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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 (1408 diseases)

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

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

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

Disease	Matching phenotypes	Source
Hypotrichosis 1	Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar...	OMIM:605389
Hypotrichosis 15	Sparse scalp hair	OMIM:620177
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Hypotrichosis 11	Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Hypotrichosis 10	Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair	OMIM:614238
Keratosis Palmoplantaris Striata Ii	Abnormal hair morphology, Epidermal acanthosis, Palmoplantar keratoderma, Abnormality of the nail	OMIM:612908
Hypotrichosis 2	Abnormality of the nail, Sparse scalp hair	OMIM:146520
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Onychogryposis	OMIM:617756
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Pruritus, Perifollicular hy...	ORPHA:505
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Dry skin, Trichody...	ORPHA:3361
Hypotrichosis Simplex Of The Scalp	Allergic rhinitis, Atopic dermatitis, Sparse scalp hair, Fine hair, Alopecia of scalp, Parakerato...	ORPHA:90368
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Sparse hair, Thin toenail, Dystrophic toenail	OMIM:614928
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Abnormal fingernail morphol...	ORPHA:2722
Bathing Suit Ichthyosis	Thickened skin, Alopecia, Nail dystrophy, Ichthyosis, Parakeratosis, Hypohidrosis, Palmoplantar h...	ORPHA:100976
Insulin-Resistance Syndrome Type A	Generalized hirsutism, Hyperkeratosis	ORPHA:2297
Hypotrichosis 6	Erythema, Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair	OMIM:607903
Woolly Hair, Autosomal Recessive 3	Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair	OMIM:616760
Hair Defect With Photosensitivity And Impaired Intellectual Development	Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair, Cutaneous photosensitivity	OMIM:234030
Erosive Pustular Dermatosis Of The Scalp	Abnormal hair morphology, Erythema, Scarring alopecia of scalp	ORPHA:222
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Sparse eyebrow, Congenital alopecia totalis, Generalized hyperkeratosis, Dry skin, Alopecia of sc...	ORPHA:2269
Anonychia With Flexural Pigmentation	Abnormal hair morphology, Alopecia of scalp, Follicular hyperkeratosis, Anonychia, Hyperkeratosis	ORPHA:69125
Uncombable Hair Syndrome 3	Pili canaliculi, Brittle hair, Uncombable hair, Curly hair	OMIM:617252
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hyperg...	ORPHA:79395
Ichthyosis With Erythrokeratoderma	Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Leukonychia, Diffuse p...	OMIM:620507
Peeling Skin Syndrome 3	Abnormal hair morphology, Erythema, White scaling skin	OMIM:616265
Alopecia Universalis Congenita	Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair	OMIM:203655
Hidrotic Ectodermal Dysplasia	Thickened skin, Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, ...	ORPHA:189
Ectodermal Dysplasia/Skin Fragility Syndrome	Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Palm...	OMIM:604536
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Congenital ichthyosiform erythroderma, Nail dystrophy, Ichthyosis, Nail dysplasia, Para...	OMIM:242300
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Erythema, Patchy alopecia, Scarring alopecia of scalp	ORPHA:346
Alopecia Areata 2	Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis	OMIM:610753
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Ichthyosis, Annular Epidermolytic, 1	Erythema, Orthokeratosis, Hyperparakeratosis, Abnormal hair morphology, Ichthyosis, Palmoplantar ...	OMIM:607602
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp, Di...	OMIM:617294
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Cutaneous photosensitivity, Brittle hair	OMIM:618546
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Pili Torti	Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn...	ORPHA:2889
Kerion Celsi	Alopecia, Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous ab...	ORPHA:499
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair	OMIM:158000
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Plantar hyperkeratosis, Alopecia, Pruritus, Nail dystrophy	OMIM:616487
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Ectodermal Dysplasia 4, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Hair-nail ectodermal dysplasia, Sparse body hair, Cong...	OMIM:602032
Ichthyosis, Hystrix-Like, With Deafness	Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Sparse eye...	OMIM:602540
Candidiasis, Familial, 1	Alopecia, Chronic mucocutaneous candidiasis	OMIM:114580
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Parana Hard Skin Syndrome	Generalized hirsutism, Thickened skin, Hyperkeratosis	ORPHA:2812
Erythrokeratodermia Variabilis Et Progressiva 2	Erythema, Hypertrichosis	OMIM:617524
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Perifolliculitis, Alopecia, Alopecia of scalp	OMIM:260910
Bazex Syndrome	Yellow nails, Palmoplantar keratoderma, Lip hyperpigmentation, Liposarcoma, Nail dystrophy, Parak...	ORPHA:166113
Netherton Syndrome	Allergic rhinitis, Decreased circulating IgG level, Brittle scalp hair, Sparse eyebrow, Eczematoi...	OMIM:256500
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Ichthyosis With Confetti	Hypertrichosis, Ichthyosis, Hypoplastic nipples, Palmoplantar hyperkeratosis, Erythroderma, Scali...	OMIM:609165
Olmsted Syndrome 2	Alopecia universalis, Cheilitis, Palmoplantar keratoderma, Perioral hyperkeratosis, Flexion contr...	OMIM:619208
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Dry skin, Nail dystrophy, Nail dysplasia, Facial erythema, Palmoplantar hyperke...	OMIM:212360
Ichthyosis Hystrix Of Curth-Macklin	Nail dystrophy, Ichthyosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyper...	ORPHA:79503
Alopecia Areata 1	Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits	OMIM:104000
Monilethrix	Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma...	ORPHA:573
Crandall Syndrome	Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Ectodermal Dysplasia 7, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Hair-nail ectodermal dysplasia, Dystro...	OMIM:614929
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Hyperkeratotic papule, Alopecia, Mottled pigmentation, Hypermelanotic macule, Nail dystrophy, Hyp...	ORPHA:79397
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Palmoplantar erythema, Brittle hair, Spars...	OMIM:104100
Dissecting Cellulitis Of The Scalp	Abnormal hair morphology, Pruritus, Recurrent skin infections	ORPHA:345
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Woolly hair, Palmoplantar keratoderma	OMIM:610476
Uncombable Hair Syndrome 2	Pili canaliculi, Uncombable hair	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 pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e...	ORPHA:1808
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Erythema, Atopic dermatitis, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkerat...	ORPHA:530838
Hypotrichosis 7	Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill...	OMIM:604379
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Erythema, Palmoplantar keratoderma, Leukonychia, Nail dystrophy, Ichthyosis, Parakeratosis, Pruri...	OMIM:615821
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Hypopigmentation of the skin, Dystrophic toenail, Failure to thrive, Abnormal fingernail morpholo...	ORPHA:89838
Congenital Ichthyosiform Erythroderma	Alopecia, Palmoplantar keratoderma, Keratitis, Ichthyosis, Hypohidrosis, Erythroderma, Pruritus, ...	ORPHA:79394
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey...	ORPHA:2891
Olmsted Syndrome 1	Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa...	OMIM:614594
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Alopecia of scalp, Follicular hyperkeratosis, Generalized ichthyosis, Erythrod...	OMIM:608649
Erythrokeratodermia Variabilis Et Progressiva 6	Abnormal hair morphology, Parakeratosis, Pruritus, Superficial dermal perivascular inflammatory i...	OMIM:618531
Trichodental Dysplasia	Sparse hair, Slow-growing hair, Fine hair, Brittle hair	OMIM:601453
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair	OMIM:601553
Peeling Skin Syndrome 4	Orthokeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Scaling skin, Epidermal aca...	OMIM:607936
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Spotty hyperpigmentation, Pruritus, Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin...	ORPHA:79399
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Lipoid Proteinosis Of Urbach And Wiethe	Reduced epidermal extracellular matrix protein 1 protein expression, Thickened skin, Patchy alope...	OMIM:247100
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Alopecia totalis, Para...	OMIM:300918
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level, Atrophic scars, Nail dystrophy, Abnormal toenail morphology, Sca...	ORPHA:89843
Keratosis, Focal Palmoplantar And Gingival	Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat...	OMIM:148730
Peeling Skin Syndrome 1	Nail dystrophy, Onycholysis, Palmoplantar hyperhidrosis, Erythroderma, Scaling skin, Brittle hair...	OMIM:270300
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Palmoplantar keratoderma, Eczematoid dermatitis, Sparse body hair...	ORPHA:2890
Ectodermal Dysplasia 13, Hair/Tooth Type	Thin eyebrow, Sparse eyelashes, Low anterior hairline, Ectodermal dysplasia, Brittle hair	OMIM:617392
Netherton Syndrome	Sparse eyebrow, Irregular hyperpigmentation, Eczematoid dermatitis, Fine hair, Abnormal hair morp...	ORPHA:634
L-Ferritin Deficiency	Alopecia	OMIM:615604
Classic Mycosis Fungoides	Erythema, Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Skin ulcer, Eczemato...	ORPHA:2584
Erythrokeratodermia Variabilis	Erythema, Alopecia, Irregular hyperpigmentation, Abnormal hair morphology, Dry skin, Patchy palmo...	ORPHA:317
Aredyld	Generalized hypotrichosis	OMIM:207780
Pili Torti, Early-Onset	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co...	OMIM:261900
Clouston Syndrome	Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Nail dystrophy, Sparse eyelash...	OMIM:129500
Moynahan Syndrome	Alopecia, Sparse hair, Hyperkeratosis	ORPHA:2574
Hypertrichosis, Congenital Generalized, 2	Hirsutism, Congenital, generalized hypertrichosis	OMIM:307150
Lamellar Ichthyosis	Dry skin, Ichthyosis, Lack of skin elasticity, Erythroderma, Aplasia/Hypoplasia of the eyebrow, P...	ORPHA:313
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Parc Syndrome	Absent eyelashes, Alopecia, Absent eyebrow	OMIM:600331
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Honeycomb palmoplantar hyperkeratosis, Nail dystrophy, Ichthyosis, Linear arrays of macular hyper...	OMIM:601952
Idiopathic Localized Lipodystrophy	Erythema, Hypopigmentation of the skin, Inflammatory abnormality of the skin, Absence of subcutan...	ORPHA:90158
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Sparse eyebrow, Absent eyebrow, Sparse scalp hair, Sparse eyelashes	OMIM:620199
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Blepharitis, Congenital ichthyosiform erythroderma, Sparse body hair, Curly eyela...	OMIM:602400
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Palmoplantar keratoderma, Eczematoid dermatitis, Sparse body hair, Dry skin, Sparse eyelashes, Hy...	OMIM:618535
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Rothmund-Thomson Syndrome, Type 1	Recurrent otitis media, Nail dystrophy, Absent eyelashes, Absent eyebrow, Thin nail, Sparse hair,...	OMIM:618625
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro...	ORPHA:98813
Schopf-Schulz-Passarge Syndrome	Palmoplantar keratoderma, Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Dry skin, ...	OMIM:224750
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis, Nail dystrophy	OMIM:131850
Sabinas Brittle Hair Syndrome	Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair	OMIM:211390
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Woolly hair, Sparse hair	OMIM:278200
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyebrow, Orthokeratosis, Pruritus, Dry skin, Ichthyosis, Splenomegaly, Sparse ey...	OMIM:607626
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Dry skin, Abnormal...	ORPHA:248
Carvajal Syndrome	Patchy palmoplantar hyperkeratosis, Woolly hair	ORPHA:65282
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Sézary Syndrome	Alopecia, Irregular hyperpigmentation, Palmoplantar keratoderma, Dry skin, Nail dystrophy, Spleno...	ORPHA:3162
Vibratory Urticaria	Facial erythema, Dermatographic urticaria, Flushing, Urticaria	OMIM:125630
Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy	Hypertrichosis	OMIM:620470
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Periodontitis, Sparse body hair, Abnormal eyelash morphology, Sparse scalp ...	ORPHA:1008
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Ulerythema Ophryogenesis	Hyperkeratotic papule, Sparse lateral eyebrow, Dry skin, Facial erythema, Follicular hyperkeratos...	ORPHA:3406
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Dry skin, Leukonychia, Angular cheilitis, Onycholysis, Epidermal acanthosis, Follicular hyperkera...	OMIM:616295
Ectodermal Dysplasia 5, Hair/Nail Type	Dystrophic fingernails, Absent toenail, Sparse scalp hair	OMIM:614927
Palmoplantar Keratoderma And Woolly Hair	Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly...	OMIM:616099
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al...	OMIM:262000
Psoriasis 14, Pustular	Erythema, Psoriasiform dermatitis, Nail dystrophy, Pustule, Parakeratosis, Oligoarthritis, Cholan...	OMIM:614204
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Palmoplantar scaling skin, Nail dystrophy, Sp...	OMIM:605676
Cole Disease	Hyperkeratotic papule, Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Abnormal hair m...	OMIM:615522
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Woolly Hair-Skin Fragility Syndrome	Acantholysis, Woolly hair, Palmoplantar keratoderma	OMIM:620415
Ichthyosis, Congenital, Autosomal Recessive 2	Erythema, Alopecia, Palmoplantar keratoderma, Small nail, Congenital ichthyosiform erythroderma, ...	OMIM:242100
Naxos Disease	Palmoplantar keratoderma, Acanthosis nigricans, Hyperhidrosis, Curly hair, Abnormality of hair te...	ORPHA:34217
Familial Reactive Perforating Collagenosis	Hyperkeratotic papule, Abnormal epidermal morphology, Inflammatory abnormality of the skin, Spott...	ORPHA:79147
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Yellow nails, Palmoplantar keratoderma, Hypergranulosis, Nail dystrophy, Orthokeratotic hyperkera...	OMIM:148700
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Orthokeratosis, Palmoplantar keratoderma, Failure to thrive, Hypergranulosis, Increased circulati...	OMIM:615508
Pityriasis Rubra Pilaris	Thickened skin, Subungual hyperkeratosis, Palmoplantar keratoderma, Eczematoid dermatitis, Ichthy...	ORPHA:2897
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar keratoderma, Fingernail d...	ORPHA:2251
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Cellulitis, Alopecia universalis, Decreased specific anti-polysaccharide antibody level, Eczemato...	OMIM:606367
Centrifugal Lipodystrophy	Erythema, Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Absence of subcutaneous ...	ORPHA:90156
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Follicular hyperkeratosis, Hyperhidrosis, Sparse hair, Congenital bullo...	OMIM:613576
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Abnormal hair morphology,...	OMIM:604117
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Sparse eyebrow, Fine hair, Dry skin, Ridged nail, Sparse eyelashes, Hypohidrosis, Slow-growing ha...	OMIM:129490
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Pili torti, Fine hair, Brittle hair	ORPHA:1573
Kondoh Syndrome	Sparse hair, Atopic dermatitis, Thick eyebrow, Widow's peak	OMIM:606242
