Not currently registered for phenotyping at IMPC

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

Gene Summary

laminin, gamma 2
nicein, 100kDa

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Lamc2 mutations

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

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

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

Disease Similarity of
Matching phenotypes Source
Intermediate Generalized Junctional Epidermolysis Bullosa
Milia, Enamel hypoplasia, Atrophic scars, Aplasia cutis congenita, Scarring alopecia of scalp, Or... ORPHA:79402
Severe Generalized Junctional Epidermolysis Bullosa
Mitten deformity, Enamel hypoplasia, Pneumothorax, Abnormal fingertip morphology, Erosion of oral... ORPHA:79404
Epidermolysis Bullosa, Junctional 3A, Intermediate
Oral mucosal blisters OMIM:619785
Epidermolysis Bullosa, Junctional 3B, Severe
Oral mucosal blisters OMIM:619786

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

Disease Similarity of
Matching phenotypes Source
Pruritic Urticarial Papules And Plaques Of Pregnancy
Facial erythema, Pruritis on hand, Palmoplantar erythema, Striae distensae, Skin vesicle, Urticar... ORPHA:64745
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Mitten deformity, Enamel hypoplasia, Skin vesicle, Hyperkeratotic papule, Localized skin lesion, ... ORPHA:79410
Porokeratosis Plantaris Palmaris Et Disseminata
Abnormal skin morphology of the palm, Hyperkeratotic papule, Annular cutaneous lesion, Porokerato... ORPHA:737
Chilblain Lupus
Finger swelling, Malar rash, Pruritis on hand, Inflammatory abnormality of the skin, Asthma, Skin... ORPHA:90280
Mal De Meleda
Flexion contracture, Ichthyosis, Inflammatory abnormality of the skin, Lichenoid skin lesion, Non... ORPHA:87503
Dowling-Degos Disease
Palmar pits, Skin vesicle, Hyperkeratotic papule, Hyperpigmented papule, Digital pitting scar, Ep... ORPHA:79145
Darier Disease
Skin vesicle, Thickened skin, Pruritus, Plantar pits, Acrokeratosis, Macule, Hypermelanotic macul... ORPHA:218
Non-Epidermolytic Palmoplantar Keratoderma
Skin ulcer, Papule, Diffuse palmoplantar hyperkeratosis, Erythema, Pruritus ORPHA:2337
Pemphigus Foliaceus
Skin vesicle, Oral ulcer, Pruritus, Crusting erythematous dermatitis, Erythematous plaque, Annula... ORPHA:79481
Ulerythema Ophryogenesis
Facial erythema, Dermal atrophy, Hyperkeratotic papule, Contact dermatitis, Erythematous papule, ... ORPHA:3406
Autosomal Dominant Hyper-Ige Syndrome
Gingivitis, Skin vesicle, Osteomyelitis, Recurrent fractures, Delayed eruption of teeth, Cellulit... ORPHA:2314
Keratoderma Hereditarium Mutilans With Ichthyosis
Generalized ichthyosis, Sensorineural hearing impairment, Orthokeratosis, Palmoplantar hyperkerat... ORPHA:79395
Acquired Ichthyosis
Ichthyosis, Pruritus, Papule, Hyperkeratosis, Erythema, Recurrent skin infections, Palmoplantar k... ORPHA:454
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Skin vesicle, Erythema migrans, Palmoplantar hyperkeratosis, Parakeratosis, Oral mucosal blisters... ORPHA:158681
Cutaneous Mastocytoma
Telangiectasia macularis eruptiva perstans, Darier's sign, Hyperpigmented papule, Thickened skin,... ORPHA:79455
Pemphigoid Gestationis
Skin vesicle ORPHA:63275
Atrophoderma Vermiculata
Hyperkeratotic papule, Atrophic scars, Skin pit, Hypoplastic pilosebaceous units, Erythema, Peria... ORPHA:79100
Familial Benign Chronic Pemphigus
Skin vesicle, Skin erosion, Erythema ORPHA:2841
Erythema Elevatum Diutinum
Skin vesicle, Skin nodule ORPHA:90000
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Annular cutaneous lesion, Skin ulcer, Atrophic scars, Skin ... ORPHA:542592
Lichen Planus Pemphigoides
Conjunctivitis, Skin vesicle, Pruritus, Abnormal oral mucosa morphology, Hyperkeratosis, Blepharitis ORPHA:254478
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis, Scaling skin, Dry skin, Pruritus, Atopic dermatitis OMIM:618084
Ichthyosis, Congenital, Autosomal Recessive 6
Generalized ichthyosis, Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Paraker... OMIM:612281
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar scaling skin, Diffu... ORPHA:530838
Iga Pemphigus
Skin vesicle, Annular cutaneous lesion, Neutrophilic infiltration of the skin, Cutaneous abscess,... ORPHA:555905
Classic Mycosis Fungoides
Pruritus, Skin rash, Skin ulcer, Eczema, Hypopigmented skin patches, Skin plaque, Erythema, Hyper... ORPHA:2584
Junctional Epidermolysis Bullosa Inversa
Mitten deformity, Enamel hypoplasia, Localized skin lesion, Milia, Keloids, Atrophic scars, Fragi... ORPHA:79405
Prolidase Deficiency
Thin skin, Cutaneous photosensitivity, Pruritus, Crusting erythematous dermatitis, Micrognathia, ... ORPHA:742
Acrokeratoelastoidosis Of Costa
Palmar hyperhidrosis, Hyperkeratotic papule, Orthokeratosis, Yellow papule, Palmoplantar hyperker... ORPHA:38
Erythrokeratodermia Variabilis
Cutaneous photosensitivity, Tapered finger, Skin rash, Hearing impairment, Macule, Erythema, Brac... ORPHA:317
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Parakeratosis, Palmar hyperline... OMIM:604777
Flexion contracture, Cellulitis, Arthritis, Skin rash, Skin ulcer, Limitation of joint mobility, ... ORPHA:231
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Thickened skin, Sensorineural hearing impairment, Abnormality of the tongue, Palmoplantar hyperhi... ORPHA:659
Ichthyosis, Annular Epidermolytic, 1
Congenital bullous ichthyosiform erythroderma, Ichthyosis, Palmoplantar hyperkeratosis, Erythema OMIM:607602
Progressive Symmetric Erythrokeratodermia
Skin plaque, Palmoplantar keratoderma, Erythema ORPHA:316
Ichthyosis, Congenital, Autosomal Recessive 8
Ichthyosis, Orthokeratosis, Erythema, Hyperkeratosis, Hypergranulosis OMIM:613943
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperkeratosis, Scalin... OMIM:617571
Sjögren-Larsson Syndrome
Ichthyosis, Inflammatory abnormality of the eye, Hyperkeratosis, Erythema, Joint stiffness, Urtic... ORPHA:816
Dermatitis, Atopic
Facial erythema, Conjunctivitis, Atopic dermatitis, Ichthyosis, Allergic rhinitis, Asthma, Eczema... OMIM:603165
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Palmoplantar hyperkeratosis, Erythema, Congenital nonbullous ichthyosiform erythr... OMIM:617526
Late-Onset Junctional Epidermolysis Bullosa
Mitten deformity, Enamel hypoplasia, Localized skin lesion, Milia, Keloids, Atrophic scars, Fragi... ORPHA:79406
Self-Improving Dystrophic Epidermolysis Bullosa
Mitten deformity, Enamel hypoplasia, Milia, Atrophic scars, Aplasia cutis congenita, Fragile skin... ORPHA:79411
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Ectodermal dysplasia, Macrotia, Congenital bullous ichthyosiform erythroderma,... OMIM:613576
Erythrokeratodermia Variabilis Et Progressiva 3
Palmoplantar keratoderma, Hypergranulosis, Hyperkeratosis, Erythema OMIM:617525
Juvenile Hyaline Fibromatosis
Skin ulcer, Gingival fibromatosis, Papule, Progressive flexion contractures, Osteolysis, Aplasia/... ORPHA:2028
Hennekam-Beemer Syndrome
Camptodactyly of finger, Respiratory insufficiency, Skin vesicle, Conductive hearing impairment, ... ORPHA:2135
Regional Odontodysplasia
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... ORPHA:83450
Porokeratosis Of Mibelli
Cutaneous photosensitivity, Pruritus, Porokeratosis, Aplasia/Hypoplasia of the skin, Hyperkeratosis ORPHA:735
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Milia, Pruritus, Spotty hypopigmentation, Plantar hyperkeratosis, Papule, Palmar hyperkeratosis, ... ORPHA:79399
Anonychia With Flexural Pigmentation
Abnormal skin morphology of the palm, Macular telangiectasia, Carious teeth, Hypermelanotic macul... ORPHA:69125
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Orthokeratosis, Acne inversa, Short philtrum, Scarring alopecia of scalp, Eczema, Pa... OMIM:617337
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis, Papule OMIM:244850
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans, Skin ulcer, Papule, Aplasia/Hypoplasia of the skin, Pruritus ORPHA:409
