osteogenesis Imperfecta, Type X
Osteopenia, Respiratory distress, Inguinal hernia, Chronic lung disease, Rhizomelia, Short femur,... OMIM:613848
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, External ear malforma... ORPHA:438216
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphol... ORPHA:96263
Lig4 Syndrome
Telangiectasia of the skin, Micrognathia, Erythema, Thin vermilion border, Clinodactyly of the 5t... ORPHA:99812
Plague
Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Localized skin les... ORPHA:707
Cockayne Syndrome A
Mandibular prognathia, Hip contracture, Reduced subcutaneous adipose tissue, Abnormal pinna morph... OMIM:216400
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Recurrent pneumonia, Tachypnea, Dyspnea, Res... ORPHA:60032
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Joint laxity, Inguinal hernia, Ulnar deviation of the wrist, Grayish ename... OMIM:253000
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... OMIM:200990
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Ohdo Syndrome
Joint laxity, Hearing impairment, Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widel... OMIM:249620
Ullrich Congenital Muscular Dystrophy 1
Joint laxity, Increased laxity of fingers, Respiratory insufficiency due to muscle weakness, Dist... OMIM:254090
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... ORPHA:3258
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Micrognathia, Premature graying of hair, High palate, Short palm, Microdon... OMIM:268400
Koolen-De Vries Syndrome
Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Abnormality of the dentition... ORPHA:96169
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Flexion contracture of finger, Poor wound healing, Unilateral deafness, Facial erythema, Palmopla... ORPHA:1010
Stimmler Syndrome
Microdontia, Abnormal dental enamel morphology ORPHA:3199
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Enamel hypoplasia, Skin ulcer, Amelogenesis imperfecta OMIM:245660
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Cutis marmorata, Glomerulonephritis, Lymphocytic interstitial... ORPHA:289390
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Abnormal dental enamel morphology, Elbow dislocation, Aplasia/Hypoplasia of the middle ear, Atres... ORPHA:3236
Pituitary Adenoma 4, Acth-Secreting
Poor wound healing, Osteoporosis, Facial erythema, Thin skin, Ecchymosis, Bruising susceptibility... OMIM:219090
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Thickened skin, Subcutaneous nodule, Skin ulcer, Protruding ear, Panniculitis, Thick vermilion bo... ORPHA:2526
Orofaciodigital Syndrome Type 1
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Chronic otitis media, ... ORPHA:2750
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Skin tags, Respiratory distress, Central apnea, Rhizomelia, Redundant skin, Acanthosis nigricans,... OMIM:616482
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia, Micrognathia, Conductive hearing impairment, Aglossia, Clef... OMIM:202650
Linear Verrucous Nevus Syndrome
Short metacarpal, Toe syndactyly, Verrucous papule, Reduced bone mineral density, Hyperkeratosis ORPHA:2611
Bethlem Myopathy
Hypoventilation, Reduced maximal expiratory pressure, Multiple joint contractures, Scapular wingi... ORPHA:610
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, High palate, Low-set ears, ... ORPHA:2180
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... ORPHA:1145
Restrictive Dermopathy 2
Microretrognathia, Respiratory distress, Cyanosis, Thickened skin, Hypoplastic facial bones, Scle... OMIM:619793
Kikuchi-Fujimoto Disease
Macule, Erythematous macule, Skin rash, Pruritus, Pustule, Skin nodule, Erythema, Myocarditis, Or... ORPHA:50918
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Thin upper lip vermilion, Long philtrum OMIM:614741
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Macule, Fasciitis, Myositis, Skin rash, Hypermelanotic macule, Pericarditis, Orchitis, Peritoniti... ORPHA:32960
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Hearing impairment, Micrognathia, Tapered finger, Macrotia, Narrow palate, Hypoplasia of teeth, W... OMIM:620250
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Anterior uveitis, Inflammatory abnormality of the skin, Respiratory failure... ORPHA:95455
Proteasome-Associated Autoinflammatory Syndrome 1
Adipose tissue loss, Flexion contracture, Premature graying of hair, Conjunctivitis, Acanthosis n... OMIM:256040
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Dentinogenesis imperfecta, Decreased calvarial ... OMIM:259440
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Inguinal hernia, Tapered finger, Sensorineural hearing impairment, Flexion ... ORPHA:544503
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Malar flattening, Enamel h... OMIM:618874
Qazi-Markouizos Syndrome
Tapered finger, High, narrow palate, Hypoplasia of teeth, Delayed ossification of carpal bones, O... ORPHA:3010
Choanal Atresia
Respiratory distress, Cyanosis, Craniosynostosis, Upper airway obstruction, Polydactyly, Tracheom... ORPHA:137914
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... OMIM:613736
49,Xxxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Pulmonary em... ORPHA:96264
Aicardi-Goutieres Syndrome 1
Chilblains, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Flexion contracture, Palmoplantar hyperkeratosis, Ichthyosis, Congenital ichthyosi... OMIM:242300
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Erythema, Epididymitis, Oral ulcer, Arthritis, Iritis OMIM:109650
Hereditary Spherocytosis
Maculopapular exanthema, Jaundice, Gout, Skin ulcer, Pallor ORPHA:822
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion ORPHA:50251
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Joint laxity, Inguinal hernia, Ulnar deviation of the wrist, Grayish ename... OMIM:253010
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Abnormal dental morphology, Abnormal dental enamel m... ORPHA:1458
Sunct Syndrome
Flushing, Rhinorrhea, Facial erythema ORPHA:57145
Rubinstein-Taybi Syndrome 1
Respiratory distress, Dental crowding, Single transverse palmar crease, Micrognathia, Hypoplasia ... OMIM:180849
Pfeiffer Syndrome Type 2
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... ORPHA:93259
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Abnormal dental enamel morphology ORPHA:231169
Cushing Disease
Plethora, Dorsocervical fat pad, Acne, Poor wound healing, Intra-oral hyperpigmentation, Osteopor... ORPHA:96253
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Apnea, Micrognathia, Deep phil... ORPHA:314655
Cerebellofaciodental Syndrome
Single transverse palmar crease, Tapered finger, Dental malocclusion, Shortening of all distal ph... OMIM:616202
Singleton-Merten Syndrome 2