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Spotty hyperpigmentation, Erythema migrans, Parakeratosis, Generalized reticulate brown pigmentat...	ORPHA:158681
Hypotrichosis 14	Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes	OMIM:618275
Pruritic Urticarial Papules And Plaques Of Pregnancy	Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Striae distensae, Increased body wei...	ORPHA:64745
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Palmoplantar Keratoderma, Epidermolytic, 2	Palmoplantar hyperkeratosis, Curly hair	OMIM:620411
Vulvovaginal Gingival Syndrome	Erythema, Abnormality of tumor necrosis factor secretion, Ridged nail, Parakeratosis, Epidermal a...	ORPHA:83453
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Alopecia, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chron...	OMIM:618282
Ectodermal Dysplasia-Syndactyly Syndrome 1	Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ...	OMIM:613573
Trichothiodystrophy 1, Photosensitive	Small nail, Dry skin, Telangiectasia, Erythroderma, Brittle hair, Sparse hair, Cutaneous photosen...	OMIM:601675
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Hypotrichosis And Recurrent Skin Vesicles	Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Skin vesic...	OMIM:613102
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis, Congenital nonbu...	OMIM:617571
Progeroid Syndrome, Petty Type	Sparse hair, Abnormal hair morphology, Thick eyebrow, Redundant skin, Reduced subcutaneous adipos...	ORPHA:2963
Palmoplantar Keratoderma, Nagashima Type	Hypergranulosis, Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Palmoplantar hyperker...	OMIM:615598
Keratoderma Hereditarium Mutilans	Alopecia, Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Abnormal toenail morphology, Hyperke...	ORPHA:494
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Erythroderma, Ichthyosis	OMIM:618840
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Abnormal fingernail morphology, Diffuse palmoplantar hyperkeratosis, Palmoplanta...	ORPHA:2199
Hypotrichosis 13	Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes	OMIM:615896
Complex Regional Pain Syndrome	Erythema, Dry skin, Abnormality of hair growth, Slow-growing nails, Edema of the upper limbs, Ped...	ORPHA:83452
Hypotrichosis 9	Sparse eyebrow, Sparse body hair, Abnormal eyelash morphology, Abnormality of the nail, Sparse sc...	OMIM:614237
Keratosis Pilaris Atrophicans	Absent eyelashes, Erythema, Sparse eyebrow	OMIM:604093
Mastocytosis, Cutaneous	Erythema, Telangiectasia macularis eruptiva perstans, Edema, Urticaria	OMIM:154800
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Hidrotic ectodermal dysplasia, Brittle hair, Coarse hair	ORPHA:1883
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Palmoplantar keratoderma, Dry skin, Alopecia of scalp, Nail dystrophy, Scaling skin	OMIM:618373
Flynn-Aird Syndrome	Alopecia, Alopecia of scalp, Hyperkeratosis	OMIM:136300
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Fine hair, Fragile nails	ORPHA:500166
Palmoplantar Carcinoma, Multiple Self-Healing	Palmoplantar keratoderma, Nail dystrophy, Chronic rhinitis, Parakeratosis, Ectodermal dysplasia, ...	OMIM:615225
Ectodermal Dysplasia 9, Hair/Nail Type	Abnormal sweat gland morphology, Atrichia, Abnormal sebaceous gland morphology, Absent hair, Nail...	OMIM:614931
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Porokeratosis, Generalized abnormality of skin, Palmoplantar hyperkeratosi...	ORPHA:737
Kid Syndrome	Trichilemmoma, Posterior blepharitis, Psoriasiform dermatitis, Sparse eyelashes, Follicular hyper...	ORPHA:477
Trichothiodystrophy 5, Nonphotosensitive	Sparse eyebrow, Progeroid facial appearance, Reduced hair sulfur content, Cutis marmorata, Tiger ...	OMIM:300953
Lichen Planopilaris	Alopecia, Skin ulcer, Hepatitis, Abnormal fingernail morphology, Onycholysis, Pruritus, Hyperkera...	ORPHA:525
Acrogeria	Small hand, Irregular hyperpigmentation, Skin ulcer, Fine hair, Prematurely aged appearance, Exce...	ORPHA:2500
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Folliculitis, Keratitis, Nail dystrophy, Spar...	OMIM:612843
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Sacral hypertrichosis, Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri...	OMIM:117850
Verrucous Hemangioma	Hyperkeratotic papule, Epidermal acanthosis, Inflammatory abnormality of the skin	ORPHA:464318
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Generalized hypotrichosis, Sparse eyebrow, Palmoplantar keratoderma, Absent hair, Trichorrhexis n...	ORPHA:1010
Non-Acquired Isolated Growth Hormone Deficiency	Premature skin wrinkling, Genu valgum, Abdominal obesity, Prolonged neonatal jaundice, Sparse hai...	ORPHA:631
Acrokeratosis Verruciformis Of Hopf	Hypergranulosis, Leukonychia, Nail dystrophy, Anonychia, Punctate palmoplantar hyperkeratosis, Ep...	ORPHA:79151
Hidrotic Ectodermal Dysplasia, Halal Type	Supernumerary nipple, Abnormal fingernail morphology, Sparse body hair, Abnormal toenail morpholo...	ORPHA:1809
Porokeratosis 3, Multiple Types	Parakeratosis, Nail dystrophy, Porokeratosis	OMIM:175900
Ichthyosis, Congenital, Autosomal Recessive 6	Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Hypohidrosis, Generalized icht...	OMIM:612281
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Alopecia, Nail pits, Ridged nail, Nail dystrophy	OMIM:601705
Witkop Syndrome	Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,...	OMIM:189500
Odontoonychodermal Dysplasia	Erythema, Dry hair, Sparse body hair, Dry skin, Follicular hyperkeratosis, Thin nail, Epidermal a...	OMIM:257980
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased...	ORPHA:169154
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Eczematoid dermatitis, Sparse body hair, Abnormal fingernail morphology, Hypohidrosis, Sparse hai...	ORPHA:1810
Hypotrichosis 12	Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ...	OMIM:615885
Pseudopelade Of Brocq	Alopecia, Abnormal hair morphology, Recurrent skin infections, Aplasia/Hypoplasia of the eyebrow,...	ORPHA:129
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal...	ORPHA:444
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Palmoplantar hyperkeratosis, Dystrophic toenail, Anhidrosis	OMIM:619209
Aquagenic Palmoplantar Keratoderma	Atopic dermatitis, Abnormal phalangeal joint morphology of the hand, Palmoplantar keratoderma, Or...	ORPHA:498359
Porphyria Cutanea Tarda	Alopecia, Scleroderma, Onycholysis, Facial hypertrichosis	OMIM:176100
Woolly Hair, Autosomal Dominant	Dry hair, Coarse hair, Abnormal eyebrow morphology, Palmoplantar hyperkeratosis, Slow-growing hai...	OMIM:194300
Basan Syndrome	Epidermal acanthosis, Palmoplantar keratoderma, Nail dystrophy, Palmoplantar hypohidrosis	OMIM:129200
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin	OMIM:146590
Dermoodontodysplasia	Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Dry skin, Trichodysplasia, Hypohidrosi...	ORPHA:1660
Psoriasis 2	Psoriasiform dermatitis, Parakeratosis, Scaling skin, Epidermal acanthosis, Hyperkeratosis	OMIM:602723
Schöpf-Schulz-Passarge Syndrome	Alopecia, Sparse hair, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Absent nipple, Absent hair, Dry skin, Brittle hair, Sparse hair, Hypohidrotic ectodermal dysplasia	OMIM:614940
Trichothiodystrophy 6, Nonphotosensitive	Dry skin, Tiger tail banding, Slow-growing hair, Brittle hair, Cutaneous photosensitivity	OMIM:616943
Pachyonychia Congenita 2	Subungual hyperkeratosis, Dry hair, Sparse eyebrow, Folliculitis, Nail dystrophy, Nail dysplasia,...	OMIM:167210
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Tiger tail banding, Ichthyosis, Nail dystrophy, Sparse hair	OMIM:619692
Peeling Skin Syndrome 2	Erythema, Abnormality of the nail, Scaling skin	OMIM:609796
Epidermolysis Bullosa, Junctional 1A, Intermediate	Palmar hyperhidrosis, Nail dystrophy, Patchy alopecia, Plantar hyperkeratosis, Fragile nails	OMIM:226650
Bazex-Dupre-Christol Syndrome	Atopic dermatitis, Coarse hair, Eczematoid dermatitis, Acne inversa, Trichorrhexis nodosa, Pili t...	OMIM:301845
Ectodermal Dysplasia, Trichoodontoonychial Type	Sparse body hair, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelas...	ORPHA:1818
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Psoriasiform lesion, Superficial dermal perivascula...	ORPHA:284426
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyebrow, Coarse hair, Ichthyosis, Sparse eyelashes, Patchy alopecia, Scarring alopecia of ...	ORPHA:35173
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Hypohidrosis, Sp...	ORPHA:1882
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Dystrophic toenail, Telangiectasia, Dystrophic fingernails, Fragile skin, Recurrent los...	ORPHA:158673
Ectodermal Dysplasia-Skin Fragility Syndrome	Alopecia universalis, Cheilitis, Recurrent pneumonia, Palmoplantar keratoderma, Chapped lip, Recu...	ORPHA:158668
Acral Peeling Skin Syndrome	Erythema, Eczematoid dermatitis, Excessive wrinkling of palmar skin, Ichthyosis, Hyperpigmentatio...	ORPHA:263534
Darier Disease	Thickened skin, Palmoplantar keratoderma, Abnormal hair morphology, Subungual hyperkeratotic frag...	ORPHA:218
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Alopecia totalis, Palmoplantar keratoderma, Nail dystrophy, Lack of skin elasticity	ORPHA:1366
Palmoplantar Keratoderma, Norrbotten Recessive Type	Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Orthokeratosis, Sparse lateral eyebrow, Eczematoid dermatitis, Acne inv...	OMIM:617337
Cortisone Reductase Deficiency 1	Alopecia, Acne, Hirsutism	OMIM:604931
Cutaneous Mastocytoma	Thickened skin, Erythema, Telangiectasia macularis eruptiva perstans, Dermatographic urticaria, A...	ORPHA:79455
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Failure to thrive, Increased circulating IgE level, Long eyelashes, Pustule,...	OMIM:616069
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Palmoplantar keratoderma, Ichthyosis, Erythroderma, Conjunctivitis, Sparse hair, Fragil...	OMIM:242150
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Sparse eyebrow, Erysipelas, Sparse eyelashes, Nail dysplasia, Hypohidrosis	OMIM:615704
Idiopathic Trachyonychia	Atopic dermatitis, Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Ichthyos...	ORPHA:79153
Intermediate Generalized Junctional Epidermolysis Bullosa	Palmoplantar keratoderma, Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia	ORPHA:79402
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Hyperkeratosis-Hyperpigmentation Syndrome	Multiple cafe-au-lait spots, Irregular hyperpigmentation, Hyperkeratosis, Cutaneous photosensitivity	ORPHA:1336
Trichohepatoenteric Syndrome 2	Sparse hair, Trichorrhexis nodosa, Uncombable hair, Brittle hair, Woolly hair	OMIM:614602
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis	OMIM:617574
Oliver-Mcfarlane Syndrome	Long eyelashes, Long eyebrows, Alopecia, Sparse hair	OMIM:275400
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Pachyonychia Congenita	Onychogryposis of fingernail, Alopecia, Palmoplantar keratoderma, Onychogryposis of toenails, Fin...	ORPHA:2309
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Cutaneous photosensitivity, Porokeratosis	ORPHA:735
Omenn Syndrome	Pneumonia, Thickened skin, Alopecia, Short toe, Failure to thrive, Dry skin, Splenomegaly, Erythr...	ORPHA:39041
Amelo-Onycho-Hypohidrotic Syndrome	Fine hair, Abnormal fingernail morphology, Dry skin, Hypoplastic toenails, Onycholysis, Hypohidro...	ORPHA:1028
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyebrow, Folliculitis, Palmoplantar keratoderma, Keratitis, Dry skin, Nail dystrophy, Spar...	OMIM:308800
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ...	OMIM:613000
Erythrokeratodermia Variabilis Et Progressiva 3	Erythema, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Leukonychia, Epidermal acant...	OMIM:617525
Trichothiodystrophy 4, Nonphotosensitive	Small nail, Trichorrhexis nodosa, Concave nail, Nail dystrophy, Sparse eyelashes, Nail dysplasia,...	OMIM:234050
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Parakeratosis, Erythroderma, Epider...	OMIM:604777
Peeling Skin Syndrome 5	Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:617115
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair, Thin skin	ORPHA:2985
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Trichodysplasia, Alopecia of scalp	ORPHA:79129
Epidermolytic Hyperkeratosis 1	Palmoplantar hyperkeratosis, Erythroderma, Scaling skin, Epidermal acanthosis, Congenital bullous...	OMIM:113800
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Eczematoid dermatitis, Breast aplasia, Trichorrhexis nodosa...	ORPHA:238468
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Epidermal acanthosis, Hyperkeratosis	OMIM:615028
Peeling Skin Syndrome 6	Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus	OMIM:618084
Angioma Serpiginosum	Erythema, Vascular skin abnormality	ORPHA:95429
Acral Self-Healing Collodion Baby	Erythema, Palmoplantar scaling skin, Lack of skin elasticity, Edema of the dorsum of hands, Edema...	ORPHA:281127
Choroidal Atrophy-Alopecia Syndrome	Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T...	ORPHA:1433
Cardiofaciocutaneous Syndrome 3	Webbed neck, Hyperkeratosis, Hyperhidrosis, Curly hair	OMIM:615279
Hypotrichosis 5	Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs...	OMIM:612841
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Cellulitis, Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circ...	OMIM:618944
Hypodontia-Dysplasia Of Nails Syndrome	Ridged fingernail, Thin toenail, Fine hair, Hypoplastic fingernail, Abnormal fingernail morpholog...	ORPHA:2228
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Hypoplastic to...	ORPHA:2325
Hereditary Mucoepithelial Dysplasia	Alopecia, Sparse hair, Hyperkeratosis, Fine hair	ORPHA:1839
Trichothiodystrophy 2, Photosensitive	Congenital nonbullous ichthyosiform erythroderma, Tiger tail banding, Coarse hair, Ichthyosis	OMIM:616390
Nicolaides-Baraitser Syndrome	Highly arched eyebrow, Alopecia, Clubbing of toes, Broad distal phalanx of finger, Sandal gap, Ec...	ORPHA:3051
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Woolly hair, Palmoplantar keratoderma	OMIM:611528
Alopecia-Intellectual Disability Syndrome	Alopecia, Sparse body hair, Ichthyosis, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair	ORPHA:2850
Ichthyosis, Congenital, Autosomal Recessive 10	Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Erythroderma, Generaliz...	OMIM:615024
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Plantar hype...	OMIM:144200
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant...	OMIM:620150
Immunodeficiency 58	Allergic rhinitis, Cold urticaria, Molluscum contagiosum, Psoriasiform lesion, Esophagitis, Cutan...	OMIM:618131
Leopard Syndrome 3	Webbed neck, Dry skin, Low posterior hairline, Curly hair, Hyperkeratosis, Epidermal hyperkeratosis	OMIM:613707
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Cellulitis, Skin ulcer, Eczematoid dermatitis, Generalized abnormality of skin, Abnormal hair mor...	ORPHA:2314
Mal De Meleda	Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Ichthyosis, Superficial...	ORPHA:87503
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Erythema, Alopecia, Thickened skin, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail mor...	ORPHA:659
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Palmoplantar keratoderma, Abnormal fingernail morphology, Focal frictio...	ORPHA:2200
Cutaneous Collagenous Vasculopathy	Erythema, Bruising susceptibility, Vascular skin abnormality, Petechiae, Diffuse telangiectasia, ...	ORPHA:280779
Orthostatic Hypotensive Disorder, Streeten Type	Facial erythema, Bruising susceptibility	OMIM:143850
Autosomal Dominant Epidermolytic Ichthyosis	Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Cutaneous photosensitivity, Weight loss, Erythr...	ORPHA:312
Syndromic X-Linked Intellectual Disability 7	Sparse body hair	ORPHA:85274
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Infantile Digital Fibromatosis	Parakeratosis, Epidermal acanthosis, Hyperkeratosis	ORPHA:199267
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Facial edema, Erythema, Angioedema, Tongue edema, Laryngeal edema, Palpebral edema, Pharyngeal edema	ORPHA:100057
