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Gene: Dsg4 MGI:2661061

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

desmoglein 4

Synonyms:

CDHF13, lah

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 Dsg4 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 Dsg4 (3 diseases)
Human diseases predicted to be associated with Dsg4 (1397 diseases)

The table below shows human diseases associated to Dsg4 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Sparse hair, Pili torti	OMIM:607903
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573

The table below shows human diseases predicted to be associated to Dsg4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Hypotrichosis 15	Sparse scalp hair	OMIM:620177
Hypotrichosis 2	Sparse scalp hair	OMIM:146520
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Sparse pubic hair, Perifollicular hy...	ORPHA:505
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Epidermal acanthosis, Allergic rhi...	ORPHA:90368
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Hair-nail ectodermal dysplasia, Absent eyelashes, Onychol...	OMIM:602032
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Palmoplantar kera...	ORPHA:2722
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Bathing Suit Ichthyosis	Alopecia, Parakeratosis, Epidermal acanthosis, Thickened skin, Palmoplantar hyperkeratosis, Hypoh...	ORPHA:100976
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Generalized hirsutism	ORPHA:2297
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Sparse hair, Pili torti	OMIM:607903
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair, Cutaneous photosensitivity	OMIM:234030
Erosive Pustular Dermatosis Of The Scalp	Abnormal hair morphology, Scarring alopecia of scalp, Erythema	ORPHA:222
Anonychia With Flexural Pigmentation	Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Anonychia	ORPHA:69125
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Peeling Skin Syndrome 3	Abnormal hair morphology, Erythema, White scaling skin	OMIM:616265
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Scaling skin on fingertip, Parakeratosis, Epidermal acanthosis, Hypergranulosis, Palmop...	ORPHA:79395
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Anhidrosis, Absent eyelashes, Palmoplantar hyperkeratosis, Scaling skin, Nail dys...	OMIM:604536
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia	ORPHA:346
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Parakeratosis, Epidermal acanthosis, Flexion contracture, Palmoplantar hyperkeratosis, ...	OMIM:242300
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Congenital b...	OMIM:607602
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa...	OMIM:617294
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Kerion Celsi	Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ...	ORPHA:499
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Generalized reticulate brown pigmentation, ...	ORPHA:158681
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy	OMIM:616487
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Absent pubic hair, Cutis laxa,...	ORPHA:2269
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Candidiasis, Familial, 1	Alopecia, Chronic mucocutaneous candidiasis	OMIM:114580
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Parana Hard Skin Syndrome	Hyperkeratosis, Generalized hirsutism, Thickened skin	ORPHA:2812
Erythrokeratodermia Variabilis Et Progressiva 2	Erythema, Hypertrichosis	OMIM:617524
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Perifolliculitis, Alopecia of scalp	OMIM:260910
Bazex Syndrome	Parakeratosis, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Na...	ORPHA:166113
Ichthyosis With Confetti	Pruritus, Palmoplantar hyperkeratosis, Ichthyosis, Hypoplastic nipples, Scaling skin, Erythroderm...	OMIM:609165
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Olmsted Syndrome 2	Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar h...	OMIM:619208
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N...	OMIM:212360
Ichthyosis Hystrix Of Curth-Macklin	Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I...	ORPHA:79503
Acrokeratosis Verruciformis	Ridged nail, Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkera...	OMIM:101900
Netherton Syndrome	Sparse scalp hair, Failure to thrive, Brittle hair, Recurrent skin infections, Allergic rhinitis,...	OMIM:256500
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the...	ORPHA:79397
Dissecting Cellulitis Of The Scalp	Pruritus, Recurrent skin infections, Abnormal hair morphology	ORPHA:345
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Palmoplantar er...	OMIM:104100
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Hair-nail ectodermal dysplasia, Abno...	OMIM:614929
Uncombable Hair Syndrome 2	Uncombable hair, Pili canaliculi	OMIM:617251
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo...	ORPHA:1808
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Woolly hair, Palmoplantar keratoderma	OMIM:610476
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Concave nail, Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperk...	ORPHA:530838
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Pruritus, Palmoplanta...	ORPHA:89838
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te...	ORPHA:2891
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy...	OMIM:615821
Congenital Ichthyosiform Erythroderma	Alopecia, Keratitis, Pruritus, Hypohidrosis, Ichthyosis, Palmoplantar keratoderma, Erythroderma, ...	ORPHA:79394
Olmsted Syndrome 1	Subungual hyperkeratosis, Autoamputation of digits, Parakeratosis, Pruritus, Flexion contracture,...	OMIM:614594
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern...	ORPHA:79147
Ichthyosis Prematurity Syndrome	Epidermal acanthosis, Allergic rhinitis, Pruritus, Generalized ichthyosis, Follicular hyperkerato...	OMIM:608649
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Peeling Skin Syndrome 4	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Ich...	OMIM:607936
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Pru...	ORPHA:79399
Trichothiodystrophy 7, Nonphotosensitive	Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat...	OMIM:618546
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Peeling Skin Syndrome 1	Brittle hair, Pruritus, Onycholysis, Nail dystrophy, Scaling skin, Erythroderma, Palmoplantar hyp...	OMIM:270300
Dystrophic Epidermolysis Bullosa Pruriginosa	Scarring, Pruritus, Increased circulating IgE level, Hyperkeratosis, Atrophic scars, Nail dystrop...	ORPHA:89843
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Posterior blepha...	OMIM:300918
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Gen...	ORPHA:2890
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Patchy alopecia, Reduced epidermal extracellular matrix protein 1 protein express...	OMIM:247100
Ectodermal Dysplasia 13, Hair/Tooth Type	Brittle hair, Sparse eyelashes, Low anterior hairline, Ectodermal dysplasia, Thin eyebrow	OMIM:617392
Classic Mycosis Fungoides	Alopecia, Skin rash, Eczema, Pruritus, Splenomegaly, Erythema, Hypopigmented skin patches, Skin u...	ORPHA:2584
L-Ferritin Deficiency	Alopecia	OMIM:615604
Erythrokeratodermia Variabilis	Alopecia, Skin rash, Hypermelanotic macule, Abnormal testis morphology, Tapered finger, Abnormal ...	ORPHA:317
Aredyld	Generalized hypotrichosis	OMIM:207780
Lamellar Ichthyosis	Pruritus, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Sparse hair, Erythroderma, Chronic...	ORPHA:313
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Moynahan Syndrome	Sparse hair, Hyperkeratosis, Alopecia	ORPHA:2574
Netherton Syndrome	Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology,...	ORPHA:634
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Pili Torti, Early-Onset	Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr...	OMIM:261900
Hypertrichosis, Congenital Generalized	Congenital, generalized hypertrichosis, Hirsutism	OMIM:307150
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Idiopathic Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Pruritus,...	ORPHA:90158
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey...	OMIM:601952
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi...	OMIM:224750
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Sparse hair, Nail dystrophy, Recurre...	OMIM:618625
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Sparse eyebrow, Sparse scalp hair, Absent eyebrow, Sparse eyelashes	OMIM:620199
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Failure to thrive, Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immun...	ORPHA:98813
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Hypohidrosis, Palmoplan...	OMIM:618535
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Nail dystrophy	OMIM:131850
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Parakeratosis, Epidermal acanthosis, Sparse eyelashes, Thick hair, Pruritus, Sparse eye...	OMIM:607626
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Hypohidrosis, Fine hair, Abno...	ORPHA:248
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Carvajal Syndrome	Woolly hair, Patchy palmoplantar hyperkeratosis	ORPHA:65282
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hypohidros...	OMIM:602400
Sézary Syndrome	Alopecia, Abnormal immunoglobulin level, Pruritus, Splenomegaly, Lymphadenopathy, Palmoplantar ke...	ORPHA:3162
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers...	ORPHA:1008
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Epidermal acanthosis, Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkerat...	OMIM:616295
Ectodermal Dysplasia 5, Hair/Nail Type	Sparse scalp hair, Dystrophic fingernails, Absent toenail	OMIM:614927
Ulerythema Ophryogenesis	Acne, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, Contact dermat...	ORPHA:3406
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll...	OMIM:616099
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Woolly hair, Palmoplantar hyperkeratosi...	OMIM:605676
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Pustule, Erythema, Oli...	OMIM:614204
Ichthyosis, Congenital, Autosomal Recessive 2	Anhidrosis, Alopecia, Epidermal acanthosis, Thin nail, Hypergranulosis, Abnormal hair morphology,...	OMIM:242100
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Naxos Disease	Sparse scalp hair, Curly hair, Abnormality of hair texture, Hyperhidrosis, Palmoplantar keratoder...	ORPHA:34217
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Epidermal acanthosis, Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Hyperhidrosis, ...	OMIM:148700
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Angular cheilitis, Sparse axillary hai...	OMIM:613102
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Alopecia, Inflammatory abnormality of the skin, Lipoatrophy,...	ORPHA:90156
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker...	ORPHA:2897
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis of fingerna...	ORPHA:2251
Ectodermal Dysplasia-Syndactyly Syndrome 2	Hyperhidrosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosif...	OMIM:613576
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic oral candidiasis, Psoriasiform dermatitis, Failure to thrive in infancy, Decreased lympho...	OMIM:606367
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Pili torti, Fine hair	ORPHA:1573
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse...	OMIM:129490
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A...	OMIM:615508
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery...	ORPHA:64745
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Sparse hair, Widow's peak, Atopic dermatitis, Thick eyebrow	OMIM:606242
Vulvovaginal Gingival Syndrome	Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema, Abnormality of tumor necros...	ORPHA:83453
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Increased circulating IgE l...	OMIM:618282
Keratosis Pilaris Atrophicans	Absent eyelashes, Erythema, Sparse eyebrow	OMIM:604093
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu...	OMIM:617571
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Brittle hair, Prematurely aged appearance, Redundant skin, A...	ORPHA:2963
Palmoplantar Keratoderma, Nagashima Type	Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis...	OMIM:615598
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor...	ORPHA:494
Trichothiodystrophy 1, Photosensitive	Brittle hair, Flexion contracture, Sparse hair, Tiger tail banding, Decreased circulating IgG lev...	OMIM:601675
Epidermolytic Palmoplantar Keratoderma	Epidermal acanthosis, Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, ...	ORPHA:2199
Alopecia-Intellectual Disability Syndrome 4	Ichthyosis, Alopecia, Erythroderma	OMIM:618840
Mastocytosis, Cutaneous	Urticaria, Erythema, Edema, Telangiectasia macularis eruptiva perstans	OMIM:154800
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke...	ORPHA:79151
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Dry skin, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Alopecia of scalp	OMIM:618373
Vibratory Urticaria	Urticaria, Facial erythema, Flushing	OMIM:125630
Complex Regional Pain Syndrome	Abnormality of hair growth, Edema of the upper limbs, Slow-growing nails, Erythema, Pedal edema, ...	ORPHA:83452
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Coarse hair, Brittle hair, Hidrotic ectodermal dysplasia	ORPHA:1883
Flynn-Aird Syndrome	Hyperkeratosis, Alopecia, Alopecia of scalp	OMIM:136300
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Fragile nails, Fine hair	ORPHA:500166
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Epidermal acanthosis, Ectodermal dysplasia, Palmoplantar keratoderma, Nail dystrop...	OMIM:615225
Porokeratosis Plantaris Palmaris Et Disseminata	Porokeratosis, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratotic papule, Generalized abnormal...	ORPHA:737
Trichothiodystrophy 6, Nonphotosensitive	Tiger tail banding, Brittle hair, Slow-growing hair, Dry skin	OMIM:616943
Kid Syndrome	Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ...	ORPHA:477
Acrogeria	Lipoatrophy, Prematurely aged appearance, Telangiectasia of the skin, Small hand, Skin ulcer, Fin...	ORPHA:2500
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Cutis marmorata, Progeroid facial appearance, Sparse eyebrow, Re...	OMIM:300953
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis, Onycho...	ORPHA:525
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sclerodactyly, Sparse eyebrow, ...	ORPHA:1010
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis	ORPHA:464318
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri...	OMIM:117850
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythem...	OMIM:612843
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Epidermal acanthosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Scal...	OMIM:612281
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Cutaneous Mastocytoma	Maculopapular exanthema, Telangiectasia of the skin, Hypermelanotic macule, Pruritus, Thickened s...	ORPHA:79455
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis, Nail dystrophy	OMIM:175900
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair	ORPHA:401911
Odontoonychodermal Dysplasia	Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Hyperhidrosis, Dystrophic fingernails, Thin n...	OMIM:257980
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Eczema, Hypohidrosis, Thin skin, Sparse hair, Sparse body hair	ORPHA:1810
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Psoriasiform lesion, Increased circulating IgA level, Increased circulating IgE level, ...	ORPHA:169154
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Anhidrosis, Dystrophic toenail, Palmoplantar hyperkeratosis	OMIM:619209
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno...	ORPHA:129
Aquagenic Palmoplantar Keratoderma	Abnormal phalangeal joint morphology of the hand, Excessive skin wrinkling on dorsum of hands and...	ORPHA:498359
Porphyria Cutanea Tarda	Facial hypertrichosis, Scleroderma, Alopecia, Onycholysis	OMIM:176100
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Basan Syndrome	Palmoplantar keratoderma, Epidermal acanthosis, Nail dystrophy, Palmoplantar hypohidrosis	OMIM:129200
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin	OMIM:146590
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Dermoodontodysplasia	Sparse scalp hair, Hypohidrosis, Thin skin, Fingernail dysplasia, Trichodysplasia, Dry skin, Toen...	ORPHA:1660
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Brittle hair, Absent nipple, Hypohidrotic ectodermal dysplasia, Sparse hair, Dry skin, Absent hair	OMIM:614940
Psoriasis 2	Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:602723
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Palmoplant...	OMIM:194300
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails, Palmar hyperhidrosis	OMIM:226650
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Nail dystrophy, Ichthyosis, Sparse hair, Tiger tail banding	OMIM:619692
Bazex-Dupre-Christol Syndrome	Eczema, Trichorrhexis nodosa, Atopic dermatitis, Hypohidrosis, Coarse hair, Sparse hair, Trichoep...	OMIM:301845
Pachyonychia Congenita 2	Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Angular cheilitis, Sparse eyebrow, Palmopl...	OMIM:167210
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Ichthyosis, ...	ORPHA:35173
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Hypohidrosis, P...	ORPHA:158668
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Hypohidrosis, Dystrophic fingernails, Dys...	ORPHA:1882
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/...	ORPHA:1818