Osteopenia, Hyperkeratosis, Psoriasiform lesion, Osteolytic defects of the phalanges of the hand OMIM:616298
Diaphanospondylodysostosis
Delayed vertebral ossification, Respiratory distress, Inguinal hernia, Absent in utero ossificati... OMIM:608022
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Complex Regional Pain Syndrome
Edema of the upper limbs, Erythema, Dry skin ORPHA:83452
Osteoglophonic Dysplasia
Mandibular prognathia, Osteopenia, Respiratory distress, Hypoplasia of the maxilla, Short metatar... OMIM:166250
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Respiratory distress, Rocker bottom foot, Low-set ears, Adducted thumb ORPHA:89844
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Temtamy Syndrome
Dental crowding, Micrognathia, Hypoplasia of teeth, Short 2nd toe, Talipes equinovarus, Low-set e... OMIM:218340
Meier-Gorlin Syndrome 1
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Cutaneous fin... OMIM:224690
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Cutis laxa, Scaling skin, Generalized ichthyosis, Eclabion, Dry skin, Generalized hyperkeratosis ORPHA:2269
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperostosis, Pulp calcification, Taurodontia, Subperiosteal bone formation, Enamel hypoplasia OMIM:211900
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, High palate, Pneumonia ORPHA:596
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Abnormal palmar dermatoglyphics, Neonatal asphyxia, Cleft palate, Hypoplasia of teeth, Microtia, ... ORPHA:2728
Celiac Disease, Susceptibility To, 1
Eczema, Osteoporosis, Thyroiditis, Rickets, Recurrent aphthous stomatitis, Stomatitis, Enamel hyp... OMIM:212750
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Inguinal hernia, Sandal gap, Abnormal dental enamel morphology, Retrognathia, Cleft palate, Abnor... ORPHA:1812
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Everted upper lip vermilion, Abnormal oral mucosa morphology, Eczema, Conic... OMIM:305100
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... ORPHA:264675
Amoebiasis Due To Free-Living Amoebae
Abnormality of taste sensation, Unusual skin infection, Sinusitis, Stiff neck, Pneumonia, Pustule... ORPHA:68
Ctcf-Related Neurodevelopmental Disorder
Osteopenia, Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger,... ORPHA:363611
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Erythema, Flexion contracture, Generalized lipodystrophy, Panniculitis OMIM:619183
Stüve-Wiedemann Syndrome
Osteopenia, Respiratory distress, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K... ORPHA:3206
Dysostosis, Stanescu Type
Increased bone mineral density, Bowing of the long bones, Abnormal dental enamel morphology, Micr... ORPHA:1798
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Respiratory distress, Arachnodactyly, Rocker bottom foot, Multiple prenatal fractures... OMIM:271225
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Respiratory distress, Cholangitis, Pulmonary embolism, Colitis, Pallor, Cough, Pap... ORPHA:3260
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Stapes ankylosis, Syndactyly, Brachydactyly, Single transverse palmar c... OMIM:614701
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Uveitis, Conjunctivitis, Papule, Abnormal dental enamel morphology, Scleritis, Urticaria, Ichthyo... ORPHA:2273
Mucopolysaccharidosis Type 4
Bowing of the long bones, Abnormal dental enamel morphology, Abnormality of the dentition, Cariou... ORPHA:582
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... OMIM:252100
Hidrotic Ectodermal Dysplasia, Halal Type
Protruding ear, Follicular hyperkeratosis, Multiple cafe-au-lait spots, Retrognathia, Hearing imp... ORPHA:1809
Noonan Syndrome 8
Eczema, Hyperkeratosis, Low-set ears, Palmoplantar cutis laxa, Pleural effusion OMIM:615355
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Limited elbow movement, Pierre-Robin sequence, Cleft palate, Coxa vara, Res... OMIM:183900
Succinic Acidemia
Respiratory distress OMIM:600335
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Respiratory distress, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplasia of t... OMIM:617895
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough OMIM:263000
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis, Multiple lentigines, Cafe-au-l... OMIM:145250
Codas Syndrome
Delayed eruption of teeth, Omphalocele, Short metacarpal, Short humerus, Metaphyseal dysplasia, P... OMIM:600373
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Wide mouth,... ORPHA:163966
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Posterior blepharitis, Palmoplantar hyperkeratosis, Hype... OMIM:300918
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Thin upper lip vermilion, Respiratory distress, Micrognathia, Deep philtrum, Dental m... ORPHA:329178
Lacrimoauriculodentodigital Syndrome
Micrognathia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal salivary glan... ORPHA:2363
Hidrotic Ectodermal Dysplasia
Abnormal metacarpophalangeal joint morphology, Thickened skin, Palmoplantar hyperkeratosis, Clubb... ORPHA:189
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, Protruding tongue, Bil... OMIM:619777
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Vertebral fusion, Vaginal hernia, Macrodontia, Abnormal dental enamel morp... ORPHA:2916
Coccidioidomycosis
Urticarial plaque, Respiratory distress, Verrucous papule, Morbilliform rash, Cough, Papule, Broa... ORPHA:228123
Squamous Cell Carcinoma Of The Anal Canal
Skin ulcer ORPHA:424019
Moynahan Syndrome
Hyperkeratosis, Sensorineural hearing impairment ORPHA:2574
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Netherton Syndrome
Parakeratosis, Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, Angioedema, Urticari... OMIM:256500
Tempi Syndrome
Hypoxemia, Transudative pleural effusion, Telangiectasia, Facial erythema ORPHA:284227
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d... ORPHA:861
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Sensorineural hearing impairment OMIM:616974
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Hand mu... OMIM:211530
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Otitis media, Ciliary dyskinesia... OMIM:606763
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Cyanosis, Red... OMIM:610913
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Camptodactyly of finger, Abnormal dental enamel morphology, Abnormality of the dentition, Sensori... ORPHA:3220
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Mixed hearing impairment, Posteriorly rotated ears, Congenital diaphragmati... OMIM:606164
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Abnormal dental morphology, Scarring, Recurrent skin infections, Abnormality of the ... ORPHA:158668
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, High palate, Conductive hearing impair... OMIM:218600