Diffuse Cutaneous Mastocytosis	Thickened skin, Dermatographic urticaria, Generalized abnormality of skin, Abnormality of the spl...	ORPHA:79456
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Alopecia totalis, Anonychia, Acantholysis, Absent fingernail	OMIM:609638
Prolidase Deficiency	Erythema, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail morphology, Dry skin, Genu va...	ORPHA:742
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Long eyelashes, Alopecia, Sparse hair	ORPHA:3363
Erythrokeratodermia Variabilis Et Progressiva 1	Hypergranulosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Ep...	OMIM:133200
Congenital Disorder Of Glycosylation, Type Iq	Eczematoid dermatitis, Hypertrichosis, Dry skin, Ichthyosis, Cutis laxa, Hyperkeratosis	OMIM:612379
Menkes Disease	Sparse hair, Alopecia, Cutis laxa, Brittle hair	OMIM:309400
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Alopecia, Recurrent pneumonia, Recurrent sinusitis, Pyoderma gangrenosum, Rec...	OMIM:616576
Focal Facial Dermal Dysplasia Type I	Sparse lateral eyebrow, Low anterior hairline, Absent eyelashes, Distichiasis, Sparse hair	ORPHA:79133
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis, Reticular hyperpigmentation, Hypomelanotic macule	OMIM:615327
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Erythema, Small nail, Finger syndactyly, Parakeratosis, Epidermal acanthosis, 2-5 finger syndacty...	OMIM:308050
Bazex-Dupré-Christol Syndrome	Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse...	ORPHA:113
Ectodermal Dysplasia-Blindness Syndrome	Skin ulcer, Fine hair, Abnormal fingernail morphology, Hypohidrosis, Keratoconjunctivitis sicca, ...	ORPHA:1806
Acrokeratosis Verruciformis	Ridged nail, Acrokeratosis, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis, Acantholy...	OMIM:101900
Focal Facial Dermal Dysplasia 3, Setleis Type	Distichiasis, Sparse hair, Absent lower eyelashes, Low anterior hairline	OMIM:227260
Neonatal Inflammatory Skin And Bowel Disease	Erythema, Horizontal eyebrow, Chapped lip, Chronic monilial nail infection, Psoriasiform dermatit...	ORPHA:294023
Porphyria Cutanea Tarda	Hypopigmentation of the skin, Poor wound healing, Cutaneous abscess, Hypertrichosis, Corneal scar...	ORPHA:101330
Copper Deficiency, Familial Benign	Seborrheic dermatitis, Early balding, Curly hair	OMIM:121270
Noonan Syndrome 8	Webbed neck, Eczematoid dermatitis, Failure to thrive, Large for gestational age, Cryptorchidism,...	OMIM:615355
X-Linked Agammaglobulinemia	Cellulitis, Alopecia, Recurrent pneumonia, Skin ulcer, Hypopigmented skin patches, Failure to thr...	ORPHA:47
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development	Alopecia, Ichthyosis	OMIM:242510
Inflammatory Skin And Bowel Disease, Neonatal, 1	Paronychia, Blepharitis, Perioral erythema, Failure to thrive, Increased circulating IgE level, P...	OMIM:614328
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eczematoid dermatitis, Failure to thrive, Hepatitis, Increased circulating IgE level, E...	OMIM:304790
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Molluscum contagiosum, Hepatospleno...	OMIM:618982
Chilblain Lupus	Discoid lupus rash, Finger swelling, Inflammatory abnormality of the skin, Skin ulcer, Cutis marm...	ORPHA:90280
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Sparse eyebrow, Inflammatory abnormality of the skin, Dry skin, Ichthyosis, Sparse eyel...	OMIM:610768
Naxos Disease	Subungual hyperkeratosis, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Nail dystro...	OMIM:601214
Lelis Syndrome	Yellow nails, Sparse lateral eyebrow, Nail dystrophy, Abnormal toenail morphology, Hypohidrosis, ...	ORPHA:140936
Trichothiodystrophy 8, Nonphotosensitive	Sparse hair, Sparse eyebrow, Eczematoid dermatitis, Trichorrhexis nodosa, Cutis laxa, Woolly hair	OMIM:619691
Ichthyosis, Congenital, Autosomal Recessive 7	Palmoplantar keratoderma, Hypergranulosis, Ichthyosis, Erythroderma, Epidermal acanthosis	OMIM:615022
Pemphigus Foliaceus	Erythema, Psoriasiform dermatitis, Crusting erythematous dermatitis, Skin vesicle, Pustule, Eryth...	ORPHA:79481
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Nail dystrophy, Brittle hair	ORPHA:75389
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Atrophoderma Vermiculata	Hyperkeratotic papule, Abnormal epidermal morphology, Erythema, Atrophic scars, Follicular hyperk...	ORPHA:79100
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Inflammatory abnormality of the skin, Recurrent pneumonia, Absen...	ORPHA:277
Cutaneous Photosensitivity And Colitis, Lethal	Erythema, Early cutaneous photosensitivity	OMIM:219095
Jessner Lymphocytic Infiltration Of The Skin	Erythema, Cutaneous photosensitivity	ORPHA:33314
Acquired Hypertrichosis Lanuginosa	Thickened skin, Fine hair, Abnormal eyebrow morphology, Ichthyosis, Generalized hirsutism, Acanth...	ORPHA:2221
Rhizomelic Chondrodysplasia Punctata	Dry skin, Alopecia, Ichthyosis, Sparse body hair	ORPHA:177
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Sparse eyebrow, Dry hair, Sparse eyelashes, Nail dysplasia, Ectodermal dysplasia, Pili torti, Bri...	OMIM:225060
Dowling-Degos Disease 4	Epidermal acanthosis, Pruritus, Hypergranulosis	OMIM:615696
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hypergranulosis, Hypohidrosis, Erythroderma, Epidermal acanthosis, Hyperkeratosis...	OMIM:615023
Fibrodysplasia Ossificans Progressiva	Alopecia	ORPHA:337
Ramon Syndrome	Generalized hirsutism, Hyperkeratosis	ORPHA:3019
Dermoodontodysplasia	Nail dysplasia, Trichodysplasia, Dry skin, Thin skin	OMIM:125640
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Recon Progeroid Syndrome	Progeroid facial appearance, Dry skin, Hyperconvex thumb nails, Long thumb, Cutaneous photosensit...	OMIM:620370
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Failure...	OMIM:617241
Nicolaides-Baraitser Syndrome	Dry hair, Broad 2nd toe, Cryptorchidism, Excessive wrinkled skin, Low posterior hairline, Absent ...	OMIM:601358
Palmoplantar Keratoderma, Punctate Type Iii	Acrokeratosis, Hyperkeratosis	OMIM:101850
Dermatoleukodystrophy	Thickened skin, Hyperkeratosis	ORPHA:1659
Progressive Symmetric Erythrokeratodermia	Erythema	ORPHA:316
Chromomycosis	Hyperkeratotic papule, Atypical scarring of skin, Keratitis, Hypopigmented skin patches, Vascular...	ORPHA:182
Ichthyosis, Annular Epidermolytic, 2	Erythema, Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Palmoplantar hyperkeratosis, Scal...	OMIM:620148
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis	OMIM:173200
Erythrokeratodermia Variabilis Et Progressiva 4	Erythema, Palmoplantar hyperkeratosis, Epidermal acanthosis, Hyperkeratosis, Congenital nonbullou...	OMIM:617526
Lipoid Proteinosis	Acne, Thickened skin, Alopecia of scalp, Pustule, Hyperkeratosis	ORPHA:530
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Dry skin, Ichthyosis, Inguinal hernia, Scaling skin, Joint contracture, Hyperkeratosis,...	OMIM:614457
Systemic Lupus Erythematosus 17	Optic neuritis, Alopecia, Malar rash, Myelitis	OMIM:301080
Neonatal Lupus Erythematosus	Malar rash, Skin rash, Cutaneous photosensitivity, Splenomegaly, Parakeratosis, Maculopapular exa...	ORPHA:398124
Cutis Laxa, Autosomal Recessive, Type Iia	Coarse hair, Redundant skin, Excessive wrinkled skin, Cutis laxa, Brittle hair, Abnormality of ha...	OMIM:219200
Uncombable Hair Syndrome 1	Dry hair, Pili canaliculi, Uncombable hair	OMIM:191480
Ectodermal Dysplasia/Short Stature Syndrome	Palmoplantar keratoderma, Nail dystrophy, Anonychia, Epidermal acanthosis, Hyperkeratosis	OMIM:616029
Cardiofaciocutaneous Syndrome 2	Sparse hair, Absent eyebrow, Fine hair, Curly hair	OMIM:615278
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Curly hair, Patchy hypopig...	ORPHA:79414
Dermatoleukodystrophy	Thickened skin, Progeroid facial appearance, Large hands, Premature skin wrinkling	OMIM:221790
Acquired Ichthyosis	Erythema, Palmoplantar keratoderma, Dry skin, Ichthyosis, Pruritus, Recurrent skin infections, Hy...	ORPHA:454
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
Alopecia Totalis	Inflammation of the large intestine, Alopecia totalis, Alopecia of scalp, Onycholysis, Trachyonyc...	ORPHA:700
Pemphigus Vulgaris	Acantholysis, Alopecia of scalp, Recurrent cutaneous abscess formation	ORPHA:704
Alopecia Universalis	Alopecia universalis, Atopic dermatitis, Psoriasiform dermatitis, Absent eyelashes, Patchy alopec...	ORPHA:701
Congenital Disorder Of Glycosylation, Type If	Failure to thrive, Dry skin, Erythroderma, Scaling skin, Flexion contracture, Hyperkeratosis	OMIM:609180
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis, Abnormality of skin pigmentation	ORPHA:315
Keratolytic Winter Erythema	Erythema	OMIM:148370
Mal De Meleda	Perioral erythema, Fragile nails	OMIM:248300
Panniculitis-Induced Localized Lipodystrophy	Erythema, Reduced subcutaneous adipose tissue, Vasculitis in the skin	ORPHA:90159
Erythema Of Acral Regions	Erythema	OMIM:227000
Elastoderma	Eczematoid dermatitis, Cutis laxa, Erysipelas, Premature skin wrinkling	ORPHA:228240
Dermatopathia Pigmentosa Reticularis	Palmoplantar hyperkeratosis, Hypohidrosis, Alopecia of scalp, Nail dystrophy	OMIM:125595
Acute Generalized Exanthematous Pustulosis	Cheilitis, Predominantly dermal neutrophilic infiltrate, Pustule, Skin vesicle, Eosinophilic derm...	ORPHA:293173
Aicardi-Goutieres Syndrome 5	Increased circulating interferon-gamma concentration, Dry skin, Chilblains, Scaling skin, Flexion...	OMIM:612952
Erythema Palmare Hereditarium	Erythema	OMIM:133000
Hailey-Hailey Disease	Erythema	OMIM:169600
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema	Erythema migrans	OMIM:609352
Annular Erythema	Erythema	OMIM:106500
Erythema Nodosum, Familial	Erythema	OMIM:132990
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Alopecia Antibody Deficiency	Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse body hair	ORPHA:1006
Microcephalic Primordial Dwarfism, Montreal Type	Premature graying of hair, Dry skin, Alopecia of scalp, Cryptorchidism, Low posterior hairline, A...	ORPHA:2617
Rapp-Hodgkin Syndrome	Sparse hair, Sparse eyebrow, Thin skin, Palmoplantar keratoderma, Small nail, Decreased number of...	OMIM:129400
Brachycephaly, Trichomegaly, And Developmental Delay	Highly arched eyebrow, Long eyelashes, Thick eyebrow, Brittle hair, Synophrys	OMIM:617412
Proteus Syndrome	Cerebriform connective tissue nevus, Lymphangioma, Splenomegaly, Multiple lipomas, Lipoma, Epider...	OMIM:176920
Ifap Syndrome 2	Ichthyosis follicularis, Atrichia, Posterior blepharitis, Keratitis, Perioral erythema, Nail dyst...	OMIM:619016
Cutaneous Small Vessel Vasculitis	Erythema, Cutis marmorata, Purpura, Urticaria	ORPHA:889
Trichothiodystrophy 3, Photosensitive	Trichorrhexis nodosa, Tiger tail banding, Cutaneous photosensitivity, Brittle hair	OMIM:616395
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Pressure-Induced Localized Lipoatrophy	Erythema, Reduced subcutaneous adipose tissue	ORPHA:90160
Xq27.3Q28 Duplication Syndrome	Sparse body hair	ORPHA:261483
Heyn-Sproul-Jackson Syndrome	Sparse hair	OMIM:618724
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Recurrent tonsillitis, Melanin pigment aggregatio...	OMIM:214450
Porphyria Cutanea Tarda, Type I	Eczematoid dermatitis, Hypertrichosis	OMIM:176090
White Sponge Nevus 2	Epidermal acanthosis, Hyperparakeratosis	OMIM:615785
Chronic Actinic Dermatitis	Allergic rhinitis, Eczematoid dermatitis, Hypopigmented skin patches, Progressive hyperpigmentati...	ORPHA:330064
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia, Recurrent otitis media, Hepatosplenomegaly, Follicular hyperplasia, Splenomegaly, Incre...	OMIM:615559
Dowling-Degos Disease	Hyperkeratotic papule, Inguinal freckling, Acne inversa, Hypermelanotic macule, Generalized abnor...	ORPHA:79145
X-Linked Hypohidrotic Ectodermal Dysplasia	Aplasia/Hypoplasia of the eyebrow, Sparse hair, Hypohidrosis, Sparse body hair	ORPHA:181
Sting-Associated Vasculopathy, Infantile-Onset	Erythema, Pustular rash, Failure to thrive, Cutis marmorata, Malar rash, Nail dystrophy, Skin ras...	OMIM:615934
Hydroa Vacciniforme	Erythema, Telangiectasia of the skin, Cutaneous photosensitivity, Hydroa vacciniforme	ORPHA:330058
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Alopecia	OMIM:203550
Diffuse Palmoplantar Keratoderma, Bothnian Type	Erythema, Skin ulcer	ORPHA:2337
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Psoriasiform lesion, Erythema nodosu...	OMIM:614700
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Dry skin, Ichthyosis, Parakeratosis, Acanthosis nigricans, Epidermal acanthosis, Hyperkeratosis	OMIM:618527
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Coarse hair, Eczematoid dermatitis, Failure to thrive, Pancreatic hypoplasia, Ove...	ORPHA:83617
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Trichiasis, Sparse eyebrow, Keratitis, Nail dystrophy, Ichthyosis, Sparse eyelashes, Nail dysplas...	OMIM:148210
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Failure to thrive, Panhypogammaglobulinemia, Increased circulating IgE level, Lymph no...	OMIM:602450
Focal Facial Dermal Dysplasia Type Iii	Highly arched eyebrow, Sparse lateral eyebrow, Hypopigmented skin patches, Prematurely aged appea...	ORPHA:1807
Drug-Induced Localized Lipodystrophy	Erythema, Reduced subcutaneous adipose tissue	ORPHA:90157
Papillon-Lefèvre Syndrome	Palmoplantar keratoderma, Periodontitis, Hypertrichosis, Abnormal fingernail morphology, Sparse b...	ORPHA:678
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Polyhydramnios, Sparse eyebrow, Brittle hair	OMIM:618810
Epidermolysis Bullosa Acquisita	Atypical scarring of skin, Inflammation of the large intestine, Abnormal hair morphology, Nail dy...	ORPHA:46487
Acute Radiation Syndrome	Hypopigmentation of the skin, Inflammatory abnormality of the skin, Skin ulcer, Interstitial pneu...	ORPHA:454831
Cardiofaciocutaneous Syndrome 4	Alopecia of scalp, Sparse eyelashes, Absent eyebrow, Palmoplantar hyperkeratosis, Hyperhidrosis, ...	OMIM:615280
Maculopapular Cutaneous Mastocytosis	Erythema, Dermatographic urticaria, Generalized abnormality of skin, Darier's sign, Flushing	ORPHA:79457
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Eczematoid dermatitis	OMIM:617443
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Sparse eyebrow, Absent nipple, Periorbital wrinkles, Sparse body hair, Fine hair, Dry skin, Conca...	OMIM:305100
Ataxia-Telangiectasia	Aplasia/Hypoplasia of the thymus, Failure to thrive, Premature graying of hair, Prematurely aged ...	ORPHA:100
Cardiofaciocutaneous Syndrome	Dry skin, Genu valgum, Cryptorchidism, Excessive wrinkled skin, Low posterior hairline, Brittle h...	ORPHA:1340
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Facial telangiectasia in butterfly midface distribution, Alopecia, Reduced subcutaneous adipose t...	OMIM:137940
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse eyebrow, Sparse body hair, Ichthyosis, Sparse eyelashes, Scarring alopecia of scalp, Acant...	ORPHA:59303
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Abnormality of carpal bone ossification, Progeroid facial appearance, Failure to thrive, Generali...	OMIM:608154
Incontinentia Pigmenti	Erythema, Supernumerary nipple, Sparse hair, Hyperkeratosis, Onychogryposis, Alopecia, Breast apl...	OMIM:308300
Pachydermoperiostosis	Thickened skin, Palmoplantar keratoderma, Eczematoid dermatitis, Abnormal fingernail morphology, ...	ORPHA:2796
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Tooth Agenesis, Selective, 4	Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Sparse body hair, Dry skin, Dystrophic fin...	OMIM:150400
Craniofaciofrontodigital Syndrome	Hypertrichosis, Premature skin wrinkling, Large for gestational age, Low anterior hairline, Herni...	ORPHA:363705
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu...	OMIM:617638
Tricho-Retino-Dento-Digital Syndrome	Sparse hair, Uncombable hair	ORPHA:1264
Alpha-Heavy Chain Disease	Alopecia	ORPHA:100025
Mandibuloacral Dysplasia	Alopecia, Increased subcutaneous truncal adipose tissue, Contractures of the large joints, Increa...	ORPHA:2457
