Gene: Dsg3 MGI:99499

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

desmoglein 3

Synonyms:

N/A

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 Dsg3 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.

Human diseases associated with Dsg3 (1 diseases)
Human diseases predicted to be associated with Dsg3 (2220 diseases)

The table below shows human diseases associated to Dsg3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Blistering, Acantholytic, Of Oral And Laryngeal Mucosa		Erosion of oral mucosa, Oral mucosal blisters	OMIM:619226

The table below shows human diseases predicted to be associated to Dsg3 by phenotypic similarity.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Syringocystadenoma Papilliferum		Papule, Nevus sebaceous, Subcutaneous nodule, Sparse scalp hair	ORPHA:840
Graham Little-Piccardi-Lassueur Syndrome		Alopecia, Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Perifollicular hyperkeratosis	ORPHA:505
Darier Disease		Plantar pits, Palmoplantar keratoderma, Abnormal hair morphology, Subungual hyperkeratotic fragme...	ORPHA:218
Hypotrichosis 1		Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar...	OMIM:605389
Hypotrichosis Simplex		Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy		Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Dermal atrophy, Alope...	OMIM:617294
Alopecia Areata 2		Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis	OMIM:610753
Hypotrichosis 4		Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
Alopecia Universalis Congenita		Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair	OMIM:203655
Odonto-Onycho Dysplasia-Alopecia Syndrome		Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Abnormal fingernail morphol...	ORPHA:2722
Hypotrichosis 11		Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Alopecia Areata 1		Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits	OMIM:104000
Hypotrichosis 10		Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair	OMIM:614238
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form		Localized skin lesion, Atypical scarring of skin, Keloids, Erythematous papule, Small nail, Hyper...	ORPHA:79410
Hypotrichosis And Recurrent Skin Vesicles		Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Skin vesic...	OMIM:613102
Ectodermal Dysplasia 6, Hair/Nail Type		Alopecia, Sparse hair, Thin toenail, Dystrophic toenail	OMIM:614928
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis		Sparse hair	OMIM:246500
Alopecia-Intellectual Disability Syndrome 1		Alopecia universalis, Alopecia	OMIM:203650
Parc Syndrome		Absent eyelashes, Alopecia, Absent eyebrow, Cleft palate	OMIM:600331
Atrichia With Papular Lesions		Sparse hair	OMIM:209500
Trichodysplasia-Xeroderma Syndrome		Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Dry skin, Trichody...	ORPHA:3361
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial		Alopecia, Alopecia of scalp	OMIM:260910
Severe Combined Immunodeficiency Due To Foxn1 Deficiency		Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis	ORPHA:169095
Hypotrichosis 15		Sparse scalp hair	OMIM:620177
Dystrophic Epidermolysis Bullosa Pruriginosa		Increased circulating IgE level, Atrophic scars, Milia, Dermal atrophy, Nail dystrophy, Abnormal ...	ORPHA:89843
Ichthyosis-Hypotrichosis Syndrome		Sparse hair	ORPHA:91132
Alopecia, Familial Focal		Patchy alopecia	OMIM:104110
Alopecia-Intellectual Disability Syndrome 2		Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3		Alopecia universalis	OMIM:613930
Alopecia, Androgenetic, 1		Alopecia	OMIM:109200
Candidiasis, Familial, 1		Cutaneous anergy, Alopecia	OMIM:114580
Hidrotic Ectodermal Dysplasia		Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, Alopecia, Sparse...	ORPHA:189
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome		Alopecia totalis	ORPHA:1014
Angioma Serpiginosum, X-Linked		Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive		Plantar hyperkeratosis, Alopecia, Nail dystrophy	OMIM:616487
Tooth Agenesis, Selective, 8		Dry skin, Sparse eyebrow, Sparse hair	OMIM:617073
Monilethrix		Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair,...	OMIM:158000
L-Ferritin Deficiency		Alopecia	OMIM:615604
Epidermolysis Bullosa Simplex With Mottled Pigmentation		Hyperkeratotic papule, Alopecia, Milia, Nail dystrophy, Hypomelanotic macule, Spotty hypopigmenta...	ORPHA:79397
Osteopenia And Sparse Hair		Sparse hair	OMIM:259690
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses		Sparse eyebrow, Sparse eyelashes, Acrokeratosis, Absent eyebrow, Sparse scalp hair	OMIM:620199
Palmoplantar Keratoderma And Congenital Alopecia 1		Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Palmoplantar ery...	OMIM:104100
Hypotrichosis 6		Erythema, Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, ...	OMIM:607903
Epidermolysis Bullosa Simplex With Muscular Dystrophy		Alopecia, Hypoplastic fingernail, Hyperconvex fingernails, Dermal atrophy, Aplasia/Hypoplasia of ...	ORPHA:257
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome		Alopecia universalis, Sparse body hair, Melanocytic nevus, Abnormal eyelash morphology, Sparse sc...	ORPHA:1008
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy		Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair	OMIM:601553
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads		Oral leukoplakia, Dry skin, Leukonychia, Angular cheilitis, Onycholysis, Epidermal acanthosis, Fo...	OMIM:616295
Woolly Hair, Autosomal Recessive 3		Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair	OMIM:616760
Palmoplantar Keratoderma And Congenital Alopecia 2		Alopecia totalis, Dry skin, Nail dystrophy, Nail dysplasia, Facial erythema, Palmoplantar hyperke...	OMIM:212360
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy		Alopecia, Ridged nail, Nail dystrophy, Decreased helper T cell proportion, T lymphocytopenia, Nai...	OMIM:601705
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma		Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Failure to thrive, Palmoplantar scaling skin,...	OMIM:605676
Peeling Skin Syndrome 1		Increased circulating IgE level, Nail dystrophy, Eosinophilia, Onycholysis, Scaling skin, Brittle...	OMIM:270300
Erythrokeratodermia Variabilis Et Progressiva 2		Skin plaque, Erythema, Palmoplantar keratoderma, Hypertrichosis	OMIM:617524
Hypotrichosis Simplex Of The Scalp		Sparse scalp hair, Fine hair, Increased circulating IgE level, Alopecia of scalp, Scaling skin, S...	ORPHA:90368
Dowling-Degos Disease		Palmar pits, Hyperkeratotic papule, Erythematous papule, Epidermoid cyst, Hyperpigmented papule, ...	ORPHA:79145
Thumb Deformity And Alopecia		Alopecia	OMIM:188150
Hypotrichosis 7		Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Comedo, Sparse eyelashes, Spar...	OMIM:604379
Acrokeratosis Verruciformis		Ridged nail, Verrucous papule, Acrokeratosis, Epidermal acanthosis, Punctate palmoplantar hyperke...	OMIM:101900
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia		Atypical scarring of skin, Palmoplantar keratoderma, Alopecia totalis, Nail dystrophy, Lack of sk...	ORPHA:1366
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type		Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e...	ORPHA:1808
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency		Alopecia, Decreased lymphocyte proliferation in response to mitogen, Decreased proportion of CD8-...	ORPHA:169154
Pemphigus Vulgaris		Atypical scarring of skin, Urticarial plaque, Alopecia of scalp, Weight loss, Acantholysis, Recur...	ORPHA:704
Pseudopelade Of Brocq		Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Papule, Abnormality of the...	ORPHA:129
Erythema Elevatum Diutinum		Skin nodule, Skin vesicle, Increased circulating antibody level	ORPHA:90000
Pili Torti-Onychodysplasia Syndrome		Alopecia universalis, Alopecia, Keloids, Palmoplantar keratoderma, Sparse body hair, Congenital o...	ORPHA:2890
Monilethrix		Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Follicular hyperkeratosis, Slow-growing ...	ORPHA:573
Anonychia With Flexural Pigmentation		Abnormal hair morphology, Alopecia of scalp, Follicular hyperkeratosis, Anonychia, Hypermelanotic...	ORPHA:69125
Lichen Planus Pemphigoides		Abnormality of the nail, Skin vesicle, Conjunctivitis, Hyperkeratosis, Blepharitis	ORPHA:254478