Cutaneous Small Vessel Vasculitis
Abnormal oral cavity morphology, Skin rash, Purpura, Cutis marmorata, Papule, Subcutaneous nodule... ORPHA:889
Dentinogenesis Imperfecta
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Finger joint hypermobil... ORPHA:49042
Aquagenic Palmoplantar Keratoderma
Palmoplantar hyperhidrosis, Abnormal phalangeal joint morphology of the hand, Excessive skin wrin... ORPHA:498359
Autosomal Dominant Epidermolytic Ichthyosis
Cutaneous photosensitivity, Ichthyosis, Congenital bullous ichthyosiform erythroderma, Skin ulcer... ORPHA:312
Odontoonychodermal Dysplasia
Palmoplantar erythema, Hypergranulosis, Orthokeratosis, Palmoplantar hyperhidrosis, Hypodontia, W... OMIM:257980
Maculopapular Cutaneous Mastocytosis
Darier's sign, Dermatographic urticaria, Yellow papule, Flushing, Macule, Dyspnea, Erythema, Prur... ORPHA:79457
Dermatitis Herpetiformis
Skin vesicle, Recurrent fractures, Eczema, Macule, Erythema, Pruritus, Urticaria ORPHA:1656
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Enamel hypoplasia, Ichthyosis, Orthokeratosis, Hypodontia, Oligodontia, Jaundice, Sclerosing chol... OMIM:607626
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Recurrent fractures, Skin rash, Cutaneous abscess, Chronic mucocutaneous candidiasis... OMIM:147060
Congenital Panfollicular Nevus
Verrucous papule, Hyperkeratosis, Pruritus, Skin nodule ORPHA:139414
Palmoplantar Keratoderma And Congenital Alopecia 2
Camptodactyly of finger, Facial erythema, Sclerodactyly, Palmoplantar hyperkeratosis, Hyperkerato... OMIM:212360
Peeling Skin Syndrome 4
Ichthyosis, Orthokeratosis, Scaling skin, Hyperkeratosis, Palmoplantar keratoderma OMIM:607936
Jessner Lymphocytic Infiltration Of The Skin
Cutaneous photosensitivity, Papule, Skin plaque, Erythema, Pruritus ORPHA:33314
Acral Peeling Skin Syndrome
Ichthyosis, Eczema, Papule, Scaling skin, Excessive wrinkling of palmar skin, Macule, Skin erosio... ORPHA:263534
Rare Cutaneous Lupus Erythematosus
Intermittent generalized erythematous papular rash, Crusting erythematous dermatitis, Scaling ski... ORPHA:535
Erosive Pustular Dermatosis Of The Scalp
Pustule, Skin erosion, Scarring alopecia of scalp, Erythema ORPHA:222
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Skin nodule, Erythema,... ORPHA:90160
Pityriasis Rubra Pilaris
Orthokeratosis, Parakeratosis, Subungual hyperkeratosis, Erythematous plaque, Palmoplantar kerato... OMIM:173200
Intermediate Generalized Junctional Epidermolysis Bullosa
Milia, Enamel hypoplasia, Atrophic scars, Aplasia cutis congenita, Scarring alopecia of scalp, Or... ORPHA:79402
Lichen Planopilaris
Dermal atrophy, Pruritus, Hepatitis, Skin ulcer, Papule, Neoplasm of the oral cavity, Hypopigment... ORPHA:525
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Skin ulcer, Aplasia cutis congenita over the scalp vertex, Con... ORPHA:1114
Cole Disease
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypopigmented macule, Hyperkeratosis, Palmo... OMIM:615522
Chronic Mucocutaneous Candidiasis
Pruritus, Hepatitis, Skin rash, Abnormal lip morphology, Skin ulcer, Papule, Cough, Erythema, Hyp... ORPHA:1334
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Flexion contracture, Orthokeratosis, Micrognathia, Epiphyseal stippling, 2-5 finger syndactyly, A... OMIM:308050
Dermatofibrosarcoma Protuberans
Thickened skin, Skin ulcer, Subcutaneous nodule, Erythema ORPHA:31112
Chilblain Lupus 1
Chilblains, Skin ulcer, Autoamputation of digits OMIM:610448
Epidermolysis Bullosa Simplex 1C, Localized
Milia, Hyperkeratosis, Palmoplantar blistering OMIM:131800
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Eclabion, Congenital nonbullous ichthyosiform erythroderma, Palmar hyperlinearity... OMIM:615023
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Milia, Pruritus, Atrophic scars, Palmoplantar hyperkeratosis, Oral mucosal blisters, Skin erosion... ORPHA:89838
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Scaling skin, Sclerode... ORPHA:90158
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Enamel hypoplasia, Milia, Increased connective tissue, Punctate keratitis, Scarring alopecia of s... OMIM:226670
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Skin nodule, Vasculiti... ORPHA:90159
Thin skin, Small hand, Micrognathia, Skin ulcer, Aplasia/Hypoplasia of the skin, Joint hyperflexi... ORPHA:2500
Olmsted Syndrome 1
Flexion contracture, Pruritus, Orthokeratosis, Parakeratosis, Subungual hyperkeratosis, Hyperpara... OMIM:614594
Intellectual Disability And Myopathy Syndrome
Incisor macrodontia, Dental malocclusion, Cafe-au-lait spot, Spotty hypopigmentation, Achilles te... OMIM:619719
Hereditary Sensory And Autonomic Neuropathy Type 1
Poor wound healing, Osteomyelitis, Skin ulcer, Cough, Penetrating foot ulcers, Hyperkeratosis, Pa... ORPHA:36386
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Perifolliculitis, Crusting erythematous dermatitis, Inflammatory abnormali... ORPHA:79147
Hyperkeratosis-Hyperpigmentation Syndrome
Cutaneous photosensitivity, Hyperkeratosis, Multiple cafe-au-lait spots, Papule ORPHA:1336
Pyoderma Gangrenosum
Skin vesicle, Rheumatoid arthritis, Atrophic scars, Skin ulcer, Papule, Myositis, Pustule, Inflam... ORPHA:48104
Erythema Of Acral Regions
Erythema, Talipes equinovarus, Abnormality of the dentition OMIM:227000
Transgrediens Et Progrediens Palmoplantar Keratoderma
Facial erythema, Angular cheilitis, Recurrent bacterial skin infections, Thickened skin, High pal... ORPHA:495
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Micrognat... ORPHA:141152
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Enamel hypoplasia, Palmar hyperhidrosis, Hypodontia, Plantar hyperkerato... OMIM:226650
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Pruritus, Respiratory distress, Swollen lip, Upper airway obstruction, Erythema, Tongue edema, An... ORPHA:100057
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis, Joint stiffness, Abnormality of the dentition OMIM:617756
Auriculocondylar Syndrome 2
Hypoplastic superior helix, Dental malocclusion, Cleft at the superior portion of the pinna, Mand... OMIM:614669
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Gingivitis, Ichthyosis, Asthma, Congenital nonbullous ichthyosiform erythroderma, Scaling skin, I... OMIM:614457
Quinquaud Folliculitis Decalvans
Scarring, Scarring alopecia of scalp, Pustule, Erythema, Recurrent skin infections ORPHA:346
Vulvovaginal Gingival Syndrome
Gingivitis, Oral ulcer, Parakeratosis, Skin erosion, Erythema, Pruritus ORPHA:83453
Erythrokeratodermia Variabilis Et Progressiva 2
Palmoplantar keratoderma, Erythema OMIM:617524
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Dermal atrophy, Thin skin, Milia, Cutaneous photosensitivity, Telangiectasia, Abnormality of the ... ORPHA:158673
Acrokeratosis Verruciformis
Verrucous papule, Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis OMIM:101900
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Facial erythema, Enamel hypoplasia, Conjunctivitis, Folliculitis, Scarring alopecia of scalp, Car... OMIM:612843
Amelogenesis Imperfecta
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... ORPHA:88661
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess OMIM:619986
Parana Hard Skin Syndrome
Respiratory insufficiency, Thickened skin, Tapered finger, Restricted chest movement, Hyperkeratosis ORPHA:2812
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Hypergranul... OMIM:604117
Dentin Dysplasia, Type I
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... OMIM:125400
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Petechiae, Skin rash, Bruising susceptibility, Macule, Eryth... ORPHA:280779
Mal De Meleda
Ichthyosis, Perioral erythema, Congenital symmetrical palmoplantar keratosis, Brachydactyly OMIM:248300
Isolated Agammaglobulinemia
Cellulitis, Arthritis, Skin rash, Clinodactyly of the 5th toe, Skin ulcer, Inflammatory abnormali... ORPHA:229717
Localized Junctional Epidermolysis Bullosa