Huriez Syndrome	Epidermal acanthosis, Nail dystrophy, Small nail, Congenital palmoplantar hyperkeratosis	OMIM:181600
Cronkhite-Canada Syndrome	Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Generalized hyper...	ORPHA:2930
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Alopecia, Coarse hair, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Chronic...	OMIM:158310
Gand Syndrome	Sparse hair	OMIM:615074
Leopard Syndrome 2	Webbed neck, Dry skin, Curly hair	OMIM:611554
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Progeroid facial appearance, Decreased adipose tissue around neck, Prominent superficia...	OMIM:608612
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Onychogryposis	OMIM:167200
Fg Syndrome 3	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:300406
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Hyperkeratotic papule, Atypical scarring of skin, Keloids, Small nail, Abnormal fingernail morpho...	ORPHA:79410
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Failure to thrive, Fasciitis, Acute hepatitis, H...	ORPHA:39812
Transgrediens Et Progrediens Palmoplantar Keratoderma	Thickened skin, Dystrophic toenail, Diffuse palmoplantar hyperkeratosis, Dystrophic fingernails, ...	ORPHA:495
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Failure to thrive, Decreased cir...	OMIM:300400
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Erythema, Alopecia, Hypopigmentation of the skin, Palmoplantar keratoderma, Failure to thrive, Ge...	ORPHA:79396
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Lethal Acantholytic Erosive Disorder	Congenital alopecia totalis, Absent hair, Absent toenail, Absent eyelashes, Absent eyebrow, Acant...	ORPHA:158687
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Hypotrichosis 3	Abnormal sweat gland morphology, Abnormality of the nail, Abnormal eyelash morphology, Sparse sca...	OMIM:613981
Jaberi-Elahi Syndrome	Sparse eyebrow, Fine hair, Sparse eyelashes, Brittle hair, Sparse hair	OMIM:617988
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Sparse scalp hair, Fine hair	ORPHA:2324
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Thickened skin, Palmoplantar keratoderma, Premature graying of hair, Abnormal hair morphology, Re...	ORPHA:1979
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Ichthyosis	OMIM:215100
Zinc Deficiency, Transient Neonatal	Alopecia, Eczematoid dermatitis	OMIM:608118
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Hypopigmentation of the skin, Failure to thrive, Aplasia/Hypoplasia of the eyebrow, Sparse hair, ...	ORPHA:261304
Omenn Syndrome	Pneumonia, Thickened skin, Alopecia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, E...	OMIM:603554
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Nail dystrophy, Brittle hair	ORPHA:93947
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Parakeratosis, Hyperkeratosis	OMIM:618339
Lichen Planus Pemphigoides	Abnormality of the nail, Skin vesicle, Conjunctivitis, Pruritus, Hyperkeratosis, Blepharitis	ORPHA:254478
Amaurosis-Hypertrichosis Syndrome	Abnormal eyelash morphology, Coarse hair, Thick eyebrow, Synophrys	ORPHA:1021
Adult Syndrome	Alopecia, Toenail dysplasia, Absent nipple, Skin ulcer, Fine hair, Breast hypoplasia, Fingernail ...	ORPHA:978
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Alopecia, Atrichia, Short finger, Decreased testicular size, Nail dystrophy, Cryptorch...	ORPHA:1867
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Inflammation of the large intestine, Failure to thrive, Increase...	OMIM:615767
Weaver Syndrome	Fine hair, Abnormal fingernail morphology, Redundant skin, Hypoplastic toenails, Thin nail, Deep-...	ORPHA:3447
Sjögren-Larsson Syndrome	Erythema, Abnormal dental enamel morphology, Dry skin, Generalized hyperpigmentation, Ichthyosis,...	ORPHA:816
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Lymphadenopathy, Deep dermatophytosis, Chronic oral candidiasis	OMIM:212050
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Long eyelashes, Fine hair, Hyperhidrosis, High anterior hairline	ORPHA:231137
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Joint contracture of the hand, Bronchiectasis, Keratitis, Eczematoid dermatitis, Increased circul...	OMIM:618523
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Alopecia, Absent eyelashes, Absent eyebrow, Abnormality of the n...	OMIM:607823
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Ichthyosis, Abnormal toenail morphology, Hypohidrosis, Sparse hair, Hyperkeratosis	ORPHA:1005
Trichodermodysplasia-Dental Alterations Syndrome	Sparse lateral eyebrow, Fine hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,...	ORPHA:3353
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Atopic dermatitis, Skin ulcer, Increased circulating IgE level, ...	OMIM:620603
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Cutis marmorata, Brittle hair	OMIM:236200
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Increased circulating interleukin 8 concentration, Bronchiectasis, Failure t...	OMIM:301220
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Nail dystrophy, Dyst...	ORPHA:3253
Myoclonic-Astatic Epilepsy	Premature skin wrinkling, Frontal balding, Syndactyly	ORPHA:1942
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Pruritus, Scaling skin	OMIM:105250
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Dry skin, Cryptorchidism, Neonatal death, Absent eyelashes, Ectodermal dysplasia, Absent eyebrow,...	OMIM:308205
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Sparse lateral eyebrow, Fine hair, Epidermal hyperkeratosis	OMIM:190351
Geroderma Osteodysplasticum	Periodontitis, Progeroid facial appearance, Premature skin wrinkling, Abnormal hair morphology, F...	OMIM:231070
Keratolytic Winter Erythema	Erythema	ORPHA:50943
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Congenital Lethal Erythroderma	Failure to thrive, Dry skin, Congenital exfoliative erythroderma, Ichthyosis, Urticaria	ORPHA:1954
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent nipple, Sparse lateral eyebrow, Periorbital wrinkles, Sparse body hair, Dry skin, Sparse e...	OMIM:614941
Elastosis Perforans Serpiginosa	Crusting erythematous dermatitis, Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa	ORPHA:79148
Odontotrichoungual-Digital-Palmar Syndrome	Abnormality of hair texture, Nail dysplasia, Nail dystrophy	OMIM:601957
Linear Verrucous Nevus Syndrome	Hyperkeratosis, Sparse scalp hair	ORPHA:2611
Costello Syndrome	Abnormal hair morphology, Abnormal fingernail morphology, Redundant skin, Hypoplastic toenails, L...	ORPHA:3071
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Skin ulcer, Increased circulating IgE level, Recurrent sinusitis, C...	ORPHA:217390
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse eyebrow, Atypical scarring of skin, Progeroid facial appearance, Testicular torsion, Atrop...	ORPHA:75496
Self-Improving Dystrophic Epidermolysis Bullosa	Generalized abnormality of skin, Atrophic scars, Nail dystrophy, Anonychia, Fragile skin, Abnorma...	ORPHA:79411
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Short Syndrome	Radial deviation of finger, Clinodactyly, Premature skin wrinkling, Absence of subcutaneous fat, ...	OMIM:269880
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Palmoplantar hyperkeratosis, Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma	ORPHA:2698
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Predominantly lower limb lymphedema, Alopecia, Palmar telangiectasia, Sparse body hair, Ascites, ...	ORPHA:69735
Pituitary Adenoma 4, Acth-Secreting	Poor wound healing, Bruising susceptibility, Striae distensae, Ecchymosis, Hirsutism, Facial eryt...	OMIM:219090
Congenital Short Bowel Syndrome	Sparse hair	ORPHA:2301
Hoyeraal-Hreidarsson Syndrome	Bone marrow hypocellularity, Generalized hypopigmentation of hair, Failure to thrive, Premature g...	ORPHA:3322
Familial Cold Autoinflammatory Syndrome 3	Erythema, Dermatographic urticaria, Cold urticaria, Angioedema	OMIM:614468
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Sparse hair	OMIM:273390
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema, Sparse hair, Coarse hair	OMIM:118650
Trichothiodystrophy	Dry skin, Cryptorchidism, Brittle hair, Split nail, Cutaneous photosensitivity, Clubbing, Eczemat...	ORPHA:33364
Lmna-Related Cardiocutaneous Progeria Syndrome	Alopecia universalis, Premature graying of hair, Premature skin wrinkling, Scleroderma, Absent ey...	ORPHA:363618
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Atopic dermatitis, Recurrent pneumonia, Cutaneous abscess, Chron...	OMIM:619752
Poikiloderma With Neutropenia	Sparse eyebrow, Recurrent pneumonia, Palmoplantar keratoderma, Sparse lateral eyebrow, Recurrent ...	OMIM:604173
Sulfite Oxidase Deficiency, Isolated	Eczematoid dermatitis, Fine hair	OMIM:272300
Epidermolysis Bullosa, Junctional 5A, Intermediate	Alopecia of scalp, Nail dystrophy, Onychogryposis, Absent pubic hair, Absent axillary hair, Onych...	OMIM:619816
Hydrocephalus-Obesity-Hypogonadism Syndrome	Low posterior hairline, Absent facial hair, Sparse facial hair	ORPHA:2183
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyebrow, Rhizomelia, Congenital ichthyosiform erythroderma, Failure to thrive, Hemiatrophy...	OMIM:302960
Lipodystrophy, Familial Partial, Type 7	Pigmentary retinopathy, Progeroid facial appearance, Failure to thrive, Facial wrinkling, Dry ski...	OMIM:606721
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Dry skin, Acanthosis nigricans, Sparse hair	OMIM:268020
Eem Syndrome	Absent eyebrow, Sparse scalp hair, Sparse body hair	ORPHA:1897
Stuve-Wiedemann Syndrome 1	Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Diaphyseal undertubulation, Spars...	OMIM:601559
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce...	OMIM:243700
Craniofrontonasal Dysplasia	Ridged fingernail, Low posterior hairline, Abnormality of hair texture, Woolly hair, Widow's peak	ORPHA:1520
Werner Syndrome	Small hand, Subcutaneous calcification, Premature graying of hair, Slender build, White forelock,...	ORPHA:902
Ige Responsiveness, Atopic	Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis	OMIM:147050
Immunodeficiency 25	Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif...	OMIM:610163
Pachyonychia Congenita 3	Palmoplantar keratoderma, Chapped lip, Onychogryposis of toenails, Nail dystrophy, Follicular hyp...	OMIM:615726
Acrodermatitis Enteropathica	Erythema, Alopecia, Ridged fingernail, Blepharitis, Skin ulcer, Abnormal eyebrow morphology, Ridg...	ORPHA:37
Incontinentia Pigmenti	Erythema, Finger syndactyly, Hypopigmented skin patches, Supernumerary nipple, Abnormal hair morp...	ORPHA:464
Acquired Partial Lipodystrophy	Generalized hirsutism, Decreased circulating complement C3 concentration, Lipoatrophy, Progeroid ...	ORPHA:79087
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Bruising susceptibility, Dorsocervical fat pad, Adrenal hyperplasia, Hirsutism, Increas...	OMIM:615830
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Holocarboxylase Synthetase Deficiency	Perioral eczema, Alopecia, Eczematoid dermatitis, Keratoconjunctivitis	ORPHA:79242
Chand Syndrome	Nail dysplasia, Curly hair	OMIM:214350
Granulomatous Slack Skin	Erythema, Cutis laxa, Redundant skin	ORPHA:33111
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Small pituitary gland, Alopecia, Melanocytic nevus, Reduced subcutaneous adipose tissue, Ulnar de...	OMIM:612079
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Alopecia, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Onycholysis	OMIM:614564
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Psoriasiform lesion, Malar rash, Cutaneous photosensitivity, Vasculitis in th...	ORPHA:163525
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Highly arched eyebrow, Sparse pubic hair, Sparse eyebrow, Bifid distal phalanx ...	OMIM:618419
Cog7-Cdg	Failure to thrive, Hepatosplenomegaly, Excessive wrinkled skin, Adducted thumb, Long fingers, Abn...	ORPHA:79333
Alg8-Cdg	Failure to thrive, Abnormality of subcutaneous fat tissue, Premature skin wrinkling, Talipes equi...	ORPHA:79325
Intellectual Developmental Disorder, Autosomal Recessive 5	Eczematoid dermatitis, Sparse hair, Thick eyebrow, Synophrys	OMIM:611091
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	High anterior hairline, Dry hair, Coarse hair, Palmoplantar keratoderma, Nail dystrophy, Ichthyos...	OMIM:620519
Autosomal Erythropoietic Protoporphyria	Erythema, Cutaneous photosensitivity, Edema	ORPHA:79278
Vulto-Van Silfhout-De Vries Syndrome	Horizontal eyebrow, Widow's peak, Fine hair	OMIM:615828
Oculocerebrocutaneous Syndrome	Alopecia	OMIM:164180
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse eyebrow, Periorbital wrinkles, Sparse eyelashes, Hypohidrosis, Anhidrosis, Sparse hair	OMIM:224900
Cutis Laxa, Autosomal Recessive, Type Iiib	Fine hair, Elbow flexion contracture, Inguinal hernia, Excessive wrinkled skin, Cryptorchidism, C...	OMIM:614438
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Failure to thrive, Nai...	OMIM:615895
H Syndrome	Alopecia, Hypertrichosis, Abnormal eyebrow morphology, Hepatosplenomegaly, Psoriasiform dermatiti...	ORPHA:168569
Giant Axonal Neuropathy	Woolly hair, Pili canaliculi	ORPHA:643
Chanarin-Dorfman Syndrome	Alopecia, Congenital nonbullous ichthyosiform erythroderma	OMIM:275630
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Long eyelashes, Thick eyebrow, Hirsutism, Low anterior hairline, Sparse hair	OMIM:616819
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Bruising susceptibility, Abnormality of tumor ...	ORPHA:540
Sydenham Chorea	Erythema	ORPHA:306731
Pgm3-Cdg	Allergic rhinitis, Increased circulating IgE level, Esophagitis, Increased circulating IgA level,...	ORPHA:443811
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Failure to thrive, Decreased response to growth hormone stimulation...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Failure to thrive, Decreased response to growth hormone stimulation...	ORPHA:71526
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Thickened skin, Skin ulcer, Erysipelas, Abnormal hair morphology, Dry skin, Leukonychia, Abnormal...	ORPHA:2526
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse eyebrow, Sparse hair	OMIM:619989
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, 2-4 toe syndactyly, Hyperparakeratosis, Abnormality of the lymphatic system, Multip...	ORPHA:276280
Noonan Syndrome 5	Webbed neck, Sparse eyebrow, Small nail, Fine hair, Multiple lentigines, Dry skin, Large for gest...	OMIM:611553
Recessive X-Linked Ichthyosis	Dry skin, Hypohidrosis, Hyperkeratosis, Ichthyosis	ORPHA:461
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit...	ORPHA:169160
Argininosuccinic Aciduria	Trichorrhexis nodosa, Cerebral edema, Dry hair, Brittle hair	OMIM:207900
Flynn-Aird Syndrome	Alopecia, Skin ulcer	ORPHA:2047
Noonan Syndrome 6	Webbed neck, Low posterior hairline, Curly hair, Long eyebrows, Sparse hair	OMIM:613224
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Alopecia, Skin vesicle, Hypoplastic fingernail	ORPHA:257
Distal Duplication 6P	Abnormal eyelash morphology, Fine hair, Dry skin, Abnormal hair quantity	ORPHA:1745
Anauxetic Dysplasia 2	Nail dysplasia, Sparse hair, Small nail	OMIM:617396
Even-Plus Syndrome	Atopic dermatitis, Highly arched eyebrow, Sparse hair, Synophrys	OMIM:616854
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Decreased response to growth hormone stimul...	OMIM:615577
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Loose anagen hair, Webbed neck, Eczematoid dermatitis, Failure to thrive, Multiple lentigines, Lo...	OMIM:607721
19Q13.11 Microdeletion Syndrome	Toe clinodactyly, Toe syndactyly, Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Finger...	ORPHA:217346
Familial Cold Urticaria	Erythema, Dehydration, Urticaria	ORPHA:47045
Filippi Syndrome	Frontal hirsutism, Sparse hair, Hypertrichosis	OMIM:272440
Kimura Disease	Increased circulating IgE level, Abnormal salivary gland morphology, Follicular hyperplasia, Lymp...	ORPHA:482
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy	Anterior cervical hypertrichosis	OMIM:239840