Acral Peeling Skin Syndrome	Eczema, Erythema, Scaling skin, Ichthyosis, Hyperpigmentation of the skin, Excessive wrinkling of...	ORPHA:263534
Darier Disease	Acrokeratosis, Pruritus, Abnormal hair morphology, Thickened skin, Palmoplantar keratoderma, Skin...	ORPHA:218
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s...	OMIM:617337
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Recurrent loss of toenails and fingernails, Erythema, Telangiectasia, Thin skin, Cutaneous photos...	ORPHA:158673
Cortisone Reductase Deficiency 1	Alopecia, Acne, Hirsutism	OMIM:604931
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Alopecia totalis, Nail dystrophy, Palmoplantar keratoderma, Lack of skin elasticity	ORPHA:1366
Inflammatory Skin And Bowel Disease, Neonatal, 2	Epidermal acanthosis, Pustule, Increased circulating IgE level, Recurrent pneumonia, Long eyelash...	OMIM:616069
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop...	ORPHA:79153
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dystrophy, Anonychia, Sparse body hair	ORPHA:79402
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Ichthyosis, Palmoplantar keratoderma, Conjunctivitis, Erythroderma, Sparse hair, Fragil...	OMIM:242150
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Hyperkeratosis-Hyperpigmentation Syndrome	Multiple cafe-au-lait spots, Hyperkeratosis, Irregular hyperpigmentation, Cutaneous photosensitivity	ORPHA:1336
Ichthyosis, Congenital, Autosomal Recessive 13	Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:617574
Trichohepatoenteric Syndrome 2	Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:614602
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Cutaneous photosensitivity, Porokeratosis	ORPHA:735
Pachyonychia Congenita	Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyp...	ORPHA:2309
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Hypohidrosis, Fine hair, Hyperkeratosis, On...	ORPHA:1028
Oliver-Mcfarlane Syndrome	Sparse hair, Alopecia, Long eyelashes, Long eyebrows	OMIM:275400
Omenn Syndrome	Alopecia, Failure to thrive, Pneumonia, Pruritus, Thickened skin, Short toe, Splenomegaly, Thyroi...	ORPHA:39041
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Nail dysplasia, Erysipelas	OMIM:615704
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosifor...	OMIM:604777
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythema, Follicu...	OMIM:308800
Erythrokeratodermia Variabilis Et Progressiva 3	Epidermal acanthosis, Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar kerato...	OMIM:617525
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ...	OMIM:234050
Peeling Skin Syndrome 5	Hyperkeratosis, Epidermal acanthosis, Scaling skin	OMIM:617115
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair	ORPHA:2985
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Alopecia of scalp, Trichodysplasia	ORPHA:79129
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital bullous...	OMIM:113800
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Epidermal acanthosis	OMIM:615028
Angioma Serpiginosum	Erythema, Vascular skin abnormality	ORPHA:95429
Peeling Skin Syndrome 6	Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Hypohidrosis, Aplasia/Hypoplasia of...	ORPHA:238468
Acral Self-Healing Collodion Baby	Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal...	ORPHA:281127
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Curly hair, Hyperhidrosis, Webbed neck	OMIM:615279
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Hypodontia-Dysplasia Of Nails Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,...	ORPHA:2228
Hereditary Mucoepithelial Dysplasia	Sparse hair, Hyperkeratosis, Alopecia, Fine hair	ORPHA:1839
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis	OMIM:616390
Immunodeficiency 58	Colitis, Scaling skin, Chronic otitis media, Recurrent cutaneous abscess formation, Psoriasiform ...	OMIM:618131
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Ichthyosis, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Palmoplantar Keratoderma, Epidermolytic, 1	Plantar hyperkeratosis, Increased circulating IgE level, Palmoplantar hyperkeratosis, Palmar hype...	OMIM:144200
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Leopard Syndrome 3	Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Webbed neck, Dry skin	OMIM:613707
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal edema, Angioedema, Eryth...	ORPHA:100057
Nicolaides-Baraitser Syndrome	Alopecia, Sandal gap, Eczema, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Cryp...	ORPHA:3051
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep...	ORPHA:87503
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Pruritus, Abnormal hair morphology, Paronychia, Increased circu...	ORPHA:2314
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis	ORPHA:139414
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Anhidrosis, Alopecia, Abnormal fingernail morphology, Thickened skin, Erythema, Skin ulcer, Palmo...	ORPHA:659
Lupus Erythematosus Tumidus	Deep dermal perivascular inflammatory infiltrate, Scarring, Depigmentation/hyperpigmentation of s...	ORPHA:90283
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Woolly hair, Palmoplantar keratoderma	OMIM:611528
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp...	ORPHA:2200
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Orthostatic Hypotensive Disorder, Streeten Type	Bruising susceptibility, Facial erythema	OMIM:143850
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplan...	ORPHA:312
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Syndromic X-Linked Intellectual Disability 7	Sparse body hair	ORPHA:85274
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis, Epidermal acanthosis	ORPHA:199267
Cutaneous Collagenous Vasculopathy	Prominent superficial blood vessels, Erythema, Diffuse telangiectasia, Bruising susceptibility, V...	ORPHA:280779
Diffuse Cutaneous Mastocytosis	Mixed hypo- and hyperpigmentation of the skin, Pruritus, Thickened skin, Abnormality of the splee...	ORPHA:79456
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Sparse hair, Alopecia, Long eyelashes	ORPHA:3363
Congenital Disorder Of Glycosylation, Type Iq	Eczema, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin, Hypertrichosis	OMIM:612379
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis	OMIM:609638
Menkes Disease	Sparse hair, Alopecia, Brittle hair, Cutis laxa	OMIM:309400
Erythrokeratodermia Variabilis Et Progressiva 1	Epidermal acanthosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generali...	OMIM:133200
Prolidase Deficiency	Abnormality of retinal pigmentation, Arachnodactyly, Abnormal fingernail morphology, Pruritus, Sp...	ORPHA:742
Dowling-Degos Disease 2	Reticular hyperpigmentation, Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis	OMIM:615327
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Parakeratosis, Absent middle phalanx of 3rd finger, Flexion contracture, C...	OMIM:308050
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow	ORPHA:79133
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Skin ulcer, Fine hair, Hypohidrosis, Hyperkeratosis, Keratoconjun...	ORPHA:1806
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Alopecia, Recurrent skin infections, Recurrent pneumonia, Pyoderma gangrenosu...	OMIM:616576
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Copper Deficiency, Familial Benign	Curly hair, Early balding, Seborrheic dermatitis	OMIM:121270
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca...	ORPHA:294023
Focal Facial Dermal Dysplasia 3, Setleis Type	Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes	OMIM:227260
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Glomerulonephritis, Eczema, Increased circulating IgE level, Hepatitis, Lymphadenopathy...	OMIM:304790
Noonan Syndrome 8	Curly hair, Eczema, Large for gestational age, Cryptorchidism, Hyperkeratosis, Webbed neck, Palmo...	OMIM:615355
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia, Ichthyosis	OMIM:242510
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Abnormality...	ORPHA:47
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Pustule, Paronychia, Increased circulating IgE level, Perioral erythema, Eryth...	OMIM:614328
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Skin ulcer,...	ORPHA:90280
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Lymphadenopathy, He...	OMIM:618982
Porphyria Cutanea Tarda	Recurrent bacterial skin infections, Viral hepatitis, Hyperpigmentation of the skin, Scarring, Po...	ORPHA:101330
Trichothiodystrophy 8, Nonphotosensitive	Eczema, Sparse eyebrow, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:619691
Naxos Disease	Curly hair, Subungual hyperkeratosis, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse...	OMIM:601214
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis,...	OMIM:610768
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Increased...	ORPHA:277
Ichthyosis, Congenital, Autosomal Recessive 7	Epidermal acanthosis, Hypergranulosis, Erythroderma, Palmoplantar keratoderma, Ichthyosis	OMIM:615022
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth...	ORPHA:79481
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Brittle hair, Nail dystrophy	ORPHA:75389
Cutaneous Photosensitivity And Colitis, Lethal	Early cutaneous photosensitivity, Erythema	OMIM:219095
Jessner Lymphocytic Infiltration Of The Skin	Cutaneous photosensitivity, Erythema	ORPHA:33314
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Thickened skin, Fine hair, Ichthyosis, Aca...	ORPHA:2221
Atrophoderma Vermiculata	Pruritus, Abnormal epidermal morphology, Erythema, Atrophic scars, Follicular hyperkeratosis, Hyp...	ORPHA:79100
Rhizomelic Chondrodysplasia Punctata	Alopecia, Dry skin, Sparse body hair, Ichthyosis	ORPHA:177
Ichthyosis, Congenital, Autosomal Recessive 9	Epidermal acanthosis, Hypergranulosis, Hypohidrosis, Hyperkeratosis, Congenital nonbullous ichthy...	OMIM:615023
Dowling-Degos Disease 4	Pruritus, Epidermal acanthosis, Hypergranulosis	OMIM:615696
Recon Progeroid Syndrome	Arachnodactyly, Proximal placement of thumb, Progeroid facial appearance, Hyperconvex thumb nails...	OMIM:620370
Fibrodysplasia Ossificans Progressiva	Alopecia	ORPHA:337
Dermoodontodysplasia	Dry skin, Thin skin, Nail dysplasia, Trichodysplasia	OMIM:125640
Ramon Syndrome	Hyperkeratosis, Generalized hirsutism	ORPHA:3019
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Tubulointerstitial nephritis, Colitis, Alopecia, Psoriasiform dermatitis, Hepatitis, Ly...	ORPHA:37042
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Lipoid Proteinosis	Acne, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp	ORPHA:530
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Progressive Symmetric Erythrokeratodermia	Erythema	ORPHA:316
Chromomycosis	Keratitis, Pruritus, Hyperparakeratosis, Hypopigmented skin patches, Atypical scarring of skin, H...	ORPHA:182
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Inguinal hernia, Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform eryt...	OMIM:614457
Erythrokeratodermia Variabilis Et Progressiva 4	Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou...	OMIM:617526
Nicolaides-Baraitser Syndrome	Dry hair, Low anterior hairline, Short metatarsal, Prominent interphalangeal joints, Sparse hair,...	OMIM:601358
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Eczema, Failure to thrive in infancy, Increased circulating IgE level,...	OMIM:617241
Linear Atrophoderma Of Moulin	Pruritus, Scleroderma, Inflammatory abnormality of the skin, Linear hyperpigmentation	ORPHA:140933
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Cardiofaciocutaneous Syndrome 2	Sparse hair, Curly hair, Absent eyebrow, Fine hair	OMIM:615278
Lelis Syndrome	Yellow nails, Acanthosis nigricans, Absent lower eyelashes, Palmoplantar hyperkeratosis, Hypohidr...	ORPHA:140936
Dermatoleukodystrophy	Large hands, Thickened skin, Premature skin wrinkling, Progeroid facial appearance	OMIM:221790
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Congenital Disorder Of Glycosylation, Type If	Flexion contracture, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive	OMIM:609180
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos...	ORPHA:454
Systemic Lupus Erythematosus 17	Alopecia, Malar rash, Optic neuritis, Myelitis	OMIM:301080
Neonatal Lupus Erythematosus	Parakeratosis, Skin rash, Maculopapular exanthema, Splenomegaly, Malar rash, Hyperkeratosis, Cuta...	ORPHA:398124
Cutis Laxa, Autosomal Recessive, Type Iia	Brittle hair, Redundant skin, Abnormality of hair texture, Cutis laxa, Excessive wrinkled skin, C...	OMIM:219200
Ectodermal Dysplasia/Short Stature Syndrome	Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Anonychia	OMIM:616029
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation, Hyperkeratosis	ORPHA:315
Keratolytic Winter Erythema	Erythema	OMIM:148370
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Aicardi-Goutieres Syndrome 5	Chilblains, Flexion contracture, Increased circulating interferon-gamma concentration, Scaling sk...	OMIM:612952
Mal De Meleda	Perioral erythema, Fragile nails	OMIM:248300
Panniculitis-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Erythema, Vasculitis in the skin	ORPHA:90159
Erythema Of Acral Regions	Erythema	OMIM:227000
Elastoderma	Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa	ORPHA:228240
Dermatopathia Pigmentosa Reticularis	Alopecia of scalp, Nail dystrophy, Palmoplantar hyperkeratosis, Hypohidrosis	OMIM:125595
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Cheilitis, Lymphad...	ORPHA:293173
Erythema Palmare Hereditarium	Erythema	OMIM:133000
Benign Chronic Pemphigus	Erythema	OMIM:169600
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema	Erythema migrans	OMIM:609352
Annular Erythema	Erythema	OMIM:106500
Rapp-Hodgkin Syndrome	Decreased number of sweat glands, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Spar...	OMIM:129400
Erythema Nodosum, Familial	Erythema	OMIM:132990
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair	ORPHA:1006
Cutaneous Small Vessel Vasculitis	Urticaria, Erythema, Cutis marmorata, Purpura	ORPHA:889
Brachycephaly, Trichomegaly, And Developmental Delay	Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow	OMIM:617412
Ifap Syndrome 2	Ichthyosis follicularis, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctiviti...	OMIM:619016
Trichothiodystrophy 3, Photosensitive	Tiger tail banding, Brittle hair, Cutaneous photosensitivity, Trichorrhexis nodosa	OMIM:616395
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Lipoatrophy, Prematurely aged appearance, Cryptorchidism, Dry skin, Low p...	ORPHA:2617
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Increased circulating IgE level, Recurrent pneumonia, Erythema, Chronic mucocutaneous ...	OMIM:147060
Pressure-Induced Localized Lipoatrophy	Reduced subcutaneous adipose tissue, Erythema	ORPHA:90160
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Xq27.3Q28 Duplication Syndrome	Sparse body hair	ORPHA:261483
White Sponge Nevus 2	Hyperparakeratosis, Epidermal acanthosis	OMIM:615785
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Splenomegaly, I...	OMIM:602450
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Progressive hyperpigmentation, Epidermal acanthosis, Eczema, Allerg...	ORPHA:330064
Dowling-Degos Disease	Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin...	ORPHA:79145
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia, Generalized lymphadenopathy, Reduced natural killer cell activity, Follicular hyperplas...	OMIM:615559
Proteus Syndrome	Epidermal acanthosis, Splenomegaly, Depigmentation/hyperpigmentation of skin, Multiple lipomas, H...	OMIM:176920
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia	OMIM:203550
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Hypohidrosis	ORPHA:181
Non-Epidermolytic Palmoplantar Keratoderma	Erythema, Skin ulcer	ORPHA:2337
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin	OMIM:618527
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Inguinal hernia, Superficial dermal perivascular inflammatory infiltrate, Epidermal acanthosis, E...	ORPHA:83617
Porphyria Cutanea Tarda, Type I	Eczema, Hypertrichosis	OMIM:176090
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Myositis, Failure to thrive, Skin rash, Cutis marmorata, Increased...	OMIM:615934
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Abs...	OMIM:148210
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Abnormal ...	ORPHA:678
Drug-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Erythema	ORPHA:90157
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Palmoplantar hyperkeratosis, Hyperhidrosis, Sparse ...	OMIM:615280
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp...	OMIM:305100
Epidermolysis Bullosa Acquisita	Pruritus, Abnormal hair morphology, Atypical scarring of skin, Inflammation of the large intestin...	ORPHA:46487
Ataxia-Telangiectasia	Hypopigmentation of hair, Prematurely aged appearance, Telangiectasia of the skin, Decreased circ...	ORPHA:100
Hydroa Vacciniforme	Erythema, Hydroa vacciniforme, Telangiectasia of the skin, Cutaneous photosensitivity	ORPHA:330058
Maculopapular Cutaneous Mastocytosis	Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flushing	ORPHA:79457
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Redundant skin, Highly arched eyebrow, Abnormal hair pattern, Prematurely...	ORPHA:1807
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Interstitial pn...	ORPHA:454831
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczema	OMIM:617443
Cardiofaciocutaneous Syndrome	Brittle hair, Redundant skin, Sparse hair, Dystrophic fingernails, Abnormal morphology of ulna, A...	ORPHA:1340