Mitten deformity, Enamel hypoplasia, Dental enamel pits, Milia, Aplasia cutis congenita, Scarring... ORPHA:251393
Flynn-Aird Syndrome
Dermal atrophy, Increased bone density with cystic changes, Increased bone mineral density, Progr... OMIM:136300
Wells Syndrome
Skin vesicle ORPHA:901
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Gingival recession, Ichthyosis, Pruritus, Parakeratosis, Tooth agenesis, Hyperkeratosis, Erythema... OMIM:615821
Localized Scleroderma
Flexion contracture, Thickened skin, Fasciitis, Upper limb asymmetry, Short dental root, Abnormal... ORPHA:90289
Dermatoosteolysis, Kirghizian Type
Oligodontia, Skin ulcer, Abnormality of the wrist, Osteolysis, Aplasia/Hypoplasia of the skin, Ab... ORPHA:1657
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Dermal atrophy, Skin vesicle, Papule, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morp... ORPHA:257
Otodental Dysplasia
Enamel hypoplasia, Sensorineural hearing impairment, Long philtrum, Delayed eruption of teeth, Pu... OMIM:166750
Dyskeratosis Congenita
Premature graying of hair, Skin ulcer, Taurodontia, Hearing impairment, Recurrent fractures, Peri... ORPHA:1775
Naegeli-Franceschetti-Jadassohn Syndrome
Enamel hypoplasia, Milia, Yellow-brown discoloration of the teeth, Abnormality of dental morpholo... ORPHA:69087
Hypotrichosis And Recurrent Skin Vesicles
Angular cheilitis, Skin vesicle, Follicular hyperkeratosis OMIM:613102
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Asthma, Skin ulcer, Recurrent sinusitis, Chronic otitis medi... ORPHA:217390
Angioma Serpiginosum
Vascular skin abnormality, Macule, Erythema ORPHA:95429
Hereditary Acrokeratotic Poikiloderma
Camptodactyly of finger, Gingivitis, Ichthyosis, Skin ulcer, Palmoplantar hyperkeratosis, Eczema,... ORPHA:2907
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Foot joint contracture, Mucosal telangiectasiae, Joint contractu... ORPHA:220402
Familial Cold Autoinflammatory Syndrome 3
Pruritus, Dermatographic urticaria, Allergic rhinitis, Asthma, Recurrent otitis media, Hashimoto ... OMIM:614468
Dystrophic Epidermolysis Bullosa Pruriginosa
Dermal atrophy, Milia, Pruritus, Abnormality of the elbow, Atrophic scars, Abnormality of the wri... ORPHA:89843
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Sensorineural hearing impairment, Delayed eruption of teeth, Asthma, Hypodonti... OMIM:616029
Ramon Syndrome
Conductive hearing impairment, Narrow palate, Sensorineural hearing impairment, Delayed eruption ... ORPHA:3019
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent skin infections, Orthokeratosis, Psoriasiform dermatitis, Erythroderma, Acantholysis, P... OMIM:615508
Vibratory Urticaria
Facial erythema, Urticaria, Flushing OMIM:125630
Ichthyosis Hystrix Of Curth-Macklin
Flexion contracture, Ichthyosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, ... ORPHA:79503
Cutaneous photosensitivity, Skin vesicle, Pruritus, Infectious encephalitis, Petechiae, Crusting ... ORPHA:324625
Recessive Dystrophic Epidermolysis Bullosa Inversa
Mitten deformity, Enamel hypoplasia, Localized skin lesion, Milia, Atrophic scars, Fragile skin, ... ORPHA:79409
Ollier Disease
Multiple enchondromatosis, Skin ulcer, Osteolysis, Subcutaneous nodule, Joint stiffness, Abnormal... ORPHA:296
Sydenham Chorea
Endocarditis, Septic arthritis, Movement abnormality of the tongue, Erythema ORPHA:306731
Flynn-Aird Syndrome
Dermal atrophy, Skin ulcer, Progressive sensorineural hearing impairment, Bone cyst, Carious teet... ORPHA:2047
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Enamel hypoplasia, Mandibular prognathia, Advanced ossification of carpal bones, High palate, Pie... OMIM:618363
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Thin skin, Subcutaneous hemorrhage, Skin ulcer, Purpura, Aplasia/Hypoplasia o... ORPHA:743
Sweet Syndrome
Oligoarthritis, Skin vesicle, Pyoderma gangrenosum, Acne inversa, Skin nodule, Myositis, Pustule,... ORPHA:3243
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Infantile Systemic Hyalinosis
Camptodactyly of finger, Increased susceptibility to fractures, Thickened skin, Recurrent fractur... ORPHA:2176
48,Xyyy Syndrome
Enamel hypoplasia, High palate, Long philtrum, Asthma, Thick lower lip vermilion, Radioulnar syno... ORPHA:99329
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteolytic defects of the phalanges of the hand, High palate, Arthritis, Palmoplantar hyperkerato... OMIM:259100
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... ORPHA:99798
Reynolds Syndrome
Respiratory insufficiency, Sclerodactyly, Infectious encephalitis, Mucosal telangiectasiae, Arthr... ORPHA:779
Temtamy Preaxial Brachydactyly Syndrome
Micrognathia, Microdontia, Tibial deviation of the 2nd toe, Short hallux, Radial deviation of fin... ORPHA:363417
Lethal Osteosclerotic Bone Dysplasia
Retrognathia, Mandibular aplasia, Micrognathia, Gingival fibromatosis, Respiratory distress, Medi... ORPHA:1832
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Follicular hyperkeratosi... OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Hypergranulosis OMIM:617574
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite OMIM:617297
Keratoderma Hereditarium Mutilans
Sensorineural hearing impairment, Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Papule, Oste... ORPHA:494
Rosaï-Dorfman Disease
Osteolysis, Papule, Subcutaneous nodule, Erythema ORPHA:158014
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Cutis laxa, Crusting erythematous dermatitis, Annular cutaneous lesion, Sk... ORPHA:79148
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Erythema, Colitis OMIM:219095
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Subcutaneous nodule ORPHA:2297
Pachyonychia Congenita
Eruptive vellus hair cyst, Angular cheilitis, Epidermoid cyst, Natal tooth, Palmoplantar hyperhid... ORPHA:2309
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta OMIM:104530
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of dental morphology, Everted ... ORPHA:1028
Hypotrichosis 6
Pruritus, Follicular hyperkeratosis, Erythema OMIM:607903
Proliferating Trichilemmal Cyst
Skin ulcer, Epidermoid cyst ORPHA:492
Corneodermatoosseous Syndrome
Gingivitis, Thickened skin, Abnormal finger morphology, Abnormal metacarpal morphology, Abnormali... ORPHA:3194
Palmoplantar Keratoderma, Punctate Type Ia
Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis OMIM:148600
Dowling-Degos Disease 2
Hypomelanotic macule, Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Shaheen Syndrome
Carious teeth, Enamel hypoplasia, Palmoplantar hyperkeratosis OMIM:615328
Ichthyosis, Congenital, Autosomal Recessive 3
Ichthyosis, Eclabion, Congenital nonbullous ichthyosiform erythroderma, Palmar hyperlinearity, Hy... OMIM:606545
Keratosis Pilaris Atrophicans
Papule, Erythema, Comedo OMIM:604093
Bullous Impetigo
Pustule, Septic arthritis, Recurrent bacterial skin infections, Erythema ORPHA:36237
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Hypermelanotic macule, Erythema, Urticaria OMIM:154800
Prolidase Deficiency
High palate, Prolonged neonatal jaundice, Petechiae, Crusting erythematous dermatitis, Asthma, Mi... OMIM:170100
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis, Pruritus, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Pyoderma gangrenosum, Bronchiectasis, Recurrent sinusitis, Chronic pulmonary ... OMIM:616576
Incontinentia Pigmenti
Camptodactyly of finger, Delayed eruption of teeth, Skin ulcer, Osteolysis, Absent hand, Orofacia... ORPHA:464
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Flexion contracture, Short middle phalanx of the 5th finger, Cutaneous finger syndactyly, Large f... OMIM:203550
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Acral ulceration, Skin ulcer, Foot osteomyelitis ORPHA:139578
X-Linked Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Sensorineural hearing impairment, Cellulitis, Hepatitis, Arthritis... ORPHA:47
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Sensorineural hearing impairment, Hyperkeratosis ORPHA:2202