Intermediate Generalized Junctional Epidermolysis Bullosa		Palmoplantar keratoderma, Sparse body hair, Atrophic scars, Milia, Nail dystrophy, Scarring alope...	ORPHA:79402
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia		Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Dry skin, Abnormal...	ORPHA:248
Quinquaud Folliculitis Decalvans		Abnormal hair morphology, Erythema, Patchy alopecia, Scarring alopecia of scalp	ORPHA:346
Focal Facial Dermal Dysplasia Type I		Sparse lateral eyebrow, Atrophic scars, Low anterior hairline, Absent eyelashes, Spotty hypopigme...	ORPHA:79133
Shwachman-Diamond Syndrome 2		Normocytic anemia, Recurrent infections, Diarrhea, Failure to thrive, Exocrine pancreatic insuffi...	OMIM:617941
Ectodermal Dysplasia 4, Hair/Nail Type		Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys...	OMIM:602032
Marie Unna Hereditary Hypotrichosis		Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal...	ORPHA:444
Lichen Planopilaris		Alopecia, Hypopigmented skin patches, Skin ulcer, Abnormal fingernail morphology, Dermal atrophy,...	ORPHA:525
Ectodermal Dysplasia, Trichoodontoonychial Type		Sparse body hair, Melanocytic nevus, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebr...	ORPHA:1818
Pemphigoid Gestationis		Skin vesicle, Intrauterine growth retardation, Failure to thrive	ORPHA:63275
Moynahan Syndrome		Alopecia, Sparse hair, Hyperkeratosis	ORPHA:2574
Pruritic Urticarial Papules And Plaques Of Pregnancy		Erythematous papule, Eczematoid dermatitis, Urticarial plaque, Striae distensae, Erythematous pla...	ORPHA:64745
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome		Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar keratoderma, Hypopigmente...	ORPHA:2251
Aredyld		Generalized hypotrichosis	OMIM:207780
Kerion Celsi		Alopecia	ORPHA:499
Pemphigus Foliaceus		Erythema, Skin erosion, Psoriasiform dermatitis, Erythematous plaque, Crusting erythematous derma...	ORPHA:79481
Keratosis Follicularis Spinulosa Decalvans, X-Linked		Sparse eyebrow, Folliculitis, Keratitis, Blepharitis, Palmoplantar keratoderma, Dry skin, Nail dy...	OMIM:308800
X-Linked Agammaglobulinemia		Cellulitis, Weight loss, Neutropenia, Meningitis, Recurrent cutaneous abscess formation, Chronic ...	ORPHA:47
Uncombable Hair Syndrome		Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Schopf-Schulz-Passarge Syndrome		Palmoplantar keratoderma, Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Dry skin, ...	OMIM:224750
Familial Benign Chronic Pemphigus		Erythema, Skin erosion, Skin vesicle, Acantholysis, Hyperkeratosis	ORPHA:2841
Palmoplantar Keratoderma And Woolly Hair		Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly...	OMIM:616099
Trichodysplasia-Amelogenesis Imperfecta Syndrome		Trichodysplasia, Alopecia of scalp	ORPHA:79129
Erythrokeratodermia Variabilis		Cataract, Alopecia, Erythema, Abnormal hair morphology, Dry skin, Patchy palmoplantar hyperkerato...	ORPHA:317
Clouston Syndrome		Cataract, Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail d...	OMIM:129500
Immunodeficiency With Hyper-Igm, Type 3		Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Acrodermatitis Enteropathica		Erythema, Alopecia, Ridged fingernail, Blepharitis, Failure to thrive, Skin ulcer, Abnormal eyebr...	ORPHA:37
Keratoderma Hereditarium Mutilans		Alopecia, Honeycomb palmoplantar hyperkeratosis, Abnormal toenail morphology, Papule, Hyperkerato...	ORPHA:494
Frontometaphyseal Dysplasia 2		Hip contracture, Feeding difficulties in infancy, High palate, Dislocated radial head, Pierre-Rob...	OMIM:617137
Pili Torti		Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn...	ORPHA:2889
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant		Cataract, Alopecia, Sparse eyebrow, Folliculitis, Keratitis, Palmoplantar keratoderma, Nail dystr...	OMIM:612843
Hypotrichosis 5		Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs...	OMIM:612841
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency		Decreased circulating IgG level, Increased circulating IgE level, Decreased circulating IgA level...	ORPHA:98813
Epidermolysis Bullosa, Lethal Acantholytic		Alopecia universalis, Skin erosion, Alopecia totalis, Anonychia, Aplasia cutis congenita, Acantho...	OMIM:609638
Bullous Dystrophy, Hereditary Macular Type		Alopecia totalis, Abnormality of the nail	OMIM:302000
Crandall Syndrome		Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Proliferating Trichilemmal Cyst		Skin ulcer, Sparse scalp hair, Epidermoid cyst	ORPHA:492
Pachyonychia Congenita 1		Oral leukoplakia, Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychog...	OMIM:167200
Iga Pemphigus		Skin erosion, Cutaneous abscess, Skin plaque, Skin vesicle, Eosinophilia, Increased circulating I...	ORPHA:555905
Warty Dyskeratoma		Localized skin lesion, Erythematous papule, Abnormal fingernail morphology, Skin-colored papule, ...	ORPHA:69745
Rothmund-Thomson Syndrome, Type 1		Nail dystrophy, Absent eyelashes, Absent eyebrow, Hyperkeratosis, Thin nail, Sparse hair, Cafe-au...	OMIM:618625
Granulomatosis With Polyangiitis		Keratitis, Nasal mucosa vasculitis, Tracheal stenosis, Subglottic stenosis, Episcleritis, Oral ul...	OMIM:608710
Lipoid Proteinosis Of Urbach And Wiethe		Skin erosion, Patchy alopecia, Skin plaque, Papule, Hyperkeratosis	OMIM:247100
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant		Sparse eyebrow, Fine hair, Dry skin, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair	OMIM:129490
Bazex-Dupré-Christol Syndrome		Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Milia, Sparse or absent eyelashes, Pili torti,...	ORPHA:113
Hidrotic Ectodermal Dysplasia, Halal Type		Supernumerary nipple, Abnormal fingernail morphology, Sparse body hair, Abnormal toenail morpholo...	ORPHA:1809
Pachyonychia Congenita		Onychogryposis of fingernail, Alopecia, Cutaneous cyst, Palmoplantar keratoderma, Oral leukoplaki...	ORPHA:2309
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears		Woolly hair, Sparse hair	OMIM:278200
Anaplastic Thyroid Carcinoma		Stridor, Laryngotracheal stenosis, Dyspnea, Goiter, Respiratory distress, Tracheoesophageal fistu...	ORPHA:142
Ectodermal Dysplasia/Skin Fragility Syndrome		Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Palm...	OMIM:604536
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome		Sparse eyebrow, Congenital alopecia totalis, Generalized hyperkeratosis, Dry skin, Alopecia of sc...	ORPHA:2269
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency		Skin ulcer, Abnormal hair morphology, Increased circulating IgE level, Dystrophic fingernails, Eo...	ORPHA:2314
Pyoderma Gangrenosum		Skin ulcer, Atrophic scars, Increased circulating antibody level, Skin vesicle, Myeloid leukemia,...	ORPHA:48104
Esophageal Atresia		Abnormal vertebral morphology, Esophagitis, Episodic respiratory distress, Feeding difficulties i...	ORPHA:1199
Kindler Epidermolysis Bullosa		Inflammation of the large intestine, Carious teeth, Periodontitis, Esophagitis, Abnormal toenail ...	ORPHA:2908
Autosomal Agammaglobulinemia		Cellulitis, Recurrent infections, Bronchiectasis, Sepsis, Hepatitis, Recurrent respiratory infect...	ORPHA:33110
Hair Defect With Photosensitivity And Impaired Intellectual Development		Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair	OMIM:234030
Spondyloepimetaphyseal Dysplasia, Sponastrime Type		Platyspondyly, Abnormality of the dentition, Posterior subcapsular cataract, Rhizomelia, Dispropo...	OMIM:271510
Poikiloderma With Neutropenia		Carious teeth, Recurrent otitis media, Low posterior hairline, Neutropenia, Hyperkeratosis, Short...	OMIM:604173
Pachyonychia Congenita 2		Subungual hyperkeratosis, Dry hair, Sparse eyebrow, Oral leukoplakia, Epidermoid cyst, Nail dystr...	OMIM:167210
Trichothiodystrophy 9, Nonphotosensitive		High, narrow palate, Sparse eyebrow, Tiger tail banding, Nail dystrophy, Sparse hair	OMIM:619692
Keratoderma Hereditarium Mutilans With Ichthyosis		Alopecia, Palmoplantar keratoderma, Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Nail d...	ORPHA:79395
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type		Palmoplantar keratoderma, Sparse body hair, Dry skin, Sparse eyelashes, Slow-growing hair, Sparse...	OMIM:618535
Lethal Acantholytic Erosive Disorder		Congenital alopecia totalis, Absent hair, Intrauterine growth retardation, Absent toenail, Absent...	ORPHA:158687