Arboleda-Tham Syndrome
Mandibular prognathia, Respiratory distress, Anteverted ears, Downturned corners of mouth, Short ... OMIM:616268
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Abnormality of the dentition, Wide mouth, Prominent antihelix, Enamel hypoplasia, Macrotia, Bifid... OMIM:615802
Irida Syndrome
Hyperkeratosis, Pallor, Ichthyosis ORPHA:209981
Neuropathy, Hereditary Sensory And Autonomic, Type V
Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury, Acral ulcer... OMIM:608654
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Hearing impairment OMIM:616733
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Sacral dimple, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morph... ORPHA:2556
Neonatal Inflammatory Skin And Bowel Disease
Chapped lip, Recurrent bacterial skin infections, Psoriasiform dermatitis, Pustule, Erythema, Sca... ORPHA:294023
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Trichothiodystrophy 2, Photosensitive
Congenital nonbullous ichthyosiform erythroderma, Cutaneous photosensitivity, Agenesis of maxilla... OMIM:616390
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera... OMIM:307800
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
High-frequency hearing impairment, Tinnitus, Dentinogenesis imperfecta, Bilateral sensorineural h... OMIM:605594
Gcgr-Related Hyperglucagonemia
Stomatitis, Necrolytic migratory erythema ORPHA:438274
W Syndrome
Hypoplasia of the ulna, Radial bowing, Acne, Elbow dislocation, Metatarsus adductus, Clinodactyly... ORPHA:2804
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis, Subcutaneous nodule OMIM:618339
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Ectodermal dysplasia, Palmoplantar keratoderma, Chronic rhinitis, Follicular hyper... OMIM:615225
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Abnormal oral mucosa morphology, Micromelia, Abnormality of the dentit... ORPHA:289
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... OMIM:601216
Ear-Patella-Short Stature Syndrome
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Clino... ORPHA:2554
Campomelic Dysplasia
Respiratory distress, Irregular dentition, Apnea, Anterior tibial bowing, Micrognathia, Delayed e... OMIM:114290
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Numerous nevi, Micrognathia, Deep philtrum, ... OMIM:115150
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Sensorineural hearing impairment, Hyperkeratosis, Ichthyosis, Acanthosis nigricans... OMIM:618527
Tetanus
Respiratory distress, Stiff neck, Trismus, Localized skin lesion, Tachypnea ORPHA:3299
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Iridocyclitis, Chronic mucocutaneous candidiasis, K... OMIM:240300
Malaria
Respiratory distress ORPHA:673
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Hypophosphatemic Rickets, Autosomal Recessive, 2
Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Hypophosphatemic rickets, Genu varum OMIM:613312
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia, Cellulitis, Subcutaneous hemorrhage ORPHA:238459
Achondroplasia
Respiratory distress, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Limited hip extensio... OMIM:100800
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma OMIM:133200
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
X-Linked Hypophosphatemia
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ... ORPHA:89936
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... OMIM:601952
Donohue Syndrome
Hypermelanotic macule, Adipose tissue loss, Thick lower lip vermilion, Gingival overgrowth, Wide ... OMIM:246200
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Subcutaneous nodule, Lip telangiec... ORPHA:79280
Pili Torti
Abnormal dental enamel morphology, Hearing impairment, Abnormality of the dentition ORPHA:2889
Hall-Riggs Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Downturned corners... ORPHA:2107
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsal, Oligodontia, Foot oligoda... OMIM:305600
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Hand clenching ORPHA:240103
Pfeiffer Syndrome Type 3
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... ORPHA:93260
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Joint laxity, Sacral dimple, Posteriorly rotated ears, Postaxial polydactyl... OMIM:300968
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint laxity, Inguinal hernia, Dental crowding, Arachnodactyly, Poor wound healing, R... OMIM:225400
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Tented upper lip vermilion, Overlapping toe, Flexion contracture, High pala... OMIM:619383
Insensitivity To Pain, Congenital, With Anhidrosis
Autoamputation of digits, Osteomyelitis, Poor wound healing, Keratitis, Corneal scarring, Acral u... OMIM:256800
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Seckel Syndrome
Sandal gap, Abnormal dental enamel morphology, Craniosynostosis, Micrognathia, Prematurely aged a... ORPHA:808
Folinic Acid-Responsive Seizures
Respiratory distress, Sensorineural hearing impairment, Apnea ORPHA:79097
Synaptic Congenital Myasthenic Syndromes
Mandibular prognathia, Hypoventilation, Respiratory distress, Neonatal respiratory distress, Scap... ORPHA:98915
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Chitayat Syndrome
Respiratory distress, Hallux valgus, Thick vermilion border, Tracheomalacia, Brachydactyly OMIM:617180
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Brachydactyly, Tented upper lip vermilion, Exaggerated cupid's bow, Small earlobe, Abnormality of... ORPHA:364577
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogeusia, Dry skin, Perianal erythema, Perioral erythema OMIM:201100
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Recurrent fractures, Coxa vara, Increased susceptibility to fractures, ... OMIM:610968
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Abnormal dental enamel morphology, Patchy osteosclerosis, Abno... ORPHA:2323
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Osteoarthritis, Flexion contra... ORPHA:666
Cole-Carpenter Syndrome 1
Osteopenia, Recurrent fractures, Micrognathia, Reduced bone mineral density, Microdontia, Coronal... OMIM:112240
Immunodeficiency 9
Respiratory insufficiency due to muscle weakness, Ectodermal dysplasia, Recurrent aphthous stomat... OMIM:612782
Radio-Renal Syndrome
Respiratory distress, Micromelia, Micrognathia, High, narrow palate, Dyspnea, Hypoplasia of the r... ORPHA:3015
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Triceps weakness, Cough ORPHA:86812
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Hermansky-Pudlak Syndrome
Epistaxis, Abnormal dental enamel morphology, Dyspnea, Thickened skin, Melanocytic nevus, Hyperke... ORPHA:79430
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border, Hearing i... OMIM:620114