Abnormality of the upper limb, Hyperkeratotic papule, Abnormal oral cavity morphology, Serpiginou... ORPHA:182
Epidermolysis Bullosa, Junctional 1B, Severe
Enamel hypoplasia, Milia, Atrophic scars, Syndactyly, Congenital localized absence of skin, Cario... OMIM:226700
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis, Papule ORPHA:315
Ectodermal Dysplasia-Syndactyly Syndrome 1
Conical tooth, Enamel hypoplasia, Ectodermal dysplasia, Cutaneous finger syndactyly, Widely space... OMIM:613573
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Facial erythema, Conjunctivitis, Folliculitis, Scarring alopecia of scalp, Keratitis, Palmoplanta... OMIM:308800
Microscopic Polyangiitis
Subcutaneous hemorrhage, Arthritis, Skin rash, Skin ulcer, Cutis marmorata, Uveitis, Epistaxis, P... ORPHA:727
Porphyria Variegata
Milia, Skin vesicle, Localized skin lesion, Cutaneous photosensitivity, Thickened skin, Respirato... ORPHA:79473
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Knee flexion contracture, Pyoderma gangrenosum, Cellulitis, Arthritis, Elbow flexion contracture,... OMIM:604416
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Hepatitis, Palmoplantar hyperkeratosis, Carious teeth, Thick vermilion border ORPHA:363523
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Skin ulcer, Chronic sinusitis, Emphysema, Chronic otitis media OMIM:604571
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Thick lower lip vermilion, Osteoporosis, Microdontia of primary teeth, Brachyd... OMIM:234250
Auriculocondylar Syndrome
Micrognathia, Bifid uvula, Question mark ear, Cleft palate, Hearing impairment, Glossoptosis, Cle... ORPHA:137888
Fixed Drug Eruption
Oral ulcer, Crusting erythematous dermatitis, Stomatitis, Skin erosion, Erythema, Erythematous pl... ORPHA:293812
Rapp-Hodgkin Syndrome
Conical tooth, Microdontia, Bifid uvula, Taurodontia, 2-3 toe cutaneous syndactyly, Small, conica... OMIM:129400
Rubinstein-Taybi Syndrome 2
Short 5th toe, Talon cusp, Dental malocclusion, Retrognathia, Narrow palate, High palate, Microgn... OMIM:613684
Perching Syndrome
Cyanosis, High palate, Camptodactyly, Respiratory distress, Joint contracture OMIM:617055
Diffuse Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Flexion contracture, Arthritis, Skin ulcer, Osteolysis, Dyspnea,... ORPHA:220393
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Orthostatic Hypotensive Disorder, Streeten Type
Facial erythema, Bruising susceptibility OMIM:143850
Keratolytic Winter Erythema
Palmoplantar hyperhidrosis, Erythema OMIM:148370
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Arthritis, Skin ulcer, Limitation of joint mobility, Myositis, Pustule, Increase... ORPHA:69126
Respiratory insufficiency, Hepatitis, Skin ulcer, Pallor, Reduced bone mineral density ORPHA:848
Meige Disease
Recurrent bacterial skin infections, Cellulitis, Cobblestone-like hyperkeratosis, Skin ulcer, Ple... ORPHA:90186
Ichthyosis, Congenital, Autosomal Recessive 2
Short toe, Short finger, Congenital nonbullous ichthyosiform erythroderma, Everted lower lip verm... OMIM:242100
Fountain Syndrome
Sensorineural hearing impairment, Wide mouth, Thick lower lip vermilion, Abnormal metacarpal morp... ORPHA:3219
Intellectual Disability, Birk-Barel Type
Incisor macrodontia, Congenital finger flexion contractures, Foot joint contracture, Sacral dimpl... ORPHA:166108
Brooke-Spiegler Syndrome
Nodular changes affecting the eyelids, Abnormality of the sublingual glands, Skin ulcer, Skin nod... ORPHA:79493
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Takayasu Arteritis
Pulmonary arterial hypertension, Arthritis, Inflammatory abnormality of the eye, Skin ulcer, Abno... ORPHA:3287
Leukocyte Adhesion Deficiency Type Ii
Small earlobe, Skin vesicle, Mandibular prognathia, Narrow palate, Conductive hearing impairment,... ORPHA:99843
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Erythema, Absence of subcutaneous fat ORPHA:90157
Psoriasis 14, Pustular
Oligoarthritis, Cholangitis, Parakeratosis, Pustule, Geographic tongue, Erythema, Furrowed tongue... OMIM:614204
Glutamine Deficiency, Congenital
Flexion contracture, Camptodactyly, Apnea, Erythema, Neonatal respiratory distress, Thin vermilio... OMIM:610015
Mulibrey Nanism
Dental malocclusion, Enamel hypoplasia, Hypoplastic frontal sinuses, Hypodontia, Nevus flammeus, ... OMIM:253250
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... ORPHA:83451
Abnormal oral cavity morphology, Rhinitis, Skin ulcer, Papule, Pallor, Abnormal oral mucosa morph... ORPHA:507
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Erythroderma, Infectious encephalitis, Hepatitis, Interstitial pneu... ORPHA:139402
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Hypergranulosis, Palmoplantar hyperker... OMIM:615598
Dentin Dysplasia
Increased bone mineral density, Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Ectopic ossification, Cellulitis, Abnormality of skin physiology, Skin ulcer, Cutis marmorata ORPHA:280062
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Increased bone mineral density, Micrognathia, Increased susceptibility to fractures, Carious teet... ORPHA:763
Reticular Dysgenesis
Skin rash, Skin ulcer, Chronic otitis media, Hearing impairment ORPHA:33355
Specific Granule Deficiency 2
Conical tooth, Recurrent otitis media, Acanthosis nigricans, Recurrent pneumonia, Osteopenia, San... OMIM:617475
Familial Cold Urticaria
Conjunctivitis, Sensorineural hearing impairment, Arthritis, Erythema, Pruritus, Urticaria ORPHA:47045
Rothmund-Thomson Syndrome, Type 1
Conical tooth, Cafe-au-lait spot, Recurrent otitis media, Hyperkeratosis, Osteoporosis OMIM:618625
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Milia, Cutaneous photosensitivity, Hyperkeratotic papule, Spotty hypopigmentation, Plantar hyperk... ORPHA:79397
Chime Syndrome
Ichthyosis, Abnormality of the dentition, Microdontia, Abnormality of dental morphology, Skin ulc... ORPHA:3474
Superficial Epidermolytic Ichthyosis
Thin skin, Ichthyosis, Erythema, Acantholysis, Palmoplantar keratoderma ORPHA:455
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Limitation of joint mobility ORPHA:2680
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Angular cheilitis, Pruritus, Scaling skin, Fragile skin, Punctate palmoplantar hyperkeratosis, Te... OMIM:616295
Autosomal Dominant Severe Congenital Neutropenia
Gingivitis, Oral ulcer, Rhinitis, Pyoderma gangrenosum, Recurrent aphthous stomatitis, Periodonti... ORPHA:486
Mycosis Fungoides
Pruritus, Eczema, Skin plaque, Erythema, Psoriasiform dermatitis OMIM:254400
Proteus Syndrome
Thin bony cortex, Multiple lipomas, Epidermal nevus, Facial hyperostosis, Lipoma, Calvarial hyper... OMIM:176920
Chronic Granulomatous Disease
Gingivitis, Cutaneous photosensitivity, Inflammatory abnormality of the eye, Skin ulcer, Chronic ... ORPHA:379
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Sensorineural hearing impairment, Amelogenesis imperfecta OMIM:603641
Intellectual Developmental Disorder, Autosomal Dominant 21
Incisor macrodontia, Sacral dimple, Long philtrum, Single transverse palmar crease, Narrow mouth,... OMIM:615502
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Enamel hypomineralization, Hypomature dental enamel OMIM:613211
Filippi Syndrome
Microdontia, Abnormality of dental morphology, Hypodontia, Short philtrum, Single transverse palm... OMIM:272440
Werner Syndrome
Lack of skin elasticity, Chondrocalcinosis, Small hand, Premature graying of hair, Prematurely ag... ORPHA:902
Immunoglobulin A Vasculitis
Infectious encephalitis, Arthritis, Skin rash, Skin ulcer, Purpura, Bruising susceptibility, Pust... ORPHA:761
Cockayne Syndrome Type 2
Conjunctivitis, Enamel hypoplasia, Mandibular prognathia, Flexion contracture, Delayed eruption o... ORPHA:90322
Blepharophimosis-Impaired Intellectual Development Syndrome
Dental malocclusion, Enamel hypoplasia, Flexion contracture, Tapered finger, Wide mouth, Widely s... OMIM:619293