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome		Abnormal vertebral morphology, Aspiration pneumonia, Abnormal toenail morphology, Curly hair, Hig...	ORPHA:444077
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive		Pneumonia, Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections, Otit...	OMIM:601457
Severe Generalized Junctional Epidermolysis Bullosa		Recurrent skin infections, Abnormality of the nail, Abnormal oral mucosa morphology, Alopecia, Ab...	ORPHA:79404
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige		Palmoplantar keratoderma, Failure to thrive, Orthokeratosis, Psoriasiform dermatitis, Recurrent s...	OMIM:615508
Darier-White Disease		Palmar pits, Plantar pits, Ridged nail, Enlargement of parotid gland, Subungual hyperkeratotic fr...	OMIM:124200
Ectodermal Dysplasia-Syndactyly Syndrome 1		Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ...	OMIM:613573
Wells Syndrome		Skin vesicle, Eosinophilia	ORPHA:901
Hypotrichosis 9		Sparse eyebrow, Sparse body hair, Abnormal eyelash morphology, Abnormality of the nail, Sparse sc...	OMIM:614237
Pemphigus Erythematosus		Localized skin lesion, Skin erosion, Hypopigmented skin patches, Focal dermal aplasia/hypoplasia,...	ORPHA:79480
Ectodermal Dysplasia 7, Hair/Nail Type		Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ...	OMIM:614929
Flynn-Aird Syndrome		Dermal atrophy, Alopecia, Alopecia of scalp, Hyperkeratosis	OMIM:136300
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections		Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr...	OMIM:618944
Immunodeficiency 25		Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome		Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Melanocytic nevus, Dystrophic fingernail...	ORPHA:1882
Carey-Fineman-Ziter Syndrome		Growth delay, Aplasia/Hypoplasia of the tongue, Downslanted palpebral fissures, Long philtrum, La...	ORPHA:1358
Classic Mycosis Fungoides		Erythema, Alopecia, Hypopigmented skin patches, Skin ulcer, Dry skin, Skin plaque, Hyperkeratosis...	ORPHA:2584
Ectodermal Dysplasia 9, Hair/Nail Type		Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail...	OMIM:614931
Cronkhite-Canada Syndrome		Diarrhea, Sparse body hair, Colon cancer, Stomach cancer, Cachexia, Anorexia, Abdominal pain, Cat...	ORPHA:2930
Keratosis Palmoplantaris Striata Ii		Abnormal hair morphology, Epidermal acanthosis, Palmoplantar keratoderma, Abnormality of the nail	OMIM:612908
Diastrophic Dysplasia		Laryngotracheal stenosis, Neonatal short-limb short stature, Cervical kyphosis, Hypoplastic cervi...	OMIM:222600
Woolly Hair-Skin Fragility Syndrome		Acantholysis, Woolly hair, Palmoplantar keratoderma	OMIM:620415
Dyskeratosis Congenita		Periodontitis, Hypopigmented skin patches, White hair, Premature graying of hair, Sparse hair, Es...	ORPHA:1775
Acute Generalized Exanthematous Pustulosis		Predominantly dermal neutrophilic infiltrate, Pustule, Eosinophilic dermal infiltration, Skin ves...	ORPHA:293173
Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant		Palmar pits, Papule, Sparse scalp hair, Comedo	OMIM:605827
Pycnodysostosis		Carious teeth, Delayed cranial suture closure, Hepatosplenomegaly, Delayed eruption of primary te...	ORPHA:763
Isolated Congenital Hypoglossia/Aglossia		Microglossia, Aspiration pneumonia, Respiratory distress, Feeding difficulties, Gastrostomy tube ...	ORPHA:141152
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type		Platyspondyly, Thoracolumbar kyphosis, Multiple joint dislocation, Kyphosis, Small for gestationa...	ORPHA:93360
Dermatitis, Atopic		Allergic rhinitis, Keratoconus, Atopic dermatitis, Cataract, Eczematoid dermatitis, Dry skin, Pal...	OMIM:603165
Witkop Syndrome		Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,...	OMIM:189500
Dermoodontodysplasia		Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Dry skin, Melanocytic nevus, Trichodys...	ORPHA:1660
Spondyloepimetaphyseal Dysplasia, Shohat Type		Abnormal vertebral morphology, Platyspondyly, Severe short stature, Disproportionate short statur...	ORPHA:93352
Immunodeficiency 103, Susceptibility To Fungal Infections		Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Microcephalic Primordial Dwarfism, Dauber Type		Obesity, Subglottic stenosis, Madelung deformity, Lumbar scoliosis, Severe postnatal growth retar...	ORPHA:319675
Kid Syndrome		Trichilemmoma, Posterior blepharitis, Aplastic/hypoplastic lacrimal glands, Postnatal growth reta...	ORPHA:477
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders		Hepatosplenomegaly, Hernia, Epicanthus, Short nose, Long eyelashes, Thick hair, Anemia, Flexion c...	ORPHA:505248
Immunodeficiency, Common Variable, 3		Abnormal T cell count, Recurrent otitis media, Abnormal B cell count, Recurrent sinusitis, Decrea...	OMIM:613493
Choanal Atresia		Respiratory distress, Subglottic stenosis, Chronic sinusitis, Craniosynostosis, Recurrent respira...	ORPHA:137914
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections		Alopecia, Cutaneous abscess, Increased circulating IgE level, Dry skin, Decreased circulating IgA...	OMIM:618282
Olmsted Syndrome 2		Alopecia universalis, Palmoplantar keratoderma, Perioral hyperkeratosis, Woolly hair, Parakeratos...	OMIM:619208
Björnstad Syndrome		Alopecia, Brittle hair	ORPHA:123
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation		Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Nasolacrimal Duct Cyst		Red eye, Cellulitis, Stridor, Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory d...	ORPHA:141083
Geleophysic Dysplasia 3		Pneumonia, Wide nasal bridge, Long philtrum, Tracheal stenosis, Subglottic stenosis, Limited elbo...	OMIM:617809
Pseudoprogeria Syndrome		Alopecia, Sparse eyebrow, Failure to thrive, Decreased body weight, Absent eyelashes, Absent eyeb...	ORPHA:2985
Woolly Hair		Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Tularemia		Pneumonia, Brain abscess, Cutaneous abscess, Pharyngitis, Respiratory distress, Abnormal nasophar...	ORPHA:3392
Immunodeficiency 53		Recurrent pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Recurrent u...	OMIM:617585
Naxos Disease		Subungual hyperkeratosis, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Acantholysi...	OMIM:601214
Olmsted Syndrome, X-Linked		Subungual hyperkeratosis, Palmoplantar keratoderma, Alopecia totalis, Parakeratosis, Palmoplantar...	OMIM:300918
Immunodeficiency, Common Variable, 1		Pneumonia, Recurrent pneumonia, Abnormal T cell count, Diarrhea, Recurrent otitis media, Splenome...	OMIM:607594
Inflammatory Skin And Bowel Disease, Neonatal, 2		Increased circulating IgE level, Long eyelashes, Papule	OMIM:616069
Netherton Syndrome		Sparse eyebrow, Fine hair, Abnormal hair morphology, Trichorrhexis nodosa, Increased circulating ...	ORPHA:634
Immunodeficiency, Common Variable, 8, With Autoimmunity		Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Kondoh Syndrome		Sparse hair, Thick eyebrow, Widow's peak	OMIM:606242
Superficial Epidermolytic Ichthyosis		Erythema, Acantholysis, Palmoplantar keratoderma, Thin skin	ORPHA:455
Toxic Epidermal Necrolysis		Erythema, Skin ulcer, Weight loss, Pancreatitis, Entropion, Tracheoesophageal fistula, Intestinal...	ORPHA:537
Immunodeficiency 46		Sepsis, Failure to thrive, Recurrent sinopulmonary infections, Neutropenia, Chronic oral candidia...	OMIM:616740
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema		Skin vesicle, Erythema migrans, Parakeratosis	ORPHA:158681
Oliver-Mcfarlane Syndrome		Severe short stature, Alopecia, Central heterochromia, Long eyelashes, Delayed puberty, Long eyeb...	OMIM:275400
Chromosome 8Q22.1 Duplication Syndrome		Genu recurvatum, Microcornea, Short palpebral fissure, Gastroesophageal reflux, Interphalangeal j...	OMIM:151200
Alopecia Totalis		Inflammation of the large intestine, Alopecia totalis, Alopecia of scalp, Onycholysis, Trachyonyc...	ORPHA:700
Schöpf-Schulz-Passarge Syndrome		Alopecia, Sparse hair, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Hypotrichosis 8		Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Comedo, Ridged nail, Sparse eyelashes, Sparse a...	OMIM:278150
Immunodeficiency, Common Variable, 12, With Autoimmunity		Alopecia, Autoimmune hemolytic anemia, Thrombocytopenia, Pyoderma gangrenosum, Decreased circulat...	OMIM:616576