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... ORPHA:50814
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis, Telangiectasia, Telangiectasia of the skin, Hearing impairment ORPHA:79279
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Radial bowing, Rhizomelia, Micromelia, Dumbbell-shaped long bone, Decreased... OMIM:151210
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Porokeratosis, Abnormal dental morphology, Abnormal dental enamel morphology, Eczema, Micrognathi... ORPHA:85199
Hypotrichosis With Juvenile Macular Degeneration
Hyperkeratosis, Abnormal limb bone morphology, Melanocytic nevus ORPHA:1573
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Nipah Virus Disease
Respiratory distress, Infectious encephalitis, Cough ORPHA:99825
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Conical tooth, M... ORPHA:1071
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... OMIM:610978
Parkes Weber Syndrome
Abnormal femoral metaphysis morphology, Prominent superficial blood vessels, Skin ulcer, Erythema... ORPHA:90307
Cardiofaciocutaneous Syndrome 3
Wide mouth, Hyperkeratosis, Reduced bone mineral density OMIM:615279
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Localized skin lesion, V... ORPHA:91139
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory f... ORPHA:178320
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Comedonal acne, Follicular hyperkeratosis OMIM:615147
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Retrognathia, Sudden episodic apnea ORPHA:466722
Doors Syndrome
Respiratory distress, Short lingual frenulum, Abnormal finger morphology, Downturned corners of m... ORPHA:79500
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Protruding ear, High palate... OMIM:268305
3M Syndrome
Delayed eruption of teeth, Hypoplasia of the ulna, Scapular winging, Abnormal dental enamel morph... ORPHA:2616
Neonatal Lupus Erythematosus
Parakeratosis, Maculopapular exanthema, Skin rash, Hyperkeratosis, Erythematous plaque, Cutaneous... ORPHA:398124
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, C... OMIM:610921
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... ORPHA:1946
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Erythema, Skin rash, Bilateral sensorineural hearing impairment OMIM:618321
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Recurrent fractures, Reduced bone mineral density, Increased susceptibility to frac... OMIM:166220
Nestor-Guillermo Progeria Syndrome
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro... OMIM:614008
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
Cockayne Syndrome B
Mandibular prognathia, Reduced subcutaneous adipose tissue, Abnormal pinna morphology, Prematurel... OMIM:133540
Familial Mediterranean Fever
Pericarditis, Skin rash, Orchitis, Pancreatitis, Osteoarthritis, Erythema, Peritonitis, Arthritis... ORPHA:342
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Thin upper lip vermilion, Sandal gap, High, narrow palate, Submucous cleft ... OMIM:612863
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Keratitis, Sensorineural hearing impairment, Elbow flexion c... OMIM:148210
Lymphatic Malformation 4
Hyperkeratosis, Prominent superficial veins, Cellulitis OMIM:615907
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hip contracture, Scapular winging, Tented upper lip vermilion, Dental crowd... OMIM:620369
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, High palate, Otitis media, Conductive hearing impairment, Aspirati... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, High palate, Otitis media, Conductive hearing impairment, Aspirati... ORPHA:353277
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Thin upper lip vermilion, Short humerus, Short femur, Abnormal pinna morpho... OMIM:607143
Cardiofaciocutaneous Syndrome
Low-set, posteriorly rotated ears, Redundant skin, Thickened helices, Abnormal morphology of ulna... ORPHA:1340
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Respiratory distress, Narrow mouth, Mandibular aplasia, Microg... ORPHA:990
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Omphalocele, Psoriasiform dermatitis, Enterocolitis, Interface hepatitis, Enamel hypoplasia OMIM:243150
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Joint laxity, Natal tooth, Dental crowding, Pneumonia, Broad hallux, Carious teeth, Avascular nec... ORPHA:353281
Usher Syndrome Type 2
Abnormality of dental color, Abnormal dental enamel morphology, Carious teeth, Sensorineural hear... ORPHA:231178
Junctional Epidermolysis Bullosa With Pyloric Atresia
Recurrent skin infections, Oral mucosal blisters, Urinary bladder inflammation, Aplasia cutis con... ORPHA:79403
Congenital Myasthenic Syndrome
Microretrognathia, Joint laxity, Cyanosis, Sudden episodic apnea, Intermittent episodes of respir... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Microretrognathia, Joint laxity, Cyanosis, Sudden episodic apnea, Intermittent episodes of respir... ORPHA:98914
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod... OMIM:148700
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Foot joint contracture, Single transverse palmar crease, Micrognathia, Tapered f... ORPHA:444072
Nocardiosis
Respiratory distress, Lymphadenitis, Nonproductive cough, Subcutaneous nodule, Conjunctivitis, Em... ORPHA:31204
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Syndactyly, Narrow joint spaces of the elbow, Dental crowding, Shoulder dimple, Micrognathia, Hig... ORPHA:96182
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Farber Disease
Respiratory distress, Abnormality of the hand, Short toe, Flexion contracture, Osteoporosis, Abno... ORPHA:333
Heimler Syndrome 2
Sensorineural hearing impairment, Dental crowding, Amelogenesis imperfecta OMIM:616617
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Micrognathia, Downturned corners of mouth, High palate, Clinodactyly of the... ORPHA:177907
Rodrigues Blindness
Ectodermal dysplasia, Tooth malposition, Nasal flaring, Protruding ear OMIM:268320
Esophageal Atresia
Omphalocele, Respiratory distress, Cyanosis, Cleft lip, Clinodactyly, Episodic respiratory distre... ORPHA:1199
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Holocarboxylase Synthetase Deficiency
Respiratory distress, Eczema, Tachypnea, Keratoconjunctivitis, Perioral eczema ORPHA:79242
Proteus Syndrome
Pulmonary embolism, Subcutaneous nodule, Abnormal finger morphology, Clinodactyly of the 5th fing... ORPHA:744
Diamond-Blackfan Anemia 10
Respiratory distress, Posteriorly rotated ears, Congenital diaphragmatic hernia, Morgagni diaphra... OMIM:613309
Fabry Disease
Conjunctival telangiectasia, Telangiectasia of the skin, Angiokeratoma, Dyspnea, Sensorineural he... ORPHA:324
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Hashimoto thyroiditis ORPHA:97285