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer, Keratoconjunctivitis sicca, Hyperkeratosis, Hearing impairment, Protruding ear, Abnor... ORPHA:1806
Rheumatic Fever
Respiratory insufficiency, Endocarditis, Arthritis, Pallor, Epistaxis, Pericarditis, Macule, Sinu... ORPHA:3099
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Familial Multiple Nevi Flammei
Pulmonary embolism, Abnormality of the upper limb, Skin ulcer, Papule, Nevus flammeus, Hypermelan... ORPHA:624
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Fragile skin, Hyperkeratosis OMIM:615028
Acral Self-Healing Collodion Baby
Lack of skin elasticity, Palmoplantar scaling skin, Erythema, Localized epidermolytic hyperkeratosis ORPHA:281127
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Tapered finger, Oligodontia, Joint contracture of the 5th finger, Discolo... OMIM:601668
Kindler Epidermolysis Bullosa
Camptodactyly of finger, Gingivitis, Flexion contracture, Short 4th metacarpal, Colitis, Recurren... ORPHA:2908
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid arthritis, Papule, Erythema, Pruritus ORPHA:79099
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Hernia, Micrognathia, Microdontia, Hypodontia, Eczema, Joint hypermobility, Am... OMIM:617052
Buerger Disease
Skin ulcer, Acrocyanosis ORPHA:36258
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Sensorineural hearing impairment, Hernia, Atrophic scars, Bruising susceptibility, Joint hypermob... ORPHA:300179
Andersen Cardiodysrhythmic Periodic Paralysis
Short phalanx of finger, Toe syndactyly, Micrognathia, Clinodactyly of the 5th toe, Scapular wing... OMIM:170390
Pilodental Dysplasia With Refractive Errors
Conical incisor, Hypodontia, Ectodermal dysplasia, Follicular hyperkeratosis OMIM:262020
Polyarteritis Nodosa
Skin ulcer, Cutis marmorata, Pericarditis, Subcutaneous nodule, Erythema ORPHA:767
Congenital Disorder Of Glycosylation, Type Iy
Macrotia, Wide mouth, Widely spaced teeth, Micrognathia, Clinodactyly, Respiratory distress OMIM:300934
Juvenile Dermatomyositis
Cutaneous photosensitivity, Mucosal telangiectasiae, Arthritis, Skin rash, Skin ulcer, Limitation... ORPHA:93672
Adult-Onset Still Disease
Cartilage destruction, Hepatitis, Skin rash, Arthritis, Pericarditis, Restrictive ventilatory def... ORPHA:829
Lipoid Proteinosis Of Urbach And Wiethe
Thickened skin, Scarring, Papule, Skin plaque, Skin erosion, Hyperkeratosis OMIM:247100
Dental Ankylosis
Tooth agenesis, Mandibular prognathia, Clinodactyly of the 5th finger, Abnormal dental enamel mor... ORPHA:1077
Maculopapular exanthema, Osteomyelitis, Bronchiectasis, Productive cough, Cellulitis, Arthritis, ... ORPHA:228119
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis, Atrophic scars, Pruritus OMIM:131850
Familial Tumoral Calcinosis
Gingivitis, Skin rash, Hypopigmented skin patches, Abnormal palate morphology, Hyperostosis, Peri... ORPHA:53715
Infantile Myofibromatosis
Skin ulcer, Gingival fibromatosis, Limitation of joint mobility, Osteolysis, Subcutaneous nodule,... ORPHA:2591
Enamel hypoplasia, Short metacarpal, Delayed eruption of teeth, Brachydactyly, Osteoporosis OMIM:612463
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer, Subcutaneous nodule, Papule ORPHA:493
Lamellar Ichthyosis
Lack of skin elasticity, Ichthyosis, Pruritus, Everted lower lip vermilion, Chronic otitis media,... ORPHA:313
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
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia, Joint stiffness, Abnormal pinna morphology ORPHA:2871
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Milia, Atrophic scars, Scarring, Aplasia cutis congenita, Fragile skin, Oral m... ORPHA:79396
Chronic Graft Versus Host Disease
Skin vesicle, Flexion contracture, Pneumothorax, Intermittent generalized erythematous papular ra... ORPHA:99921
Free Sialic Acid Storage Disease
Abnormality of the upper limb, Skin ulcer, Reduced bone mineral density ORPHA:834
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Flexion contracture, Hyperpigmented papule, Preauricular pit, Clinodactyly, Camptodactyly, Osteol... ORPHA:88630
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Periostitis, Skin ulcer, Osteomyelitis ORPHA:2218
Systemic Sclerosis
Osteolytic defects of the phalanges of the hand, Flexion contracture, Thickened skin, Abnormal ph... ORPHA:90291
Acrootoocular Syndrome
Conductive hearing impairment, Delayed eruption of teeth, Grayish enamel, Micrognathia, Cutaneous... ORPHA:2980
Focal Dermal Hypoplasia
Camptodactyly of finger, Toe syndactyly, Upper limb asymmetry, Tooth agenesis, Hearing impairment... ORPHA:2092
Centrifugal Lipodystrophy
Lymphadenitis, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Scaling... ORPHA:90156
Neurogenic Arthrogryposis Multiplex Congenita
Knee flexion contracture, Wrist flexion contracture, Flexion contracture, Hip contracture, Microg... ORPHA:1143
Hyperkeratosis, Thickened skin ORPHA:1659
Aplasia Cutis-Myopia Syndrome
Skin ulcer, Aplasia cutis congenita ORPHA:1117
Bullous Pemphigoid
Eczema, Macule, Erythema, Psoriasiform dermatitis, Urticaria ORPHA:703
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Respiratory insufficiency, High palate, Tongue fasciculations, Respirato... OMIM:614399
Punctate Palmoplantar Keratoderma Type 1
Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis, Verrucous papule, Palmoplanta... ORPHA:79501
Braddock-Carey Syndrome 1
Enamel hypoplasia, Macrotia, Pierre-Robin sequence, Small hand, Clinodactyly, Camptodactyly, Ever... OMIM:619980
Primary Erythromelalgia
Pruritus, Erythema ORPHA:90026
Snakebite Envenomation
Localized skin lesion, Respiratory paralysis, Ecchymosis, Epistaxis, Gingival bleeding, Erythema,... ORPHA:449285
Ichthyosis Hystrix, Lambert Type
Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:146600
Attenuated Chédiak-Higashi Syndrome
Epistaxis, Skin ulcer, Gingival bleeding, Bruising susceptibility ORPHA:352723
Warburg-Cinotti Syndrome
Osteolytic defects of the phalanges of the hand, Wrist flexion contracture, Thin skin, Conductive... OMIM:618175
Congenital Disorder Of Glycosylation, Type Iil
Retrognathia, Enamel hypoplasia, Inflammation of the large intestine, Hyperkeratosis, Dry skin, P... OMIM:614576
Cranioectodermal Dysplasia
Finger syndactyly, Microdontia, Hypodontia, Taurodontia, Clinodactyly of the 5th finger, Everted ... ORPHA:1515
Hamamy Syndrome
Tapered finger, Micrognathia, Everted lower lip vermilion, Smooth philtrum, Recurrent fractures, ... OMIM:611174
Bathing Suit Ichthyosis
Thickened skin, Ichthyosis, Multiple joint contractures, Eclabion, Palmoplantar hyperkeratosis, C... ORPHA:100976
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Short metacarpal, Deep philtrum, Bilateral sensorineural hearing impairment, Microdon... OMIM:605282
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar keratoderma, Epidermal hyperkeratosis, Plantar hyperkeratosis, Palmoplantar erythema OMIM:104100
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
High palate, Follicular hyperkeratosis, Dry skin, Respiratory insufficiency due to muscle weakness OMIM:617066
Lowry-Maclean Syndrome
Retrognathia, Talon cusp, Delayed eruption of primary teeth, Low-set ears, High, narrow palate, M... ORPHA:2409
Pemphigus Vulgaris
Abnormal oral cavity morphology, Recurrent cutaneous abscess formation, Acantholysis, Atypical sc... ORPHA:704
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent aphthous stomatitis, Pyoderma gangrenosum, Chronic oral candidiasis, Bronchiectasis, Re... OMIM:150550
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Distal upper limb muscle weakness, Skin ulcer, Osteomyelitis, Autoamputation of digits OMIM:613640
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Macular hyperpigmented dermopathy, Carious teeth, Scarring alopecia of scalp OMIM:619787
Rothmund-Thomson Syndrome Type 2
Short phalanx of finger, Delayed eruption of teeth, Abnormal trabecular bone morphology, Microdon... ORPHA:221016