Localized Junctional Epidermolysis Bullosa		Sparse pubic hair, Atypical scarring of skin, Dystrophic toenail, Milia, Atrophic, patchy alopeci...	ORPHA:251393
Focal Facial Dermal Dysplasia 3, Setleis Type		Low anterior hairline, Distichiasis, Anal atresia, Sparse hair, Absent lower eyelashes	OMIM:227260
Trichodental Dysplasia		Sparse hair, Slow-growing hair, Fine hair, Brittle hair	OMIM:601453
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity		Decreased proportion of CD4+CD25+ regulatory T cells, Alopecia universalis, Decreased specific an...	OMIM:606367
Renpenning Syndrome		High, narrow palate, Iris coloboma, Alopecia, Abnormal hairshaft morphology, Cataract, Growth del...	ORPHA:3242
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation		Abnormally low T cell receptor excision circle level, Erythematous papule, Panhypogammaglobulinem...	OMIM:602450
Agammaglobulinemia 6, Autosomal Recessive		Recurrent pneumonia, Diarrhea, Recurrent otitis media, Abnormal T cell morphology, Recurrent bron...	OMIM:612692
Thoracolaryngopelvic Dysplasia		Slender build, Laryngeal stenosis, Horizontal ribs, Short ribs, Irregular chondrocostal junctions...	OMIM:187760
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome		Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ...	ORPHA:37042
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma		Alopecia, Palmoplantar keratoderma, Dry skin, Alopecia of scalp, Nail dystrophy, Hypomelanotic ma...	OMIM:618373
Marshall-Smith Syndrome		Aspiration pneumonia, Irregular dentition, Decreased body weight, Brittle hair, High palate, Spar...	OMIM:602535
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia		Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Hypoplastic to...	ORPHA:2325
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures		Umbilical hernia, Subglottic stenosis, Exaggerated cupid's bow, Macroglossia, High palate, Wide m...	OMIM:614501
Porphyria Cutanea Tarda		Alopecia, Onycholysis, Facial hypertrichosis	OMIM:176100
Hypotrichosis 13		Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes	OMIM:615896
Immunodeficiency, Common Variable, 11		Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease...	OMIM:615767
Hypohidrotic Ectodermal Dysplasia		Generalized hypopigmentation of hair, Xerostomia, Failure to thrive, Eczematoid dermatitis, Breas...	ORPHA:238468
Cortisone Reductase Deficiency 1		Alopecia, Hirsutism	OMIM:604931
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome		Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy...	OMIM:617241
Bazex-Dupre-Christol Syndrome		Coarse hair, Nevus, Trichorrhexis nodosa, Furrowed tongue, Milia, Pili torti, Sparse hair, Tricho...	OMIM:301845
Focal Facial Dermal Dysplasia Type Iii		Highly arched eyebrow, Sparse lateral eyebrow, Hypopigmented skin patches, Redundant skin, Aplasi...	ORPHA:1807
Atelosteogenesis Type Ii		Rhizomelia, Cervical kyphosis, Hypoplastic cervical vertebrae, Elbow dislocation, Long philtrum, ...	ORPHA:56304
Elastosis Perforans Serpiginosa		Hyperkeratotic papule, Erythematous papule, Skin-colored papule, Crusting erythematous dermatitis...	ORPHA:79148
Frontometaphyseal Dysplasia 1		Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited elbow movement, Absent frontal...	OMIM:305620
Alopecia Antibody Deficiency		Sparse body hair, Decreased circulating antibody level, Aplasia/Hypoplasia of the eyebrow, Abnorm...	ORPHA:1006
Netherton Syndrome		Decreased circulating IgG level, Brittle scalp hair, Sparse eyebrow, Increased circulating IgE le...	OMIM:256500
Hypotrichosis 12		Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ...	OMIM:615885
Acrofacial Dysostosis 1, Nager Type		Sparse lower eyelashes, Velopharyngeal insufficiency, Cleft upper lip, Downslanted palpebral fiss...	OMIM:154400
Atelosteogenesis Type I		Platyspondyly, Laryngotracheal stenosis, Rhizomelia, Joint dislocation, Absent or minimally ossif...	ORPHA:1190
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome		Short nail, Downslanted palpebral fissures, Bilateral ptosis, Widely spaced teeth, Long eyelashes...	ORPHA:324540
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked		Alopecia, Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosinophilia,...	OMIM:304790
Stevens-Johnson Syndrome		Erythema, Esophageal stricture, Weight loss, Pancreatitis, Entropion, Macule, Conjunctivitis, Aca...	ORPHA:36426
Olmsted Syndrome 1		Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa...	OMIM:614594
Immunodeficiency, Common Variable, 2		Recurrent pneumonia, Abnormal T cell count, Diarrhea, Recurrent otitis media, Splenomegaly, Recur...	OMIM:240500
Frontometaphyseal Dysplasia		Joint contracture of the hand, Limited elbow movement, Dislocated radial head, Fused cervical ver...	ORPHA:1826
Mucolipidosis Type Ii		Dry hair, White hair, Postnatal growth retardation, Hepatosplenomegaly, Hip contracture, Epicanth...	ORPHA:576
Alpha-Heavy Chain Disease		Anemia, Dysgammaglobulinemia, Alopecia, Splenomegaly	ORPHA:100025
Porphyria Variegata		Localized skin lesion, Skin erosion, Hypertrichosis, Milia, Ileus, Skin vesicle	ORPHA:79473
Histiocytosis, Familial Lipochrome		Histiocytosis, Increased circulating antibody level	OMIM:235900
Sponastrime Dysplasia		Shallow acetabular fossae, Genu valgum, Epicanthus, Microcoria, Neutropenia, Hip dislocation, Sho...	ORPHA:93357
Aredyld Syndrome		Type I diabetes mellitus, Sparse body hair, Abnormal dental enamel morphology, Intrauterine growt...	ORPHA:1133
Ichthyosis, Congenital, Autosomal Recessive 11		Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Brit...	OMIM:602400
Sabinas Brittle Hair Syndrome		Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair	OMIM:211390
Kimura Disease		Increased circulating IgE level, Eosinophilia	ORPHA:482
Verrucous Hemangioma		Skin plaque, Hyperkeratotic papule, Epidermal acanthosis, Inflammatory abnormality of the skin	ORPHA:464318
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome		Sparse hair, Fine hair	ORPHA:1174
Centrifugal Lipodystrophy		Erythema, Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Absence of subcutaneous ...	ORPHA:90156
Immunodeficiency 11B With Atopic Dermatitis		Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM	OMIM:617638
Fibrodysplasia Ossificans Progressiva		Anemia, Alopecia, Subcutaneous nodule	ORPHA:337
Inflammatory Skin And Bowel Disease, Neonatal, 1		Paronychia, Perioral erythema, Increased circulating IgE level, Perianal erythema, Onychogryposis	OMIM:614328
Immunodeficiency 24		Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities		High, narrow palate, Preauricular pit, Sparse hair, Sacral dimple	OMIM:273390
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia		Diarrhea, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otiti...	OMIM:307200
Tetrasomy 12P		Sparse eyebrow, Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick uppe...	ORPHA:884
Congenital Ichthyosiform Erythroderma		Alopecia, Keratitis, Failure to thrive, Palmoplantar keratoderma, Hypohidrosis, Erythroderma, Ect...	ORPHA:79394
Opitz Gbbb Syndrome		Natal tooth, Ankyloglossia, Congenital diaphragmatic hernia, Feeding difficulties in infancy, Ana...	ORPHA:2745
Hereditary Mucoepithelial Dysplasia		Alopecia, Fine hair, Furrowed tongue, Tracheoesophageal fistula, Sparse hair, Hyperkeratosis	ORPHA:1839
Bjornstad Syndrome		Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al...	OMIM:262000
Ectodermal Dysplasia-Syndactyly Syndrome 2		Follicular hyperkeratosis, Sparse hair, Palmoplantar keratoderma	OMIM:613576
Hennekam-Beemer Syndrome		Pneumonia, Erythema, Failure to thrive, Camptodactyly of finger, Upslanted palpebral fissure, Ski...	ORPHA:2135
Epidermolysis Bullosa, Junctional 5A, Intermediate		Alopecia of scalp, Nail dystrophy, Onychogryposis, Absent pubic hair, Absent axillary hair, Onych...	OMIM:619816
Autoimmune Lymphoproliferative Syndrome, Type Iii		Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Congenital Short Bowel Syndrome		Intestinal malrotation, Sparse hair, Intestinal hypoplasia	ORPHA:2301
Cervical Hypertrichosis With Underlying Kyphoscoliosis		Sacral hypertrichosis, Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri...	OMIM:117850
Choroidal Atrophy-Alopecia Syndrome		Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T...	ORPHA:1433