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Parakeratosis, Inguinal hernia, Superficial dermal perivascular inflammator... ORPHA:83617
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Protruding ear, Widely spac... OMIM:612474
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Subungual hyperkeratosis, Inguinal hernia, Ichthyosis follicularis, Perianal erythem... OMIM:308205
Cockayne Syndrome
Reduced subcutaneous adipose tissue, High-frequency sensorineural hearing impairment, Abnormal de... ORPHA:191
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta OMIM:615905
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Underdeveloped superior crus of antihelix, Broad hallux, Overlapping toe, Micrognathia, Congenita... ORPHA:293967
Cole-Carpenter Syndrome 2
Microretrognathia, Osteopenia, Recurrent fractures, High palate, Lambdoidal craniosynostosis, Cor... OMIM:616294
Jalili Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:1873
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Posteriorly rotated ears, Micrognathia, Hyperkeratosis, Multiple enchondromatosis, Hammertoe, Nev... OMIM:620189
Reactive Arthritis
Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Cartilage destruction, Respiratory insuffi... ORPHA:29207
Adnp Syndrome
Respiratory distress, Single transverse palmar crease, Abnormal finger morphology, Protruding ear... ORPHA:404448
Autoinflammation With Arthritis And Dyskeratosis
Thyroiditis, Uveitis, Palmoplantar hyperkeratosis, Keratoconjunctivitis sicca, Follicular hyperke... OMIM:617388
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Foot osteomyelitis, Acral ulceration OMIM:256840
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutis marmorata, Recurrent pneumonia, Clubbing, Bronchiectasis, Corneal scarring, Hyperkeratosis,... OMIM:301220
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Posteriorly rotated ears, Sensorineural hearing impairment, Knee flexion co... OMIM:618733
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Preaxial polydactyly, Conical incisor, Radial deviation of the 3rd finge... OMIM:149730
Q Fever
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditi... ORPHA:781
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Mandibular prognathia, Reduced subcutaneous adipose tissue, Membranoproliferative glomerulonephri... OMIM:137940
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Apnea, Pneumonia, Intercostal retractions, Productive co... ORPHA:95430
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Autoamputation of digits, Jaundice, Osteomyelitis leading to amputation due... OMIM:256810
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Peters-Plus Syndrome
Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Micrognathia, Hy... OMIM:261540
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent skin infections, Pneumonia, Abnormality of the dentiti... ORPHA:2968
Branchioskeletogenital Syndrome
Mandibular prognathia, Attached earlobe, Hypoplasia of the maxilla, Upper limb peromelia, Downtur... ORPHA:1299
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Narrow mouth... OMIM:614748
Trichodental Dysplasia
Odontodysplasia, Hypodontia, Conical tooth OMIM:601453
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Single transverse palma... OMIM:616788
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Inguinal hernia, Short metacarpal, Radial bowing, Recurrent fractures, ... OMIM:610915
Sialidosis Type 1
Sensorineural hearing impairment, Thick lower lip vermilion, Hyperkeratosis, Hernia, Vascular ski... ORPHA:812
Lujo Hemorrhagic Fever
Respiratory distress, Stiff neck, Skin rash, Maculopapular exanthema, Crackles, Myocarditis, Fulm... ORPHA:319213
Tay-Sachs Disease
Aspiration, Pallor OMIM:272800
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Mednik Syndrome
Sensorineural hearing impairment, Erythema, Ichthyosis OMIM:609313
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Cutaneous finger syndactyly, High palate, Bifid... OMIM:211380
Trichothiodystrophy 7, Nonphotosensitive
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis OMIM:618546
Listeriosis
Respiratory distress, Unusual skin infection, Pericarditis, Osteomyelitis, Stiff neck, Pneumonia,... ORPHA:533
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough ORPHA:142
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Pancreatitis ORPHA:289916
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Inflammatory abnormality of the skin, Psoriasiform dermatitis, Recurrent sk... ORPHA:37042
22Q11.2 Deletion Syndrome
Micrognathia, Short philtrum, Conductive hearing impairment, Chronic otitis media, Small earlobe,... ORPHA:567
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Jaundice, Enterocolitis, Abnorm... ORPHA:90051
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Spontaneous, recurrent epistaxis, Poor wound healing, Sensorineural hearing impair... ORPHA:2072
Mgat2-Cdg
Low-set, posteriorly rotated ears, Osteopenia, Respiratory distress, Dental crowding, Posteriorly... ORPHA:79329
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Respiratory failure, Tachypnea, Respiratory insufficiency OMIM:614299
Ramos-Arroyo Syndrome
Respiratory distress, Shoulder dimple, Carious teeth, Narrow mouth, Keratitis, Smooth tongue, Bil... ORPHA:1051
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Osteomalacia, Wrist swelling, Subcutaneous nodule, Rickets, Corneal scar... OMIM:309000
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Micrognathia, High palate, Conductive hearing impairment, Arachnodactyly, Poor wound ... ORPHA:536545
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Thickened skin, Metaphyseal widening, Flexion contracture, Recurrent pneumo... OMIM:617303
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Retrognathia, High palate, Joint hypermobility OMIM:300219
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Cyanosis, Hypoxemia ORPHA:464453
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Pancreatitis ORPHA:79312
Cushing Syndrome Due To Ectopic Acth Secretion
Plethora, Dorsocervical fat pad, Acne, Poor wound healing, Intra-oral hyperpigmentation, Osteopor... ORPHA:99889
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, High palate, Inspiratory stridor, Irregular respiration OMIM:604377
Kilquist Syndrome
Mandibular prognathia, Coxa valga, 2-3 toe syndactyly, Hypoplasia of teeth, Wide mouth, Bilateral... OMIM:619080
Turnpenny-Fry Syndrome
Mandibular prognathia, Numerous nevi, Dental crowding, Prominent interphalangeal joints, Downturn... OMIM:618371
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Noonan Syndrome 2
Posteriorly rotated ears, Micrognathia, Cubitus valgus, Hyperkeratosis, High palate, Low-set ears... OMIM:605275
Kanzaki Disease
Telangiectasia of the oral mucosa, Sensorineural hearing impairment, Thick lower lip vermilion, L... OMIM:609242