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Sparse eyebrow, Brittle hair, Polyhydramnios	OMIM:618810
Incontinentia Pigmenti	Ridged nail, Uveitis, Abnormality of skin pigmentation, Coarse hair, Pallor, Sparse hair, Atrophi...	OMIM:308300
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Failure to thrive, Sparse facial hair, Small for gestational age, Sparse axillary hair, Progeroid...	OMIM:608154
Pachydermoperiostosis	Abnormal hair quantity, Osteomyelitis, Acne, Abnormal fingernail morphology, Abnormal hair patter...	ORPHA:2796
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Ichthyosis, Acan...	ORPHA:59303
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Membranoproliferative glomerulonep...	OMIM:137940
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis...	OMIM:617638
Craniofaciofrontodigital Syndrome	Prominent superficial veins, Thick hair, Large for gestational age, Low anterior hairline, Cutis ...	ORPHA:363705
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Hypohidrosis, Short eyelashes, Thin skin, Palmar hyperkeratosi...	OMIM:150400
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Du...	ORPHA:39812
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Scaling skin, Atrichia, Periungual erythema, Dystrophic fingernails, Abs...	OMIM:308205
Cronkhite-Canada Syndrome	Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Cachexia, Tapered finger...	ORPHA:2930
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc...	ORPHA:2457
Leopard Syndrome 2	Curly hair, Dry skin, Webbed neck	OMIM:611554
Gand Syndrome	Sparse hair	OMIM:615074
Huriez Syndrome	Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail	OMIM:181600
Pachyonychia Congenita 1	Follicular hyperkeratosis, Nail dystrophy, Palmoplantar hyperkeratosis, Onychogryposis	OMIM:167200
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Decreased adipose tissue around neck, Brittle hair, Prominent superficial veins, Proger...	OMIM:608612
Fg Syndrome 3	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:300406
Transgrediens Et Progrediens Palmoplantar Keratoderma	Recurrent bacterial skin infections, Plantar hyperkeratosis, Angular cheilitis, Hyperconvex nail,...	ORPHA:495
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Severe Combined Immunodeficiency, X-Linked	Failure to thrive, Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumoni...	OMIM:300400
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair	OMIM:617988
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypopigmentation of the skin, Alopecia, Recurrent skin infections, Scarring, Hyperpigmentation of...	ORPHA:79396
Immunodeficiency, Common Variable, 11	Failure to thrive, Increased circulating IgE level, Clubbing of fingers, Inflammation of the larg...	OMIM:615767
Alpha-Heavy Chain Disease	Alopecia	ORPHA:100025
Mucoepithelial Dysplasia, Hereditary	Alopecia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis...	OMIM:158310
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Ichthyosis	OMIM:215100
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo...	ORPHA:158687
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Cutis marmorata,...	OMIM:301220
Omenn Syndrome	Alopecia, Pneumonia, Thickened skin, Splenomegaly, Lymphadenopathy, Hypoplasia of the thymus, Ery...	OMIM:603554
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Lipoatrophy, Thin skin, Sparse hair, Failure to thrive, Hypopigmentation of the skin, Aplasia/Hyp...	ORPHA:261304
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Abnormal hair morpholo...	ORPHA:1979
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti...	ORPHA:217390
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Fine hair, Nail pits, Hypoplastic nipples...	ORPHA:978
Immunodeficiency 103, Susceptibility To Fungal Infections	Deep dermatophytosis, Increased circulating IgE level, Lymphadenopathy, Chronic oral candidiasis	OMIM:212050
Amaurosis-Hypertrichosis Syndrome	Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow	ORPHA:1021
Lichen Planus Pemphigoides	Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis, Abnormality of the nail	ORPHA:254478
Weaver Syndrome	Deep-set nails, Abnormal fingernail morphology, Redundant skin, Thin nail, Hypoplastic toenails, ...	ORPHA:3447
Zinc Deficiency, Transient Neonatal	Alopecia, Eczema	OMIM:608118
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eczema, Keratitis, Increased circulating IgE level, Clubbing, Bronchiectasis, Recurrent otitis me...	OMIM:618523
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal dental enamel morpho...	ORPHA:816
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Brittle hair, Cutis marmorata	OMIM:236200
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Hypotrichosis 3	Abnormal eyelash morphology, Sparse scalp hair, Abnormality of the nail, Abnormal sweat gland mor...	OMIM:613981
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Hypohidrosis, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormal toenail morphology	ORPHA:1005
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Hyperhidrosis, High anterior hairline, Long eyelashes, Fine hair	ORPHA:231137
Trichodermodysplasia-Dental Alterations Syndrome	Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the...	ORPHA:3353
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Pneumonia, Tapered finger, Cryptorchidism, Spotty hyp...	ORPHA:1867
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Brittle hair, Nail dystrophy	ORPHA:93947
Pituitary Adenoma 4, Acth-Secreting	Striae distensae, Poor wound healing, Edema, Facial erythema, Thin skin, Ecchymosis, Bruising sus...	OMIM:219090
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Sparse scalp hair, Fine hair	ORPHA:2324
Keratolytic Winter Erythema	Erythema	ORPHA:50943
Myoclonic-Astatic Epilepsy	Syndactyly, Premature skin wrinkling, Frontal balding	ORPHA:1942
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Crusting erythematous dermatitis, Epidermal acanthosis, Cutis laxa	ORPHA:79148
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Anhidrosis, Absent eyelashes,...	OMIM:614941
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Sparse scalp hair	ORPHA:2611
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, T...	OMIM:607823
Odontotrichoungual-Digital-Palmar Syndrome	Nail dystrophy, Nail dysplasia, Abnormality of hair texture	OMIM:601957
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Hypohidrosis, Dystrophic...	ORPHA:3253
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Costello Syndrome	Deep-set nails, Abnormal fingernail morphology, Redundant skin, Concave nail, Abnormal hair morph...	ORPHA:3071
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Long toe, Sparse scalp hair, Sparse eyelashes, Arachnodactyly, Lipodystrophy, Progeroid facial ap...	ORPHA:75496
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar keratoderma, Leukonychia, Palmoplantar hyperkeratosis	ORPHA:2698
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Plantar telangiectasia, Sparse scalp hair, Alopecia, Absent eyebrow, Cutis marmorata, Predominant...	ORPHA:69735
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Excessive wrinkled s...	ORPHA:3322
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Dry skin, Urticaria, Ichthyosis, Failure to thrive	ORPHA:1954
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, ...	OMIM:619752
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair	OMIM:273390
Short Syndrome	Inguinal hernia, Prominent superficial veins, Lipodystrophy, Lipoatrophy, Small for gestational a...	OMIM:269880
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Low posterior hairline	ORPHA:2183
Sulfite Oxidase Deficiency, Isolated	Eczema, Fine hair	OMIM:272300
Self-Improving Dystrophic Epidermolysis Bullosa	Abnormality of the subungual region, Gastrointestinal inflammation, Abnormality of skin pigmentat...	ORPHA:79411
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Lipoatrophy, Absent eyelashes, Premature graying of hair, Sparse hair, Scleroderm...	ORPHA:363618
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Hyperkeratosis with erythema, Coarse hair	OMIM:118650
Trichothiodystrophy	Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Multiple joint contractures, Conj...	ORPHA:33364
Epidermolysis Bullosa, Junctional 5A, Intermediate	Absent pubic hair, Nail dystrophy, Absent axillary hair, Onycholysis of distal fingernails, Alope...	OMIM:619816
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, Congenital ichthyosiform ery...	OMIM:302960
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Sparse eyebrow, Splenomegaly, Recurrent pneumonia, Reticular h...	OMIM:604173
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Sparse body hair	ORPHA:1897
Familial Cold Autoinflammatory Syndrome 3	Dermatographic urticaria, Angioedema, Erythema, Cold urticaria	OMIM:614468
Craniofrontonasal Dysplasia	Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail, Woolly hair	ORPHA:1520
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Sparse hair, Dry skin, Acanthosis nigricans	OMIM:268020
Stuve-Wiedemann Syndrome 1	Tibial bowing, Femoral bowing, Knee flexion contracture, Blotching pigmentation of the skin, Spar...	OMIM:601559
Immunodeficiency 25	Increased circulating IgA level, Increased circulating IgE level, Recurrent pneumonia, Increased ...	OMIM:610163
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Reduced subcutaneous adipose tis...	OMIM:606721
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Hyperhidrosis, Palmoplantar kera...	OMIM:615726
Werner Syndrome	Abnormal hair whorl, Premature graying of hair, Prematurely aged appearance, Lack of skin elastic...	ORPHA:902
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Acquired Partial Lipodystrophy	Lipoatrophy, Decreased circulating complement C3 concentration, Generalized hirsutism, Progeroid ...	ORPHA:79087
Incontinentia Pigmenti	Abnormal hand morphology, Uveitis, Abnormality of skin pigmentation, Abnormal toenail morphology,...	ORPHA:464
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Cutaneous photosensitivity, V...	ORPHA:163525
Myoectodermal Gonadal Dysgenesis Syndrome	Omphalocele, Accessory spleen, Small for gestational age, Highly arched eyebrow, Bifid distal pha...	OMIM:618419
Holocarboxylase Synthetase Deficiency	Perioral eczema, Alopecia, Eczema, Keratoconjunctivitis	ORPHA:79242
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Erythema, Cheilitis, Ski...	ORPHA:37
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Adrenal hyperplasia, Acne, Dorsocervical fat pad, Increased body weight, Bruising susce...	OMIM:615830
Chand Syndrome	Curly hair, Nail dysplasia	OMIM:214350
Vulto-Van Silfhout-De Vries Syndrome	Widow's peak, Horizontal eyebrow, Fine hair	OMIM:615828
Granulomatous Slack Skin	Erythema, Redundant skin, Cutis laxa	ORPHA:33111
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Alopecia, Ulnar deviation of the hand, Limb joint contractur...	OMIM:612079
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilic infiltration of the esophagus, Increased circulating IgE level, Recurrent pn...	OMIM:243700
Alg8-Cdg	Abnormality of subcutaneous fat tissue, Small for gestational age, Cutis laxa, Talipes equinovaru...	ORPHA:79325
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Cog7-Cdg	Small for gestational age, Long fingers, Jaundice, Abnormal finger morphology, Hepatosplenomegaly...	ORPHA:79333
Intellectual Developmental Disorder, Autosomal Recessive 5	Sparse hair, Synophrys, Eczema, Thick eyebrow	OMIM:611091
Autosomal Erythropoietic Protoporphyria	Cutaneous photosensitivity, Erythema, Edema	ORPHA:79278
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Abnormal fingernail morphology, Pruritus, Gastrointestinal inflammation, Atypical scarring of ski...	ORPHA:79410
Argininosuccinic Aciduria	Dry hair, Brittle hair, Cerebral edema, Trichorrhexis nodosa	OMIM:207900
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Petechiae,...	ORPHA:540
Oculocerebrocutaneous Syndrome	Alopecia	OMIM:164180
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Anhidrosis, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Periorbital wrinkles, Sparse hair	OMIM:224900
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Eczema, Lymphadenitis, Splenomegaly, Lymphadenopathy, Inflammation of the large intestine, Nail d...	OMIM:615895
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Thickened skin, Skin ulcer, ...	ORPHA:2526
Dermatitis Herpetiformis	Urticaria, Skin vesicle, Erythema, Edema	ORPHA:1656
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow	OMIM:616819
Bullous Pemphigoid	Urticaria, Erythema, Psoriasiform dermatitis	ORPHA:703
Giant Axonal Neuropathy	Woolly hair, Pili canaliculi	ORPHA:643
Cutis Laxa, Autosomal Recessive, Type Iiib	Inguinal hernia, Prominent superficial veins, Cryptorchidism, Flexion contracture, Elbow flexion ...	OMIM:614438
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenome...	ORPHA:169160
Sydenham Chorea	Erythema	ORPHA:306731
H Syndrome	Hallux valgus, Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Lipodystrophy, Scl...	ORPHA:168569
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Increased ad...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Increased ad...	ORPHA:71526
Flynn-Aird Syndrome	Alopecia, Skin ulcer	ORPHA:2047
Pgm3-Cdg	Increased circulating IgG level, Chronic otitis media, Membranoproliferative glomerulonephritis, ...	ORPHA:443811
Noonan Syndrome 5	Curly hair, Large for gestational age, Sparse eyebrow, Cryptorchidism, Fine hair, Cafe-au-lait sp...	OMIM:611553
Chanarin-Dorfman Syndrome	Alopecia, Congenital nonbullous ichthyosiform erythroderma	OMIM:275630
Hemihyperplasia-Multiple Lipomatosis Syndrome	Lipoatrophy, Macrodactyly, Telangiectasia of the skin, Seborrheic dermatitis, 2-4 toe syndactyly,...	ORPHA:276280
Distal Duplication 6P	Abnormal eyelash morphology, Dry skin, Fine hair, Abnormal hair quantity	ORPHA:1745
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Prematurely aged appearance, Abnormal fingertip morphology, Progeroid facial appearance...	ORPHA:90154
Noonan Syndrome 6	Curly hair, Long eyebrows, Low posterior hairline, Webbed neck, Sparse hair	OMIM:613224
Filippi Syndrome	Sparse hair, Frontal hirsutism, Hypertrichosis	OMIM:272440
Kimura Disease	Abnormal salivary gland morphology, Increased circulating IgE level, Lymphadenopathy, Follicular ...	ORPHA:482
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Skin vesicle, Hyperconvex fingernails, Alopecia, Hypoplastic fingernail	ORPHA:257
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse hair, Sparse eyebrow	OMIM:619989
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Inguinal hernia, Eczema, Large for gestational age, Cryptorchidism...	OMIM:607721
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Failure to thrive, Toe syndactyly, Supernumerary nipple, Cachexia, Cryptorchid...	ORPHA:217346
Familial Cold Urticaria	Urticaria, Erythema, Dehydration	ORPHA:47045
Biotinidase Deficiency	Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis	OMIM:253260
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Trichiasis, Hypohidrosis, Hyperkeratosis, Nail dysplasia, Trichodysplasia, Dry skin	OMIM:601701
Punctate Palmoplantar Keratoderma Type 1	Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, Palmoplantar hyperkeratosis...	ORPHA:79501
Recessive X-Linked Ichthyosis	Ichthyosis, Hyperkeratosis, Dry skin, Hypohidrosis	ORPHA:461
Combined Oxidative Phosphorylation Deficiency 36	Premature skin wrinkling, Failure to thrive	OMIM:617950
Blepharocheilodontic Syndrome 1	Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis	OMIM:119580
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy	Anterior cervical hypertrichosis	OMIM:239840
Immunodeficiency, Common Variable, 10	Trachyonychia, Psoriasiform dermatitis, Alopecia totalis, Decreased response to growth hormone st...	OMIM:615577
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Hypopigmentation of hair, Thickened skin, Albinism	ORPHA:79431
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Barber-Say Syndrome	Brachydactyly, Absent nipple, Sparse eyelashes, Redundant skin, Lipodystrophy, Sparse eyebrow, Cr...	OMIM:209885
Even-Plus Syndrome	Sparse hair, Synophrys, Atopic dermatitis, Highly arched eyebrow	OMIM:616854
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Darier-White Disease	Ridged nail, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratotic fragments	OMIM:124200
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Polyhydramnios, Jaundice, Fine hair, Sparse hair, Woolly hair, Trichorr...	OMIM:222470
Anauxetic Dysplasia 2	Sparse hair, Nail dysplasia, Small nail	OMIM:617396
Donohue Syndrome	Hypermelanotic macule, Adipose tissue loss, Acanthosis nigricans, Hyperkeratosis, Large hands, Ov...	OMIM:246200
2Q32Q33 Microdeletion Syndrome	Sparse hair, Fine hair	ORPHA:251019
Necrobiosis Lipoidica	Erythema, Telangiectasia of the skin, Fragile skin, Skin ulcer	ORPHA:542592
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Abnormality of skin pigmentation, Nail dystrophy, Bone marrow hypocellularity, Sparse h...	OMIM:616353
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia	ORPHA:88630
Ichthyosis Vulgaris	Absent keratohyalin granules, Eczematoid dermatitis, Dry skin, Ichthyosis	OMIM:146700
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hashimoto thyroiditis	ORPHA:3143
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Cog5-Cdg	Camptodactyly of finger, Cryptorchidism, Genu valgum, Finger clinodactyly, Abnormality of the fro...	ORPHA:263487
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Hypohidrosis, Sparse hair	ORPHA:2316
Immunodeficiency 23	Membranoproliferative glomerulonephritis, Eczema, Allergic rhinitis, Increased circulating IgE le...	OMIM:615816