Arthrogryposis And Ectodermal Dysplasia	Trichiasis, Dry skin, Nail dysplasia, Trichodysplasia, Hypohidrosis, Absent eyebrow, Hyperkeratosis	OMIM:601701
Oculocutaneous Albinism Type 1A	Albinism, Thickened skin, Hypopigmentation of hair, Hyperkeratosis	ORPHA:79431
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Blepharocheilodontic Syndrome 1	High anterior hairline, Small nail, Nail dysplasia, Distichiasis, Sparse hair	OMIM:119580
Combined Oxidative Phosphorylation Deficiency 36	Failure to thrive, Premature skin wrinkling	OMIM:617950
Prolidase Deficiency	Recurrent pneumonia, Skin ulcer, Eczematoid dermatitis, Failure to thrive, Facial hirsutism, Pete...	OMIM:170100
Biotinidase Deficiency	Alopecia, Skin rash, Seborrheic dermatitis, Conjunctivitis, Recurrent skin infections	OMIM:253260
Barber-Say Syndrome	Dermal translucency, Sparse eyebrow, Absent nipple, Hypertrichosis, Premature skin wrinkling, Dry...	OMIM:209885
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia	ORPHA:88630
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal fingertip morphology, Short distal phalanx of finger, Alopecia, Progeroid facial appeara...	ORPHA:90154
Punctate Palmoplantar Keratoderma Type 1	Hyperkeratotic papule, Abnormal epidermal morphology, Orthokeratosis, Palmoplantar keratoderma, H...	ORPHA:79501
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Coarse hair, Failure to thrive, Prominent veins on trunk, Redundant skin, Inguinal hernia, Excess...	ORPHA:357074
2Q32Q33 Microdeletion Syndrome	Sparse hair, Fine hair	ORPHA:251019
Darier-White Disease	Ridged nail, Subungual hyperkeratotic fragments, Acrokeratosis, Acantholysis, Pruritus	OMIM:124200
Trichohepatoenteric Syndrome 1	Fine hair, Trichorrhexis nodosa, Curly hair, Woolly hair, Brittle hair, Polyhydramnios, Jaundice,...	OMIM:222470
Rat-Bite Fever	Septic arthritis, Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, W...	ORPHA:31205
Chronic Mucocutaneous Candidiasis	Erythema, Skin ulcer, Hepatitis, Abnormal fingernail morphology, Skin rash, Abnormal toenail morp...	ORPHA:1334
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Immunodeficiency 23	Allergic rhinitis, Erythema, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Failure to...	OMIM:615816
Dyskeratosis Congenita, Autosomal Recessive 6	Bone marrow hypocellularity, Alopecia, Failure to thrive, Nail dystrophy, Abnormality of skin pig...	OMIM:616353
Donohue Syndrome	Hypertrichosis, Ovarian cyst, Adipose tissue loss, Nail dysplasia, Severe failure to thrive, Acan...	OMIM:246200
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Acne inversa, Chronic furunculosis, Perifolliculitis, Follicular hyperkeratosis, Recurrent cutane...	OMIM:613736
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Cog5-Cdg	Joint contracture of the hand, Abnormality of the frontal hairline, Finger clinodactyly, Prematur...	ORPHA:263487
Short Syndrome	Alopecia, Abnormal dental enamel morphology, Inguinal hernia, Excessive wrinkled skin, Lipodystro...	ORPHA:3163
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Superficial Epidermolytic Ichthyosis	Erythema, Edema, Thin skin	ORPHA:455
Satoyoshi Syndrome	Alopecia universalis, Alopecia	OMIM:600705
Bullous Impetigo	Erythema	ORPHA:36237
Autoimmune Polyendocrinopathy Type 2	Hashimoto thyroiditis, Alopecia	ORPHA:3143
Lessel-Kubisch Syndrome	Sparse pubic hair, Premature graying of hair	OMIM:618681
Johnson Neuroectodermal Syndrome	Alopecia, Absent eyelashes, Hypohidrosis, Absent eyebrow, Sparse hair	ORPHA:2316
Dermatitis, Atopic	Dry skin, Facial erythema, Pallor	OMIM:603165
Harlequin Ichthyosis	Ichthyosis, Erythroderma, Hyperkeratosis, Congenital ichthyosiform erythroderma	ORPHA:457
Protoporphyria, Erythropoietic, 1	Erythema, Edema	OMIM:177000
Xeroderma Pigmentosum	Thickened skin, Alopecia, Erythema, Keratitis, Hypopigmented skin patches, Failure to thrive, Dry...	ORPHA:910
Necrobiosis Lipoidica	Erythema, Telangiectasia of the skin, Fragile skin, Skin ulcer	ORPHA:542592
Iga Pemphigus	Cutaneous abscess, Generalized abnormality of skin, Neutrophilic infiltration of the skin, Pustul...	ORPHA:555905
Ichthyosis Vulgaris	Absent keratohyalin granules, Dry skin, Eczematoid dermatitis, Ichthyosis	OMIM:146700
Aplasia Cutis Congenita	Erythema, Skin ulcer	ORPHA:1114
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Erythroderma, Pruritus, Profuse pigmented skin lesions, Urticaria	ORPHA:280785
Mandibuloacral Dysplasia With Type A Lipodystrophy	Short distal phalanx of finger, Alopecia, Progeroid facial appearance, Breast aplasia, Abnormal e...	ORPHA:90153
Keutel Syndrome	Recurrent otitis media, Alopecia, Recurrent sinusitis	ORPHA:85202
Transaldolase Deficiency	Telangiectasia, Hepatosplenomegaly, Premature skin wrinkling	ORPHA:101028
Oligodontia-Colorectal Cancer Syndrome	Short eyelashes, Sparse body hair, Sparse axillary hair, Absent eyebrow, Sparse scalp hair	OMIM:608615
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Acne, Hirsutism	OMIM:612847
Microphthalmia, Syndromic 8	Cryptorchidism, Split foot, Premature skin wrinkling	OMIM:601349
Hypertrichosis Lanuginosa Congenita	Generalized hirsutism, Thick eyebrow, Abnormality of skin pigmentation	ORPHA:2222
Variegate Porphyria, Childhood-Onset	Atopic dermatitis, Short finger, Scarring, Fragile skin, Cutaneous photosensitivity, Short metaca...	OMIM:620483
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Sparse lateral eyebrow, Small nail, Trichorrhexis nodosa, Recurrent otitis media, Pili ...	OMIM:261990
Seborrhea-Like Dermatitis With Psoriasiform Elements	Epidermal acanthosis, Seborrheic dermatitis, Hyperkeratosis	OMIM:610227
Cutis Laxa, Autosomal Dominant 2	Cutis laxa, Premature skin wrinkling	OMIM:614434
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Sparse axillary hair, Sparse pubic hair	OMIM:146110
Renpenning Syndrome	Thin eyebrow, Alopecia, Abnormal hairshaft morphology	ORPHA:3242
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Abnormal diaphysis morphology, Camptodactyly of finger, Increased circulating IgE...	ORPHA:3409
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:308230
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Abnormal hair morphology, Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:3082
Mycosis Fungoides	Erythema, Psoriasiform dermatitis	OMIM:254400
Noonan Syndrome 9	Webbed neck, Sparse eyebrow, Curly hair	OMIM:616559
Familial Peripheral Male-Limited Precocious Puberty	Abnormal hair morphology, Acne	ORPHA:3000
Poems Syndrome	Thickened skin, Abnormality of skin physiology, Increased circulating prolactin concentration, Hy...	ORPHA:2905
De Sanctis-Cacchione Syndrome	Keratitis, Bilateral cryptorchidism, Telangiectasia, Parakeratosis, Bilateral coxa valga, Conjunc...	OMIM:278800
Monosomy 22	Thickened skin, Scleroderma, Seborrheic dermatitis, Hyperhidrosis, Sparse hair, Synophrys	ORPHA:96123
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Fine hair	ORPHA:3236
Mpdu1-Cdg	Decreased response to growth hormone stimulation test, Eczematoid dermatitis, Ichthyosis, Scaling...	ORPHA:79323
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Psoriasiform derma...	ORPHA:85436
Lymphatic Malformation 4	Toenail dysplasia, Hyperkeratosis	OMIM:615907
Shukla-Vernon Syndrome	Sparse hair	OMIM:301029
Wiedemann-Rautenstrauch Syndrome	Small nail, Clinodactyly, Prominent scalp veins, Dry skin, Reduced subcutaneous adipose tissue, C...	OMIM:264090
Intellectual Developmental Disorder, Autosomal Dominant 34	Synophrys, Coarse hair, Curly hair	OMIM:616351
Ablepharon-Macrostomia Syndrome	Toe syndactyly, Hypoplastic fingernail, Premature skin wrinkling, Dry skin, Cutaneous finger synd...	OMIM:200110
Fontaine Progeroid Syndrome	Small nail, Reduced subcutaneous adipose tissue, Cryptorchidism, Neonatal death, Low posterior ha...	OMIM:612289
Dermatitis Herpetiformis	Erythema, Skin vesicle, Edema, Urticaria	ORPHA:1656
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Eczematoid dermatitis, Failure to thrive in infancy, Decreased c...	OMIM:619510
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	ORPHA:50814
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Atopic dermatitis, Eosinophilic infiltration of the esophagus, R...	OMIM:620532
Primary Erythromelalgia	Erythema	ORPHA:90026
Desbuquois Syndrome	Abnormal eyelash morphology, Sparse hair	ORPHA:1425
Onychotrichodysplasia And Neutropenia	Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C...	OMIM:258360
Bresek Syndrome	Alopecia, Ichthyosis	ORPHA:85284
Oculodentodigital Dysplasia	Fine hair, Abnormal fingernail morphology, Curly hair, Slow-growing hair, Brittle hair, Sparse ha...	ORPHA:2710
Premature Aging Syndrome, Penttinen Type	Sparse hair, Short distal phalanx of finger, Thickened skin, Keloids, Lipoatrophy, Failure to thr...	OMIM:601812
Macs Syndrome	Alopecia, Sparse eyebrow, Bruising susceptibility, Umbilical hernia, Recurrent aphthous stomatiti...	OMIM:613075
Restrictive Dermopathy	Webbed neck, Sparse eyebrow, Short nail, Generalized hyperkeratosis, Sparse or absent eyelashes, ...	ORPHA:1662
Autoimmune Polyendocrinopathy Type 1	Abnormal fingernail morphology, Alopecia, Chronic mucocutaneous candidiasis	ORPHA:3453
Rosaï-Dorfman Disease	Erythema	ORPHA:158014
Ichthyosis, Congenital, Autosomal Recessive 8	Erythema, Orthokeratosis, Hypergranulosis, Ichthyosis, Epidermal acanthosis, Hyperkeratosis	OMIM:613943
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brittle hair	OMIM:619184
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Small nail, Eczematoid dermatitis, Failure to thrive, Nail dystrophy...	OMIM:617052
Ehlers-Danlos Syndrome, Classic-Like, 2	Cellulitis, Webbed neck, Atypical scarring of skin, Poor wound healing, Bruising susceptibility, ...	OMIM:618000
Mixed Connective Tissue Disease	Alopecia, Mediastinal lymphadenopathy, Skin rash, Splenomegaly, Scleroderma, Myositis, Gastritis,...	ORPHA:809
Bacterial Toxic-Shock Syndrome	Cellulitis, Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Skin rash, Ecchymosis, Myositis, Sinu...	ORPHA:36234
Cranioectodermal Dysplasia	Abnormal fingernail morphology, Sparse hair, Abnormal toenail morphology	ORPHA:1515
De Barsy Syndrome	Progeroid facial appearance, Prominent veins on trunk, Umbilical hernia, Failure to thrive, Ingui...	ORPHA:2962
Mucopolysaccharidosis, Type Iiib	Hirsutism, Coarse hair, Synophrys	OMIM:252920
Localized Junctional Epidermolysis Bullosa	Sparse pubic hair, Dystrophic toenail, Atrophic, patchy alopecia, Nail dystrophy, Sparse axillary...	ORPHA:251393
Tetrasomy 12P	Sparse eyebrow, Sparse hair, Hypohidrosis	ORPHA:884
Fountain Syndrome	Facial edema, Erythema, Cutis marmorata, Thick eyebrow, Synophrys	ORPHA:3219
Immunodeficiency 104	Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Failure to thrive secondary ...	OMIM:608971
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Dry skin, Hirsutism, Low anterior hairline, Broad eyebrow, Woolly hair	OMIM:619244
Restrictive Dermopathy 1	Sparse eyebrow, Short nail, Thin skin, Stillbirth, Sparse eyelashes, Absent eyelashes, Neonatal d...	OMIM:275210
Drug Reaction With Eosinophilia And Systemic Symptoms	Erythema, Hepatitis, Angioedema, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pu...	ORPHA:139402
Fg Syndrome Type 1	Small pituitary gland, Clinodactyly of the 2nd finger, Finger syndactyly, Facial wrinkling, Umbil...	ORPHA:93932
Bullous Pemphigoid	Erythema, Psoriasiform dermatitis, Urticaria	ORPHA:703
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Immunodeficiency 7	Failure to thrive, Recurrent otitis media, Vitiligo, Splenomegaly, Patchy alopecia, Lymphadenopat...	OMIM:615387
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Hypopigmentation of the skin, Dystrophic toenail, Decreased number of s...	ORPHA:69087
Adams-Oliver Syndrome 2	Alopecia, Small nail, Low anterior hairline	OMIM:614219
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyebrow, Coarse hair, Palmoplantar keratoderma, Dystrophic toenail, Supernumerary nipple, ...	ORPHA:1071
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Pneumonia, Growth arrest lines, Inflammatory abnormality of the skin, Recurrent pneumonia, Chroni...	OMIM:102700
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Alopecia universalis, Alopecia, Pigmentary retinopathy, Cholelithiasis, Chron...	OMIM:240300
Adult Syndrome	Absent nipple, Toe syndactyly, Fair hair, Eczematoid dermatitis, Breast hypoplasia, Dry skin, Alo...	OMIM:103285
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Woolly hair	OMIM:607450
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Failure to thrive, Decreased c...	OMIM:607271
Proteasome-Associated Autoinflammatory Syndrome 1	Erythema, Finger swelling, Increased circulating interleukin 8 concentration, Premature graying o...	OMIM:256040
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Hypoplastic nipples, Sparse hair, Small nail	OMIM:273400
Warty Dyskeratoma	Abnormal fingernail morphology, Acantholysis, Epidermal thickening, Acrokeratosis	ORPHA:69745
Monosomy 18P	Low posterior hairline, Webbed neck, Alopecia	ORPHA:1598
Acrokeratoelastoidosis Of Costa	Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Palmar hyperhidrosis, Palmoplantar hyperk...	ORPHA:38
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme...	OMIM:145250
Wiedemann-Rautenstrauch Syndrome	Increased circulating prolactin concentration, Recurrent otitis media, Prominent scalp veins, Sle...	ORPHA:3455
Idiopathic Chronic Eosinophilic Pneumonia	Increased circulating IgE level, Atopic dermatitis, Weight loss, Generalized abnormality of skin	ORPHA:2902
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Fine hair	ORPHA:228390
Mucopolysaccharidosis, Type Iiia	Hirsutism, Coarse hair, Synophrys	OMIM:252900
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczematoid dermatitis, Thyroiditis	OMIM:618985
Mucopolysaccharidosis, Type Iiic	Hirsutism, Hypertrichosis, Coarse hair, Synophrys	OMIM:252930
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level, Short distal phalanx of finger, Brachydactyly	ORPHA:1858
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Multiple rows of eyelashes, Facial hirsutism, Thick eyebrow, Curly eyelashes, Low posterior hairl...	ORPHA:163654
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Fine hair, Prominent fingertip pads, Ra...	OMIM:305450
Ablepharon Macrostomia Syndrome	Toe syndactyly, Fine hair, Camptodactyly of finger, Umbilical hernia, Breast hypoplasia, Dry skin...	ORPHA:920
Cardiocranial Syndrome, Pfeiffer Type	Abnormal hair whorl, Sparse hair	ORPHA:2872
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Hypersplenism, Increased circulating antibody level, Increased c...	ORPHA:3261
Kury-Isidor Syndrome	Recurrent otitis media, Alopecia, Hypertrichosis	OMIM:619762
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Seborrheic dermatitis	OMIM:210210
Acrofacial Dysostosis, Palagonia Type	Sparse lateral eyebrow, Thin eyebrow, Low anterior hairline, Sparse eyelashes, Pili torti, Sparse...	ORPHA:1787
Hall-Riggs Syndrome	Coarse hair, Thick hair, Slow-growing hair	ORPHA:2107
Dyskeratosis Congenita	Periodontitis, Hypopigmented skin patches, White hair, Premature graying of hair, Sparse hair, Al...	ORPHA:1775
Riddle Syndrome	Pneumonia, Decreased circulating IgG level, Erythema, Recurrent pneumonia, Decreased circulating ...	ORPHA:420741
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Progeroid facial appearance, Failure to thrive, Dense metaphyseal bands, Generalized lipodystroph...	ORPHA:50811
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Progeroid facial appearance, Increased adipose tissue around the neck, Premature graying of hair,...	ORPHA:280365
Syndromic Diarrhea	Trichorrhexis nodosa, Dry skin, Uncombable hair, Brittle hair, Hypopigmentation of hair, Woolly hair	ORPHA:84064
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Perioral erythema, Dry skin, Alopecia of scalp, Perianal erythema, Paronychia	OMIM:201100
Cutis Laxa, Autosomal Recessive, Type Iiia	Failure to thrive, Umbilical hernia, Inguinal hernia, Cryptorchidism, Talipes equinovarus, Cutis ...	OMIM:219150
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Recurrent otitis media, Dry skin, Hepatosplenomegaly, Reduced subcutaneous adipose tiss...	OMIM:619503