Hypotrichosis 14		Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes	OMIM:618275
Trichothiodystrophy 1, Photosensitive		Small nail, Intestinal obstruction, Erythroderma, Brittle hair, Sparse hair, Hyperkeratosis, Shor...	OMIM:601675
Cardiofaciocutaneous Syndrome 2		Fine hair, Absent eyebrow, Curly hair, High palate, Sparse hair	OMIM:615278
Immunodeficiency 114, Folate-Responsive		Decreased circulating IgG level, Skin ulcer, Increased circulating IgE level, Lymphopenia, Spleno...	OMIM:620603
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures		Stridor, Anal stenosis, Gastroesophageal reflux, Downturned corners of mouth, Postnatal growth re...	OMIM:620029
Sweet Syndrome		Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration...	ORPHA:3243
Bathing Suit Ichthyosis		Alopecia, Nail dystrophy, Multiple joint contractures, Parakeratosis, Hypohidrosis, Erythroderma,...	ORPHA:100976
Hypergonadotropic Hypogonadism And Partial Alopecia		Alopecia	OMIM:241090
Brown-Vialetto-Van Laere Syndrome 1		Stridor, Tongue atrophy, Tongue fasciculations, Respiratory distress, Nocturnal hypoventilation, ...	OMIM:211530
Atelosteogenesis, Type I		Rhizomelia, Disproportionate short-limb short stature, Elbow dislocation, Stillbirth, Knee disloc...	OMIM:108720
Hypotrichosis-Intellectual Disability, Lopes Type		Sparse hair	ORPHA:2266
Immunodeficiency 8 With Lymphoproliferation		Recurrent upper respiratory tract infections, Gastroesophageal reflux, Recurrent otitis media, Ly...	OMIM:615401
Mcdonough Syndrome		Short palpebral fissure, Dental malocclusion, Open bite, Abnormal palate morphology, Cachexia, Pt...	ORPHA:2471
Immunodeficiency 104		Pneumonia, Diarrhea, Gastroesophageal reflux, Chronic mucocutaneous candidiasis, Eczematoid derma...	OMIM:608971
Epidermolysis Bullosa, Junctional 1A, Intermediate		Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Recurrent Respiratory Papillomatosis		Stridor, Recurrent upper respiratory tract infections, Recurrent pneumonia, Failure to thrive, Re...	ORPHA:60032
Agammaglobulinemia 8B, Autosomal Recessive		Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Severe Combined Immunodeficiency, X-Linked		Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ...	OMIM:300400
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development		Alopecia	OMIM:242510
Immunodeficiency 95		Recurrent viral pneumonia, Respiratory distress, Lymphopenia, Recurrent viral upper respiratory t...	OMIM:619773
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia		Abnormal fingernail morphology, Sparse hair, Thin skin, Sparse body hair	ORPHA:1810
Epidermolysis Bullosa Dystrophica, Autosomal Recessive		Cataract, Alopecia, Atrophic scars, Corneal scarring, Milia, Nail dystrophy, Nail dysplasia, Abno...	OMIM:226600
Tracheobronchopathia Osteochondroplastica		Pneumonia, Stridor, Recurrent pneumonia, Calcification of cartilage, Tracheal stenosis, Esophagit...	ORPHA:3348
Ichthyosis, Congenital, Autosomal Recessive 1		Alopecia, Nail dystrophy, Nail dysplasia, Parakeratosis, Palmoplantar hyperkeratosis, Sparse hair	OMIM:242300
Leukocyte Adhesion Deficiency Type Ii		Recurrent pneumonia, Keratitis, Failure to thrive, Umbilical hernia, Recurrent otitis media, Long...	ORPHA:99843
Fraser Syndrome 1		Small nail, Extension of hair growth on temples to lateral eyebrow, Absent eyelashes, Absent eyeb...	OMIM:219000
Microcephaly 13, Primary, Autosomal Recessive		Short stature, Intrauterine growth retardation, Subglottic stenosis, Small for gestational age	OMIM:616051
Autosomal Dominant Epidermolytic Ichthyosis		Palmoplantar keratoderma, Skin ulcer, Conjunctival hamartoma, Weight loss, Erythroderma, Hyperker...	ORPHA:312
Systemic Lupus Erythematosus 17		Alopecia, Lymphopenia, Leukopenia, Decreased circulating complement C3 concentration, Decreased c...	OMIM:301080
Atrophoderma Vermiculata		Hyperkeratotic papule, Abnormal epidermal morphology, Erythema, Hypoplastic pilosebaceous units, ...	ORPHA:79100
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive		Keratoconus, Alopecia, Palmoplantar keratoderma, Failure to thrive, Erythroderma, Short stature, ...	OMIM:242150
Dermatitis Herpetiformis		Microcytic anemia, Erythema, Skin vesicle, Macule	ORPHA:1656
Immunodeficiency 20		Reduced natural killer cell count, BCGitis, Recurrent otitis media, Recurrent viral upper respira...	OMIM:615707
Deafness, Neural, With Atypical Atopic Dermatitis		Increased circulating IgE level	OMIM:221700
Fraser Syndrome		Anal atresia, High palate, Malformed lacrimal duct, Lacrimal duct aplasia, Tracheal stenosis, Ver...	ORPHA:2052
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes		Cataract, Alopecia, Protein-losing enteropathy, Xerostomia, Diarrhea, Hematochezia, Vomiting, Mal...	OMIM:175500
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency		Abnormality of humoral immunity, Lack of T cell function, Increased circulating IgE level, Lympho...	ORPHA:277
Syndromic X-Linked Intellectual Disability 7		Sparse body hair	ORPHA:85274
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome		Long eyelashes, Alopecia, Sparse hair	ORPHA:3363
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy		Intestinal malrotation, Subglottic stenosis, Solitary median maxillary central incisor, Short sta...	OMIM:619657
Holocarboxylase Synthetase Deficiency		Perioral eczema, Alopecia, Eczematoid dermatitis, Respiratory distress, Nausea and vomiting, Kera...	ORPHA:79242
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum		Inflammatory abnormality of the skin, Xerostomia, Intestinal perforation, Corneal erosion, Atypic...	ORPHA:95455
Mucoepithelial Dysplasia, Hereditary		Pneumonia, Cataract, Alopecia, Coarse hair, Recurrent pneumonia, Chronic mucocutaneous candidiasi...	OMIM:158310
Ectodermal Dysplasia-Blindness Syndrome		Cataract, Microcornea, Skin ulcer, Fine hair, Abnormal fingernail morphology, Keratoconjunctiviti...	ORPHA:1806
Mal De Meleda		Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Superficial dermal peri...	ORPHA:87503
Familial Reactive Perforating Collagenosis		Hyperkeratotic papule, Abnormal epidermal morphology, Inflammatory abnormality of the skin, Eryth...	ORPHA:79147
Avian Influenza		Pneumonia, Myelitis, Sepsis, Diarrhea, Hepatitis, Vomiting, Pharyngitis, Respiratory distress, Ly...	ORPHA:454836
Immunodeficiency 35		Increased circulating IgE level	OMIM:611521
Mitochondrial Neurogastrointestinal Encephalomyopathy		Diarrhea, Gastroesophageal reflux, Vomiting, Abnormality of the extraocular muscles, Hypogonadotr...	ORPHA:298
Palmoplantar Keratoderma, Epidermolytic, 1		Increased circulating IgE level	OMIM:144200
Hemophagocytic Lymphohistiocytosis, Familial, 4		Hemophagocytosis, Skin rash, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Conjunctivitis	OMIM:603552
Presynaptic Congenital Myasthenic Syndromes		Stridor, Congenital hip dislocation, Gastroesophageal reflux, Nasal regurgitation, Recurrent resp...	ORPHA:98914
Congenital Myasthenic Syndrome		Stridor, Congenital hip dislocation, Gastroesophageal reflux, Nasal regurgitation, Recurrent resp...	ORPHA:590
Juvenile Hyaline Fibromatosis		Skin ulcer, Abnormal hair morphology, Aplasia/Hypoplasia of the skin, Progressive flexion contrac...	ORPHA:2028
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction		Wide nasal bridge, Congenital laryngeal stridor, Failure to thrive, Feeding difficulties, 11 pair...	OMIM:618356
Multicentric Reticulohistiocytosis		Cachexia, Histiocytosis, Arthritis	ORPHA:139436
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant		Trichiasis, Sparse eyebrow, Keratitis, Oral leukoplakia, Elbow flexion contracture, Furrowed tong...	OMIM:148210
Nicolaides-Baraitser Syndrome		High, narrow palate, Highly arched eyebrow, Alopecia, Short palpebral fissure, Joint dislocation,...	ORPHA:3051
Zellweger-Like Syndrome Without Peroxisomal Anomalies		Alopecia, Failure to thrive, Intrauterine growth retardation, Upslanted palpebral fissure, Epican...	ORPHA:50812
Hypotrichosis-Lymphedema-Telangiectasia Syndrome		Abnormal sweat gland morphology, Alopecia, Absent eyelashes, Absent eyebrow, Abnormality of the n...	OMIM:607823
Neurooculorenal Syndrome		Ectopic posterior pituitary, Highly arched eyebrow, Central hypothyroidism, Anteriorly placed anu...	OMIM:620305