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Progressive hearing impairment OMIM:620166
Oromandibular Dystonia
Respiratory distress, Abnormal lip morphology, Abnormality of the temporomandibular joint, Abnorm... ORPHA:93958
Melas
Pulmonary arterial hypertension, Sensorineural hearing impairment, Erythema, Recurrent pancreatitis ORPHA:550
Hyperparathyroidism, Transient Neonatal
Osteopenia, Respiratory distress, Inguinal hernia, Short femur, Metaphyseal spurs, Recurrent frac... OMIM:618188
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Joint laxity, Carious teeth, Cle... OMIM:607812
Kawasaki Disease
Pericarditis, Skin rash, Myocarditis, Jaundice, Cheilitis, Hepatitis, Arthritis, Conjunctivitis, ... ORPHA:2331
Lymphatic Malformation 12
Neonatal respiratory distress, Hyperkeratosis, Inguinal hernia OMIM:620014
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
High-frequency sensorineural hearing impairment, Osteopenia, Inguinal hernia, Mixed hearing impai... OMIM:614557
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Bowed humerus, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Reduce... OMIM:616507
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension, Postaxial hand polydactyly, Redundant neck... ORPHA:2519
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Abnormal soft palate morphology, Dyspnea, Urticaria, Dermatog... ORPHA:100050
Ogden Syndrome
Redundant neck skin, Apnea, Redundant skin, Micrognathia, Deep philtrum, Protruding ear, Short ph... OMIM:300855
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Joint laxity, Inguinal hernia, Posteriorly rotated ears, Eczema, Hyperkeratosis, D... OMIM:607721
Halperin-Birk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Aspiration, ... OMIM:618651
Episodic Ataxia Type 1
Respiratory distress, Hand clenching ORPHA:37612
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Oral leukoplakia, Follicular hyperkeratosis OMIM:148500
Cockayne Syndrome Type 3
Carious teeth, Flexion contracture, Premature graying of hair, Keratoconjunctivitis sicca, Cutane... ORPHA:90324
Mogs-Cdg
Respiratory distress, Absent brainstem auditory responses, Hypoventilation, Apnea, Sensorineural ... ORPHA:79330
Angioedema, Hereditary, 1
Angioedema, Erythema OMIM:106100
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition ORPHA:757
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Progressive sensorineural hearing impairment, Enamel hypomineralization ORPHA:494444
Cole-Carpenter Syndrome
Delayed eruption of teeth, Bowing of the long bones, Abnormal dental enamel morphology, Recurrent... ORPHA:2050
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Rhizomelia, Micrognathia, Trismus, Brachioradialis areflexia, Flexion contr... OMIM:616271
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Conductive hearing impairment, Velopharyngeal insufficiency, No... ORPHA:199302
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Bilateral single transverse palmar creases, Micromelia, Long philtrum, Addu... ORPHA:50810
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Multiple joint contractures, Metaphyseal widening, Metaphyseal chondromatos... ORPHA:99646
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Congenital Diaphragmatic Hernia
Respiratory distress, Congenital diaphragmatic hernia, Hypoxemia ORPHA:2140
Jalili Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis OMIM:217080
Nasolacrimal Duct Cyst
Intercostal retractions, Chronic irritative conjunctivitis, Episodic respiratory distress, Strido... ORPHA:141083
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Hypopigmented skin patches,... ORPHA:206436
Isolated Atp Synthase Deficiency
Respiratory distress, Sensorineural hearing impairment ORPHA:254913
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Micrognathia, Proximal placement of thumb, Advanced eruption of ... ORPHA:818
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Flexion contracture, Generalized abnormality of skin, Respiratory insuffici... ORPHA:367
Noonan Syndrome 10
Hyperkeratosis, High palate, Low-set ears, Palmoplantar cutis laxa, Cubitus valgus, Pleural effus... OMIM:616564
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor, Ectodermal dysplasia, Molluscum contagiosum OMIM:300291
Opitz Gbbb Syndrome
Thin upper lip vermilion, Inguinal hernia, Posteriorly rotated ears, Cleft upper lip, Cleft palat... OMIM:300000
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Pneumonia, Chronic otitis media, Hypocalcification of dental enamel ORPHA:169090
Ramon Syndrome
Delayed eruption of teeth, Angiokeratoma, Gingival fibromatosis, Narrow palate, Telangiectasia, H... OMIM:266270
Cowden Syndrome
Macule, Brachydactyly, Subcutaneous nodule, Bone cyst, Hypopigmented skin patches, Melanocytic ne... ORPHA:201
Usher Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Carious teeth, Sensorineural hear... ORPHA:886
Naxos Disease
Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm... OMIM:601214
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Flexion contracture OMIM:618201
Schinzel-Giedion Syndrome
Respiratory distress, Micrognathia, Abnormality of the gingiva, Tibial bowing, Short philtrum, Hi... ORPHA:798
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Inguinal hernia, High palate OMIM:619272
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sensorineural hearing imp... OMIM:220110
Biotinidase Deficiency
Respiratory distress, Skin rash, Apnea, Hyperventilation, Sensorineural hearing impairment, Conju... ORPHA:79241
Monilethrix
Follicular hyperkeratosis, Abnormality of the dentition ORPHA:573
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Exaggerated cupid's bow, Downturned corners of mouth, Pallor, Aspira... ORPHA:2131
Fucosidosis
Lipoatrophy, Abnormality of the dentition, Vascular skin abnormality, Acrocyanosis, Generalized h... ORPHA:349
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi... OMIM:210710
Tetrasomy 9P
Myositis, Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short philtrum... ORPHA:3310
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Macrodactyly, Telangiectasia of the skin, Seborrheic dermatitis, 2-4 toe syndactyly,... ORPHA:276280
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Abnormality of the temporomandibular joint, Myositis, Protruding tongue, Increas... ORPHA:258
Scorpion Envenomation
Acute pancreatitis, Myocarditis, Erythema, Tachypnea, Abnormal nasal mucus secretion, Purpura ORPHA:466677
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Mandibular prognathia, Respiratory distress, Respiratory failure, High palate, Chylothorax, Joint... OMIM:620278
Stickler Syndrome
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Uveitis, Reduced bone mineral density, G... ORPHA:828
Chand Syndrome
Short fifth metatarsal, Bifid tongue, Cleft palate, Agenesis of permanent teeth, Abnormal oral fr... ORPHA:1401