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Synophrys, Sparse eyebrow, Sparse hair, Curly hair	OMIM:620075
Tonne-Kalscheuer Syndrome	Small nail, Fine hair, Concave nail	OMIM:300978
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Palmoplantar keratoderma, Ichthyosis, Hypohidrosis, Anhidrosis, Hyperkeratosis, Congeni...	OMIM:606545
Eec Syndrome	Toe syndactyly, Finger syndactyly, Dry skin, Aplasia/Hypoplasia of the thumb, Inflammatory abnorm...	ORPHA:1896
Rothmund-Thomson Syndrome	Small nail, Porokeratosis, Alopecia totalis, Sparse eyelashes, Aplasia/Hypoplasia of the patella,...	ORPHA:2909
Ectodermal Dysplasia And Immunodeficiency 1	Molluscum contagiosum, Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulatin...	OMIM:300291
Snakebite Envenomation	Erythema, Edema, Angioedema, Ecchymosis	ORPHA:449285
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Sparse hair, Fine hair	OMIM:616817
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Alopecia, Failure to thrive, Decreased testicular size, Decrease...	OMIM:620040
Noonan Syndrome 14	Webbed neck, Sparse eyebrow, Dry skin, Low posterior hairline, Hyperhidrosis, Curly hair, Sparse ...	OMIM:619745
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Sparse hair, Fine hair, Brittle hair	OMIM:618891
Macrocephaly/Autism Syndrome	Coarse hair, Recurrent otitis media, Obesity, Large for gestational age, Splenomegaly, Cutis laxa...	OMIM:605309
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Supernumerary nipple	ORPHA:3224
Trichotillomania	Alopecia	OMIM:613229
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Palmoplantar keratoderma, Small nail, Nail dystrophy, Orthokeratotic hyperkeratosis, Palmoplantar...	OMIM:610644
Noonan Syndrome 7	Low posterior hairline, Webbed neck, Hyperhidrosis, Curly hair	OMIM:613706
Cardiofaciocutaneous Syndrome 1	Webbed neck, Atopic dermatitis, Failure to thrive, Multiple lentigines, Ichthyosis, Splenomegaly,...	OMIM:115150
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Dry skin, Splenomegaly, Punctate keratitis, Increased circulating IgA level, P...	OMIM:617388
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Glomerulonephritis, Fine hair, Synophrys	OMIM:619428
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Fine hair, Supernumerary nipple, Dry skin, Aplastic/hypoplastic toenail, Hypohidrosis, Aplasia/Hy...	ORPHA:1812
Braddock-Carey Syndrome 1	Sparse hair, Curly hair	OMIM:619980
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Lig4 Syndrome	Erythema, Telangiectasia of the skin, Cutaneous photosensitivity, Low anterior hairline	ORPHA:99812
Hatipoglu Immunodeficiency Syndrome	Hyperpigmented/hypopigmented macules, Thickened skin, Atopic dermatitis, Poor wound healing, Fair...	OMIM:620331
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Autosomal Recessive Cutis Laxa Type 2A	Inguinal hernia, Progeroid facial appearance, Thick hair, Excessive wrinkled skin	ORPHA:357058
Porphyria, Congenital Erythropoietic	Thickened skin, Alopecia, Hypopigmentation of the skin, Joint contracture of the hand, Atypical s...	OMIM:263700
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Alopecia	OMIM:620651
Leprosy	Alopecia, Uveitis, Sparse body hair, Penetrating foot ulcers, Acral ulceration, Loss of eyelashes...	ORPHA:548
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Palmoplantar keratoderma, Supernumerary nipple, Sparse body hair, Anhidrosis, Nail dystrophy, Spa...	OMIM:106260
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Slender finger, Clinodactyly, Fine hair, Dorsocervical fat pad, Low anterior hairline, Decreased ...	ORPHA:391408
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Brittle hair	OMIM:616084
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Eczematoid dermatitis, Hyperconvex nail	OMIM:619721
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Hernia, Atrophic scars, Follicular hyperkeratosis, Bruising susceptibility	ORPHA:300179
Chromosome Xq27.3-Q28 Duplication Syndrome	Sparse body hair	OMIM:300869
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Alopecia, Small nail, Ichthyosis, Inguinal hernia, Cryptorchidism, Absent eyelashes, Metaphyseal ...	ORPHA:166035
Noonan Syndrome 10	Webbed neck, Sparse eyebrow, Cryptorchidism, Palmoplantar cutis laxa, Hyperpigmentation of the sk...	OMIM:616564
Familial Melanoma	Abnormal hair morphology, Dry skin, Abnormality of the lymphatic system, Freckling, Neoplasm of t...	ORPHA:618
Cerebrooculofacioskeletal Syndrome 2	Sparse hair	OMIM:610756
Angioedema, Hereditary, 1	Erythema, Angioedema, Laryngeal edema, Intestinal edema, Periorbital edema, Pharyngeal edema	OMIM:106100
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Sparse hair, Hirsutism	OMIM:618087
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Smith-Kingsmore Syndrome	Short distal phalanx of finger, Rhizomelia, Umbilical hernia, Decreased circulating IgA level, La...	OMIM:616638
Nestor-Guillermo Progeria Syndrome	Lipoatrophy, Alopecia, Sparse eyebrow, Spotty hyperpigmentation, Progeroid facial appearance, Fai...	OMIM:614008
Androgen Insensitivity Syndrome	Sparse axillary hair, Sparse pubic hair, Absent facial hair	OMIM:300068
Systemic Sclerosis	Thickened skin, Finger swelling, Digital ulcer, Telangiectasia, Glomerulonephritis, Recurrent ski...	ORPHA:90291
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	OMIM:607812
Cutis Laxa, Autosomal Dominant 3	Premature skin wrinkling, Hernia, Talipes equinovarus, Cutis laxa, Adducted thumb, Dermal translu...	OMIM:616603
Ane Syndrome	Alopecia, Pituitary hypothyroidism, Decreased response to growth hormone stimulation test, Multip...	ORPHA:157954
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair	OMIM:620001
Atypical Werner Syndrome	Subcutaneous calcification, Premature graying of hair, Abnormal hair morphology, Sparse body hair...	ORPHA:79474
Intellectual Developmental Disorder, Autosomal Dominant 65	Low posterior hairline, Thin eyebrow, Sparse hair, Synophrys	OMIM:619320
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Recurrent pneumonia, Failure to thrive, Decreased response to growth hormone stimulatio...	ORPHA:293978
Cataract-Intellectual Disability-Hypogonadism Syndrome	Ulnar deviation of finger, Abnormal distal phalanx morphology of finger, Cryptorchidism, Abnormal...	ORPHA:1387
Cockayne Syndrome	Pigmentary retinopathy, Dry hair, Congenital contracture, Contractures of the large joints, Fine ...	ORPHA:191
Fetal Hydantoin Syndrome	Low posterior hairline, Coarse hair, Hypoplastic fingernail	ORPHA:1912
Tyrosinemia Type 2	Hyperhidrosis, Palmoplantar keratoderma, Abnormality of the nail, Hyperkeratosis	ORPHA:28378
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Alopecia, Malar rash, Skin rash, Myositis, Arthritis	ORPHA:93552
Griscelli Syndrome	Silver-gray hair, Iris hypopigmentation, Bone marrow hypocellularity, Hypopigmented skin patches,...	ORPHA:381
Mitochondrial Complex I Deficiency, Nuclear Type 33	Sparse hair, Bronchiectasis, Aspiration pneumonia	OMIM:618253
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep...	ORPHA:1163
Mandibuloacral Dysplasia With Type A Lipodystrophy	Short distal phalanx of finger, Alopecia, Mottled pigmentation, Increased adipose tissue around t...	OMIM:248370
Xp22.13P22.2 Duplication Syndrome	High anterior hairline, Sparse hair	ORPHA:284180
Ruijs-Aalfs Syndrome	Clinodactyly, Premature graying of hair, Elbow flexion contracture, Decreased body weight, Lipody...	OMIM:616200
Juvenile Dermatomyositis	Erythema, Alopecia, Skin ulcer, Dry skin, Telangiectasia of the skin, Palpebral edema, Cutaneous ...	ORPHA:93672
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer	ORPHA:409
Hutchinson-Gilford Progeria Syndrome	Dystrophic toenail, Generalized abnormality of skin, Premature skin wrinkling, Alopecia totalis, ...	ORPHA:740
Immunodeficiency 64 With Lymphoproliferation	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Failu...	OMIM:618534
Gomez-Lopez-Hernandez Syndrome	Alopecia	OMIM:601853
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Pituitary adenoma, Bruising susceptibility, Striae distensae, Macronodular adrenal hype...	ORPHA:189427
Auriculocondylar Syndrome 2B	Sparse hair, Synophrys	OMIM:620458
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ...	ORPHA:449395
Satoyoshi Syndrome	Abnormal hair morphology, Alopecia universalis, Sparse or absent eyelashes	ORPHA:3130
Neuropathy, Hereditary Sensory, Type If	Osteomyelitis, Hyperkeratosis	OMIM:615632
Griscelli Syndrome Type 2	Iris hypopigmentation, Premature graying of hair, Partial albinism, Petechiae, Splenomegaly, Lymp...	ORPHA:79477
Multiple Sulfatase Deficiency	Ichthyosis, Coarse hair, Thick eyebrow	ORPHA:585
Reactive Arthritis	Inflammation of the large intestine, Osteomyelitis, Recurrent aphthous stomatitis, Pustule, Dystr...	ORPHA:29207
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Nail dystrophy, Nail dysplasia, Cachexia, Hyperpigmentation of the skin, Clubbing, Club...	OMIM:175500
Holocarboxylase Synthetase Deficiency	Alopecia, Skin rash	OMIM:253270
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bone marrow hypocellularity, Dermal translucency, Fine hair, Premature graying of hair, Metaphyse...	OMIM:612199
Progeria-Short Stature-Pigmented Nevi Syndrome	Short distal phalanx of finger, Alopecia, Progeroid facial appearance, Multiple joint contracture...	ORPHA:2959
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Atrophic scars, Corneal scarring, Nail dystrophy, Nail dysplasia, Mitten deformity, Fra...	OMIM:226600
Fanconi Anemia, Complementation Group S	Long eyelashes, Sparse hair, Low anterior hairline	OMIM:617883
Insulin-Resistance Syndrome Type B	Pneumonia, Decreased circulating complement factor B concentration, Alopecia, Nephritis, Abnormal...	ORPHA:2298
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Polyarteritis Nodosa	Erythema, Cutis marmorata, Skin ulcer	ORPHA:767
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Erythema, Eczematoid dermatitis, Redundant skin, Seborrheic dermatitis, Palmoplantar hyperkeratos...	OMIM:259100
Roifman Syndrome	Recurrent pneumonia, Prominent eyelashes, Short toe, Eczematoid dermatitis, Recurrent otitis medi...	ORPHA:353298
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Thickened skin, Hypopigmentation of the skin, Bruising susceptibility, Ocu...	ORPHA:79430
Scarf Syndrome	Webbed neck, Low posterior hairline, Hypoplastic nipples, Cutis laxa, Sparse hair	ORPHA:3134
Limb-Mammary Syndrome	Alopecia, Sparse eyebrow, Absent nipple, Toe syndactyly, Blepharitis, Breast aplasia, Oligodactyl...	ORPHA:69085
Mucopolysaccharidosis-Plus Syndrome	Thickened skin, Bone marrow hypocellularity, Coarse hair, Nephritis, Recurrent pneumonia, Long ey...	OMIM:617303
Hemochromatosis, Type 1	Alopecia, Splenomegaly, Telangiectasia, Hyperpigmentation of the skin, Testicular atrophy	OMIM:235200
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Failu...	OMIM:614576
Adiposis Dolorosa	Sparse pubic hair, Dry skin, Sparse axillary hair, Arthritis, Recurrent skin infections	ORPHA:36397
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Sparse body hair	ORPHA:2234
Hereditary Acrokeratotic Poikiloderma	Erythema, Thin skin, Xerostomia, Dystrophic toenail, Skin ulcer, Nail dystrophy, Dystrophic finge...	ORPHA:2907
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Sparse eyebrow, Sparse scalp hair, Nail dysplasia, Abnormality of skin pigmentation, Hypohidrotic...	OMIM:225050
Spinocerebellar Ataxia-Dysmorphism Syndrome	Coarse hair	ORPHA:1185
Insulin Autoimmune Syndrome	Acanthosis nigricans, Weight loss, Arthralgia/arthritis, Increased circulating antibody level	ORPHA:411593
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Patchy alopecia, Sparse hair	OMIM:617763
Giant Axonal Neuropathy 1, Autosomal Recessive	Curly hair	OMIM:256850
C1Q Deficiency 2	Facial erythema, Vasculitis in the skin	OMIM:620321
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Patchy alopecia	ORPHA:85279
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Woolly hair	OMIM:610193
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Koolen-De Vries Syndrome	Abnormality of hair texture, Dry skin, Hypopigmentation of hair, Ichthyosis	ORPHA:96169
Adrenoleukodystrophy	Alopecia	OMIM:300100
Congenital Syphilis	Pneumonia, Keratitis, Hepatosplenomegaly, Palmoplantar scaling skin, Petechiae, Tibial bowing, Sy...	ORPHA:499009
Generalized Pustular Psoriasis	Palmoplantar pustulosis, Pustule, Erythroderma, Arthritis, Cheilitis, Abnormality of the nail, Uv...	ORPHA:247353
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Alopecia, Fine hair, Premature graying of hair, Dry skin, Avascular ...	OMIM:613990
Histiocytosis, Familial Lipochrome	Increased circulating antibody level	OMIM:235900
Bartsocas-Papas Syndrome	Alopecia totalis, Sparse or absent eyelashes, Hypoplastic toenails, Aplasia/Hypoplasia of the eye...	ORPHA:1234
Tempi Syndrome	Telangiectasia, Transudative pleural effusion, Facial erythema, Ascites	ORPHA:284227
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Iridocyclitis, Pancreatitis	ORPHA:412057
Milroy Disease	Toenail dysplasia, Hyperkeratosis, Erysipelas	ORPHA:79452
Ogden Syndrome	Cutis laxa, Fine hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:276432
Acrofacial Dysostosis, Catania Type	Webbed neck, Abnormal hair pattern, Coarse hair	ORPHA:1786
Singleton-Merten Syndrome 2	Psoriasiform lesion, Hyperkeratosis	OMIM:616298
Orofaciodigital Syndrome Type 1	Alopecia, Coarse hair, Dry skin, Brittle hair, Sparse hair	ORPHA:2750
Mucolipidosis Ii Alpha/Beta	Palpebral edema, Sparse eyebrow, Sparse hair, Brittle hair	OMIM:252500
Cranioectodermal Dysplasia 3	Short nail, Fine hair, Dry skin, Cutis laxa, Broad nail, Sparse hair	OMIM:614099
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypopigmented skin patches, Decreased circulating IgA level, Large for gestational age, Cryptorch...	ORPHA:457485
Proteasome-Associated Autoinflammatory Syndrome 2	Clinodactyly, Failure to thrive, Abnormal circulating IgM level, Neutrophilic infiltration of the...	OMIM:618048
Acquired Generalized Lipodystrophy	Abnormality of complement system, Progeroid facial appearance, Generalized lipodystrophy, General...	ORPHA:79086
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Rothmund-Thomson Syndrome Type 1	Porokeratosis, Alopecia totalis, Patellar aplasia, Cryptorchidism, Telangiectasia, Sparse hair, S...	ORPHA:221008
Marshall-Smith Syndrome	Highly arched eyebrow, Hypertrichosis, Thick eyebrow, Brittle hair, Sparse hair, Synophrys	OMIM:602535
Indolent Systemic Mastocytosis	Mastocytosis, Generalized abnormality of skin, Urticaria, Increased proportion of CD25+ mast cell...	ORPHA:98848
Polyendocrine-Polyneuropathy Syndrome	Alopecia	ORPHA:453533
Woodhouse-Sakati Syndrome	Alopecia, Scaling skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:3464
Frontonasal Dysplasia 2	Sparse eyebrow, Fine hair, Alopecia totalis, Sparse eyelashes, Hypohidrosis, Sparse hair	OMIM:613451
Sunct Syndrome	Facial edema, Palpebral edema, Facial erythema, Flushing	ORPHA:57145
Trichorhinophalangeal Syndrome, Type I	Sparse lateral eyebrow, Fine hair, Thin eyebrow, Leukonychia, Concave nail, Slow-growing hair, Th...	OMIM:190350
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin, Multiple joint contractures, Cryptorchidism, Follicular hyperkeratosis, Overweight	ORPHA:486815
Dermatomyositis	Cellulitis, Erythema, Dry skin, Weight loss, Cutaneous photosensitivity, Abnormality of the nail,...	ORPHA:221
Joubert Syndrome 37	Sparse hair	OMIM:619185
Ramon Syndrome	Juvenile rheumatoid arthritis, Hyperkeratosis, Hypertrichosis	OMIM:266270
Kikuchi-Fujimoto Disease	Erythema, Alopecia, Abnormal lymph node morphology, Cervical lymphadenopathy, Malar rash, Enlarge...	ORPHA:50918
Palmoplantar Keratoderma, Punctate Type Ia	Epidermal acanthosis, Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Autosomal Dominant Hypocalcemia	Alopecia, Eczematoid dermatitis, Abnormal fingernail morphology, Dry skin, Abnormality of the nail	ORPHA:428
Ectodermal Dysplasia And Immunodeficiency 2	Dry skin, Hypohidrosis, Anhidrosis, Aplasia of the sweat glands, Sparse hair, Sparse scalp hair	OMIM:612132