Trichothiodystrophy		Carious teeth, Epicanthus, Neutropenia, Brittle hair, Split nail, High, narrow palate, Microcorne...	ORPHA:33364
Progeria-Short Stature-Pigmented Nevi Syndrome		Recurrent viral infections, Insulin-resistant diabetes mellitus, Microcytic anemia, Low posterior...	ORPHA:2959
Zika Virus Disease		Myelitis, Ankle swelling, Vomiting, Wrist swelling, Pruritus, Intrauterine growth retardation, Sk...	ORPHA:448237
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive		Absent nipple, Xerostomia, Sparse lateral eyebrow, Periorbital wrinkles, Sparse body hair, Dry sk...	OMIM:614941
Muckle-Wells Syndrome		Polyarticular arthritis, Recurrent aphthous stomatitis, Leukocytosis, Conjunctival hyperemia, Sho...	OMIM:191900
Ige Responsiveness, Atopic		Increased circulating IgE level	OMIM:147050
Agammaglobulinemia, X-Linked		Enteroviral dermatomyositis syndrome, Recurrent otitis media, Prostatitis, Neutropenia, Recurrent...	OMIM:300755
Idiopathic Trachyonychia		Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Patchy alopecia, Circumungu...	ORPHA:79153
Combined Immunodeficiency Due To Dock8 Deficiency		Increased circulating IgE level, T lymphocytopenia, Skin ulcer, B lymphocytopenia	ORPHA:217390
Immunodeficiency 89 And Autoimmunity		Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Acrogeria		Skin ulcer, Fine hair, Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Short stature, Li...	ORPHA:2500
Myasthenic Syndrome, Congenital, 20, Presynaptic		Stridor, Arthrogryposis multiplex congenita, Apnea, Hypoventilation, Ptosis, Dysphagia, Scoliosis...	OMIM:617143
Immunodeficiency 67		Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Neutropenia, Severe Congenital, 1, Autosomal Dominant		Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Fraser-Like Syndrome		Subglottic stenosis, Contracture of the proximal interphalangeal joint of the 2nd finger	OMIM:229230
Congenital Laryngeal Web		Respiratory distress, Stridor, Short stature, Laryngomalacia	ORPHA:2374
Ichthyosis, Congenital, Autosomal Recessive 2		Erythema, Alopecia, Palmoplantar keratoderma, Small nail, Abnormal hair morphology, Hypohidrosis,...	OMIM:242100
Juvenile Temporal Arteritis		Allergic rhinitis, Conjunctivitis, Skin nodule	ORPHA:26137
Laryngotracheal Angioma		Stridor, Vomiting, Intercostal retractions, Respiratory distress, Apnea, Wheezing, Feeding diffic...	ORPHA:137935
Hawkinsinuria		Sparse hair, Fine hair	ORPHA:2118
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections		Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ...	OMIM:619752
Muckle-Wells Syndrome		Camptodactyly of finger, Recurrent aphthous stomatitis, Episcleritis, Skin rash, Splenomegaly, Ab...	ORPHA:575
Dyskeratosis Congenita, Autosomal Recessive 6		Oral leukoplakia, Alopecia, Sparse hair, Nail dystrophy	OMIM:616353
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome		Alopecia, Hypopigmentation of hair	ORPHA:1067
Chronic Graft Versus Host Disease		Erythema, Alopecia, Xerostomia, Skin ulcer, Urinary bladder inflammation, Fasciitis, Nail dystrop...	ORPHA:99921
Alopecia-Intellectual Disability Syndrome		Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse body hair	ORPHA:2850
Cohen Syndrome		High, narrow palate, Macrodontia of permanent maxillary central incisor, Downslanted palpebral fi...	OMIM:216550
Herpes Simplex Virus Stromal Keratitis		Corneal perforation, Herpetiform vesicles, Keratitis, Conjunctival hyperemia, Corneal stromal ede...	ORPHA:137599
Sudden Infant Death With Dysgenesis Of The Testes Syndrome		Stridor, Tongue fasciculations, Gastroesophageal reflux, Abnormal pattern of respiration, Laryngo...	OMIM:608800
Palmoplantar Keratoderma, Nagashima Type		Palmoplantar hyperhidrosis, Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyp...	OMIM:615598
Ichthyosis, Annular Epidermolytic, 1		Erythema, Skin erosion, Orthokeratosis, Hyperparakeratosis, Abnormal hair morphology, Erythematou...	OMIM:607602
Pulmonary Blastoma		Recurrent pneumonia, Weight loss	ORPHA:64741
Campomelic Dysplasia		Thin ribs, Carious teeth, Hypoplastic cervical vertebrae, Contracture of the distal interphalange...	OMIM:114290
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)		Intestinal pseudo-obstruction, Malnutrition, Slender build, Malabsorption, Gastrointestinal dysmo...	OMIM:613662
Short-Rib Thoracic Dysplasia 15 With Polydactyly		Downslanted palpebral fissures, Respiratory distress, Splenomegaly, Horizontal ribs, Aplasia of t...	OMIM:617088
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome		Alopecia, Sparse body hair, Dermal atrophy, Absent eyelashes, Absent eyebrow, Sparse scalp hair	ORPHA:69735
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis		Cataract, Alopecia, Sparse eyebrow, Erysipelas, Sparse eyelashes, Nail dysplasia, Hypohidrosis, D...	OMIM:615704
Proteasome-Associated Autoinflammatory Syndrome 3		Recurrent infections, Failure to thrive, Lymphopenia, Skin rash, Splenomegaly, Myositis, Lipodyst...	OMIM:617591
Immunodeficiency 86		Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Ifap Syndrome 2		Cataract, Atrichia, Posterior blepharitis, Keratitis, Perioral erythema, Nail dystrophy, Angular ...	OMIM:619016
Lipodystrophy Due To Peptidic Growth Factors Deficiency		Type I diabetes mellitus, Palmoplantar keratoderma, Premature graying of hair, Abnormal hair morp...	ORPHA:1979
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2		Downslanted palpebral fissures, Failure to thrive in infancy, Intrauterine growth retardation, Op...	OMIM:616801
Autoinflammation With Arthritis And Dyskeratosis		Failure to thrive, Dry skin, Corneal neovascularization, Punctate keratitis, Keratoconjunctivitis...	OMIM:617388
Atopic Keratoconjunctivitis		Keratitis, Dry skin, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Loss ...	ORPHA:163934
19Q13.11 Microdeletion Syndrome		Congenital hip dislocation, Cataract, Microcornea, Growth delay, Sparse lateral eyebrow, Fine hai...	ORPHA:217346
Odontoonychodermal Dysplasia		Erythema, Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, ...	OMIM:257980
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form		Recurrent skin infections, Onychogryposis, Alopecia, Palmoplantar keratoderma, Atrophic scars, Ga...	ORPHA:79396
Glycosylphosphatidylinositol Biosynthesis Defect 25		Sparse hair, Coarse hair	OMIM:619985
Oculocerebrocutaneous Syndrome		Alopecia, Focal dermal aplasia/hypoplasia, Cleft palate	OMIM:164180
Dowling-Degos Disease 4		Epidermal acanthosis, Papule	OMIM:615696
Neutropenia, Chronic Familial		Neutropenia, Increased circulating antibody level	OMIM:162700
Microsporidiosis		Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Hypotrichosis With Juvenile Macular Degeneration		Fine hair, Melanocytic nevus, Pili torti, Brittle hair, Hyperkeratosis, Sparse scalp hair	ORPHA:1573
Adult Syndrome		Alopecia, Toenail dysplasia, Absent nipple, Skin ulcer, Fine hair, Breast hypoplasia, Fingernail ...	ORPHA:978
Laryngotracheoesophageal Cleft Type 4		Abnormal form of the vertebral bodies, Abnormality of the spleen, Tracheal stenosis, Cachexia, Tr...	ORPHA:93941
Blepharocheilodontic Syndrome 1		High anterior hairline, Small nail, Nail dysplasia, Distichiasis, Aplasia cutis congenita over th...	OMIM:119580
Hydrocephalus-Obesity-Hypogonadism Syndrome		Low posterior hairline, Absent facial hair, Sparse facial hair, High, narrow palate	ORPHA:2183
Macroglobulinemia, Waldenstrom, Susceptibility To, 1		Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Pierre Robin Sequence With Facial And Digital Anomalies		Easily subluxated first metacarpophalangeal joints, Hyperconvex nail, Glossoptosis, Cleft palate,...	OMIM:311895
Chung-Jansen Syndrome		Laryngeal cleft, Long philtrum, Feeding difficulties, Thick eyebrow, Obesity, Upslanted palpebral...	OMIM:617991
Diffuse Palmoplantar Keratoderma, Bothnian Type		Diffuse palmoplantar hyperkeratosis, Erythema, Papule, Skin ulcer	ORPHA:2337
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism		Severe short stature, Alopecia, Generalized hypoplasia of dental enamel, Telecanthus, Severe post...	OMIM:203550
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate		Supernumerary nipple, Sparse body hair, Sparse eyelashes, Absent eyelashes, Cleft lip, Palmoplant...	OMIM:106260