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Osteopenia, Respiratory distress, Abnormal periodontium morphology, High palate, Low-set, posteri... ORPHA:480880
Primary Dystonia, Dyt4 Type
Respiratory distress, Movement abnormality of the tongue, Open mouth ORPHA:98805
Congenital Enterovirus Infection
Respiratory distress, Skin rash, Myocarditis, Hepatitis, Pleural effusion, Infectious encephalitis ORPHA:292
Trichothiodystrophy 4, Nonphotosensitive
Keratoconjunctivitis sicca, Macrotia, Retrognathia, Hypoplasia of teeth OMIM:234050
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Pneumonia, Episodic tachypnea, Jaundi... ORPHA:26793
Hereditary Mucoepithelial Dysplasia
Hyperkeratosis, Gingival overgrowth, Furrowed tongue ORPHA:1839
Stt3B-Cdg
Respiratory distress ORPHA:370924
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress OMIM:615597
Pallister-Killian Syndrome
Tented upper lip vermilion, Single transverse palmar crease, Congenital diaphragmatic hernia, Mic... OMIM:601803
Syndromic Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis ORPHA:281090
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Numerous nevi, Calcaneovalgus deformity, Protruding ear, Ectodermal dysplasi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Numerous nevi, Calcaneovalgus deformity, Protruding ear, Ectodermal dysplasi... ORPHA:363958
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Rhinorrhea, Erythematous oral mucosa, Recurrent pneumonia, Chronic mucocutaneous candi... OMIM:158310
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Pachyonychia Congenita 1
Oral leukoplakia, Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Carnitine Deficiency, Systemic Primary
Respiratory distress OMIM:212140
8Q24.3 Microdeletion Syndrome
Skin tags, Respiratory distress, Single transverse palmar crease, Micromelia, Naevus flammeus of ... ORPHA:508488
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Joint stiffness, Thickened skin, Flexion contracture, Stridor, Macroglossia... ORPHA:505248
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Restrictive Dermopathy 1
Natal tooth, Prominent superficial blood vessels, Limb joint contracture, Rocker bottom foot, Mic... OMIM:275210
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress, Metaphyseal sclerosis, Metaphyseal chondrody... OMIM:260400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Inguinal hernia, Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Cleft upper l... OMIM:129900
Restrictive Dermopathy
Osteopenia, Natal tooth, Multiple joint contractures, Camptodactyly of finger, Epidermal hyperker... ORPHA:1662
Glucagonoma
Skin rash, Necrolytic migratory erythema, Pruritus, Intermittent jaundice, Stomatitis, Glossitis,... ORPHA:97280
Pearson Marrow-Pancreas Syndrome
Punctate keratitis, Erythema, Pallor OMIM:557000
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Abnormal dental enamel morphology ORPHA:2238
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hyperkeratosis with erythema, Hypoplasia of the nasal bone, Knee flexion contrac... OMIM:118650
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis OMIM:175900
Singleton-Merten Syndrome 1
Osteopenia, Thin upper lip vermilion, Hypoplastic distal radial epiphyses, Coxa valga, Hypoplasia... OMIM:182250
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Tubulointerstitial nephritis, Pancreatitis OMIM:251000
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Flexion contra... ORPHA:365
Cryptococcosis
Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Peritonitis, Osteolysis, Cough, Pleural ... ORPHA:1546
Vipoma
Respiratory insufficiency due to muscle weakness, Erythema, Subcutaneous lipoma, Intermittent jau... ORPHA:97282
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Recurrent fractures, Abnormal dental enamel morphology,... ORPHA:251004
Pachyonychia Congenita 3
Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Folli... OMIM:615726
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Sensorineural hearing impairment, Recurrent ... ORPHA:209905
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Neonatal respiratory distress, Downturned corners of mouth, Hyperkeratosis, Short philtrum, Heari... OMIM:615510
Holoprosencephaly 9
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Postaxial hand polydact... OMIM:610829
De Sanctis-Cacchione Syndrome
Parakeratosis, Hypermelanotic macule, Keratitis, Sensorineural hearing impairment, Telangiectasia... OMIM:278800
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Uplifted earlobe... OMIM:619841
Japanese Encephalitis
Respiratory distress, Stiff neck, Elbow flexion contracture, Distal upper limb muscle weakness, R... ORPHA:79139
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Urachal Cyst
Peritonitis, Erythema ORPHA:488
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Hyperekplexia 1
Umbilical hernia, Inguinal hernia, Apnea, Aspiration OMIM:149400
Cutis Laxa, Autosomal Dominant 1
Inguinal hernia, Prematurely aged appearance, Redundant skin, Poor wound healing, Progeroid facia... OMIM:123700
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency due to muscle weakness, Jaundice, Respiratory ins... OMIM:615512
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Jaundice, Abnormal pinna morphology OMIM:231680
Milroy Disease
Hyperkeratosis, Erysipelas, Cellulitis ORPHA:79452
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Tyrosinemia Type 2
Hyperkeratosis, Palmoplantar keratoderma, Malar flattening ORPHA:28378
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Glomerulonephritis, Epistaxis, Dyspnea, Acute tubulointerstitial... ORPHA:340
Zollinger-Ellison Syndrome
Jaundice, Erythema, Multiple lipomas, Esophagitis, Lipoma ORPHA:913
Bosma Arhinia Microphthalmia Syndrome
Inguinal hernia, Paranasal sinus hypoplasia, Abnormal pinna morphology, Absent tragus, Cleft lip,... OMIM:603457
Williams Syndrome
Osteopenia, Redundant skin, Micrognathia, Protruding ear, Microdontia, Chronic otitis media, Clin... ORPHA:904
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor OMIM:615595
Schimke Immuno-Osseous Dysplasia
Wide capital femoral epiphyses, Hypermelanotic macule, Minimal change glomerulonephritis, Abnorma... ORPHA:1830
Spinocerebellar Ataxia 34
Erythroderma, Epidermal hyperkeratosis OMIM:133190
Multiple Endocrine Neoplasia Type 4
Esophagitis, Erythema, Confetti-like hypopigmented macules, Subcutaneous lipoma ORPHA:276152
Sympathetic Ophthalmia
Erythema, Posterior uveitis, Tinnitus, Hearing impairment ORPHA:79098
Rett Syndrome, Congenital Variant
Thin upper lip vermilion, Talipes equinovarus, Aspiration, Protruding ear OMIM:613454
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Hypoplasia of... OMIM:604292
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Median cleft lip, Accessory oral frenulum, Postaxial polydactyly, Supernume... OMIM:617088