Trichorhinophalangeal Syndrome Type 1	Sparse eyebrow, Leukonychia, Sparse eyelashes, Sparse hair, Fragile nails	ORPHA:77258
Behcet Syndrome	Erythema, Patchy alopecia, Iridocyclitis, Erythema nodosum, Arthritis, Epididymitis, Iritis	OMIM:109650
Lead Poisoning	Abnormality of humoral immunity, Increased circulating IgE level, Skin rash, Tubulointerstitial n...	ORPHA:330015
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Erythema, Abnormal hair morphology, Scleritis, Absent eyebrow, Sparse hair, Hyperkeratosis, Abnor...	ORPHA:2273
Agel Amyloidosis	Bruising susceptibility, Dry skin, Dermatological manifestations of systemic disorders, Nail dyst...	ORPHA:85448
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Toe syndactyly, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Ectodermal dysplasia, ...	OMIM:129900
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Ichthyosis	OMIM:163200
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Abnormality of hair texture, Generalized ichthyosis, Esophagitis	ORPHA:79351
Tularemia	Pneumonia, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morpholog...	ORPHA:3392
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Cutis laxa, Thick eyebrow, Fine hair	OMIM:614800
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Alopecia, Premature graying of hair, Ridged nail, Interstitial pneum...	OMIM:127550
Chromosome 19Q13.11 Deletion Syndrome, Distal	Sparse eyebrow, Failure to thrive, Dry skin, Overlapping toe, Cutaneous finger syndactyly, Reduce...	OMIM:613026
Papa Syndrome	Skin ulcer, Increased circulating antibody level, Pustule, Increased inflammatory response, Crohn...	ORPHA:69126
Hereditary Sensory And Autonomic Neuropathy Type 1	Poor wound healing, Skin ulcer, Penetrating foot ulcers, Osteomyelitis, Hyperkeratosis	ORPHA:36386
Kawasaki Disease	Abnormality of nail color, Hepatitis, Conjunctivitis, Cervical lymphadenopathy, Skin rash, Cholec...	ORPHA:2331
Chime Syndrome	Erythema, Skin ulcer, Fine hair, Ichthyosis, Sparse hair, Hyperkeratosis	ORPHA:3474
Gorlin-Chaudhry-Moss Syndrome	Generalized hirsutism, Coarse hair, Low anterior hairline	ORPHA:2095
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Cellulitis, Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Spl...	OMIM:615513
Congenital Disorder Of Glycosylation, Type Iie	Failure to thrive, Hypertrichosis, Overlapping fingers, Splenomegaly, Excessive wrinkled skin, Lo...	OMIM:608779
Localized Scleroderma	Thickened skin, Erythema, Hypopigmented skin patches, Abnormal skin adnexa morphology, Fasciitis,...	ORPHA:90289
Focal Dermal Hypoplasia	Erythema, Alopecia, Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Camp...	ORPHA:2092
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Alopecia, Sparse eyebrow, Tapered toe, Small nail, Vascular skin abnormality, Bilateral cryptorch...	ORPHA:544488
Xeroderma Pigmentosum, Complementation Group F	Erythema, Cutaneous photosensitivity	OMIM:278760
Intellectual Disability, Buenos-Aires Type	Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair	ORPHA:3079
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Angioedema, Swelling of proximal interphalangeal joints, Cu...	ORPHA:3260
Borjeson-Forssman-Lehmann Syndrome	Sparse hair, Thick eyebrow	ORPHA:127
Rothmund-Thomson Syndrome Type 2	Erythema, Porokeratosis, Alopecia totalis, Patellar aplasia, Aplasia/hypoplasia involving bones o...	ORPHA:221016
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair	OMIM:614105
Simpson-Golabi-Behmel Syndrome	Toe syndactyly, Broad thumb, Finger syndactyly, Small nail, Supernumerary nipple, Increased circu...	ORPHA:373
Celiac Disease, Susceptibility To, 1	Alopecia, Eczematoid dermatitis, Failure to thrive, Decreased circulating IgA level, Recurrent ap...	OMIM:212750
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Overlapping toe, Cryptorchidism, Talipe...	OMIM:277590
Combined Immunodeficiency-Enteropathy Spectrum	Thickened skin, Hepatitis, Psoriasiform dermatitis, Alopecia of scalp, Nail dystrophy, Hashimoto ...	ORPHA:436252
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma, Failure to thrive	OMIM:227090
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Long eyelashes, Fine hair, Synophrys	OMIM:620250
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Aplasia/hypoplasia involving bones of the extremities, Decreased lymphocyte ...	ORPHA:508533
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Skin rash, Pustule, Epidermal acanthos...	OMIM:612852
Garg-Mishra Progeroid Syndrome	Sparse hair, Small nail	OMIM:620601
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Acrocyanosis, Purpura, Urticaria	ORPHA:343
Müllerian Aplasia And Hyperandrogenism	High anterior hairline, Frontal balding, Facial hirsutism, Thick eyebrow, Hirsutism, Acne, Synophrys	ORPHA:247768
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Fine hair	ORPHA:363686
Mogs-Cdg	Decreased circulating IgG level, Alopecia, Fair hair, Long eyelashes, Overlapping fingers, Decrea...	ORPHA:79330
Immunoglobulin A Vasculitis	Erythema, Skin ulcer, Vascular skin abnormality, Angioedema, Bruising susceptibility, Purpura, Ed...	ORPHA:761
Scarf Syndrome	Webbed neck, Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Cutis laxa, Spar...	OMIM:312830
Dermatosparaxis Ehlers-Danlos Syndrome	Abnormality of subcutaneous fat tissue, Avascular necrosis of the capital femoral epiphysis, Esop...	ORPHA:1901
Noonan Syndrome 4	Webbed neck, Sparse eyebrow, High anterior hairline, Curly hair	OMIM:610733
Kcnq2-Related Epileptic Encephalopathy	Cerebral edema, Facial erythema, Pallor	ORPHA:439218
Adams-Oliver Syndrome	Short distal phalanx of finger, Alopecia, Absent toe, Finger syndactyly, Failure to thrive, Hypop...	ORPHA:974
Aredyld Syndrome	Sparse body hair, Abnormal dental enamel morphology, Splenomegaly, Cachexia, Brachydactyly, Aplas...	ORPHA:1133
Giant Cell Arteritis	Alopecia, Skin ulcer, Hyperhidrosis, Arthritis, Pericarditis	ORPHA:397
Ogden Syndrome	Facial wrinkling, Recurrent otitis media, Cryptorchidism, Jaundice, Minimal subcutaneous fat, Spa...	OMIM:300855
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of hair texture	ORPHA:88618
Chromosome 5P13 Duplication Syndrome	Low posterior hairline, Sparse hair	OMIM:613174
Syndromic Recessive X-Linked Ichthyosis	Hypohidrosis, Hyperkeratosis, Ichthyosis	ORPHA:281090
Noonan Syndrome 2	Webbed neck, Sparse eyebrow, Arthrogryposis multiplex congenita, Prominent fingertip pads, Melano...	OMIM:605275
Koolen-De Vries Syndrome	Iris hypopigmentation, Slender finger, Fair hair, Prominent fingertip pads, Eczematoid dermatitis...	OMIM:610443
Keppen-Lubinsky Syndrome	Recurrent pneumonia, Progeroid facial appearance, Failure to thrive, Premature skin wrinkling, De...	ORPHA:435628
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Alopecia, Finger syndactyly, Hypopigmented skin patches, Abnormal...	ORPHA:1647
Familial Benign Chronic Pemphigus	Erythema, Acantholysis, Hyperkeratosis, Skin vesicle	ORPHA:2841
Galloway-Mowat Syndrome 9	Coarse hair	OMIM:619603
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis, Joint contracture	OMIM:617066
Bloom Syndrome	Sparse eyelashes, Telangiectasia, Cutaneous photosensitivity, Hypopigmentation of the skin, Otiti...	ORPHA:125
Hawkinsinuria	Sparse hair	OMIM:140350
Relapsing Polychondritis	Erythema, Alopecia, Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Epi...	ORPHA:728
Classical-Like Ehlers-Danlos Syndrome Type 2	Cellulitis, Webbed neck, Alopecia, Widened atrophic scar, Periodontitis, Sandal gap, Prominent ve...	ORPHA:536532
Fixed Drug Eruption	Erythema, Generalized abnormality of skin	ORPHA:293812
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Bronchiectasis, Decreased circulating IgA level, Splenomegaly, C...	OMIM:618394
Cartilage-Hair Hypoplasia	Sparse eyebrow, Fair hair, Fine hair, Sparse eyelashes, Sparse facial hair, Sparse hair	OMIM:250250
Proteasome-Associated Autoinflammatory Syndrome 3	Finger swelling, Failure to thrive, Skin rash, Splenomegaly, Increased circulating antibody level...	OMIM:617591
Glutamine Deficiency, Congenital	Erythema	OMIM:610015
Cerebrofaciothoracic Dysplasia	Coarse hair, Thick eyebrow, Low posterior hairline, Abnormal hair pattern, Synophrys	ORPHA:1394
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Highly arched eyebrow, High anterior hairline, Coarse hair, Webbed neck, Sparse lateral eyebrow, ...	OMIM:617506
Wrinkly Skin Syndrome	Short nail, Progeroid facial appearance, Failure to thrive, Umbilical hernia, Redundant skin, Ing...	OMIM:278250
Gapo Syndrome	Alopecia, Sparse eyebrow, Hypopigmented skin patches, Umbilical hernia, Abnormal metaphysis morph...	ORPHA:2067
Rothmund-Thomson Syndrome, Type 2	Alopecia, Sparse eyebrow, Small hand, Short thumb, Annular pancreas, Premature graying of hair, N...	OMIM:268400
Neutropenia, Chronic Familial	Periodontitis, Increased circulating antibody level, Clubbing, Clubbing of fingers	OMIM:162700
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Poor wound healing, Eczematoid dermatitis, Hepatitis, Increase...	OMIM:620565
Schnitzler Syndrome	Urticaria, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis, Pruritus, Increased circulating I...	ORPHA:37748
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Nail dysplasia, Sparse hair, Fine hair, Aplasia/Hypoplasia of the eyebrow	OMIM:614091
Hallermann-Streiff Syndrome	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of hair texture, Sparse...	ORPHA:2108
Arthrogryposis Multiplex Congenita 5	Hand clenching, Premature skin wrinkling, Umbilical hernia, Elbow flexion contracture, Inguinal h...	OMIM:618947
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	High anterior hairline, Hypohidrosis, Hyperkeratosis	OMIM:615510
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Thickened skin, Thick eyebrow, Hypoplastic sweat glands, Orthokeratotic hyperkeratosis, Epidermal...	ORPHA:73223
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ...	OMIM:240500
Kindler Epidermolysis Bullosa	Erythema, Atypical scarring of skin, Inflammation of the large intestine, Palmoplantar keratoderm...	ORPHA:2908
Epidermodysplasia Verruciformis	Hypopigmented skin patches, Pustule, Seborrheic dermatitis, Telangiectasia of the skin, Multiple ...	ORPHA:302
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia	ORPHA:93160
Meige Disease	Cellulitis, Atypical scarring of skin, Skin ulcer, Absence of lymph node germinal center, Cobbles...	ORPHA:90186
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Immunodeficiency 27A	Pneumonia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Splenomegaly, Hypoplasia of the fe...	OMIM:209950
Cockayne Syndrome B	Pigmentary retinopathy, Dry hair, Atypical scarring of skin, Progeroid facial appearance, Small f...	OMIM:133540
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Biotinidase Deficiency	Skin rash, Conjunctivitis, Alopecia, Eczematoid dermatitis	ORPHA:79241
Johanson-Blizzard Syndrome	Abnormal hair pattern, Alopecia	ORPHA:2315
Roifman Syndrome	Recurrent pneumonia, Prominent eyelashes, Short toe, Eczematoid dermatitis, Recurrent otitis medi...	OMIM:616651
Cutis Laxa, Autosomal Recessive, Type Iib	Bruising susceptibility, Failure to thrive, Redundant skin, Inguinal hernia, Excessive wrinkled s...	OMIM:612940
Werner Syndrome	Subcutaneous calcification, Progeroid facial appearance, Alopecia of scalp, Scleroderma, Prematur...	OMIM:277700
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Flared metaphysis, Carpal synostosis, Atrophic scars, Dysplasia of the femoral head, Decreased bo...	OMIM:615349
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	Highly arched eyebrow, Thick eyebrow, Redundant neck skin, Low posterior hairline, Curly hair	OMIM:617360
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Toe syndactyly, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Ectodermal dysplasia, ...	OMIM:604292
Aicardi-Goutieres Syndrome 1	Erythema, Petechiae, Purpura, Prolonged neonatal jaundice, Acrocyanosis	OMIM:225750
ERI1-related disease	Failure to thrive, Slender metacarpals, Oligodactyly, Clinodactyly of the 5th finger, Inguinal he...	OMIM:608739
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit...	ORPHA:276
Encephalocraniocutaneous Lipomatosis	Alopecia, Subcutaneous lipoma, Linear hyperpigmentation, Cryptorchidism, Multiple central nervous...	OMIM:613001
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Curly hair	OMIM:300986
Chops Syndrome	Coarse hair, Aspiration pneumonia, Long eyelashes, Thick eyebrow, Thick hair, Curly hair, Synophrys	OMIM:616368
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Recurrent pneumonia, Hypertrichosis, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating a...	OMIM:619750
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Congenital nonbullous ichthyosiform erythroderma	ORPHA:98907
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Decreased circulatin...	ORPHA:397596
Schimke Immunoosseous Dysplasia	Coarse hair, Fine hair, Bilateral cryptorchidism, Hypoplasia of the capital femoral epiphysis, De...	OMIM:242900
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Erythema, Sparse eyebrow, Fine hair, Nail dystrophy, Sparse eyelashes, Onycholysis, Fragile skin,...	OMIM:614748
Scalp-Ear-Nipple Syndrome	Thickened skin, Sparse pubic hair, Fine hair, Breast aplasia, Dry skin, Pyelonephritis, Nail dysp...	OMIM:181270
Interstitial Granulomatous Dermatitis With Arthritis	Erythema	ORPHA:79099
Cockayne Syndrome A	Pigmentary retinopathy, Dry hair, Atypical scarring of skin, Retinal pigment epithelial mottling,...	OMIM:216400
Nodular Non-Suppurative Panniculitis	Erythema, Edema	ORPHA:33577
Revesz Syndrome	Ridged fingernail, Fine hair, Nail dystrophy, Sparse hair, Nail pits	OMIM:268130
Fucosidosis	Failure to thrive, Vascular skin abnormality, Generalized hyperkeratosis, Acrocyanosis, Lipoatrop...	ORPHA:349
Epidermodysplasia Verruciformis, Susceptibility To, 4	Facial erythema	OMIM:618307
Thanatophoric Dysplasia Type 1	Micromelia, Femoral bowing, Redundant skin, Excessive wrinkled skin, Bowing of the long bones, Ac...	ORPHA:1860
Proteasome-Associated Autoinflammatory Syndrome 4	Erythema, Edema	OMIM:619183
Menkes Disease	Sparse hair, Thickened skin, Atypical scarring of skin, Chondrocalcinosis, Spontaneous hematomas,...	ORPHA:565
Phoar2-Enteropathy Syndrome	Thickened skin, Seborrheic dermatitis, Acne, Hyperhidrosis	OMIM:614441
Irida Syndrome	Hyperkeratosis, Ichthyosis, Pallor	ORPHA:209981
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Curly hair	ORPHA:85184
Large Congenital Melanocytic Nevus	Hypopigmented skin patches, Congenital giant melanocytic nevus, Generalized hirsutism, Abnormalit...	ORPHA:626
Marshall Syndrome	Sparse eyebrow, Sparse eyelashes, Hypohidrosis, Osteoarthritis, Sparse hair	ORPHA:560
Trichohepatoneurodevelopmental Syndrome	Thoracic hypertrichosis, Coarse hair, Bilateral coxa valga, Cholelithiasis, Pruritus, Recurrent o...	OMIM:618268
Gapo Syndrome	Alopecia, Sparse eyebrow, Breast hypoplasia, Redundant skin, Sparse eyelashes, Nail dysplasia, Hy...	OMIM:230740
Pemphigus Erythematosus	Acantholysis, Malar rash, Hypopigmented skin patches	ORPHA:79480
Pseudoxanthoma Elasticum	Bruising susceptibility, Striae distensae, Skin rash, Excessive wrinkled skin, Lack of skin elast...	ORPHA:758
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal pancreas morphology, Increased circulating IgE level, Reduced ...	ORPHA:449432
Ritscher-Schinzel Syndrome 4	Curly hair	OMIM:619435
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Bone marrow hypocellularity, Failure to thrive, Decreased pineal volume, Enterocolitis, Hyperkera...	OMIM:301108
Bloom Syndrome	Decreased circulating IgG level, Facial telangiectasia in butterfly midface distribution, Hypopig...	OMIM:210900
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Dry skin, Large hands, Bilateral tali...	OMIM:280000
Chronic Graft Versus Host Disease	Thickened skin, Alopecia, Erythema, Poor wound healing, Skin ulcer, Urinary bladder inflammation,...	ORPHA:99921
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Reduced delayed hypersensitivity, Malar rash, Chronic noninfectious lymphadenopathy, P...	OMIM:603909