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques		Erythema, Alopecia, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail morphology, Skin fi...	ORPHA:659
Adult Syndrome		Absent nipple, Fair hair, Eczematoid dermatitis, Breast hypoplasia, Dry skin, Dermal atrophy, Alo...	OMIM:103285
Cartilage-Hair Hypoplasia		Absent pubertal growth spurt, Lymphopenia, Sparse eyelashes, Narrow vertebral interpedicular dist...	OMIM:250250
Ectodermal Dysplasia-Sensorineural Deafness Syndrome		Sparse hair, Brittle hair, Hyperkeratosis, Coarse hair	ORPHA:1883
Incontinentia Pigmenti		Supernumerary nipple, Sparse hair, Hyperkeratosis, Onychogryposis, Cataract, Alopecia, Breast apl...	OMIM:308300
Ulnar-Mammary Syndrome		Ectopic posterior pituitary, Axillary apocrine gland hypoplasia, Anal stenosis, Sparse lateral ey...	OMIM:181450
Autoimmune Polyendocrinopathy Type 2		Celiac disease, Alopecia, Hypopigmented skin patches	ORPHA:3143
Rhizomelic Chondrodysplasia Punctata, Type 1		Severe short stature, Alopecia, Rhizomelia, Upslanted palpebral fissure, Severe failure to thrive...	OMIM:215100
Van Den Ende-Gupta Syndrome		High, narrow palate, Thin ribs, Joint contracture of the hand, Stridor, Dental crowding, Camptoda...	OMIM:600920
Hypocomplementemic Urticarial Vasculitis		Diarrhea, Joint dislocation, Episcleritis, Skin rash, Splenomegaly, Recurrent bacterial infection...	ORPHA:36412
Zinc Deficiency, Transient Neonatal		Alopecia	OMIM:608118
Chromomycosis		Hyperkeratotic papule, Atypical scarring of skin, Keratitis, Hypopigmented skin patches, Hyperpar...	ORPHA:182
Immunodeficiency 102		Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections...	OMIM:301082
Catel-Manzke Syndrome		Highly arched eyebrow, Failure to thrive, Oral synechia, Camptodactyly of finger, Short stature, ...	ORPHA:1388
Proteasome-Associated Autoinflammatory Syndrome 1		Premature graying of hair, Recurrent otitis media, Microcytic anemia, Chronic constipation, Flexi...	OMIM:256040
Aids Wasting Syndrome		Malnutrition, Malabsorption, Abnormal gonadotropin-releasing hormone concentration, Cachexia, Wei...	ORPHA:90081
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia		Diarrhea, Keratoconjunctivitis, Iridocyclitis, Hypoparathyroidism, Female hypogonadism, Premature...	OMIM:240300
Flynn-Aird Syndrome		Cataract, Alopecia, Carious teeth, Primary adrenal insufficiency, Type II diabetes mellitus, Abno...	ORPHA:2047
Congenital Pulmonary Valvar Stenosis		Laryngeal stenosis	ORPHA:3189
Hereditary Angioedema Type 1		Diarrhea, Vomiting, Respiratory distress, Tongue edema, Laryngeal edema, Inspiratory stridor, Int...	ORPHA:100050
Familial Cold Autoinflammatory Syndrome 1		Aphthous ulcer, Leukocytosis, Skin rash, Arthritis, Conjunctivitis, Uveitis	OMIM:120100
Rhizomelic Chondrodysplasia Punctata		Dry skin, Alopecia, Sparse body hair	ORPHA:177
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant		Pneumonia, Atopic dermatitis, Abnormally low T cell receptor excision circle level, Recurrent upp...	OMIM:618806
Lipoid Proteinosis		Abnormal oral mucosa morphology, Nasal polyposis, Microglossia, Recurrent respiratory infections,...	ORPHA:530
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections		Increased circulating IgE level, Eosinophilia	OMIM:618523
Bleeding Disorder, Platelet-Type, 21		Alopecia, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet aggregat...	OMIM:617443
Dracunculiasis		Cellulitis, Skin ulcer, Skin rash, Subcutaneous nodule, Arthritis, Flexion contracture, Recurrent...	ORPHA:231
Chromosome Xq13 Duplication Syndrome		Highly arched eyebrow, Short palpebral fissure, Sparse lateral eyebrow, Recurrent otitis media, I...	OMIM:301069
Bone Marrow Failure Syndrome 3		Aplastic anemia, Small nail, Persistence of hemoglobin F, Pancytopenia, Oral ulcer, Hernia, Epica...	OMIM:617052
Sézary Syndrome		Alopecia, Dry skin, Abnormal lymphocyte morphology, Splenomegaly, Nail dystrophy, Abnormal immuno...	ORPHA:3162
Progeroid Syndrome, Petty Type		Abnormal hair morphology, Thick eyebrow, Long eyelashes in irregular rows, Redundant skin, Genera...	ORPHA:2963
Wolman Disease		Hepatic failure, Malnutrition, Adrenal calcification, Adrenal insufficiency, Nausea and vomiting,...	ORPHA:75233
Ichthyosis, Hystrix-Like, With Deafness		Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Sparse eyelashes, Abse...	OMIM:602540
Stuve-Wiedemann Syndrome 2		Eczematoid dermatitis, Respiratory distress, Intrauterine growth retardation, Neonatal death, Dys...	OMIM:619751
Gaucher Disease, Type Ii		Stridor, Bronchiolitis, Gastroesophageal reflux, Failure to thrive, Apnea, Splenomegaly, Thromboc...	OMIM:230900
Basan Syndrome		Palmoplantar keratoderma, Milia, Flexion contracture of digit, Nail dystrophy, Epidermal acanthos...	OMIM:129200
Pachyonychia Congenita 3		Palmoplantar keratoderma, Oral leukoplakia, Onychogryposis of toenails, Furrowed tongue, Nail dys...	OMIM:615726
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1		Failure to thrive, Camptodactyly of finger, Intrauterine growth retardation, Inspiratory stridor,...	OMIM:604320
Necrobiosis Lipoidica		Erythema, Indurated nodule, Inflammatory abnormality of the skin, Skin ulcer, Skin nodule, Atroph...	ORPHA:542592
Wiskott-Aldrich Syndrome		Gingival bleeding, Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leu...	ORPHA:906
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia		Wide nasal bridge, Keratitis, Long philtrum, Downslanted palpebral fissures, Recurrent otitis med...	OMIM:602562
Mitochondrial Complex Iv Deficiency, Nuclear Type 2		Respiratory distress, Hypoplastic toenails, Inspiratory stridor, Irregular respiration, High pala...	OMIM:604377
Heyn-Sproul-Jackson Syndrome		Sparse hair	OMIM:618724
Agammaglobulinemia 1, Autosomal Recessive		Recurrent pneumonia, Recurrent enteroviral infections, Failure to thrive, Recurrent otitis media,...	OMIM:601495
Brooke-Spiegler Syndrome		Skin ulcer, Skin nodule, Skin appendage neoplasm, Abnormality of the submandibular glands, Skin-c...	ORPHA:79493
Laryngotracheoesophageal Cleft		Stridor, Laryngeal cleft, Dyspnea, Recurrent respiratory infections, Impaired oropharyngeal swall...	ORPHA:2004
Generalized Eruptive Keratoacanthoma		Abnormal cornea morphology, Keratoconjunctivitis sicca, Ectropion, Conjunctivitis, Papule	ORPHA:411777
Oligodontia-Colorectal Cancer Syndrome		Short eyelashes, Sparse body hair, Fundic gland polyposis, Sparse axillary hair, Absent eyebrow, ...	OMIM:608615
Immunodeficiency 112		Reduced natural killer cell count, Recurrent viral infections, Chronic mucocutaneous candidiasis,...	OMIM:620449
Perching Syndrome		Respiratory distress, Dysphagia, Joint contracture, Camptodactyly, High palate, Scoliosis, Feedin...	OMIM:617055
Lelis Syndrome		Yellow nails, Sparse lateral eyebrow, Furrowed tongue, Nail dystrophy, Abnormal toenail morpholog...	ORPHA:140936
Idiopathic Achalasia		Gastroesophageal reflux, Malnutrition, Weight loss, Wheezing, Recurrent aspiration pneumonia, Dys...	ORPHA:930
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome		Decreased proportion of CD8-positive T cells, Lymphopenia, Decreased proportion of CD4-positive h...	ORPHA:508533
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia		Generalized hypotrichosis, Sparse eyebrow, Palmoplantar keratoderma, Absent hair, Trichorrhexis n...	ORPHA:1010
Non-Acquired Isolated Growth Hormone Deficiency		Sparse hair, Premature skin wrinkling	ORPHA:631
Familial Cold Urticaria		Conjunctivitis, Hyperhidrosis, Arthritis, Erythema	ORPHA:47045
Laryngomalacia		Respiratory distress, Congenital laryngeal stridor, Laryngomalacia	OMIM:150280
Epidermolytic Palmoplantar Keratoderma		Interphalangeal joint contracture of finger, Abnormal fingernail morphology, Diffuse palmoplantar...	ORPHA:2199
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome		Recurrent viral infections, Recurrent otitis media, Alopecia totalis, Psoriasiform dermatitis, Re...	ORPHA:293978
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome		Wide nasal bridge, Downslanted palpebral fissures, Elbow flexion contracture, Intrauterine growth...	ORPHA:371364
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome		Carious teeth, Bilateral cleft palate, Anodontia, Sparse hair, Alopecia, Downslanted palpebral fi...	ORPHA:3253