Superficial Epidermolytic Ichthyosis	Erythema, Thin skin, Edema	ORPHA:455
Amyloidosis, Primary Localized Cutaneous, 1	Pruritus, Dry skin, Scaling skin	OMIM:105250
Short Syndrome	Alopecia, Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Weight loss, Excessi...	ORPHA:3163
Bullous Impetigo	Erythema	ORPHA:36237
Lessel-Kubisch Syndrome	Sparse pubic hair, Premature graying of hair	OMIM:618681
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair	OMIM:608615
Harlequin Ichthyosis	Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma	ORPHA:457
Chronic Mucocutaneous Candidiasis	Skin rash, Abnormal fingernail morphology, Pruritus, Erythema, Cheilitis, Hepatitis, Skin ulcer, ...	ORPHA:1334
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Prematurely aged appearance, Progeroid facial appearance, ...	ORPHA:90153
Xeroderma Pigmentosum	Conjunctival telangiectasia, Alopecia, Failure to thrive, Telangiectasia of the skin, Hypermelano...	ORPHA:910
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis	OMIM:610227
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Pruritus, Urticaria, Erythroderma, Profuse pigmented skin lesions	ORPHA:280785
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula...	ORPHA:555905
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Inguinal hernia, Redundant neck skin, Lipodystrophy, Redundant skin, Thick hair, Abnormal subcuta...	ORPHA:357074
Hypertrichosis Lanuginosa Congenita	Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow	ORPHA:2222
Transaldolase Deficiency	Hepatosplenomegaly, Premature skin wrinkling, Telangiectasia	ORPHA:101028
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Acne, Hirsutism	OMIM:612847
Protoporphyria, Erythropoietic, 1	Erythema, Edema	OMIM:177000
Satoyoshi Syndrome	Alopecia, Alopecia universalis	OMIM:600705
Immunodeficiency With Hyper-Igm, Type 1	Failure to thrive, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circul...	OMIM:308230
Prolidase Deficiency	Eczema, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, Diffuse telangiectas...	OMIM:170100
Cutis Laxa, Autosomal Dominant 2	Premature skin wrinkling, Cutis laxa	OMIM:614434
Microphthalmia, Syndromic 8	Cryptorchidism, Premature skin wrinkling, Split foot	OMIM:601349
Mpdu1-Cdg	Scaling skin, Eczema, Decreased response to growth hormone stimulation test, Ichthyosis	ORPHA:79323
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology	ORPHA:3082
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Thin eyebrow	ORPHA:3242
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Camptodactyly of finger, Cryptorchidism, Increased circulating IgE level, Obesity...	ORPHA:3409
Psoriasis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Anterior uveitis, Psoriasiform dermatitis, Skin rash, Psoriasiform lesion, Pru...	ORPHA:85436
Mycosis Fungoides	Erythema, Psoriasiform dermatitis	OMIM:254400
Monosomy 22	Seborrheic dermatitis, Thickened skin, Synophrys, Hyperhidrosis, Sparse hair, Scleroderma	ORPHA:96123
Noonan Syndrome 9	Sparse eyebrow, Curly hair, Webbed neck	OMIM:616559
Familial Peripheral Male-Limited Precocious Puberty	Abnormal hair morphology, Acne	ORPHA:3000
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Fragile nails, Small nail, Recurrent otitis media, Pili torti, Trichorrhexis nodosa, Sp...	OMIM:261990
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Sparse pubic hair, Sparse axillary hair	OMIM:146110
De Sanctis-Cacchione Syndrome	Parakeratosis, Hypermelanotic macule, Keratitis, Bilateral cryptorchidism, Telangiectasia, Conjun...	OMIM:278800
Wiedemann-Rautenstrauch Syndrome	Flexion contracture, Hypoplasia of the thymus, Genu varum, Long toe, Absent eyebrow, Alopecia, Pr...	OMIM:264090
Keutel Syndrome	Recurrent otitis media, Alopecia, Recurrent sinusitis	ORPHA:85202
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Fine hair	ORPHA:3236
Lymphatic Malformation 4	Hyperkeratosis, Toenail dysplasia	OMIM:615907
Shukla-Vernon Syndrome	Sparse hair	OMIM:301029
Primary Erythromelalgia	Erythema	ORPHA:90026
Ablepharon-Macrostomia Syndrome	Ventral hernia, Absent eyebrow, Short metacarpal, Toe syndactyly, Omphalocele, Redundant skin, Ab...	OMIM:200110
Intellectual Developmental Disorder, Autosomal Dominant 34	Curly hair, Synophrys, Coarse hair	OMIM:616351
Fontaine Progeroid Syndrome	Redundant skin, Synophrys, Low anterior hairline, Coarse hair, Neonatal death, Recurrent aspirati...	OMIM:612289
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	ORPHA:50814
Poems Syndrome	Lipodystrophy, Metaphyseal sclerosis, Thickened skin, Abnormality of skin physiology, Leukonychia...	ORPHA:2905
Restrictive Dermopathy	Short nail, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat gl...	ORPHA:1662
Bresek Syndrome	Alopecia, Ichthyosis	ORPHA:85284
Mucopolysaccharidosis, Type Iiib	Synophrys, Coarse hair, Hirsutism	OMIM:252920
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren...	ORPHA:36234
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, Eczema, Oligoarthritis, Decreased circulating total IgM, Decreased ...	OMIM:619510
Rosaï-Dorfman Disease	Erythema	ORPHA:158014
Onychotrichodysplasia And Neutropenia	Curly hair, Chronic irritative conjunctivitis, Curly eyelashes, Concave nail, Sparse pubic hair, ...	OMIM:258360
Ichthyosis, Congenital, Autosomal Recessive 8	Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Desbuquois Syndrome	Sparse hair, Abnormal eyelash morphology	ORPHA:1425
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal fingernail morphology, Chronic mucocutaneous candidiasis	ORPHA:3453
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Fine hair, Sparse ha...	ORPHA:2710
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Dry skin, Broad eyebrow	OMIM:619244
Immunodeficiency 104	Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy, Otitis media...	OMIM:608971
Mixed Connective Tissue Disease	Myositis, Pericarditis, Skin rash, Gastritis, Alopecia, Myocarditis, Mediastinal lymphadenopathy,...	ORPHA:809
Restrictive Dermopathy 1	Prominent superficial blood vessels, Sparse eyelashes, Short nail, Rocker bottom foot, Limb joint...	OMIM:275210
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, 2-3 toe syndactyly, E...	OMIM:106260
Bone Marrow Failure Syndrome 3	Metaphyseal dysplasia, Eczema, Hyperechogenic pancreas, Pancreatic steatosis, Cryptorchidism, Hyp...	OMIM:617052
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N...	ORPHA:251393
Tetrasomy 12P	Sparse hair, Sparse eyebrow, Hypohidrosis	ORPHA:884
Ameloonychohypohidrotic Syndrome	Hypohidrosis, Dry skin, Onycholysis, Seborrheic dermatitis	OMIM:104570
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brittle hair	OMIM:619184
Cranioectodermal Dysplasia	Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology	ORPHA:1515
Macs Syndrome	Alopecia, Redundant skin, Sparse eyebrow, Cryptorchidism, Bronchiectasis, Cutis laxa, Ichthyosis,...	OMIM:613075
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Failure to thrive, Lipoatrophy, Prematurely aged appearance, Prominent superficial...	OMIM:601812
Fountain Syndrome	Cutis marmorata, Facial edema, Synophrys, Erythema, Thick eyebrow	ORPHA:3219
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn...	OMIM:102700
Fg Syndrome Type 1	Finger syndactyly, Broad toe, Inguinal hernia, Progressive flexion contractures, Facial wrinkling...	ORPHA:93932
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Hyperpigmentation in sun-exposed areas, Decreased number of sweat gland...	ORPHA:69087
Adult Syndrome	Sparse scalp hair, Toe syndactyly, Absent nipple, Eczema, Sparse axillary hair, Fair hair, Split ...	OMIM:103285
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 6 concentration, Adipose tissue loss, Flexion contracture, Incr...	OMIM:256040
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Acantholysis, Weight loss, Atypical scarring of skin, Urti...	ORPHA:704
Ehlers-Danlos Syndrome, Classic-Like, 2	Hallux valgus, Ventral hernia, Inguinal hernia, Prominent superficial veins, Prematurely aged app...	OMIM:618000
Acrokeratoelastoidosis Of Costa	Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratoti...	ORPHA:38
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Small nail	OMIM:614219
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Pustule, Myocarditis, Angioedema, Erythema, Hepatitis, Thyroiditis, Weight loss, Lymph...	ORPHA:139402
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Thyroiditis	OMIM:618985
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Sparse hair, Hypoplastic nipples, Small nail	OMIM:273400
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Seborrheic dermatitis	OMIM:210210
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Alopecia, Asplenia, Iridocyclit...	OMIM:240300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Woolly hair	OMIM:607450
De Barsy Syndrome	Inguinal hernia, Lipodystrophy, Progeroid facial appearance, Cryptorchidism, Adducted thumb, Coxa...	ORPHA:2962
Mucopolysaccharidosis, Type Iiia	Synophrys, Coarse hair, Hirsutism	OMIM:252900
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Fine hair	ORPHA:228390
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hypohidrosis, Hyperconv...	ORPHA:1071
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Monosomy 18P	Webbed neck, Alopecia, Low posterior hairline	ORPHA:1598
Warty Dyskeratoma	Abnormal fingernail morphology, Acrokeratosis, Epidermal thickening, Acantholysis	ORPHA:69745
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis,...	OMIM:145250
Cole Disease	Epidermal acanthosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:615522
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Brachydactyly, Increased circulating IgE level, Short distal phalanx of finger	ORPHA:1858
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Recurrent pneumonia, Erythem...	ORPHA:420741
Ablepharon Macrostomia Syndrome	Omphalocele, Absent eyebrow, Toe syndactyly, Redundant skin, Abnormal hair pattern, Camptodactyly...	ORPHA:920
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Nail dysplasia, ...	ORPHA:163654
Opitz-Kaveggia Syndrome	Syndactyly, Inguinal hernia, Multiple joint contractures, Broad hallux, Facial wrinkling, Cryptor...	OMIM:305450
Giant Axonal Neuropathy 1, Autosomal Recessive	Curly hair	OMIM:256850
Immunodeficiency 7	Splenomegaly, Lymphadenopathy, Patchy alopecia, Chronic oral candidiasis, Recurrent otitis media,...	OMIM:615387
Rothmund-Thomson Syndrome	Sparse hair, Hypopigmentation of the skin, Abnormality of the nail, Hypoplasia of the ulna, Abnor...	ORPHA:2909
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Synophrys, Sparse hair, Acanthosis nigrica...	ORPHA:3455
Mucopolysaccharidosis, Type Iiic	Synophrys, Coarse hair, Hirsutism, Hypertrichosis	OMIM:252930
Cardiocranial Syndrome, Pfeiffer Type	Sparse hair, Abnormal hair whorl	ORPHA:2872
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Generalized abnormality of skin, Atopic dermatitis, Weight loss	ORPHA:2902
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	ORPHA:280365
Kury-Isidor Syndrome	Recurrent otitis media, Alopecia, Hypertrichosis	OMIM:619762
Hall-Riggs Syndrome	Coarse hair, Slow-growing hair, Thick hair	ORPHA:2107
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Dry skin, Trichorrhexis nodosa	ORPHA:84064
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Dense metaphyseal bands, Small for gestational age, Progeroid facial appearance, Generalized lipo...	ORPHA:50811
Agammaglobulinemia 8B, Autosomal Recessive	Failure to thrive, Splenomegaly, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating t...	OMIM:619824
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sparse hair, Curly hair, Synophrys, Sparse eyebrow	OMIM:620075
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Ichthyosis, Congenital, Autosomal Recessive 3	Anhidrosis, Erythema, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullo...	OMIM:606545
Snakebite Envenomation	Ecchymosis, Angioedema, Erythema, Edema	ORPHA:449285
Tonne-Kalscheuer Syndrome	Concave nail, Small nail, Fine hair	OMIM:300978
Acrofacial Dysostosis, Palagonia Type	Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey...	ORPHA:1787
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ...	ORPHA:1896
Cutis Laxa, Autosomal Recessive, Type Iiia	Inguinal hernia, Prominent superficial blood vessels, Cryptorchidism, Cutis laxa, Talipes equinov...	OMIM:219150
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Epidermal acanthosis, Increased circulating IgA level, Splenomegaly, Thyroidit...	OMIM:617388
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, S...	OMIM:619503
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Perianal erythema, Paronychia, Alopecia of scalp, Perioral erythema, Dry skin	OMIM:201100
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Noonan Syndrome 14	Curly hair, Sparse eyebrow, Low posterior hairline, Hyperhidrosis, Webbed neck, Sparse hair, Dry ...	OMIM:619745
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Decreased circulating IgG level, Chronic nonin...	ORPHA:3261
Dyskeratosis Congenita	White hair, Premature graying of hair, Periodontitis, Sparse hair, Skin vesicle, Alopecia, Abnorm...	ORPHA:1775
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Nail dystrop...	OMIM:610644
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Absent eyebrow, Curly hair, Slow-growing hair, Absent ey...	OMIM:115150
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Sparse hair, Brittle hair, Fine hair	OMIM:618891
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Sparse hair, Fine hair	OMIM:616817
Noonan Syndrome 7	Hyperhidrosis, Curly hair, Webbed neck, Low posterior hairline	OMIM:613706
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Supernumerary nipple	ORPHA:3224
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Cholelithiasis, Thickened skin, Jaundice, Loss of eyelashes, Splenomega...	OMIM:263700
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Supernumerary nipple, Fine hair, Hypohidrosis, Aplastic/hypoplastic toenail, Thin skin, Dry skin,...	ORPHA:1812
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis, Erythroderma	OMIM:133190
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Synophrys, Glomerulonephritis, Fine hair	OMIM:619428
Braddock-Carey Syndrome 1	Sparse hair, Curly hair	OMIM:619980
Dyskeratosis Congenita, Digenic	Alopecia, Failure to thrive, Sparse eyelashes, Abnormality of skin pigmentation, Decreased circul...	OMIM:620040
Geroderma Osteodysplasticum	Hyperextensibility of the finger joints, Progeroid facial appearance, Neonatal wrinkled skin of h...	OMIM:231070
Lig4 Syndrome	Telangiectasia of the skin, Erythema, Cutaneous photosensitivity, Low anterior hairline	ORPHA:99812
Angioedema, Hereditary, 1	Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema, Erythema	OMIM:106100
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Psoriasiform dermatitis, Alopecia totalis, Decreased response to growth hormone stimula...	ORPHA:293978
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Sparse hair, Hirsutism	OMIM:618087
Leprosy	Absent eyebrow, Alopecia, Loss of eyelashes, Penetrating foot ulcers, Uveitis, Hypohidrosis, Hype...	ORPHA:548
Trichotillomania	Alopecia	OMIM:613229
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Brittle hair	OMIM:616084
Macrocephaly/Autism Syndrome	Large for gestational age, Splenomegaly, Obesity, Cutis laxa, Decreased circulating antibody leve...	OMIM:605309
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Dorsocervical fat pad, Small for gestational age, Deviation of the 5th toe, Synophrys, Low anteri...	ORPHA:391408
Hatipoglu Immunodeficiency Syndrome	Inguinal hernia, Fair hair, Failure to thrive, Eczema, Poor wound healing, Hyperpigmented/hypopig...	OMIM:620331
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Fine hair, Premature graying of hair, Nail dysplasia, Dry skin	OMIM:613990
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Atrophic scars, Bruising susceptibility, Follicular hyperkeratosis, Hernia	ORPHA:300179
Igg4-Related Aortitis	Increased inflammatory response, Increased circulating IgG4 level, Increased circulating IgE leve...	ORPHA:449400
Chromosome Xq27.3-Q28 Duplication Syndrome	Sparse body hair	OMIM:300869
Cerebrooculofacioskeletal Syndrome 2	Sparse hair	OMIM:610756
Familial Melanoma	Neoplasm of the pancreas, Abnormal hair morphology, Abnormality of the lymphatic system, Frecklin...	ORPHA:618
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Thin nail, Concave nail, Osteoarthritis, Leukonychia, Fine hair, Thin eyebrow,...	OMIM:190350
Systemic Sclerosis	Flexion contracture, Acral ulceration, Alopecia, Thickened skin, Digital ulcer, Finger swelling, ...	ORPHA:90291
Autosomal Recessive Cutis Laxa Type 2A	Excessive wrinkled skin, Inguinal hernia, Thick hair, Progeroid facial appearance	ORPHA:357058
Androgen Insensitivity Syndrome	Sparse pubic hair, Absent facial hair, Sparse axillary hair	OMIM:300068
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Hyperconvex nail, Eczema	OMIM:619721
Atypical Werner Syndrome	Abnormal hair whorl, Finger clinodactyly, Premature graying of hair, Fragile nails, Short palm, A...	ORPHA:79474
Cutis Laxa, Autosomal Dominant 3	Dermal translucency, Cutis laxa, Talipes equinovarus, Hernia, Premature skin wrinkling, Adducted ...	OMIM:616603
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Absent eyebrow, Short metacarpal, Alopecia, Inguinal hernia, Absent eyelashes, Met...	ORPHA:166035
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	OMIM:607812
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Alopecia, Reduced subcutaneous a...	OMIM:248370
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair	OMIM:620001