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Short femur, Pneumothorax, Talipes equinovarus, Short tibia OMIM:620306
Immunodeficiency 10
Amelogenesis imperfecta OMIM:612783
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Short humerus, Short femur, Apnea, Sensorineural hearing impairment, Flexio... ORPHA:17
Congenital Disorder Of Glycosylation, Type Iim
Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v... OMIM:300896
Ulbright-Hodes Syndrome
Respiratory distress, Short humerus, Short metacarpal, Abnormal pinna morphology, Micrognathia, P... ORPHA:3404
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Single transverse palmar crease, Osteoporosis, Small hand, Intrinsic hand m... OMIM:615273
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Single transverse palmar crease, Sensorineura... ORPHA:466943
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea, Petechiae, Purpura ORPHA:2330
Lymphatic Filariasis
Glomerulonephritis, Orchitis, Lymphadenitis, Wheezing, Knee osteoarthritis, Epididymitis, Hyperke... ORPHA:2035
Amyotrophic Lateral Sclerosis 21
Respiratory insufficiency due to muscle weakness, Aspiration, Shoulder girdle muscle weakness, Ha... OMIM:606070
Tuberous Sclerosis 1
Dental enamel pits, Subcutaneous nodule, Gingival fibromatosis, Hypomelanotic macule, Cafe-au-lai... OMIM:191100
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Jaundice, Low-set ears, Stomatitis, Pulmonary arterial ... ORPHA:79282
Isolated Arrhinia
Respiratory distress, Microtia, Hypoplasia of the nasal bone, Absent nasal septal cartilage ORPHA:1134
Adenocarcinoma Of The Anal Canal
Skin ulcer ORPHA:424016
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Aspiration, Neonatal respiratory distress, Lipodystrophy, Hearing impairment OMIM:618922
Osteogenesis Imperfecta, Type Vii
Osteopenia, Rhizomelia, Recurrent fractures, Micromelia, Bowing of the legs, Femoral retroversion... OMIM:610682
Vocal Cord And Pharyngeal Distal Myopathy
Respiratory insufficiency due to muscle weakness, Aspiration, Distal upper limb amyotrophy, Shoul... ORPHA:600
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Elevated p... ORPHA:1329
Bilateral Perisylvian Polymicrogyria
Apnea, Protruding tongue, Micrognathia, Flexion contracture, Distal arthrogryposis, Aspiration, H... ORPHA:98889
Cocaine Intoxication
Respiratory distress, Glomerulonephritis, Wheezing, Tachypnea, Pneumothorax, Tubulointerstitial n... ORPHA:90068
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Premature loss of permanent teeth, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmo... OMIM:610644
Tuberous Sclerosis Complex
Respiratory distress, Epidermoid cyst, Respiratory failure, Confetti-like hypopigmented macules, ... ORPHA:805
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... OMIM:204690
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
6Q Terminal Deletion Syndrome
Low-set, posteriorly rotated ears, Hallux valgus, Joint laxity, Micrognathia, High, narrow palate... ORPHA:75857
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration, Flexion contracture ORPHA:2148
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:274150
Pontine Tegmental Cap Dysplasia
Aspiration, Sensorineural hearing impairment OMIM:614688
Knobloch Syndrome 2
Enamel hypoplasia, Micrognathia OMIM:618458
Split Cord Malformation
Talipes cavus equinovarus, Penetrating foot ulcers, Skin dimple, Talipes equinovarus, Lipoma ORPHA:573278
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea OMIM:115197
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Abnormal earlobe morphology... ORPHA:141127
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Macroglossia, Pleural effusion OMIM:261740
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea OMIM:618426
Familial Adenomatous Polyposis
Epidermoid cyst, Abnormality of the dentition, Localized skin lesion, Supernumerary tooth, Thyroi... ORPHA:733
Developmental And Epileptic Encephalopathy 38
Aspiration OMIM:617020
Ethylene Glycol Poisoning
Cyanosis, Gastritis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration ORPHA:31826
Colchicine Poisoning
Respiratory distress, Myocarditis, Cardiorespiratory arrest ORPHA:31824
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax OMIM:617300
Generalized Arterial Calcification Of Infancy
Respiratory distress, Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular ... ORPHA:51608
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Leprechaunism
Reduced subcutaneous adipose tissue, Thickened skin, Protruding ear, Hyperkeratosis, Large hands,... ORPHA:508
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Dyspnea, Sensorineural hearing impairment, Episodic respiratory distress, Hyperventilation ORPHA:255210
Gm2-Gangliosidosis, Ab Variant
Aspiration OMIM:272750
Gitelman Syndrome
Respiratory distress, Gout, Tubulointerstitial nephritis, Scleroderma, Tinnitus, Hashimoto thyroi... ORPHA:358
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Thickened skin ORPHA:79431
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Heterotaxy, Visceral, 1, X-Linked
Omphalocele, Respiratory distress, Cyanosis, Block vertebrae, Bilateral talipes equinovarus, Low-... OMIM:306955
Spinocerebellar Ataxia Type 8
Aspiration ORPHA:98760
Leptospirosis
Respiratory distress, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Optic neuritis, Coug... ORPHA:509
Scimitar Syndrome
Respiratory distress, Pneumothorax, Hernia, Cough, Pulmonary arterial hypertension ORPHA:185
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension ORPHA:210122
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Clubbing, Hypo... ORPHA:97214
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Jaundice OMIM:617156
Pmm2-Cdg
Mandibular prognathia, Thin upper lip vermilion, Pericarditis, Multiple joint contractures, Lipod... ORPHA:79318
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Amelogenesis imperfecta OMIM:248190
Aortic Arch Interruption
Respiratory distress, Tachypnea, Cyanosis, Exertional dyspnea ORPHA:2299
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy... ORPHA:99125
Proximal Renal Tubular Acidosis
Enamel hypomineralization, Reduced bone mineral density ORPHA:47159
Microphthalmia, Syndromic 1
Prominent fingertip pads, Syndactyly, Dental crowding, Abnormal pinna morphology, Abnormal palmar... OMIM:309800
Alström Syndrome
Respiratory distress, Abnormality of dental color, Gingivitis, Otitis media, Acanthosis nigricans... ORPHA:64
Johanson-Blizzard Syndrome
Joint laxity, Single transverse palmar crease, Sensorineural hearing impairment, Agenesis of perm... OMIM:243800
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Umbilical hernia, Hernia, Congenital diaphragmatic 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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