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Premature loss of primary teeth, Abnormality of dental morphology, Hypoplasia of teeth, Dry skin ORPHA:248
Warty Dyskeratoma
Neoplasm of the tongue, Localized skin lesion, Abnormal hard palate morphology, Epidermal thicken... ORPHA:69745
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ... OMIM:616221
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Micrognathia, Respiratory distress, Generalized osteosclerosis, Macroglo... ORPHA:1423
Sting-Associated Vasculopathy, Infantile-Onset
Malar rash, Telangiectasia, Skin rash, Cutis marmorata, Livedo reticularis, Pustule, Myositis, Pu... OMIM:615934
Ichthyosis, Multiple joint contractures, Hypoplasia of mandible relative to maxilla, Increased bo... ORPHA:33364
Epidermolysis Bullosa, Lethal Acantholytic
Mitten deformity, Natal tooth, Clinodactyly of the 5th finger, Aplasia cutis congenita, Syndactyl... OMIM:609638
Autosomal Erythropoietic Protoporphyria
Cutaneous photosensitivity, Pruritus, Eczema, Erythema ORPHA:79278
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Conductive hearing impairment, High palate, Osteomyelitis, Bronchiectasis, Allergic rhinitis, Ast... ORPHA:443811
Recurrent bacterial skin infections, Osteomyelitis, Cobblestone-like hyperkeratosis, Cutaneous cy... ORPHA:2583
Bazex Syndrome
Pruritus, Parakeratosis, Scaling skin, Hyperkeratosis, Liposarcoma, Acanthosis nigricans, Lip hyp... ORPHA:166113
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, High palate, Recurrent fractures, Hyperextensibility of the finger joi... OMIM:613849
Clark-Baraitser syndrome
Tapered finger, Prominent median palatal raphe, Exaggerated median tongue furrow, Thick lower lip... OMIM:300602
Hypotrichosis Simplex Of The Scalp
Pruritus, Allergic rhinitis, Parakeratosis, Scaling skin, Hyperkeratosis, Atopic dermatitis, Abno... ORPHA:90368
Xeroderma Pigmentosum
Dermal atrophy, Thin skin, Cutaneous photosensitivity, Telangiectasia, Melanocytic nevus, Sensori... ORPHA:910
Seckel Syndrome 5
Retrognathia, Enamel hypoplasia, High palate, Selective tooth agenesis, Micrognathia, Hypodontia,... OMIM:613823
Hajdu-Cheney Syndrome
Abnormal mandible morphology, Thickened skin, Micrognathia, Skin ulcer, Osteolysis, Thin vermilio... ORPHA:955
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Clinodact... ORPHA:2759
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Epidermolytic Palmoplantar Keratoderma
Camptodactyly, Palmoplantar hyperkeratosis, Epidermal hyperkeratosis, Clubbing, Diffuse palmoplan... ORPHA:2199
Pemphigus Erythematosus
Malar rash, Oral ulcer, Localized skin lesion, Erythematous plaque, Focal dermal aplasia/hypoplas... ORPHA:79480
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Thin skin, Macrotia, Lipoatrophy, Micrognathia, Short philtrum, Respiratory distress, Skin dimple... ORPHA:261304
Otodental Syndrome
Abnormal molar morphology, High-frequency sensorineural hearing impairment, Odontoma, Long philtr... ORPHA:2791
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Hand clenching, Flexion contracture, High palate, Aspiration, Corneal scarring, Apnea, Erythema, ... OMIM:614653
Cleft Lip/Palate
Dental malocclusion, Conductive hearing impairment, Abnormal number of permanent teeth, Unilatera... ORPHA:199306
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Abnormal trabecular bone morphology, Selective tooth agenesis, Microdo... ORPHA:2909
Bardet-Biedl Syndrome 16
Polydactyly, Hearing impairment, Respiratory distress, Recurrent otitis media OMIM:615993
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Increased connective tissue, Tongue fasciculations, Respiratory distress ORPHA:238329
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Relapsing Polychondritis
Scleritis, Inflammatory abnormality of the eye, Pericarditis, Abnormal pattern of respiration, Ch... ORPHA:728
Hyperimmunoglobulinemia D With Periodic Fever
Recurrent aphthous stomatitis, Arthritis, Purpura, Acrocyanosis, Limitation of joint mobility, Pa... ORPHA:343
Xeroderma Pigmentosum, Complementation Group F
Cutaneous photosensitivity, Flexion contracture, Papule, Erythema, Hearing impairment OMIM:278760
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Telangiectasia, Facial telangiectasia, Livedo, Carious teeth, Conical incisor OMIM:614564
Pruritus, Inflammatory abnormality of the skin, Skin rash, Skin ulcer, Papule, Urinary bladder in... ORPHA:556
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress, Umbilical hernia OMIM:254120
Ichthyosis, Hystrix-Like, With Deafness
Sensorineural hearing impairment, Ichthyosis, Cobblestone-like hyperkeratosis, Punctate keratitis... OMIM:602540
Atkin-Flaitz Syndrome
Tapered finger, Prominent median palatal raphe, Exaggerated median tongue furrow, Thick lower lip... OMIM:300431
Oculoskeletodental Syndrome
Retrognathia, Enamel hypoplasia, Conductive hearing impairment, Short 5th finger, Sensorineural h... ORPHA:557003
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Agenesis of incisor, Enamel hypomineralization, Widely spaced teeth, Increase... ORPHA:3352
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Cutis laxa, Inguinal hernia, Joint hyperflexibility, Low-set, p... ORPHA:3134
Lipoid Proteinosis
Thickened skin, High palate, Tongue nodules, Thick lower lip vermilion, Scarring, Papule, Pustule... ORPHA:530
Cenani-Lenz Syndactyly Syndrome
Enamel hypoplasia, Hypoplasia of the radius, Micrognathia, Hypodontia, Radioulnar synostosis, Hyp... OMIM:212780
Epidermodysplasia Verruciformis, Susceptibility To, 4
Facial erythema, Stomatitis, Emphysema OMIM:618307
Acrodermatitis Enteropathica
Conjunctivitis, Skin ulcer, Glossitis, Pustule, Erythema, Generalized abnormality of skin, Furrow... ORPHA:37
Skin Fragility-Woolly Hair Syndrome
Palmoplantar erythema, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Fragile skin, Acan... OMIM:607655
Pityriasis Rubra Pilaris
Thickened skin, Abnormal oral cavity morphology, Ichthyosis, Pruritus, Eczema, Papule, Pustule, S... ORPHA:2897
Congenital Disorder Of Glycosylation, Type Iik
Low-set ears, Joint laxity, Amelogenesis imperfecta, Malar flattening, Osteoporosis, Posteriorly ... OMIM:614727
48,Xxyy Syndrome
Broad jaw, Delayed eruption of teeth, Asthma, Thick lower lip vermilion, Taurodontia, Radioulnar ... ORPHA:10
Costello Syndrome
Lack of skin elasticity, Narrow palate, Thick lower lip vermilion, Ulnar deviation of finger, Mac... ORPHA:3071
Wiskott-Aldrich Syndrome
Conjunctivitis, Petechiae, Arthritis, Skin ulcer, Purpura, Chronic pulmonary obstruction, Bruisin... ORPHA:906
Cryoglobulinemic Vasculitis
Petechiae, Arthritis, Skin ulcer, Purpura, Cutis marmorata, Keratoconjunctivitis sicca, Viral hep... ORPHA:91138
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Mitten deformity, Enamel hypoplasia, Milia, Flexion contracture, Conjunctivitis, Corneal scarring... OMIM:226600
Conjunctivitis, Oral ulcer, Localized skin lesion, Erythema nodosum, Skin rash, Inflammatory abno... ORPHA:3392
Lenz-Majewski Hyperostotic Dwarfism
Humeroradial synostosis, Micrognathia, Elbow flexion contracture, Cleft palate, Hyperextensibilit... OMIM:151050
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Macrotia, Narrow palate, Melanocytic nevus, Aplasia/Hypoplasia of the earlobes, Thickened helices... ORPHA:1555
Ichthyosis, Congenital, Autosomal Recessive 10
Generalized ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperker... OMIM:615024
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Small hand, Long philtrum, Delayed eruption of teeth, 4-5 finger syndactyly,... OMIM:257850
Immunodeficiency 23
Conductive hearing impairment, High palate, Sensorineural hearing impairment, Bronchiectasis, All... OMIM:615816
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Enamel hypoplasia, Tracheobronchomalacia, Pierre-Robin sequence, Hypodontia, Oligodontia, Dental ... OMIM:619184
Toxic Epidermal Necrolysis
Conjunctivitis, Skin ulcer, Respiratory distress, Restrictive ventilatory defect, Cough, Macule, ... ORPHA:537
Poikiloderma With Neutropenia