Ane Syndrome	Alopecia, Multiple joint contractures, Ulnar deviation of the hand, Lipoatrophy, Decreased respon...	ORPHA:157954
Intellectual Developmental Disorder, Autosomal Dominant 65	Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline	OMIM:619320
Noonan Syndrome 10	Curly hair, Sparse eyebrow, Cryptorchidism, Hyperkeratosis, Webbed neck, Palmoplantar cutis laxa,...	OMIM:616564
Smith-Kingsmore Syndrome	Curly hair, Rhizomelia, Large for gestational age, Short proximal phalanx of finger, Cryptorchidi...	OMIM:616638
Fetal Hydantoin Syndrome	Coarse hair, Hypoplastic fingernail, Low posterior hairline	ORPHA:1912
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail, Hyperhidrosis	ORPHA:28378
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Cataract-Intellectual Disability-Hypogonadism Syndrome	Prematurely aged appearance, Abnormal distal phalanx morphology of finger, Cryptorchidism, Low po...	ORPHA:1387
Griscelli Syndrome	Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, Jaundice, White hair,...	ORPHA:381
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bowing of the long bones, Retinal telangiectasia, Metaphyseal sclerosis, Fine hair, Premature gra...	OMIM:612199
Roifman Syndrome	Hip contracture, Eczema, Hyperconvex nail, Delayed proximal femoral epiphyseal ossification, Recu...	ORPHA:353298
Juvenile Dermatomyositis	Alopecia, Telangiectasia of the skin, Palpebral edema, Erythema, Skin ulcer, Cutaneous photosensi...	ORPHA:93672
Mitochondrial Complex I Deficiency, Nuclear Type 33	Sparse hair, Bronchiectasis, Aspiration pneumonia	OMIM:618253
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Xp22.13P22.2 Duplication Syndrome	Sparse hair, High anterior hairline	ORPHA:284180
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Abnormality of retinal pigmentation, Dry hair, Cachexia, Cry...	ORPHA:191
Ruijs-Aalfs Syndrome	Lipodystrophy, Elbow flexion contracture, Premature graying of hair, Decreased body weight, Spars...	OMIM:616200
Immunodeficiency 64 With Lymphoproliferation	Failure to thrive, Increased circulating IgA level, Mediastinal lymphadenopathy, Cervical lymphad...	OMIM:618534
Pediatric Systemic Lupus Erythematosus	Myositis, Alopecia, Skin rash, Discoid lupus rash, Arthritis, Malar rash, Nephritis	ORPHA:93552
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Failure to thrive, Sparse eyelashes, Lipoatrophy, Progeroid facial a...	OMIM:614008
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Prominent superficial blood vessels, Cyanosis, Alopecia totalis, Hypermelanotic m...	ORPHA:740
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Plethora, Alopecia, Striae distensae, Acne, Dorsocervical fat pad, Pituitary adenoma, Primary hyp...	ORPHA:189427
Gomez-Lopez-Hernandez Syndrome	Alopecia	OMIM:601853
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Increased circulating IgE level, Bronchiectasis, ...	ORPHA:1163
Holocarboxylase Synthetase Deficiency	Alopecia, Skin rash	OMIM:253270
Reactive Arthritis	Pericarditis, Osteomyelitis, Pustule, Enthesitis, Arthritis, Inflammation of the large intestine,...	ORPHA:29207
Satoyoshi Syndrome	Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis	ORPHA:3130
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Hyperhidrosis, Arth...	OMIM:259100
Polyarteritis Nodosa	Erythema, Cutis marmorata, Skin ulcer	ORPHA:767
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis, Osteomyelitis	OMIM:615632
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cachexia, Clubbing, Clubbing of fingers, Nail dystrophy, Nail dysplasia, Hyperpigmentat...	OMIM:175500
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Alopecia, Multiple joint contractures, Small for gestational age, Lack ...	ORPHA:2959
Fanconi Anemia, Complementation Group S	Sparse hair, Long eyelashes, Low anterior hairline	OMIM:617883
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Scarf Syndrome	Low posterior hairline, Cutis laxa, Hypoplastic nipples, Webbed neck, Sparse hair	ORPHA:3134
Hemochromatosis, Type 1	Alopecia, Splenomegaly, Telangiectasia, Testicular atrophy, Hyperpigmentation of the skin	OMIM:235200
Mucopolysaccharidosis-Plus Syndrome	Thickened skin, Synophrys, Recurrent pneumonia, Low anterior hairline, Metaphyseal widening, Club...	OMIM:617303
Insulin-Resistance Syndrome Type B	Alopecia, Enlarged ovaries, Skin rash, Pneumonia, Decreased circulating complement factor B conce...	ORPHA:2298
Congenital Disorder Of Glycosylation, Type Iil	Failure to thrive, Impaired T cell function, Postaxial polydactyly, Splenomegaly, Decreased speci...	OMIM:614576
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Flexion contracture, Corneal scarring, Atrophic scars, Conjunctivitis, Nail dystrophy, ...	OMIM:226600
Adiposis Dolorosa	Recurrent skin infections, Sparse axillary hair, Sparse pubic hair, Arthritis, Dry skin	ORPHA:36397
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Sparse body hair	ORPHA:2234
Spinocerebellar Ataxia-Dysmorphism Syndrome	Coarse hair	ORPHA:1185
Multiple Sulfatase Deficiency	Coarse hair, Thick eyebrow, Ichthyosis	ORPHA:585
Griscelli Syndrome Type 2	Hypopigmentation of hair, Partial albinism, Splenomegaly, Jaundice, Lymphadenopathy, Premature gr...	ORPHA:79477
Insulin Autoimmune Syndrome	Acanthosis nigricans, Arthralgia/arthritis, Increased circulating antibody level, Weight loss	ORPHA:411593
Limb-Mammary Syndrome	Syndactyly, Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Toe syndactyly,...	ORPHA:69085
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Abnormal dental enamel morphology, Thickened skin, Oc...	ORPHA:79430
Rothmund-Thomson Syndrome Type 1	Patellar hypoplasia, Facial erythema, Sparse hair, Short phalanx of finger, Hypopigmentation of t...	ORPHA:221008
Koolen-De Vries Syndrome	Ichthyosis, Hypopigmentation of hair, Dry skin, Abnormality of hair texture	ORPHA:96169
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Woolly hair	OMIM:610193
C1Q Deficiency 2	Vasculitis in the skin, Facial erythema	OMIM:620321
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Erythema, Xerostomia, Skin ulcer, Urticaria, Nail dystrophy, Thin ski...	ORPHA:2907
Histiocytosis, Familial Lipochrome	Increased circulating antibody level	OMIM:235900
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Patchy alopecia	ORPHA:85279
Generalized Pustular Psoriasis	Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma, Abnormality of the...	ORPHA:247353
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Patchy alopecia	OMIM:617763
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Sparse lateral eyebrow	OMIM:190351
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Iridocyclitis, Alopecia, Pancreatitis	ORPHA:412057
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Sparse scalp hair, Sparse eyebrow, Urticaria, Abnormality of skin pigmentation, Hypohidrotic ecto...	OMIM:225050
Milroy Disease	Toenail dysplasia, Hyperkeratosis, Erysipelas	ORPHA:79452
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion	OMIM:616298
Tempi Syndrome	Transudative pleural effusion, Telangiectasia, Ascites, Facial erythema	ORPHA:284227
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Coarse hair, Sparse hair, Dry skin	ORPHA:2750
Adrenoleukodystrophy	Alopecia	OMIM:300100
Woodhouse-Sakati Syndrome	Alopecia, Scaling skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:3464
Cranioectodermal Dysplasia 3	Short nail, Broad nail, Fine hair, Cutis laxa, Sparse hair, Dry skin	OMIM:614099
Bartsocas-Papas Syndrome	Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye...	ORPHA:1234
Acrofacial Dysostosis, Catania Type	Coarse hair, Abnormal hair pattern, Webbed neck	ORPHA:1786
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Proteasome-Associated Autoinflammatory Syndrome 2	Skin rash, Neutrophilic infiltration of the skin, Lipodystrophy, Increased circulating IgA level,...	OMIM:618048
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Acquired Generalized Lipodystrophy	Acute pancreatitis, Generalized hyperpigmentation, Progeroid facial appearance, Abnormality of co...	ORPHA:79086
Ogden Syndrome	Fine hair, Aplasia/Hypoplasia of the eyebrow, Cutis laxa	ORPHA:276432
Alstrom Syndrome	Alopecia, Chronic active hepatitis, Recurrent pneumonia, Tubulointerstitial nephritis, Otitis med...	OMIM:203800
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Ichthyosis	OMIM:163200
Indolent Systemic Mastocytosis	Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Darier's sign, Urticaria, Lymphadenop...	ORPHA:98848
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis	OMIM:148600
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse hair	OMIM:613451
Ramon Syndrome	Hyperkeratosis, Juvenile rheumatoid arthritis, Hypertrichosis	OMIM:266270
Joubert Syndrome 37	Sparse hair	OMIM:619185
Polyendocrine-Polyneuropathy Syndrome	Alopecia	ORPHA:453533
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Large for gestational age, Cryptorchidism, Hypopigmented skin patches, Cafe-au-lait s...	ORPHA:457485
Marshall-Smith Syndrome	Brittle hair, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow, Hypertrichosis	OMIM:602535
Kikuchi-Fujimoto Disease	Alopecia, Generalized lymphadenopathy, Skin rash, Pruritus, Myocarditis, Pustule, Erythema, Cervi...	ORPHA:50918
Xeroderma Pigmentosum, Complementation Group F	Erythema, Cutaneous photosensitivity	OMIM:278760
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Eczema, Dry skin, Abnormality of the nail	ORPHA:428
Sunct Syndrome	Flushing, Palpebral edema, Facial edema, Facial erythema	ORPHA:57145
Lead Poisoning	Small for gestational age, Skin rash, Increased circulating IgE level, Abnormality of humoral imm...	ORPHA:330015
Rothmund-Thomson Syndrome Type 2	Patellar hypoplasia, Facial erythema, Sparse hair, Short phalanx of finger, Hypopigmentation of t...	ORPHA:221016
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Lymphadenopathy, Increased circulating IgM level, Cellulitis, Decre...	OMIM:615513
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Tularemia	Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology, Mediastinal l...	ORPHA:3392
Noonan Syndrome 2	Curly hair, Sparse eyebrow, Cryptorchidism, Low posterior hairline, Hyperkeratosis, Palmoplantar ...	OMIM:605275
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Overweight, Cryptorchidism, Follicular hyperkeratosis, Dry skin	ORPHA:486815
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey...	ORPHA:2273
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair	OMIM:614105
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Erythema, Arthritis, Patchy alopecia, Iritis	OMIM:109650
Ectodermal Dysplasia And Immunodeficiency 2	Sparse scalp hair, Anhidrosis, Hypohidrosis, Aplasia of the sweat glands, Sparse hair, Dry skin	OMIM:612132
Igg4-Related Kidney Disease	Lymphadenitis, Increased circulating IgG level, Tubulointerstitial nephritis, Cholecystitis, Decr...	ORPHA:449395
Agel Amyloidosis	Pruritus, Cutis laxa, Keratoconjunctivitis sicca, Abnormal spleen morphology, Nail dystrophy, Spa...	ORPHA:85448
Mucolipidosis Ii Alpha/Beta	Sparse eyebrow, Brittle hair, Palpebral edema, Sparse hair	OMIM:252500
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails	ORPHA:77258
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Fine hair, Thick eyebrow, Cutis laxa	OMIM:614800
Chime Syndrome	Erythema, Skin ulcer, Fine hair, Hyperkeratosis, Ichthyosis, Sparse hair	ORPHA:3474
Gorlin-Chaudhry-Moss Syndrome	Coarse hair, Low anterior hairline, Generalized hirsutism	ORPHA:2095
Chromosome 19Q13.11 Deletion Syndrome, Distal	Reduced subcutaneous adipose tissue, Inguinal hernia, Failure to thrive, Sparse eyelashes, Overla...	OMIM:613026
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Nail pits, Reticular hyperpigmentation, Premature graying of hair, Interst...	OMIM:127550
Congenital Disorder Of Glycosylation, Type Iie	Splenomegaly, Jaundice, Low anterior hairline, Hypertrichosis, Excessive wrinkled skin, Overlappi...	OMIM:608779
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Generalized ichthyosis, Esophagitis, Abnormality of hair texture	ORPHA:79351
Intellectual Disability, Buenos-Aires Type	Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair	ORPHA:3079
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Ectodermal dyspla...	OMIM:129900
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Lymphadenopathy, Arthritis,...	ORPHA:69126
Revesz Syndrome	Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail	OMIM:268130
Focal Dermal Hypoplasia	Omphalocele, Finger syndactyly, Alopecia, Toe syndactyly, Inguinal hernia, Camptodactyly of finge...	ORPHA:2092
Orofaciodigital Syndrome Type 3	Abnormality of hair texture	ORPHA:2752
Celiac Disease, Susceptibility To, 1	Alopecia, Eczema, Thyroiditis, Weight loss, Recurrent aphthous stomatitis, Stomatitis, Enamel hyp...	OMIM:212750
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Finger syndactyly, Cryptorchidis...	ORPHA:373
Borjeson-Forssman-Lehmann Syndrome	Sparse hair, Thick eyebrow	ORPHA:127
Hereditary Sensory And Autonomic Neuropathy Type 1	Osteomyelitis, Poor wound healing, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis	ORPHA:36386
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Colitis, Pallor, Angioedema, Clubbing, Chronic hepatiti...	ORPHA:3260
Hyperimmunoglobulinemia D With Periodic Fever	Urticaria, Erythema, Acrocyanosis, Purpura	ORPHA:343
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Synophrys, Long eyelashes, Fine hair	OMIM:620250
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Absent eyebrow, Psoriasiform dermatitis, Thickened skin, Hepatitis, Hypoplasia of th...	ORPHA:436252
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Short metacarpal, Preaxial hand polydactyly, Enlarged metaphyses, Increased circulating IgE level...	ORPHA:508533
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma, Failure to thrive	OMIM:227090
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Tapered toe, Inguinal hernia, Tape...	ORPHA:544488
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Acne, Frontal balding, Synophrys, Facial hirsutism, High anterior hairline, Hirsutism	ORPHA:247768
Scarf Syndrome	Low anterior hairline, Low posterior hairline, Cutis laxa, Hypoplastic nipples, Webbed neck, Spar...	OMIM:312830
Localized Scleroderma	Fasciitis, Abnormal skin adnexa morphology, Thickened skin, Erythema, Flexion contracture, Hypopi...	ORPHA:90289
Noonan Syndrome 4	Sparse eyebrow, Curly hair, High anterior hairline, Webbed neck	OMIM:610733
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteomyelitis, Skin rash, Epidermal acanthosis, Failure to thrive in infancy, Pustule, Splenomega...	OMIM:612852
Adams-Oliver Syndrome	Finger syndactyly, Alopecia, Brachydactyly, Hypoplastic fingernail, Cutis marmorata, Absent toe, ...	ORPHA:974
Weaver Syndrome	Short fourth metatarsal, Calcaneovalgus deformity, Sparse hair, Prominent fingertip pads, Deep-se...	OMIM:277590
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of hair texture	ORPHA:88618
Aredyld Syndrome	Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Sparse body hair, Aplasia...	ORPHA:1133
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Fine hair	ORPHA:363686
Dermatosparaxis Ehlers-Danlos Syndrome	Inguinal hernia, Abnormality of subcutaneous fat tissue, Femoral hernia, Scarring, Coxa valga, Av...	ORPHA:1901
Fixed Drug Eruption	Erythema, Generalized abnormality of skin	ORPHA:293812
Chromosome 5P13 Duplication Syndrome	Sparse hair, Low posterior hairline	OMIM:613174
Kcnq2-Related Epileptic Encephalopathy	Pallor, Cerebral edema, Facial erythema	ORPHA:439218
Giant Cell Arteritis	Alopecia, Pericarditis, Skin ulcer, Hyperhidrosis, Arthritis	ORPHA:397
Bloom Syndrome	Adipose tissue loss, Paronychia, Uveitis, Otitis media, Decreased circulating IgG level, Hypopigm...	ORPHA:125
Immunoglobulin A Vasculitis	Edema, Angioedema, Erythema, Skin ulcer, Urticaria, Bruising susceptibility, Vascular skin abnorm...	ORPHA:761
Oculocerebrocutaneous Syndrome	Finger syndactyly, Alopecia, Abnormal fingernail morphology, Congenital diaphragmatic hernia, Apl...	ORPHA:1647
Relapsing Polychondritis	Episcleritis, Pericarditis, Alopecia, Chondritis of pinna, Keratitis, Myocarditis, Erythema, Hepa...	ORPHA:728
Syndromic Recessive X-Linked Ichthyosis	Ichthyosis, Hyperkeratosis, Hypohidrosis	ORPHA:281090
Dermatomyositis	Abnormal hair quantity, Telangiectasia of the skin, Edema, Periorbital edema, Erythema, Skin ulce...	ORPHA:221
Ogden Syndrome	Redundant neck skin, Redundant skin, Clinodactyly of the 5th finger, Broad hallux, Prematurely ag...	OMIM:300855
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, Colitis, Decre...	OMIM:618394
Mogs-Cdg	Alopecia, Fair hair, Decreased circulating antibody level, Hydrocele testis, Decreased circulatin...	ORPHA:79330
Keppen-Lubinsky Syndrome	Decreased testicular size, Failure to thrive, Lipodystrophy, Progeroid facial appearance, Recurre...	ORPHA:435628
Hawkinsinuria	Sparse hair	OMIM:140350
Galloway-Mowat Syndrome 9	Coarse hair	OMIM:619603
Schnitzler Syndrome	Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Urticaria, Increased circulating IgM level, A...	ORPHA:37748
Familial Benign Chronic Pemphigus	Skin vesicle, Hyperkeratosis, Erythema, Acantholysis	ORPHA:2841
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Slow-growing hair, Highly arched eyebrow, Cryptorchidism, Low posterior hairline, Coa...	OMIM:617506
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Lipodystrophy, Splenomegaly, Flexion contracture, Lymphadenopathy...	OMIM:617591
Arthrogryposis Multiplex Congenita 5	Inguinal hernia, Rocker bottom foot, Flexion contracture, Elbow flexion contracture, Hammertoe, T...	OMIM:618947