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections		Increased circulating IgE level, Eosinophilia	OMIM:620532
Schwartz-Jampel Syndrome		Elbow dislocation, Pursed lips, Genu valgum, Narrow mouth, Hip contracture, Decreased body weight...	ORPHA:800
Tylosis With Esophageal Cancer		Oral leukoplakia, Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis, ...	OMIM:148500
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)		Vomiting, Diarrhea, Failure to thrive, Respiratory distress, Cachexia, Weight loss, Feeding diffi...	OMIM:612075
X-Linked Intellectual Disability, Cabezas Type		Camptodactyly of finger, Hypogonadism, Downslanted palpebral fissures, Open bite, Wide mouth, Thi...	ORPHA:85293
Satb2-Associated Syndrome Due To A Pathogenic Variant		Bifid uvula, Abnormality of the dentition, Gastroesophageal reflux, Long philtrum, Postnatal grow...	ORPHA:576283
Woolly Hair, Autosomal Dominant		Dry hair, Coarse hair, Abnormal eyebrow morphology, Palmoplantar hyperkeratosis, Slow-growing hai...	OMIM:194300
Majeed Syndrome		Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Malabsorption, Leukocytos...	ORPHA:77297
Congenital Factor Xii Deficiency		Retinal arteriolar occlusion, Retinal vein occlusion, Penetrating foot ulcers	ORPHA:330
Isolated Agammaglobulinemia		Cellulitis, Pneumonia, Failure to thrive, Skin ulcer, Otitis media, Skin rash, Arthritis, Sinusit...	ORPHA:229717
Dyskeratosis Congenita, Autosomal Dominant 2		Bone marrow hypocellularity, Abnormality of the dentition, Aplastic anemia, Oral leukoplakia, Fai...	OMIM:613989
Chilblain Lupus 1		Chilblains, Skin ulcer, Abnormality of the nail	OMIM:610448
Mixed Connective Tissue Disease		Alopecia, Gastroesophageal reflux, Xerostomia, Gastrointestinal hemorrhage, Leukopenia, Joint swe...	ORPHA:809
Autosomal Dominant Severe Congenital Neutropenia		Cellulitis, Recurrent viral infections, Periodontitis, Aplastic anemia, Diarrhea, Lymphopenia, Or...	ORPHA:486
Paternal 20Q13.2Q13.3 Microdeletion Syndrome		Wide nasal bridge, Failure to thrive, Respiratory distress, Intrauterine growth retardation, Apla...	ORPHA:261304
Ectodermal Dysplasia And Immunodeficiency 1		Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Mucopolysaccharidosis-Plus Syndrome		Low posterior hairline, Epicanthus, Neutropenia, Long eyelashes, Low anterior hairline, Anemia, F...	OMIM:617303
Lymphoma, Hodgkin, Classic		Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Isolated Pierre Robin Syndrome		Glossoptosis, Cleft palate, Abnormality of the pharynx	ORPHA:718
Proteus Syndrome		Cerebriform connective tissue nevus, Nevus, Downslanted palpebral fissures, Multiple lipomas, Pto...	OMIM:176920
Leukocyte Adhesion Deficiency		Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Xq27.3Q28 Duplication Syndrome		Sparse body hair	ORPHA:261483
Hypomelanosis Of Ito		Alopecia, Macular hypopigmented whorls, streaks, and patches	OMIM:300337
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2		Pneumonia, Recurrent infections, Recurrent upper respiratory tract infections, Pneumocystis jirov...	OMIM:614069
Pgm3-Cdg		Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Deafness, Autosomal Dominant 34, With Or Without Inflammation		Conjunctivitis, Arthritis	OMIM:617772
Immunodeficiency, Common Variable, 5		Recurrent bacterial infections, Abnormal T cell count, Abnormal B cell count, Recurrent respirato...	OMIM:613495
Selective Igm Deficiency		Allergic rhinitis, Cellulitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-p...	ORPHA:331235
Activated Pi3K-Delta Syndrome		Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Splenomegaly, Chroni...	ORPHA:397596
Ptosis-Vocal Cord Paralysis Syndrome		Severe short stature, Ptosis, Laryngomalacia	ORPHA:2997
Lamellar Ichthyosis		Dry skin, Lack of skin elasticity, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Hyperkeratosis...	ORPHA:313
Acrofacial Dysostosis, Palagonia Type		High, narrow palate, Sparse lateral eyebrow, Thin eyebrow, Dermal atrophy, Low anterior hairline,...	ORPHA:1787
Hereditary Bullous Dystrophy, Macular Type		Alopecia, Atrichia, Nail dystrophy, Spotty hypopigmentation, Congenital abnormal hair pattern	ORPHA:1867
Hoyeraal-Hreidarsson Syndrome		Generalized hypopigmentation of hair, Oral leukoplakia, Premature graying of hair, Dermal atrophy...	ORPHA:3322
Omenn Syndrome		Pneumonia, Alopecia, Sepsis, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Spl...	ORPHA:39041
Omenn Syndrome		Pneumonia, Alopecia, Recurrent viral infections, Diarrhea, Failure to thrive, Splenomegaly, Recur...	OMIM:603554
Larynx Atresia		Short stature, Recurrent respiratory infections, Laryngomalacia	ORPHA:1202
Lethal Osteosclerotic Bone Dysplasia		Delayed cranial suture closure, Respiratory distress, Intrauterine growth retardation, Gingival o...	ORPHA:1832
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome		Abnormal vertebral morphology, Abnormal hair morphology, Abnormal nasolacrimal system morphology,...	ORPHA:2273
Thyroid Lymphoma		Stridor, Goiter, Respiratory distress, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Dy...	ORPHA:97285
Immunodeficiency 76		Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Chronic diarrhea, B lymp...	OMIM:619164
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome		Sparse eyebrow, Sparse body hair, Sparse eyelashes, Scarring alopecia of scalp, Sparse scalp hair	ORPHA:59303
Rapp-Hodgkin Syndrome		Small nail, Velopharyngeal insufficiency, Supernumerary nipple, Recurrent otitis media, Progressi...	OMIM:129400
Shigellosis		Microangiopathic hemolytic anemia, Abscess, Anorexia, Abdominal pain, Corneal ulceration, Intesti...	ORPHA:810
Immunodeficiency 52		Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure...	OMIM:617514
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant		Absent nipple, Absent hair, Dry skin, Brittle hair, Sparse hair	OMIM:614940
Myotonia, Potassium-Aggravated		Apneic episodes in infancy, Stridor, Laryngospasm	OMIM:608390
Idiopathic Bronchiectasis		Crackles, Recurrent lower respiratory tract infections, Cachexia, Acute infectious pneumonia, Dys...	ORPHA:60033
Igg4-Related Aortitis		Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Pierre Robin Syndrome		Feeding difficulties in infancy, Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:261800
Celiac Disease, Susceptibility To, 1		Diarrhea, Postnatal growth retardation, Weight loss, Abdominal distention, Abdominal pain, Celiac...	OMIM:212750
Trichothiodystrophy 4, Nonphotosensitive		Microcornea, Small nail, Trichorrhexis nodosa, Concave nail, Nail dystrophy, Sparse eyelashes, Na...	OMIM:234050
Immunodeficiency 50		Eczematoid dermatitis, Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent re...	OMIM:300988
Fg Syndrome 3		Sparse hair, Frontal upsweep of hair, Fine hair, Pyloric stenosis	OMIM:300406
Pediatric Systemic Lupus Erythematosus		Discoid lupus rash, Nephritis, Alopecia, Diarrhea, Abdominal distention, Vomiting, Microangiopath...	ORPHA:93552
Liang-Wang Syndrome		Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Downturned corners of mout...	OMIM:618729
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome		Narrow mouth, Decreased body weight, Epicanthus, Sparse hair, Short nose, Downturned corners of m...	ORPHA:391408
Johnson Neuroectodermal Syndrome		Severe short stature, Alopecia, Failure to thrive, Downslanted palpebral fissures, Absent eyelash...	ORPHA:2316
Agammaglobulinemia 3, Autosomal Recessive		Diarrhea, Failure to thrive, Recurrent otitis media, Recurrent bronchitis, Absent circulating B c...	OMIM:613501
Immunodeficiency With Hyper-Igm, Type 2		Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Onychotrichodysplasia And Neutropenia		Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C...	OMIM:258360
Hemifacial Atrophy, Progressive		Patchy alopecia, Tongue atrophy, Poliosis	OMIM:141300
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome		Delayed cranial suture closure, Lymphopenia, Blepharophimosis, Sparse hair, Cataract, Severe post...	OMIM:620005
Trichotillomania		Alopecia	OMIM:613229
Trichothiodystrophy 8, Nonphotosensitive		Sparse hair, Sparse eyebrow, Trichorrhexis nodosa, Cutis laxa, Woolly hair	OMIM:619691
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	<

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us