Retrognathia, Dermal atrophy, Conjunctivitis, Telangiectasia, Long philtrum, Micrognathia, Skin r... OMIM:604173
Protoporphyria, Erythropoietic, 1
Pruritus, Eczema, Erythema OMIM:177000
Lethal Acantholytic Erosive Disorder
Respiratory failure, Natal tooth, 2-3 finger syndactyly, 4-5 finger syndactyly, Camptodactyly of ... ORPHA:158687
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Retrognathia, Enamel hypoplasia, High palate OMIM:617915
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Enamel hypoplasia, Recurrent fractures, Delayed eruption of teeth, Sparse bone ... OMIM:277440
Sjogren-Larsson Syndrome
Enamel hypoplasia, Flexion contracture, Ichthyosis OMIM:270200
Acquired Purpura Fulminans
Macular purpura, Pyoderma gangrenosum, Skin rash, Acrocyanosis, Macule, Erythematous macule ORPHA:49566
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Arthrogryposis mu... OMIM:254210
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Seckel Syndrome 1
Dental malocclusion, Enamel hypoplasia, High palate, Selective tooth agenesis, Micrognathia, Elbo... OMIM:210600
Harlequin Ichthyosis
Respiratory insufficiency, Ichthyosis, Foot polydactyly, Hand polydactyly, Eclabion, Limitation o... ORPHA:457
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Atkin-Flaitz Syndrome
Macrotia, Thick vermilion border, Maxillary lateral incisor microdontia, Everted lower lip vermil... ORPHA:1193
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Sensorineural hearing impairment, Delayed eruption of teeth, Short phi... ORPHA:71267
17Q11.2 Microduplication Syndrome
Enamel hypoplasia, Malar flattening, Thin vermilion border, Abnormal dental enamel morphology ORPHA:139474
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:104510
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth, Brachydactyly ORPHA:2643
Blau Syndrome
Camptodactyly of finger, Pulmonary arterial hypertension, Ichthyosis, Erythema nodosum, Iridocycl... ORPHA:90340
Immunodeficiency 95
Respiratory failure, Respiratory distress, Recurrent viral pneumonia OMIM:619773
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Short philtrum, Tooth agenesis, Hearing impairm... ORPHA:2325
Ichthyosis Prematurity Syndrome
Generalized ichthyosis, Pruritus, Dermatographic urticaria, Allergic rhinitis, Asthma, Erythroder... OMIM:608649
Leopard Syndrome 3
Sensorineural hearing impairment, Low-set ears, Numerous nevi, Epidermal hyperkeratosis, Multiple... OMIM:613707
Cleidocranial Dysplasia 1
Hypoplastic frontal sinuses, Short middle phalanx of the 2nd finger, Increased bone mineral densi... OMIM:119600
Ichthyosis, Congenital, Autosomal Recessive 11
Pruritus, Conical primary incisor, Hyperkeratosis, Congenital ichthyosiform erythroderma, Blephar... OMIM:602400
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Darier-White Disease
Palmar pits, Plantar pits, Acrokeratosis, Acantholysis, Hypermelanotic macule, Pruritus, Enlargem... OMIM:124200
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Intermittent generalized erythematous papular rash, Annular cutaneous lesion, Psoriasiform lesion... ORPHA:284426
Dominant Beta-Thalassemia
Jaundice, Malar prominence, Skin ulcer, Hyperplasia of the maxilla, Pallor, Dyspnea, Chronic hepa... ORPHA:231226
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short phalanx of finger, Short metacarpal, Angel-shaped phalanx, Widely spaced teeth, Respiratory... OMIM:617102
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteomyelitis, Fused cervical vertebrae, Skin rash, Respiratory distress, Stomatitis, Osteolysis,... OMIM:612852
Kohlschutter-Tonz Syndrome-Like
Enamel hypoplasia, 2-3 toe syndactyly, Small hand, Widely spaced teeth, Delayed eruption of teeth... OMIM:619229
Raine Syndrome
Increased bone mineral density, Micrognathia, Microdontia, Cleft palate, Gingival overgrowth, Art... OMIM:259775
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Enamel hypoplasia, Milia, Atrophic scars, Fragile skin, Oral mucosal blisters, Aplasia cutis cong... OMIM:226730
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp... OMIM:301200
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Neutrophilic Dermatosis, Acute Febrile
Pyoderma gangrenosum, Acne inversa, Cystic acne, Panniculitis, Erythema OMIM:608068
Snijders Blok-Campeau Syndrome
Enamel hypoplasia, High palate, Widely spaced teeth, Taurodontia, Joint laxity, Inguinal hernia, ... OMIM:618205
Cleidocranial Dysplasia
Tapered finger, Delayed eruption of teeth, Micrognathia, Cleft palate, Glossoptosis, Hearing impa... ORPHA:1452
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Skin tags, Aplasia of the inner ear, Widely spaced teeth, Micrognathia, Microdonti... OMIM:610706
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Enamel hypoplasia, Microdontia, Oligodontia, Clinodactyly, Sc... OMIM:618727
Granulomatosis With Polyangiitis
Respiratory insufficiency, Conjunctivitis, Oral ulcer, Skin ulcer, Uveitis, Rhinorrhea, Sinusitis... OMIM:608710
Livedoid Vasculopathy
Macular purpura, Atrophic scars, Skin ulcer, Cutis marmorata, Ecchymosis, Superficial dermal peri... ORPHA:542643
Amelogenesis Imperfecta, Type If
Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Amelogenesis imperfecta OMIM:616270
Orofaciodigital Syndrome Type 2
Conductive hearing impairment, Bifid tongue, Micrognathia, Taurodontia, Abnormal oral frenulum mo... ORPHA:2751
Moebius Syndrome
Short phalanx of finger, Hand clenching, High palate, Aplasia/Hypoplasia involving the metacarpal... OMIM:157900
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis, Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hearing impairment OMIM:618349
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, Increased susceptibility to fractures, Jaundice, Skin ulcer, Pal... ORPHA:231222
Bronchopulmonary Dysplasia
Tracheobronchomalacia, Hyperoxemia, Abnormal respiratory system physiology, Respiratory distress,... ORPHA:70589
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Conductive hearing impairment, Delayed eruption of teeth, Camptodactyly, Pleural effusion, Smooth... OMIM:235510
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta, Recurrent fractures, Joint hypermobility, Multiple prenatal fractures,... OMIM:301014
Rothmund-Thomson Syndrome Type 1
Short phalanx of finger, Abnormality of the radial head, Facial erythema, Dermal atrophy, Telangi... ORPHA:221008
Oral Erosive Lichen
Oral ulcer, Cheilitis, Dry skin, Erythema ORPHA:31142
Cockayne Syndrome Type 1
Conjunctivitis, Enamel hypoplasia, Foot joint contracture, Mandibular prognathia, Macrotia, Delay... ORPHA:90321
Gaucher Disease, Perinatal Lethal
Retrognathia, Ichthyosis, Everted upper lip vermilion, Petechiae, Microtia, Low-set ears, Microgn... OMIM:608013
Erythrokeratodermia Variabilis Et Progressiva 6
Parakeratosis, Erythematous plaque, Pruritus, Superficial dermal perivascular inflammatory infilt... OMIM:618531
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Adducted thumb, Single transverse palmar crease, Brachydactyly, Low-set ears, Notched primary cen... OMIM:620062
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal antihelix morphology, Macrotia, Ichthyosis, Abnormality of the elbow, Finger syndactyly,... ORPHA:1005
Pseudohypoparathyroidism, Type Ia
Short toe, Enamel hypoplasia, Short metacarpal, Delayed eruption of teeth, Short finger, Brachyda... OMIM:103580
Liang-Wang Syndrome
Macrodontia of permanent maxillary central incisor, Wide mouth, Macroglossia, Diastema, Everted l... OMIM:618729
Respiratory insufficiency, Pulmonary arterial hypertension, Cutaneous photosensitivity, Pruritus,... ORPHA:221
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Micrognathia, Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Bloom Syndrome
Facial erythema, Cutaneous photosensitivity, Malar rash, Cafe-au-lait spot, Bronchiectasis, Agene... OMIM:210900
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op... OMIM:125500
Heimler Syndrome 1
Enamel hypoplasia, Sensorineural hearing impairment, Amelogenesis imperfecta OMIM:234580