Epidermodysplasia Verruciformis	Telangiectasia of the skin, Recurrent skin infections, Seborrheic dermatitis, Pustule, Hypopigmen...	ORPHA:302
Wrinkly Skin Syndrome	Inguinal hernia, Redundant skin, Short nail, Progeroid facial appearance, Cryptorchidism, Neonata...	OMIM:278250
Glutamine Deficiency, Congenital	Erythema	OMIM:610015
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Joint contracture, Dry skin, Follicular hyperkeratosis	OMIM:617066
Koolen-De Vries Syndrome	Failure to thrive, Small for gestational age, Eczema, Abnormality of hair texture, Cryptorchidism...	OMIM:610443
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Small for gestational age, Absent ...	OMIM:268400
Classical-Like Ehlers-Danlos Syndrome Type 2	Hallux valgus, Ventral hernia, Alopecia, Widened atrophic scar, Arachnodactyly, Redundant skin, S...	ORPHA:536532
Gapo Syndrome	Alopecia, Sparse eyelashes, Prematurely aged appearance, Sparse eyebrow, Early balding, Hypopigme...	ORPHA:2067
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis, High anterior hairline, Hypohidrosis	OMIM:615510
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Sparse hair, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Fine hair	OMIM:614091
Neutropenia, Chronic Familial	Clubbing of fingers, Clubbing, Increased circulating antibody level, Periodontitis	OMIM:162700
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic sweat glands, Epidermal thick...	ORPHA:73223
Cartilage-Hair Hypoplasia	Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair	OMIM:250250
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce...	ORPHA:90186
Cerebrofaciothoracic Dysplasia	Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow	ORPHA:1394
Aicardi-Goutieres Syndrome 1	Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia	ORPHA:93160
Down Syndrome	Sandal gap, Prematurely aged appearance, Abnormality of the lymphatic system, Obesity, Sparse hai...	ORPHA:870
Kindler Epidermolysis Bullosa	Finger syndactyly, Recurrent skin infections, Camptodactyly of finger, Abnormal dental enamel mor...	ORPHA:2908
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ...	OMIM:608106
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Uveitis, Sparse hair, Sp...	ORPHA:2108
Immunodeficiency 27A	Increased inflammatory response, Hypoplasia of the femoral head, Pneumonia, Splenomegaly, Weight ...	OMIM:209950
Johanson-Blizzard Syndrome	Alopecia, Abnormal hair pattern	ORPHA:2315
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Alopecia, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Decrea...	ORPHA:227990
Roifman Syndrome	Hip contracture, Short metacarpal, Eczema, Splenomegaly, Short toe, Recurrent pneumonia, Prominen...	OMIM:616651
Werner Syndrome	Prematurely aged appearance, Progeroid facial appearance, Subcutaneous calcification, Scleroderma...	OMIM:277700
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:605258
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic hepatitis	OMIM:269200
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Curly hair, Redundant neck skin, Highly arched eyebrow, Low posterior hairline, Thick eyebrow	OMIM:617360
Activated Pi3K-Delta Syndrome	Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulating antibody le...	ORPHA:397596
Interstitial Granulomatous Dermatitis With Arthritis	Erythema	ORPHA:79099
Cutis Laxa, Autosomal Recessive, Type Iib	Bowing of the long bones, Inguinal hernia, Prominent superficial veins, Redundant skin, Lack of s...	OMIM:612940
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Dry hair, Failure to thrive, Small for gestational age, Prem...	OMIM:133540
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Alopecia, Autoimmune hypoparathyroidism, Iridocyclitis, Hepatitis, Chronic mu...	ORPHA:227982
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Carpal synostosis, Bowing of the long bones, Flared metaphysis, Advanced ossification of carpal b...	OMIM:615349
Biotinidase Deficiency	Skin rash, Alopecia, Eczematoid dermatitis, Conjunctivitis	ORPHA:79241
Immunodeficiency, Common Variable, 2	Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectas...	OMIM:240500
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Erythema, Fine hair, Onycholysis, Nail dystr...	OMIM:614748
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Failure to thrive, Skin rash, Pneumonia, Abnormal immunoglob...	ORPHA:276
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Recurrent pneumonia, Lymphadenopathy, Hepatosplenomegaly, Decreased circulating antibody level, H...	OMIM:619750
Epidermodysplasia Verruciformis, Susceptibility To, 4	Facial erythema	OMIM:618307
Schimke Immunoosseous Dysplasia	Small for gestational age, Hypermelanotic macule, Abnormal immunoglobulin level, Bilateral crypto...	OMIM:242900
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hyperhidrosis, Thickened skin, Acne, Seborrheic dermatitis	OMIM:614441
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Ectodermal dyspla...	OMIM:604292
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Curly hair	OMIM:300986
Encephalocraniocutaneous Lipomatosis	Alopecia, Linear hyperpigmentation, Cryptorchidism, Lipoma, Multiple central nervous system lipom...	OMIM:613001
Chops Syndrome	Curly hair, Thick hair, Synophrys, Coarse hair, Long eyelashes, Aspiration pneumonia, Thick eyebrow	OMIM:616368
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Thickened skin, Pyelonephritis, Fine hair, Hypohidrosis,...	OMIM:181270
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Redundant skin, Micromelia, Split hand, Femoral bowing, Ex...	ORPHA:1860
Nodular Non-Suppurative Panniculitis	Erythema, Edema	ORPHA:33577
Irida Syndrome	Hyperkeratosis, Pallor, Ichthyosis	ORPHA:209981
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Curly hair	ORPHA:85184
Igg4-Related Submandibular Gland Disease	Cholangitis, Increased circulating IgG4 level, Increased circulating IgE level, Enlarged lacrimal...	ORPHA:449432
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Congenital nonbullous ichthyosiform erythroderma	ORPHA:98907
Gapo Syndrome	Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, ...	OMIM:230740
Marshall Syndrome	Sparse eyelashes, Sparse eyebrow, Osteoarthritis, Hypohidrosis, Sparse hair	ORPHA:560
Proteasome-Associated Autoinflammatory Syndrome 4	Erythema, Edema	OMIM:619183
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Dry hair, Failure to thrive, Prematurely ag...	OMIM:216400
Menkes Disease	Hypopigmentation of hair, Osteomyelitis, Bowing of the long bones, Tarsal synostosis, Inguinal he...	ORPHA:565
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Lymphocytic interstitial pneumonia, Splenomegaly, Lymphadenopathy, Increased circulating IgG leve...	OMIM:618495
Trichohepatoneurodevelopmental Syndrome	Curly hair, Decreased body weight, Overlapping toe, Cholelithiasis, Pruritus, Woolly hair, Synoph...	OMIM:618268
Large Congenital Melanocytic Nevus	Congenital giant melanocytic nevus, Pruritus, Hypopigmented skin patches, Abnormality of skin pig...	ORPHA:626
Pemphigus Erythematosus	Malar rash, Hypopigmented skin patches, Acantholysis	ORPHA:79480
Pseudoxanthoma Elasticum	Acne, Skin rash, Telangiectasia of the skin, Pruritus, Lack of skin elasticity, Excessive wrinkle...	ORPHA:758
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Hypopigmented skin patches, Coxa vara, Fine hair, Multiple cafe-au-lait spots, Trunca...	ORPHA:2637
Fucosidosis	Failure to thrive, Generalized hyperkeratosis, Lipoatrophy, Acrocyanosis, Vascular skin abnormali...	ORPHA:349
Ritscher-Schinzel Syndrome 4	Curly hair	OMIM:619435
Bloom Syndrome	Syndactyly, Hypopigmentation of the skin, Small for gestational age, Cryptorchidism, Bronchiectas...	OMIM:210900
Systemic Lupus Erythematosus	Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Lymphadenopathy, Arthritis, Cutaneous p...	ORPHA:536
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Bronchiectasis, Lymphadenopathy, Increased circulating IgG level, Incre...	OMIM:619220
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Palmoplantar hyperkeratosis, Sparse hair, Clinodactyly of the 5th fing...	OMIM:280000
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Acne, Hirsutism	ORPHA:90795
Sialidosis Type 1	Splenomegaly, Hyperkeratosis, Vascular skin abnormality, Hernia	ORPHA:812
Wiskott-Aldrich Syndrome	Eczema, Reduced natural killer cell activity, Increased circulating IgA level, Increased circulat...	OMIM:301000
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Supernumerary nipple, Telangiectasia, Patchy alopecia, Nail dystrophy,...	OMIM:305600
Sympathetic Ophthalmia	Macular edema, Alopecia, Erythema, Poliosis	ORPHA:79098
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo...	ORPHA:2232
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Bronchiectasis, Ato...	ORPHA:436159
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Hypoplastic toenails, Low anterior...	ORPHA:235
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline	OMIM:250410
Adult-Onset Still Disease	Joint swelling, Erythema	ORPHA:829
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Increased circulating IgA level, Follicular hyperplasia, S...	OMIM:603909
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Sparse eyelashes, Fine hair	OMIM:257850
Immunodeficiency 22	Pericarditis, Failure to thrive, Decreased circulating total IgM, Panniculitis, Decreased circula...	OMIM:615758
Dyskeratosis Congenita, Autosomal Dominant 2	Reticulated skin pigmentation, Palmoplantar hyperkeratosis, Premature graying of hair, White fore...	OMIM:613989
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Splenomegaly, Decreased specific anti-polysaccharide antibody level,...	OMIM:300853
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Failure to thrive, Eczematoid dermatitis, Seborrheic dermatitis	OMIM:619693
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Telangiectasia of the skin, Telangiectasia	ORPHA:79279
Chand Syndrome	Curly hair, Dry skin, Nail dysplasia, Hypohidrosis	ORPHA:1401
Generalized Eruptive Histiocytosis	Pruritus, Spotty hyperpigmentation, Maculopapular exanthema, Lymphadenopathy	ORPHA:157991
Intellectual Developmental Disorder, Autosomal Dominant 54	Anhidrosis, Eczema, Thin nail, Sparse hair, Dry skin	OMIM:617799
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Inguinal hernia, Arachnodactyly, Poor wound healing, Recurrent pneumonia, Excessive wrinkled skin...	OMIM:225400
Chronic Graft Versus Host Disease	Fasciitis, Alopecia, Poor wound healing, Urinary bladder inflammation, Thickened skin, Erythema, ...	ORPHA:99921
Gaucher Disease, Perinatal Lethal	Splenomegaly, Hepatosplenomegaly, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderm...	OMIM:608013
Distal Deletion 19P	Alopecia, Thick eyebrow	ORPHA:96129
Leishmaniasis	Splenomegaly, Skin ulcer, Weight loss, Lymphadenopathy, Rhinitis, Increased circulating antibody ...	ORPHA:507
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob...	OMIM:300755
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Pruritus, Splenomegaly, Lymphadenopathy, Weight loss	ORPHA:86893
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Sparse body hair	ORPHA:3068
Osteogenesis Imperfecta, Type Xx	Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow	OMIM:618644
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Bronchiectasis, Decreased circ...	OMIM:616100
Viss Syndrome	Chronic gastritis, Prominent superficial blood vessels, Increased circulating IgG level, Long toe...	OMIM:619472
Mucolipidosis Type Ii	Hip contracture, Dry hair, Inguinal hernia, Thickened skin, Splenomegaly, White hair, Fine hair, ...	ORPHA:576
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Cutis marmorata, Tapered finger, Preaxial hand polydactyly, Short toe,...	OMIM:620072
Craniofrontonasal Syndrome	Ridged nail, Curly hair, Split nail, Toe syndactyly, Broad hallux, Unilateral breast hypoplasia, ...	OMIM:304110
Microscopic Polyangiitis	Erythema, Cutis marmorata, Subcutaneous hemorrhage, Skin ulcer	ORPHA:727
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Highly arched eyebrow, Cryptorchidism, Splenomegaly, Fine hair, Low posterior hairline, Hepatospl...	OMIM:613563
Thrombocytopenia 1	Eczema, Increased circulating IgA level, Increased circulating IgE level, Bruising susceptibility...	OMIM:313900
Glass Syndrome	Sparse hair, Long eyelashes, Thin skin, Nail dysplasia	OMIM:612313
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Metaphyseal dysplasia, Coxa valga, Hypoplasia of the capital femoral epiphysis, Decreased circula...	OMIM:617425
Autosomal Dominant Cutis Laxa	Inguinal hernia, Redundant neck skin, Prematurely aged appearance, Redundant skin, Adducted thumb...	ORPHA:90348
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Reduced subcutaneous adipose tissue, Prominent fingertip pads, Curly hair, Macroorchidism, Premat...	OMIM:619950
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:615735
Vitamin D-Dependent Rickets, Type 2A	Bowing of the legs, Subperiosteal bone resorption, Femoral bowing, Tibial bowing, Fibular bowing,...	OMIM:277440
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dry hair, Low anterior hairline	OMIM:618569
Boutonneuse Fever	Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Lymphadenopathy, Increased circulat...	ORPHA:83313
Immunodeficiency 105	Skin rash, Absence of lymph node germinal center, Decreased circulating antibody level, Hepatospl...	OMIM:619924
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hypopigmentation ...	OMIM:214500
Immunodeficiency 52	Splenomegaly, Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Lymphade...	OMIM:617514
Mucopolysaccharidosis, Type Iiid	Thick eyebrow, Synophrys, Coarse hair, Facial hirsutism, Recurrent otitis media, Hirsutism	OMIM:252940
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Coarse hair, Nail dysplasia	OMIM:612394
Hajdu-Cheney Syndrome	Synophrys, Low anterior hairline, Coarse hair, Periodontitis, Hernia, Generalized hirsutism, Part...	ORPHA:955
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Sparse eyelashes, Pterygium of nails, Palmoplantar hyperkeratosis, Reticular h...	OMIM:224230
Genitopatellar Syndrome	Sparse scalp hair, Fine hair	ORPHA:85201
Lymphatic Malformation 12	Hydrocele testis, Hyperkeratosis, Inguinal hernia, Neonatal death	OMIM:620014
Erythema Elevatum Diutinum	Skin rash, Skin vesicle, Increased circulating antibody level, Vasculitis in the skin	ORPHA:90000
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Inflammatory abnormality of the skin, Hypopigmentation of the skin, Skin rash, ...	ORPHA:95455
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Alopecia totalis	OMIM:618775
Koolen-De Vries Syndrome Due To A Point Mutation	Prominent fingertip pads, Alopecia, Anomaly of lower limb diaphyses, Arachnodactyly, Eczema, Smal...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Prominent fingertip pads, Alopecia, Anomaly of lower limb diaphyses, Arachnodactyly, Eczema, Smal...	ORPHA:363958
Complete Androgen Insensitivity Syndrome	Acne, Sparse axillary hair, Sparse pubic hair, Absent pubic hair, Absent axillary hair	ORPHA:99429
Immunodeficiency, Common Variable, 1	Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphaden...	OMIM:607594
Hennekam-Beemer Syndrome	Skin vesicle, Urticaria, Erythema, Telangiectasia of the skin	ORPHA:2135
Mu-Heavy Chain Disease	Splenomegaly, Increased circulating antibody level, Lymphadenopathy, Weight loss	ORPHA:100024
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Syndactyly, Inguinal hernia, Prominent scalp veins, Cuti...	OMIM:151050
Subcorneal Pustular Dermatosis	Erythema	ORPHA:48377
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Erythema	OMIM:614878
Renpenning Syndrome 1	Sparse hair, Brittle hair, Sparse lateral eyebrow	OMIM:309500
46,Xy Sex Reversal 6	Hirsutism, Sparse axillary hair	OMIM:613762
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa...	OMIM:618213
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse hair, Recurrent pneumonia	OMIM:616449
Trisomy 20P	Thick hair, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Coarse hair, Th...	ORPHA:261318
Cahmr Syndrome	Generalized hypertrichosis	OMIM:211770
Oculodentodigital Dysplasia	Dry hair, Slow-growing hair, Uveitis, Fine hair, Sparse hair, Fragile nails	OMIM:164200
Neutrophilic Dermatosis, Acute Febrile	Erythema, Pyoderma gangrenosum	OMIM:608068
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	White hair, Fine hair	ORPHA:935
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Brittle hair	OMIM:124000
Mycetoma	Recurrent bacterial skin infections, Prominent superficial veins, Osteomyelitis, Abnormality of t...	ORPHA:2583
Letterer-Siwe Disease	Seborrheic dermatitis, Jaundice, Hepatosplenomegaly, Pallor, Stomatitis	OMIM:246400
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Otitis media, R...	ORPHA:331235
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Hyperhidrosis, Thickened skin, Acne, Seborrheic dermatitis	OMIM:167100
Costello Syndrome	Deep-set nails, Hyperextensibility of the finger joints, Curly hair, Redundant neck skin, Hyperpi...	OMIM:218040
Hallermann-Streiff Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Recurrent pneumonia, Fine hair, Sparse hair,...	OMIM:234100
Noonan Syndrome	Abnormal hair quantity, Cryptorchidism, Abnormality of the spleen, Abnormality of the lymphatic s...	ORPHA:648
Gcgr-Related Hyperglucagonemia	Necrolytic migratory erythema	ORPHA:438274
Seckel Syndrome	Sparse scalp hair, Sandal gap, Abnormal dental enamel morphology, Cachexia, Prematurely aged appe...	ORPHA:808
Zika Virus Disease	Maculopapular exanthema, Skin rash, Subcutaneous hemorrhage, Pruritus, Retinal pigment epithelial...	ORPHA:448237
Linear Nevus Sebaceus Syndrome	Alopecia	ORPHA:2612
Congenital Disorder Of Glycosylation, Type Iia	Sparse hair, Thick eyebrow, Long eyelashes, Hirsutism	OMIM:212066
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Increased circulating IgA level, Follicular hyperplasia, S...	OMIM:601859
Pyoderma Gangrenosum	Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Atrophic scars, Increased cir...	ORPHA:48104
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Lymphangioma, Excessive wrinkled skin, Ovarian neoplasm	ORPHA:137608
Lysinuric Protein Intolerance	Sparse hair, Fine hair, Pancreatitis, Cutis laxa	OMIM:222700
Cerebellofaciodental Syndrome	Sparse eyebrow, Fine hair	OMIM:616202
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Flexion contracture, Preaxial polydactyly, Femoral bowing, Knee flexion contracture, ...	OMIM:210710
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Fowler Urethral Sphincter Dysfunction Syndrome	Acne, Hirsutism	ORPHA:2795
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic mucocutaneous c...	ORPHA:911
Scalp-Ear-Nipple Syndrome	Abnormal fingernail morphology, Hypohidrosis, Pyelonephritis, Breast aplasia, Sparse hair	ORPHA:2036
Neuroocular Syndrome	Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Small nail, Distichiasis, Thick e...	OMIM:619539
Leprechaunism	Reduced subcutaneous adipose tissue, Enlarged ovaries, Thickened skin, Acanthosis nigricans, Hype...	ORPHA:508
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Lymphadenopathy, Urticaria, Arthritis, Recurrent aphth...	OMIM:611762
Mucopolysaccharidosis, Type Vii	Recurrent otitis media, Coarse hair, Thick eyebrow, Hirsutism	OMIM:253220
Hepatoerythropoietic Porphyria	Recurrent bacterial skin infections, Scarring, Pruritus, Scarring alopecia of scalp, Thickened sk...	ORPHA:95159
Wrinkly Skin Syndrome	Inguinal hernia, Lipodystrophy, Cryptorchidism, Excessive skin wrinkling on dorsum of hands and f...	ORPHA:2834
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Fine hair	OMIM:241080
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Short metacarpal, Brachydactyly, Rhizomelia, Small for gestational age, Short metatarsal, Small h...	OMIM:614813
Colchicine Poisoning	Myocarditis, Alopecia	ORPHA:31824
2P15P16.1 Microdeletion Syndrome	Inguinal hernia, Sandal gap, Camptodactyly of finger, Supernumerary nipple, Tapered finger, Spars...	ORPHA:261349
Nablus Mask-Like Facial Syndrome	Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,...	OMIM:608156
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Erythema, Cerebral edema	OMIM:618321
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Abnormality of the pineal gland, Eczema, Seborrheic dermatitis, Obesity, Clinodactyly of the 5th ...	ORPHA:369950
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Seborrheic dermatitis, Large for gestational age, Flexion contracture, Elbow fle...	OMIM:300868
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Limb joint contracture, Tapered finger, Seborrheic dermatitis, Splenomegaly, Flexion contracture,...	OMIM:301072
Cushing Disease	Plethora, Sparse scalp hair, Adrenal hyperplasia, Acne, Dorsocervical fat pad, Poor wound healing...	ORPHA:96253
Laron Syndrome	Prematurely aged appearance, Short toe, Osteoarthritis, Truncal obesity, Brachydactyly	ORPHA:633
Cushing Syndrome Due To Ectopic Acth Secretion	Plethora, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm ...	ORPHA:99889
Short Stature, Microcephaly, And Endocrine Dysfunction	Sparse hair, Acanthosis nigricans	OMIM:616541
Corneodermatoosseous Syndrome	Erythema, Abnormal fingernail morphology, Absent fingernail	ORPHA:3194
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Generalized hyperpigmentation, Splenomegaly, Recurrent pne...	ORPHA:47612
Bartsocas-Papas Syndrome 1	Bilateral cryptorchidism, Flexion contracture, Short phalanx of finger, Syndactyly, Alopecia, Abs...	OMIM:263650
Leigh Syndrome	Alopecia, Frontal hirsutism, Eczema, Hypertrichosis	ORPHA:506
Bainbridge-Ropers Syndrome	Highly arched eyebrow, Supernumerary nipple, Synophrys, Hirsutism, Long eyelashes, Thin eyebrow, ...	OMIM:615485
Melas	Erythema, Hypertrichosis	ORPHA:550
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak	ORPHA:1974
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Sparse hair, Fine hair	ORPHA:251028
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Increased circulating IgG4 level, Keratitis, Orchitis, Increased circulat...	ORPHA:449563
Autosomal Recessive Malignant Osteopetrosis	Pallor, Chronic rhinitis, Otitis media, Abnormality of hair texture	ORPHA:667
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Skin ulcer, Abnormality of skin pigmentation, Thin skin, Subcutaneous hemorrhage, Purpura	ORPHA:743
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Eczema, Synophrys, Sparse hair, Chronic otitis media, Toenail dysplasia, Hirsutism	OMIM:300966
Bethlem Myopathy	Multiple joint contractures, Camptodactyly of finger, Interphalangeal joint contracture of finger...	ORPHA:610
Hamamy Syndrome	Sparse eyelashes, Sparse eyebrow, Low posterior hairline, Sparse hair, Abnormal number of hair wh...	OMIM:611174
Lymphatic Filariasis	Glomerulonephritis, Circulating immune complexes, Lymphadenitis, Orchitis, Knee osteoarthritis, E...	ORPHA:2035
Ullrich Congenital Muscular Dystrophy 1	Flexion contracture, Talipes equinovarus, Follicular hyperkeratosis, Increased laxity of fingers,...	OMIM:254090
22Q11.2 Deletion Syndrome	Impaired T cell function, Hypoplasia of the thymus, Chronic otitis media, Hypoparathyroidism, Acn...	ORPHA:567
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Prematurely aged appearance, Skin rash, Cachexia, Urticaria, Cutaneous photosensitivity, Numerous...	ORPHA:220295
Trichinellosis	Skin rash, Increased circulating IgE level, Conjunctivitis	ORPHA:863
Lymphoproliferative Syndrome, X-Linked, 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Splenomegaly, Fulminant hepatitis, De...	OMIM:308240
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormality of skin pigmentation, Warfarin-induced skin necrosis, Thin skin, Purpura	ORPHA:745
Cerebellar-Facial-Dental Syndrome	Sparse hair, Sparse eyebrow, Fine hair	ORPHA:444072
Proteus Syndrome	Central heterochromia, Neoplasm of the thymus, Abnormal finger morphology, Abnormality of skin pi...	ORPHA:744
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology, Abnormal mast cell morphology, Scarring	ORPHA:398189
Scleromyxedema	Aged leonine appearance, Pruritus, Thickened skin, Paraproteinemia, Generalized abnormality of sk...	ORPHA:167635
Limited Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Foot joint contracture, Hypopigmented skin patches, Skin ulcer, Abnor...	ORPHA:220402
Parkes Weber Syndrome	Abnormal femoral metaphysis morphology, Prominent superficial blood vessels, Skin ulcer, Abnormal...	ORPHA:90307
Teebi-Shaltout Syndrome	Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair	OMIM:272950
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Sparse eyelashes, Reticulated skin pigmentation, Cryptorchidis...	OMIM:305000
Goldberg-Shprintzen Syndrome	Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow	OMIM:609460
Classic Hodgkin Lymphoma	Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Weight loss, Bone marrow hypocellularity	ORPHA:391
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Recurrent skin infections, Pneumonia, Abnormal fingertip morphology, Paronychia, Fragil...	ORPHA:79404
Autoimmune Hepatitis	Viral hepatitis, Glomerulonephritis, Spider hemangioma, Splenomegaly, Fulminant hepatitis, Jaundi...	ORPHA:2137
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Clinodactyly of the 5th finger, Short phalanx of finger, Genu varum, Hypoplasia o...	OMIM:274000
Complement Component 5 Deficiency	Decreased circulating complement C5 concentration, Reduced hemolytic complement activity, General...	OMIM:609536
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Metaphyseal cupping of metacarpals, Short f...	ORPHA:163966
Lateral Meningocele Syndrome	Coarse hair	OMIM:130720
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Small for gestational age, Decreased response to growth hormone stimulation test, Spa...	OMIM:614114
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Joint contracture of the 5th finger, Hyper...	OMIM:602782
Noonan Syndrome With Multiple Lentigines	Cryptorchidism, Melanocytic nevus, Excessive wrinkled skin, Multiple lentigines, Webbed neck, Fre...	ORPHA:500
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lipodystrophy, Skin rash, Failure to thrive in infancy, Increased circulating IgA level, Lymphade...	OMIM:617099
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Skin rash, Pruritus, Splenomegaly, Angioedema, Uveitis, Lymphadenopathy, Arthritis,...	ORPHA:36412
Mandibuloacral Dysplasia Progeroid Syndrome	Sandal gap, Progeroid facial appearance, Decreased fibular diameter, Sparse eyebrow, Flexion cont...	OMIM:619127
Erythroderma Desquamativum	Failure to thrive, Seborrheic dermatitis	ORPHA:314
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Short nail, Broad distal phalanges of all fi...	OMIM:218330
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Pre...	ORPHA:3440
Adrenomyeloneuropathy	Frontal balding, Fine hair	ORPHA:139399
Immunodeficiency 97 With Autoinflammation	Recurrent skin infections, Eczema, Mediastinal lymphadenopathy, Splenomegaly, Enterocolitis, Decr...	OMIM:619802
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepa...	OMIM:613101
Chédiak-Higashi Syndrome	Recurrent bacterial skin infections, Hypopigmentation of hair, Abnormality of retinal pigmentatio...	ORPHA:167
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Pilomatrixoma, Multinodular goiter, Hyperkeratosis, Hammertoe, Lipoma	OMIM:620189
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Glomerulonephritis, Increased circulating antibody level, Pneumonia	OMIM:247800
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Mullerian Aplasia And Hyperandrogenism	Acne, Hirsutism	OMIM:158330
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Failure to thrive, Increased circulating antibody level	OMIM:615285
Kaufman Oculocerebrofacial Syndrome	Sparse hair, Thin skin, Sparse eyebrow	OMIM:244450
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Thick hair, Thickened skin, Flexion contracture, Hepatosplen...	ORPHA:505248
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Mucopolysaccharidosis Type 3	Inguinal hernia, Thick hair, Adenoiditis, Avascular necrosis of the capital femoral epiphysis, Sp...	ORPHA:581
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Decreased testicular size, Cryptorchidism, Flexion contracture, Short foot, Large hands, Patchy a...	OMIM:300534
Kawasaki Disease	Palmoplantar erythema, Abnormality of nail color, Jaundice, Edema	ORPHA:2331
Xfe Progeroid Syndrome	Failure to thrive, Prematurely aged appearance, Cachexia, Absence of subcutaneous fat, Corneal sc...	OMIM:610965
Geroderma Osteodysplastica	Hernia, Prematurely aged appearance, Redundant skin, Thin skin	ORPHA:2078
Aggressive Systemic Mastocytosis	Maculopapular exanthema, Pruritus, Hypersplenism, Weight loss, Urticaria, Hepatosplenomegaly, Lym...	ORPHA:98850
Phosphoribosylpyrophosphate Synthetase Superactivity	Sparse hair, Gout	OMIM:300661
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Recurrent pneumonia, Pyoderma gangrenosum, Bronchiectasis, Lymphadenopathy, Recurre...	OMIM:150550
Melnick-Needles Syndrome	Omphalocele, Short humerus, Coxa valga, Flared metaphysis, Cone-shaped epiphyses of the phalanges...	OMIM:309350
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Hypoplastic toenai...	ORPHA:444077
Immunodeficiency 67	Increased circulating IgE level	OMIM:607676
White-Sutton Syndrome	Congenital diaphragmatic hernia, Obesity, Sparse hair, Failure to thrive, Broad thumb, Brachydactyly	OMIM:616364
Chikungunya	Facial edema, Erythema, Pedal edema, Joint swelling, Skin vesicle, Cutaneous photosensitivity, Pe...	ORPHA:324625
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Purpura, Monoclonal elev...	ORPHA:91139
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Follicular hyperplasia, Lymphadenopathy, Decreased circulating...	OMIM:619846
Orofaciodigital Syndrome I	Sparse hair, Alopecia, Dry hair	OMIM:311200
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Bowing of the long bones, Abnormality of retinal pigmentation, Rhizomelia,...	ORPHA:175
Vascular Ehlers-Danlos Syndrome	Redundant skin, Osteoarthritis, Abnormality of skin pigmentation, Periodontitis, Alopecia, Premat...	ORPHA:286
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Pustule, Splenomegaly, Flexi...	ORPHA:77297
Leukocyte Adhesion Deficiency, Type Iii	Recurrent skin infections, Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly, Pete...	OMIM:612840
Arterial Tortuosity Syndrome	Inguinal hernia, Arachnodactyly, Redundant skin, Rocker bottom foot, Coxa valga, Avascular necros...	ORPHA:3342
Q Fever	Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditis, Splenomegaly, Hepat...	ORPHA:781
Cohen Syndrome	Finger syndactyly, Abnormality of retinal pigmentation, Arachnodactyly, Thick hair, Sandal gap, T...	ORPHA:193
Dyskeratosis Congenita, Autosomal Recessive 3	Abnormality of skin pigmentation, Nail dystrophy, Bone marrow hypocellularity	OMIM:613988
Deafness-Lymphedema-Leukemia Syndrome	Splenomegaly, Weight loss, Lymphadenopathy, Pallor, Bone marrow hypocellularity, Chronic otitis m...	ORPHA:3226
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Lipodystrophy, Paraproteinemia, Decreased circulating c...	ORPHA:329918
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Perianal abscess, Peritonitis, Cervical lymphadenopathy, Re...	ORPHA:2686
Ras-Associated Autoimmune Leukoproliferative Disorder	Decreased lymphocyte apoptosis, Splenomegaly, Increased circulating antibody level, Follicular hy...	OMIM:614470
Kyphoscoliotic Ehlers-Danlos Syndrome	Inguinal hernia, Arachnodactyly, Poor wound healing, Synophrys, Atypical scarring of skin, Talipe...	ORPHA:536545
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the...	ORPHA:99413
Mosaic Monosomy X	Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the...	ORPHA:99228
Monosomy X	Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the...	ORPHA:99226
Turner Syndrome	Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the...	ORPHA:881
Pearson Marrow-Pancreas Syndrome	Erythema, Pallor, Hydrops fetalis, Dehydration	OMIM:557000
Normosmic Congenital Hypogonadotropic Hypogonadism	Sparse body hair, Breast hypoplasia	ORPHA:432
Phakomatosis Pigmentokeratotica	Patchy alopecia, Hyperhidrosis	ORPHA:2874
Cockayne Syndrome Type 2	Scarring, Progeroid facial appearance, Hypermelanotic macule, Cryptorchidism, Flexion contracture...	ORPHA:90322
Sarcoidosis	Alopecia, Maculopapular exanthema, Scarring, Hyperpigmentation of the skin, Erythema nodosum, Enl...	ORPHA:797
Autosomal Recessive Robinow Syndrome	Finger syndactyly, Alopecia, Broad hallux phalanx, Toe syndactyly, Brachydactyly, Sandal gap, Cam...	ORPHA:1507
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Arachnodactyly, Lip...	OMIM:616914
Occipital Horn Syndrome	Coxa vara, Humerus varus, Coarse hair, Short palm, Femoral hernia, Scarring, Hiatus hernia, Hepat...	ORPHA:198
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Alopecia	ORPHA:2396
Myhre Syndrome	Overlapping toe, Small for gestational age, Thickened skin, Short toe, Cryptorchidism, 2-3 toe sy...	OMIM:139210
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Decreased circulating complemen...	ORPHA:289390
Noonan Syndrome 1	Failure to thrive in infancy, Cryptorchidism, Synovitis, Low posterior hairline, Cafe-au-lait spo...	OMIM:163950
Distal Deletion 12Q	Late onset atopic dermatitis, Broad hallux, Overlapping toe, Failure to thrive in infancy, Unilat...	ORPHA:96149
Mast Cell Sarcoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Occipital Horn Syndrome	Coarse hair, Redundant skin, Pili torti	OMIM:304150
6Q Terminal Deletion Syndrome	Hyperkeratosis, Low anterior hairline, Highly arched eyebrow	ORPHA:75857
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Tapered finger, Cryptorchidism, Absence of subcutaneous fat, Small hand, Decrea...	OMIM:620005
Toxic Epidermal Necrolysis	Acantholysis, Erythema, Skin ulcer, Weight loss, Conjunctivitis, Pancreatitis	ORPHA:537
Cranioectodermal Dysplasia 2	Syndactyly, Inguinal hernia, Rhizomelia, Cholangitis, Sparse eyelashes, Sparse eyebrow, Splenomeg...	OMIM:613610
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair	OMIM:619934
Pseudomyxoma Peritonei	Inflammation of the large intestine, Lymphadenopathy, Hernia, Weight loss	ORPHA:26790
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Pericarditis, Myositis, Skin rash, Hypermelanotic macule, Orchitis, Splenomegaly, Peri...	ORPHA:32960
Adult-Onset Nemaline Myopathy	Paraproteinemia, Flexion contracture	ORPHA:171442
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Eczema, Cutis marmorata, Erythema nodosum, Splenomegaly, Skin ulcer, Decreased circula...	OMIM:615688
Coccidioidomycosis	Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Pruritus, Erythema nodosum, Peritonitis, Abnor...	ORPHA:228123
Stevens-Johnson Syndrome	Acantholysis, Erythema, Weight loss, Conjunctivitis, Pancreatitis	ORPHA:36426
Lymphoproliferative Syndrome 2	Splenomegaly, Recurrent pneumonia, EBV encephalitis, Uveitis, Decreased circulating antibody leve...	OMIM:615122
Vipoma	Erythema, Dehydration, Intermittent jaundice, Ascites, Subcutaneous lipoma	ORPHA:97282
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Eczema, Perianal abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, R...	OMIM:618935
Caffey Disease	Cortical thickening of long bone diaphyses, Increased circulating antibody level, Cellulitis	ORPHA:1310