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short phalanx of finger, Dermal atrophy, Flexion contracture, High palate, Acroosteolysis of dist... OMIM:608612
Hypohidrotic Ectodermal Dysplasia
Thin skin, Abnormality of dental morphology, Inflammatory abnormality of the eye, Keratoconjuncti... ORPHA:238468
Myopathy And Diabetes Mellitus
Sensorineural hearing impairment, Achilles tendon contracture, Respiratory distress, Shoulder gir... ORPHA:2596
Orofaciodigital Syndrome Type 5
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... ORPHA:2919
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory insufficiency due to muscle weakness, Respiratory distress, Pallor OMIM:613561
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta, Anterior radial head dislocation, Hyperextensibility of the finger joi... OMIM:610967
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft upper lip, Macrotia, Ectodermal dysplasia, Finger syndactyly, Toe syndactyly, Micrognathia,... ORPHA:3253
Recessive X-Linked Ichthyosis
Hyperkeratosis, Ichthyosis, Dry skin ORPHA:461
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta, Upper limb undergrowth, Abnormal cortical bone morphology, Limitation ... ORPHA:166277
Odontochondrodysplasia 1
Short phalanx of finger, Dentinogenesis imperfecta, Long philtrum, Short metacarpal, Delayed erup... OMIM:184260
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Camptodactyly of finger, Sensorineural hearing impairment, Hidrotic ectodermal dysplasia, Joint c... ORPHA:1883
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Macroglossia, Absent ossification of capital femoral epiphysis, Prolonged n... ORPHA:226313
Adult Syndrome
Thin skin, Melanocytic nevus, Finger syndactyly, Toe syndactyly, Abnormality of dental morphology... ORPHA:978
Peeling Skin Syndrome 5
Scaling skin, Hyperkeratosis OMIM:617115
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth, Respiratory distress, Joint h... ORPHA:166272
Charcot-Marie-Tooth Disease Type 4B2
Respiratory insufficiency, Distal upper limb muscle weakness, Difficulty in tongue movements, Sen... ORPHA:99956
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Erythematous plaque, Erythematous papule, Skin ulcer, Panniculitis ORPHA:86884
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Camptodactyly, Respiratory distress, Eczema OMIM:619751
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Perioral erythema, Pustule, Erythroderma, Blepharitis OMIM:614328
Arthrogryposis And Ectodermal Dysplasia
Cleft upper lip, Ectodermal dysplasia, Joint contracture of the hand, Oligodontia, Camptodactyly,... OMIM:601701
Subcorneal Pustular Dermatosis
Pustule, Pruritus, Erythema, Rheumatoid arthritis ORPHA:48377
Granulomatosis With Polyangiitis
Respiratory insufficiency, Abnormal oral cavity morphology, Sensorineural hearing impairment, Pro... ORPHA:900
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Oral ulcer, Aphthous ulcer, Urticarial plaque, Erythema nodosum, Arthritis, Skin rash, Skin ulcer... OMIM:615688
Giant Cell Arteritis
Conductive hearing impairment, Arthritis, Skin ulcer, Glossitis, Epistaxis, Pericarditis, Cough, ... ORPHA:397
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Distal arthrogryposis, Plantar flexion contracture, High palate, Paradoxical respiration, Respira... OMIM:620011
Severe Generalized Junctional Epidermolysis Bullosa
Mitten deformity, Enamel hypoplasia, Pneumothorax, Abnormal fingertip morphology, Erosion of oral... ORPHA:79404
Recurrent fractures, Delayed eruption of teeth, Increased bone mineral density, Coarse metaphysea... ORPHA:1782
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Mitten deformity, Enamel hypoplasia, Foot joint contracture, Flexion contracture, Milia, Erosion ... ORPHA:79408
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Cutis laxa, Coronal craniosynostosis, Inguinal hernia, Umbilica... OMIM:312830
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Cellulitis, Interstitial pneumonitis, Ulcerative colitis, Erythema OMIM:614878
Oculodentodigital Dysplasia
Enamel hypoplasia, Cleft upper lip, Conductive hearing impairment, High palate, Short middle phal... OMIM:164200
Gaucher Disease Type 2
Abnormal pattern of respiration, Cough, Respiratory distress, Flexion contracture ORPHA:77260
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Ichthyosis, Hypodontia, Oligodontia, Jaundice, Scarring alopecia of scalp, Acanthosis nigricans, ... ORPHA:59303
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Vertebral fusion, Sensorineural hearing impairment, Capitate-hamate fusion, Sh... OMIM:272460
Hypoglossia With Situs Inversus
High palate, Hypodontia, Micrognathia, Respiratory distress, Upper airway obstruction, Narrow mou... OMIM:612776
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
High palate, Multiple joint contractures, Joint laxity, Follicular hyperkeratosis, Dry skin, Resp... ORPHA:486815
Beare-Stevenson Cutis Gyrata Syndrome
Skin tags, Palmoplantar cutis laxa, Narrow palate, High palate, Natal tooth, Preauricular pit, Gi... OMIM:123790
Catastrophic Antiphospholipid Syndrome
Pulmonary arterial hypertension, Pulmonary embolism, Arthritis, Skin ulcer, Cutis marmorata, Myoc... ORPHA:464343
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory insufficiency, Hallux valgus, Multiple joint contractures, Micrognathia, Microdontia,... ORPHA:536467
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Enamel hypoplasia, Recurrent fractures, Delayed eruption of teeth, Sparse bone ... OMIM:264700
Adult Polyglucosan Body Disease
Skin ulcer, Limitation of joint mobility ORPHA:206583
Oculocerebrofacial Syndrome, Kaufman Type
Retrognathia, Wide mouth, Micrognathia, Abnormal lip morphology, Microdontia, Short philtrum, Res... ORPHA:2707
Xfe Progeroid Syndrome
Dermal atrophy, Enamel hypoplasia, Cutaneous photosensitivity, Corneal scarring, Dry skin, Premat... OMIM:610965
Neuropathy, Hereditary Sensory, Type If
Osteolytic defects of the phalanges of the hand, Hyperkeratosis, Osteomyelitis, Hallux valgus OMIM:615632
Blau Syndrome
Camptodactyly of finger, Intermittent generalized erythematous papular rash, Erythema nodosum, Ar... OMIM:186580
Incontinentia Pigmenti
Conical tooth, Delayed eruption of teeth, Hypodontia, Oligodontia, Scarring, Uveitis, Pallor, Ery... OMIM:308300
Atypical Werner Syndrome
Osteolytic defects of the phalanges of the hand, Premature graying of hair, Increased bone minera... ORPHA:79474
Beta-Thalassemia Major
Jaundice, Malar prominence, Skin ulcer, Hyperplasia of the maxilla, Pallor, Dyspnea, Osteoporosis... ORPHA:231214
Tooth Agenesis, Selective, 4
Thin skin, Palmoplantar hyperhidrosis, Peg-shaped maxillary lateral incisors, Agenesis of permane... OMIM:150400
Congenital Disorder Of Glycosylation, Type Ie
Knee flexion contracture, Upper limb undergrowth, Telangiectasia, Small hand, Micrognathia, Campt... OMIM:608799
Pseudohypoparathyroidism Type 1C
Broad distal phalanx of the thumb, Enamel hypoplasia, Conjunctivitis, Short 4th metacarpal, Short... ORPHA:79444
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Apnea, Pallor ORPHA:439218
Congenital Disorder Of Glycosylation, Type Iu
High palate, Micrognathia, Respiratory distress, Thin upper lip vermilion, Neonatal respiratory d... OMIM:615042
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Wide mouth, Widely spaced teeth, Clinodactyly... OMIM:618067
Psoriasis 2
Parakeratosis, Scaling skin, Hyperkeratosis, Psoriasiform dermatitis OMIM:602723
Tetrasomy 5P
Pulmonary arterial hypertension, Cyanosis, High palate, Long philtrum, Preauricular pit, Microgna... ORPHA:3309
Oculocerebrorenal Syndrome Of Lowe
Respiratory insufficiency, Gingivitis, Delayed eruption of teeth, Micrognathia, Skin ulcer, Tauro... ORPHA:534
Mandibuloacral Dysplasia
Thin skin, Contractures of the large joints, High palate, Acroosteolysis of distal phalanges (fee... ORPHA:2457
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... OMIM:605809
Acrokeratosis Verruciformis Of Hopf