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis	OMIM:618267
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Alopecia, Inguinal hernia, Femoral hernia, Camptodactyly of finger, Micromelia...	ORPHA:3107
Arterial Tortuosity Syndrome	Inguinal hernia, Arachnodactyly, Congenital diaphragmatic hernia, Hiatus hernia, Progeroid facial...	OMIM:208050
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Inguinal hernia, Cutis marmorata, High...	OMIM:303600
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Erythema	OMIM:614653
Blau Syndrome	Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Erythema...	ORPHA:90340
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Redundant neck skin, Brachydactyly, Eczema, Short metatarsal, Obesity, Pseudohy...	OMIM:617157
Cholestasis-Lymphedema Syndrome	Splenomegaly, Jaundice, Abnormality of the lymphatic system, Abnormality of skin pigmentation, Mu...	ORPHA:1414
Hurler Syndrome	Camptodactyly of finger, Abnormality of the tonsils, Splenomegaly, Abnormality of skin pigmentati...	ORPHA:93473
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
American Trypanosomiasis	Skin rash, Myocarditis, Splenomegaly, Lymphadenopathy, Pallor, Infectious encephalitis	ORPHA:3386
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Inguinal hernia, Hyperparathyroidism, Abnormal dental enamel morphology, Crypt...	ORPHA:534
Cockayne Syndrome Type 1	Foot joint contracture, Scarring, Progeroid facial appearance, Hypermelanotic macule, Cryptorchid...	ORPHA:90321
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Flexion contracture, Genu valgum, Abdominal obesity, Hypoplasia of the ovary, Generaliz...	OMIM:619321
Familial Mediterranean Fever	Ascites, Erythema, Pedal edema	ORPHA:342
African Trypanosomiasis	Pericarditis, Alopecia, Keratitis, Myocarditis, Pruritus, Jaundice, Splenomegaly, Weight loss, Ab...	ORPHA:3385
Primary Myelofibrosis	Cachexia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Pallor, Ecchymosis, Petechiae, Purpura	ORPHA:824
Familial Tumoral Calcinosis	Erythema	ORPHA:53715
Familial Papillary Or Follicular Thyroid Carcinoma	Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Goiter	ORPHA:319487
Cowden Syndrome	Brachydactyly, Enlarged polycystic ovaries, Goiter, Hypopigmented skin patches, Melanocytic nevus...	ORPHA:201
Mevalonic Aciduria	Skin rash, Failure to thrive in infancy, Fluctuating splenomegaly, Increased circulating IgD leve...	OMIM:610377
Adams-Oliver Syndrome 1	Alopecia, Small nail, Supernumerary nipple	OMIM:100300
Hyper-Igd Syndrome	Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Lymp...	OMIM:260920
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Goiter	ORPHA:97290
Trichorhinophalangeal Syndrome, Type Ii	Chronic gastritis, Sparse scalp hair, Redundant skin in infancy, Recurrent pneumonia, Cutis laxa,...	OMIM:150230
Warburg-Cinotti Syndrome	Joint swelling, Erythema, Thin skin, Poor wound healing	OMIM:618175
Digeorge Syndrome	Inguinal hernia, Acne, Impaired T cell function, Femoral hernia, Seborrheic dermatitis, Parathyro...	OMIM:188400
Scorpion Envenomation	Pulmonary edema, Erythema, Edema, Purpura	ORPHA:466677
Transketolase Deficiency	Conjunctivitis, Uveitis, Seborrheic dermatitis	ORPHA:488618
Brucellosis	Knee osteoarthritis, Increased circulating IgG level, Infectious encephalitis, Epididymitis, Lymp...	ORPHA:1304
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand...	ORPHA:3103
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Sparse axillary hair, Splenomegaly, Pulmonary lymphan...	ORPHA:2136
Cockayne Syndrome Type 3	Dry hair, Splenomegaly, Flexion contracture, Premature graying of hair, Keratoconjunctivitis sicc...	ORPHA:90324
Neurocardiofaciodigital Syndrome	Sparse hair, Sparse eyebrow	OMIM:619869
Microphthalmia With Linear Skin Defects Syndrome	Abnormal eyelash morphology, Erythema, Abnormality of the nail	ORPHA:2556
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Sinusitis, Aplasia of the thymus, Pneumonia, Atypical or prolonged hepatitis, ...	ORPHA:83471
Interstitial Lung Disease 2	Clubbing of fingers, Increased circulating antibody level	OMIM:178500
Ring Chromosome 13 Syndrome	Aplasia/Hypoplasia of the thumb, Alopecia, Hypoplasia of the gallbladder, Aplasia/hypoplasia invo...	ORPHA:96176
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Inguinal hernia, Hypoplastic fingernail, Femoral hernia, Redundant skin, Abnor...	ORPHA:2658
Mednik Syndrome	Erythema	OMIM:609313
Legionnaires Disease	Pericarditis, Myocarditis, Jaundice, Splenomegaly, Hepatitis, Endocarditis, Lymphadenopathy, Bone...	ORPHA:549
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Abnormal distal phalanx morphology of finger, Micromelia, Abnormal metacarpal morpholog...	ORPHA:2636
Hereditary Amyloidosis With Primary Renal Involvement	Primary testicular failure, Weight loss, Hepatosplenomegaly, Tubulointerstitial nephritis, Lympha...	ORPHA:85450
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Inguinal hernia, Pneumonia, Eczema, Biliary hyperplasia, Splenomegal...	OMIM:619991
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Sparse hair, Nail dysplasia	OMIM:616682
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Failure to thrive, Decreas...	OMIM:242860
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Broad hallux, Aplasia of the thymus, Sparse eyebrow, Hydrocele testis, Prolonged n...	OMIM:620186
Pneumocystosis	Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Increased circulating antibody...	ORPHA:723
Immunodeficiency 55	Recurrent skin infections, Eczema, Lymphadenopathy, Ichthyosis, Dry skin	OMIM:617827
Coffin-Siris Syndrome 1	Dry hair, Congenital diaphragmatic hernia, Prominent interphalangeal joints, Prominent fingertip ...	OMIM:135900
Cutis Laxa, Autosomal Dominant 1	Inguinal hernia, Prematurely aged appearance, Redundant skin, Poor wound healing, Progeroid facia...	OMIM:123700
Cystic Echinococcosis	Abnormality of the testis size, Jaundice, Weight loss, Urticaria, Membranous nephropathy, Ovarian...	ORPHA:400
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Skin rash, Splenomegaly, Lymphadenopathy, Juvenile rheumatoid art...	ORPHA:85414
Degcags Syndrome	Synophrys, Low anterior hairline, Premature graying of hair, Abnormality of skin pigmentation, Pa...	OMIM:619488
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Skin rash, Pneumonia, Chilblains, Splenomegaly, ...	OMIM:615846
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Hemophagocytic Lymphohistiocytosis, Familial, 2	Skin rash, Reduced natural killer cell activity, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymp...	OMIM:603553
Immunodeficiency 82 With Systemic Inflammation	Colitis, Pustular rash, Bronchiectasis, Hepatitis, Lymphadenopathy, Decreased lymphocyte prolifer...	OMIM:619381
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Glomerulonephritis, Increased circulating IgA level	OMIM:314000
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Pneumonia, Hypermelanotic macule, Metaphyseal sclerosis, Metaphyseal widen...	OMIM:607944
Angiostrongyliasis	Increased circulating IgA level, Pruritus, Increased circulating specific IgE antibody, Increased...	ORPHA:74
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Frontal balding, Highly arched eyebrow, Synophrys, Long lower eyelashes, Palmoplantar erythema	OMIM:612474
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Failure to thrive in infancy, Absence of lymph node germinal center, Jaundice, Chronic mucocutane...	ORPHA:79124
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the ovary, Abnormal lymph node morphology	ORPHA:543
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Inguinal hernia, Cutis laxa, Atrophic scars, Talipes equinovarus, Follicular hyperkeratosis, Umbi...	OMIM:614557
Chilton-Okur-Chung Neurodevelopmental Syndrome	Sparse scalp hair, Highly arched eyebrow, Sparse eyebrow, Synophrys, Low anterior hairline, Long ...	OMIM:619841
Zttk Syndrome	Sparse eyebrow, Curly hair, Broad eyebrow	OMIM:617140
Urachal Cyst	Erythema	ORPHA:488
Systemic Mastocytosis With Associated Hematologic Neoplasm	Pruritus, Splenomegaly, Weight loss, Urticaria, Lymphadenopathy, Pallor, Abnormal mast cell morph...	ORPHA:98849
Kanzaki Disease	Telangiectasia of the oral mucosa, Lip telangiectasia, Angiokeratoma corporis diffusum, Hyperkera...	OMIM:609242
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Sparse pubic hair, Sparse body hair, Sparse axillary hair	ORPHA:90796
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Congenital di...	OMIM:613406
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Accessory spleen, Inguinal hernia, Sandal gap, Redundant ski...	OMIM:613177
Glucagonoma	Intermittent jaundice, Ascites, Subcutaneous lipoma, Necrolytic migratory erythema	ORPHA:97280
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Bronchiectasis, Increased circulating IgM level, Decreased circul...	OMIM:616005
Saul-Wilson Syndrome	Short metacarpal, Prominent superficial veins, Pseudoepiphyses of the metacarpals, Progeroid faci...	OMIM:618150
Campomelia, Cumming Type	Bowing of the long bones, Prematurely aged appearance, Micromelia, Pancreatic cysts, Clubbing of ...	ORPHA:1318
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level	ORPHA:206594
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Lymphadenitis, Splenomega...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Lymphadenitis, Splenomega...	OMIM:233710
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Zollinger-Ellison Syndrome	Jaundice, Erythema	ORPHA:913
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level	OMIM:202700
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Lymphadenitis, Splenomega...	OMIM:233690
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Hyperpigmented streaks, Camptodactyly of 2n...	OMIM:601803
Primary Biliary Cholangitis	Increased circulating IgA level, Pruritus, Jaundice, Hepatitis, Gastrointestinal inflammation, In...	ORPHA:186
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Lymphadenopathy, Inflammation of the la...	OMIM:617718
Multiple Endocrine Neoplasia Type 4	Erythema, Subcutaneous lipoma	ORPHA:276152
Alveolar Echinococcosis	Cholangitis, Pancreatic cysts, Jaundice, Weight loss, Abnormal spleen morphology, Increased circu...	ORPHA:284
Fabry Disease	Conjunctival telangiectasia, Telangiectasia of the skin, Angiokeratoma, Abnormal femur morphology...	ORPHA:324
Common Variable Immunodeficiency	Failure to thrive in infancy, Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating anti...	ORPHA:1572
Immunodeficiency 31C	Osteomyelitis, Eczema, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, ...	OMIM:614162
Steinert Myotonic Dystrophy	Early balding, Alopecia	ORPHA:273
Classical Ehlers-Danlos Syndrome	Inguinal hernia, Prematurely aged appearance, Phalangeal dislocation, Poor wound healing, Hiatus ...	ORPHA:287
Immunodeficiency 98 With Autoinflammation, X-Linked	Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Recurrent aphthous stomatitis, Chroni...	OMIM:301078
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Angiokeratoma ...	ORPHA:79280
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology, Iridocyclitis, Kne...	ORPHA:85408
Gaucher Disease Type 1	Hypersplenism, Splenomegaly, Osteoarthritis, Increased circulating antibody level, Bruising susce...	ORPHA:77259
Sarcoidosis, Susceptibility To, 1	Abnormality of T cell physiology, Generalized lymphadenopathy, Iridocyclitis, Mediastinal lymphad...	OMIM:181000
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Absent nipple, Highly arched eyebrow, Upper limb peromelia, Syn...	ORPHA:1299
Fanconi Anemia, Complementation Group A	Anemic pallor, Small for gestational age, Absent thumb, Absent radius, Short thumb, Cryptorchidis...	OMIM:227650
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Progeroid facial appearance, Congenital diaphragmatic hernia, Cutane...	OMIM:615919
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Lymphadenitis, Splenomega...	OMIM:306400
Fanconi Anemia, Complementation Group D2	Anemic pallor, Small for gestational age, Absent thumb, Absent radius, Short thumb, Preaxial hand...	OMIM:227646
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hallux valgus, Curly hair, Overlapping toe, Postaxial polydactyly, Tapered finger, Curved fingers...	ORPHA:480880
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Decreased lymphocyte proliferation in response to anti-CD3, Absent peripheral lymph no...	OMIM:600802
Primary Sclerosing Cholangitis	Spider hemangioma, Pruritus, Splenomegaly, Jaundice, Dilated superficial abdominal veins, Hepatit...	ORPHA:171
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Progeroid facial appearance, Recurrent pneumonia, Flexion contra...	OMIM:614098
Branchiooculofacial Syndrome	Proximal placement of thumb, Supernumerary nipple, Short thumb, Preaxial hand polydactyly, Crypto...	OMIM:113620
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the lymphatic system, Abnormal lymph node morphology, Abnormal testis morphology, ...	ORPHA:54251
Ebola Hemorrhagic Fever	Acute pancreatitis, Increased circulating antibody level, Hepatitis, Maculopapular exanthema	ORPHA:319218
Congenital Analbuminemia	Small for gestational age, Lipodystrophy, Increased circulating antibody level, Obesity	ORPHA:86816
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Enlarged lacrimal gl...	ORPHA:79078
Chromosome Xp11.3 Deletion Syndrome	Pigmentary retinopathy, Progeroid facial appearance, Cryptorchidism	OMIM:300578
Crimean-Congo Hemorrhagic Fever	Acute pancreatitis, Erythema nodosum, Myocarditis, Orchitis, Epididymitis, Jaundice, Splenomegaly...	ORPHA:99827
Menke-Hennekam Syndrome 1	Sparse hair, Long eyelashes, Thick eyebrow	OMIM:618332
Xeroderma Pigmentosum, Complementation Group B	Freckling, Cutaneous photosensitivity, Pigmentary retinopathy, Progeroid facial appearance	OMIM:610651
Adult Idiopathic Neutropenia	Increased circulating IgM level, Recurrent aphthous stomatitis	ORPHA:2688
Baller-Gerold Syndrome	Erythema	OMIM:218600
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Curly hair, Absent gallbladder, Arachnodactyly, Failure to thrive in infancy, Absent thumb, Spars...	ORPHA:500150
Rift Valley Fever	Skin rash, Jaundice, Hepatitis, Uveitis, Increased circulating IgG level, Increased circulating I...	ORPHA:319251
Al Amyloidosis	Abnormal salivary gland morphology, Bruising susceptibility, Increased circulating antibody level...	ORPHA:85443
Marburg Hemorrhagic Fever	Pericarditis, Skin rash, Maculopapular exanthema, Orchitis, Jaundice, Uveitis, Lymphadenopathy, A...	ORPHA:99826
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Syndactyly, Hypoplasia of the ulna, Short humerus, Ankle flexion contracture, A...	OMIM:268300
Japanese Encephalitis	Elbow flexion contracture, Increased circulating IgM level, Increased circulating antibody level,...	ORPHA:79139
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit...	ORPHA:117
Castleman Disease	Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Follicular hyperp...	ORPHA:160
Gaucher Disease	Osteomyelitis, Splenomegaly, Osteoarthritis, Hepatitis, Abnormality of skin pigmentation, Increas...	ORPHA:355
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Pruritus, Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflamm...	ORPHA:562639
Lassa Fever	Increased circulating IgM level, Jaundice, Conjunctivitis	ORPHA:99824
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Weight loss, Lymphadenopathy, Increased circulatin...	ORPHA:29073
Williams Syndrome	Hallux valgus, Inguinal hernia, Failure to thrive in infancy, Redundant skin, Abnormal dental ena...	ORPHA:904
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level, Weight loss	ORPHA:90003
Cerebrotendinous Xanthomatosis	Prematurely aged appearance, Abnormal tibia morphology, Abnormal finger morphology, Abnormal femu...	ORPHA:909
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Abnormality of retinal pigmentation, Skin rash, Inter...	ORPHA:91500
Pseudoxanthoma Elasticum	Civatte bodies, Cutis laxa	OMIM:264800
Primrose Syndrome	Sparse scalp hair, Hip contracture, Absent facial hair, Metatarsus adductus, Bilateral cryptorchi...	OMIM:259050
Lysinuric Protein Intolerance	Glomerulonephritis, Decreased response to growth hormone stimulation test, Decreased circulating ...	ORPHA:470
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level	ORPHA:99965
Alström Syndrome	Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Otitis med...	ORPHA:64
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Pancreatoblastoma	Abnormal lymph node morphology, Jaundice, Pancreatic calcification, Weight loss	ORPHA:677
Tick-Borne Encephalitis	Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l...	ORPHA:297
Aapoaiv Amyloidosis	Paraproteinemia	ORPHA:439232
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Increased circulating antibody level	OMIM:606002
Cysticercosis	Iridocyclitis, Increased circulating antibody level, Infectious encephalitis	ORPHA:1560
Gaucher Disease Type 3	Splenomegaly, Increased circulating antibody level	ORPHA:77261
Yellow Fever	Increased circulating interleukin 6 concentration, Acute pancreatitis, Skin rash, Jaundice, Pancr...	ORPHA:99829

Histopathology

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

There is no histopathology data for Dsg4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dsg4.

No publications found that use IMPC mice or data for Dsg4.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Dsg4^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Dsg4^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Dsg4^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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