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Recurrent otitis media, Ichthyosis, Splenomegaly, Lymphocytic interstitial pne...	OMIM:618495
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Fine hair, Hypopigmented skin patches, Dry skin, Multiple cafe-au-lait spots, Brachyd...	ORPHA:2637
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Acne, Hirsutism	ORPHA:90795
Systemic Lupus Erythematosus	Discoid lupus rash, Cheilitis, Alopecia, Malar rash, Decreased circulating complement C4 concentr...	ORPHA:536
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Thymoma, Aplasia/Hypoplasia of the spleen, Alopecia, Rheumatoid arthritis, He...	ORPHA:227990
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Lymphadenopathy, Increased circulating IgG leve...	OMIM:619220
Dubowitz Syndrome	Small hand, Toe syndactyly, Broad thumb, Dry skin, Cutis marmorata, Cryptorchidism, Aplasia/Hypop...	ORPHA:235
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyebrow, High anterior hairline, Small nail, Sparse eyelashes, Sparse hair	OMIM:250410
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Sparse pubic hair, Alopecia, Sparse eyebrow, Abnormal eyebrow morphology, Breast hypoplasia, Alop...	ORPHA:2232
Sialidosis Type 1	Hernia, Hyperkeratosis, Splenomegaly, Vascular skin abnormality	ORPHA:812
Focal Dermal Hypoplasia	Supernumerary nipple, Ridged nail, Absent toenail, Nail dystrophy, Telangiectasia, Nail dysplasia...	OMIM:305600
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Recurrent pneumonia, Decreased specific anti-polysaccharide ...	OMIM:301000
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Decreased circulating IgG level, Atopic dermatitis, Inflammation of the large...	ORPHA:436159
Distal Deletion 19P	Alopecia, Thick eyebrow	ORPHA:96129
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Fine hair, Sparse eyelashes	OMIM:257850
Sympathetic Ophthalmia	Erythema, Alopecia, Poliosis, Macular edema	ORPHA:79098
Chand Syndrome	Nail dysplasia, Hypohidrosis, Dry skin, Curly hair	ORPHA:1401
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Failure to thrive, Premature graying of hair, White forelock, Nail d...	OMIM:613989
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Thymoma, Aplasia/Hypoplasia of the spleen, Alopecia, Rheumatoid arthritis, He...	ORPHA:227982
Viss Syndrome	Increased circulating IgE level, Genu valgum, Contracture of the proximal interphalangeal joint o...	OMIM:619472
Osteogenesis Imperfecta, Type Xx	Highly arched eyebrow, Sparse hair, Sparse lateral eyebrow	OMIM:618644
Immunodeficiency 22	Decreased circulating IgG level, Decreased circulating IgE, Failure to thrive, Decreased circulat...	OMIM:615758
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Telangiectasia, Telangiectasia of the skin, Hyperkeratosis	ORPHA:79279
Intellectual Developmental Disorder, Autosomal Dominant 54	Eczematoid dermatitis, Dry skin, Thin nail, Anhidrosis, Sparse hair	OMIM:617799
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Splenomegaly, Recu...	OMIM:300853
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Seborrheic dermatitis, Eczematoid dermatitis, Failure to thrive	OMIM:619693
Mucolipidosis Type Ii	Thickened skin, Dry hair, Fine hair, White hair, Umbilical hernia, Hepatosplenomegaly, Inguinal h...	ORPHA:576
Leishmaniasis	Skin ulcer, Pallor, Splenomegaly, Increased circulating antibody level, Weight loss, Lymphadenopa...	ORPHA:507
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Pruritus, Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:86893
Gaucher Disease, Perinatal Lethal	Arthrogryposis multiplex congenita, Hepatosplenomegaly, Ichthyosis, Petechiae, Neonatal death, Sp...	OMIM:608013
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Highly arched eyebrow, Webbed neck, Failure to thrive, Fine hair, Hepatosplenomegaly, Splenomegal...	OMIM:613563
Immunodeficiency 52	Recurrent pneumonia, Failure to thrive, Decreased circulating IgA level, Splenomegaly, Defective ...	OMIM:617514
Boutonneuse Fever	Cervical lymphadenopathy, Skin rash, Petechiae, Maculopapular exanthema, Lymphadenopathy, Increas...	ORPHA:83313
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dry hair, Low anterior hairline	OMIM:618569
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Recurrent pneumonia, Poor wound healing, Bruising susceptibility, Inguinal hernia, Excessive wrin...	OMIM:225400
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Sparse body hair	ORPHA:3068
Craniofrontonasal Syndrome	Webbed neck, Toe syndactyly, Broad hallux, Umbilical hernia, Breast hypoplasia, Ridged nail, Cong...	OMIM:304110
Diamond-Blackfan Anemia 21	Coarse hair, Horizontal eyebrow, Short toe, Sandal gap, Preaxial hand polydactyly, Cutis marmorat...	OMIM:620072
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating...	OMIM:616100
Microscopic Polyangiitis	Subcutaneous hemorrhage, Erythema, Cutis marmorata, Skin ulcer	ORPHA:727
Glass Syndrome	Nail dysplasia, Long eyelashes, Sparse hair, Thin skin	OMIM:612313
Vitamin D-Dependent Rickets, Type 2A	Alopecia universalis, Subperiosteal bone resorption, Failure to thrive, Fibular bowing, Femoral b...	OMIM:277440
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Recurrent pneumonia, Bronchiectasis, Septic arthritis, Pyoderma,...	OMIM:300755
Hajdu-Cheney Syndrome	Thickened skin, Periodontitis, Dry skin, Generalized hirsutism, Bowing of the long bones, Hernia,...	ORPHA:955
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	High anterior hairline, Horizontal eyebrow, Sparse lateral eyebrow, Prominent fingertip pads, Fai...	OMIM:619950
Thrombocytopenia 1	Bruising susceptibility, Eczematoid dermatitis, Increased circulating IgE level, Petechiae, Incre...	OMIM:313900
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Hypoplasia of the capital femoral epiphysis, Coxa valga, Erythroderma, Brachydactyly, Metaphyseal...	OMIM:617425
Autosomal Dominant Cutis Laxa	Premature skin wrinkling, Pyelonephritis, Redundant skin, Inguinal hernia, Redundant neck skin, H...	ORPHA:90348
Lymphatic Malformation 12	Hydrocele testis, Hyperkeratosis, Inguinal hernia, Neonatal death	OMIM:620014
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612783
Immunodeficiency 105	Decreased circulating IgG level, Absence of lymph node germinal center, Decreased circulating IgA...	OMIM:619924
Bcard Syndrome	Nail dysplasia, Coarse hair	OMIM:612394
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma	OMIM:615735
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Failure to thrive, Increased circulating IgE level, Pancolitis, Decreased T cell activation, Peri...	OMIM:618213
Complete Androgen Insensitivity Syndrome	Sparse pubic hair, Sparse axillary hair, Absent pubic hair, Absent axillary hair, Acne	ORPHA:99429
Renpenning Syndrome 1	Sparse hair, Sparse lateral eyebrow, Brittle hair	OMIM:309500
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Pneumonia, Trichiasis, Atypical scarring of skin, Hypopigmentation of the skin, Inflammatory abno...	ORPHA:95455
Dyskeratosis Congenita, Autosomal Recessive 1	Bone marrow hypocellularity, Small nail, Pterygium of nails, Nail dystrophy, Reticular hyperpigme...	OMIM:224230
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Periodontitis, Bruising su...	OMIM:214500
Koolen-De Vries Syndrome Due To A Point Mutation	Alopecia, Hypopigmentation of the skin, Fair hair, Prominent fingertip pads, Eczematoid dermatiti...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Alopecia, Hypopigmentation of the skin, Fair hair, Prominent fingertip pads, Eczematoid dermatiti...	ORPHA:363958
Genitopatellar Syndrome	Sparse scalp hair, Fine hair	ORPHA:85201
Erythema Elevatum Diutinum	Skin rash, Skin vesicle, Vasculitis in the skin, Increased circulating antibody level	ORPHA:90000
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Alopecia totalis	OMIM:618775
Lenz-Majewski Hyperostotic Dwarfism	Thin skin, Failure to thrive, Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of th...	OMIM:151050
Oculodentodigital Dysplasia	Uveitis, Dry hair, Fine hair, Slow-growing hair, Sparse hair, Fragile nails	OMIM:164200
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	White hair, Fine hair	ORPHA:935
46,Xy Sex Reversal 6	Sparse axillary hair, Hirsutism	OMIM:613762
Hennekam-Beemer Syndrome	Erythema, Telangiectasia of the skin, Skin vesicle, Urticaria	ORPHA:2135
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Erythema	OMIM:614878
Trisomy 20P	Highly arched eyebrow, Coarse hair, Thick eyebrow, Low anterior hairline, Low posterior hairline,...	ORPHA:261318
Mucopolysaccharidosis, Type Iiid	Coarse hair, Recurrent otitis media, Facial hirsutism, Thick eyebrow, Hirsutism, Synophrys	OMIM:252940
Mu-Heavy Chain Disease	Lymphadenopathy, Weight loss, Splenomegaly, Increased circulating antibody level	ORPHA:100024
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Basel-Vanagaite-Smirin-Yosef Syndrome	Recurrent pneumonia, Sparse hair	OMIM:616449
Cahmr Syndrome	Generalized hypertrichosis	OMIM:211770
Mycetoma	Osteomyelitis, Cobblestone-like hyperkeratosis, Abnormality of the lymphatic system, Prominent su...	ORPHA:2583
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Brittle hair	OMIM:124000
Hallermann-Streiff Syndrome	Sparse eyebrow, Recurrent pneumonia, Fine hair, Dry skin, Sparse eyelashes, Sparse hair, Sparse s...	OMIM:234100
Neutrophilic Dermatosis, Acute Febrile	Pyoderma gangrenosum, Erythema	OMIM:608068
Subcorneal Pustular Dermatosis	Erythema	ORPHA:48377
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurr...	OMIM:607594
Costello Syndrome	Webbed neck, Failure to thrive, Hyperextensibility of the finger joints, Curly hair, Concave nail...	OMIM:218040
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Thickened skin, Seborrheic dermatitis, Acne, Hyperhidrosis	OMIM:167100
Wrinkly Skin Syndrome	Excessive skin wrinkling on dorsum of hands and fingers, Failure to thrive, Prominent veins on tr...	ORPHA:2834
Letterer-Siwe Disease	Hepatosplenomegaly, Pallor, Seborrheic dermatitis, Jaundice, Stomatitis	OMIM:246400
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, ...	OMIM:601859
Congenital Disorder Of Glycosylation, Type Iia	Long eyelashes, Sparse hair, Thick eyebrow, Hirsutism	OMIM:212066
Fowler Urethral Sphincter Dysfunction Syndrome	Acne, Hirsutism	ORPHA:2795
Linear Nevus Sebaceus Syndrome	Alopecia	ORPHA:2612
Seckel Syndrome	Sandal gap, Abnormal dental enamel morphology, Cachexia, Clinodactyly of the 5th finger, Prematur...	ORPHA:808
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Dry skin, Cryptorchidism, Hip contracture, Sparse eyelashes, Bowing of the l...	OMIM:210710
Lysinuric Protein Intolerance	Cutis laxa, Sparse hair, Pancreatitis, Fine hair	OMIM:222700
Zika Virus Disease	Myelitis, Retinal pigment epithelial mottling, Subcutaneous hemorrhage, Skin rash, Maculopapular ...	ORPHA:448237
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Lymphangioma, Ovarian neoplasm, Excessive wrinkled skin	ORPHA:137608
Cerebellofaciodental Syndrome	Sparse eyebrow, Fine hair	OMIM:616202
Neuroocular Syndrome 1	Highly arched eyebrow, Small nail, Long eyelashes, Thick eyebrow, Distichiasis, Brittle hair, Syn...	OMIM:619539
Mucopolysaccharidosis, Type Vii	Recurrent otitis media, Coarse hair, Thick eyebrow, Hirsutism	OMIM:253220
Scalp-Ear-Nipple Syndrome	Breast aplasia, Abnormal fingernail morphology, Pyelonephritis, Hypohidrosis, Sparse hair	ORPHA:2036
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Skin ulcer, Atrophic scars, Increased ...	ORPHA:48104
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Chronic muco...	ORPHA:911
Leprechaunism	Thickened skin, Facial hypertrichosis, Failure to thrive, Hypertrichosis, Reduced subcutaneous ad...	ORPHA:508
Woodhouse-Sakati Syndrome	Alopecia, Sparse hair, Fine hair	OMIM:241080
Lymphatic Filariasis	Lymphadenitis, Abnormality of the lymphatic system, Orchitis, Knee osteoarthritis, Hyperpigmentat...	ORPHA:2035
Alstrom Syndrome	Nephritis, Alopecia, Pigmentary retinopathy, Recurrent pneumonia, Decreased response to growth ho...	OMIM:203800
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Eczematoid dermatitis, Failure to thrive, Obesity, Thick eyebrow, Abnormality of the pineal gland...	ORPHA:369950
Immunodeficiency 67	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:607676
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Erythema, Cerebral edema	OMIM:618321
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Short distal phalanx of finger, Small hand, Rhizomelia, Small for gestational age, Small nail, Cl...	OMIM:614813
2P15P16.1 Microdeletion Syndrome	Toe clinodactyly, Sparse eyebrow, Sandal gap, Fine hair, Supernumerary nipple, Camptodactyly of f...	ORPHA:261349
Colchicine Poisoning	Myocarditis, Alopecia	ORPHA:31824
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Thickened skin, Facial hypertrichosis, Hypopigmentation of the skin, Spl...	ORPHA:95159
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Splenomegaly, Skin rash, Lymphadenopathy, Erythema nodosum, Arthri...	OMIM:611762
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Erythema, Cerebral edema, Dry skin	OMIM:620510
Nablus Mask-Like Facial Syndrome	Highly arched eyebrow, Sparse eyebrow, Frontal upsweep of hair, Sparse eyelashes, Absent eyelashe...	OMIM:608156
Short Stature, Microcephaly, And Endocrine Dysfunction	Clinodactyly, Inguinal hernia, Cryptorchidism, Limb undergrowth, Acanthosis nigricans, Truncal ob...	OMIM:616541
Cushing Disease	Acne, Poor wound healing, Skin ulcer, Bruising susceptibility, Pituitary corticotropic cell adeno...	ORPHA:96253
Laron Syndrome	Short toe, Brachydactyly, Osteoarthritis, Truncal obesity, Prematurely aged appearance	ORPHA:633
Cushing Syndrome Due To Ectopic Acth Secretion	Poor wound healing, Abnormal lymph node morphology, Adrenal hyperplasia, Increased body weight, W...	ORPHA:99889
Bartsocas-Papas Syndrome 1	Small nail, Alopecia totalis, Dry skin, Absent eyelashes, Talipes equinovarus, Absent eyebrow, Ab...	OMIM:263650
Leigh Syndrome	Frontal hirsutism, Alopecia, Eczematoid dermatitis, Hypertrichosis	ORPHA:506
Bainbridge-Ropers Syndrome	Highly arched eyebrow, Hand clenching, Failure to thrive, Supernumerary nipple, Thin eyebrow, Lon...	OMIM:615485
Corneodermatoosseous Syndrome	Abnormal fingernail morphology, Erythema, Absent fingernail	ORPHA:3194
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Small nail, Elbow flexion contracture, Large for gestational age, Ichthyosis, Hip contracture, Kn...	OMIM:300868
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Aspiration pneumonia, Ichthyosis, Splenomegaly, Seborrheic dermatitis, Truncal obesity, Limb join...	OMIM:301072
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Skin ulcer, Subcutaneous hemorrhage, Abnormality of skin pigmentation, Purpura, Thin skin	ORPHA:743
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Erythema, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneou...	OMIM:147060
Felty Syndrome	Cellulitis, Bone marrow hypocellularity, Recurrent pneumonia, Irregular hyperpigmentation, Genera...	ORPHA:47612
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair	ORPHA:1974
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Sparse hair, Fine hair	ORPHA:251028
Bethlem Muscular Dystrophy	Ankle flexion contracture, Cigarette-paper scars, Interphalangeal joint contracture of finger, Ca...	ORPHA:610
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Alopecia, Premature graying of hair, Pterygium of nails, Ridged nail...	OMIM:305000
Melas	Erythema, Hypertrichosis	ORPHA:550
Noonan Syndrome	Webbed neck, Coarse hair, Bruising susceptibility, Abnormality of the spleen, Melanocytic nevus, ...	ORPHA:648
Selective Igm Deficiency	Cellulitis, Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Cutaneous abscess, Paraprotei...	ORPHA:331235
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Toenail dysplasia, Eczematoid dermatitis, Hirsutism, Sparse hair, Chronic otitis media, Synophrys	OMIM:300966
Hamamy Syndrome	Sparse eyebrow, Sparse lateral eyebrow, Abnormal number of hair whorls, Sparse eyelashes, Low pos...	OMIM:611174
Cerebellar-Facial-Dental Syndrome	Sparse eyebrow, Sparse hair, Fine hair	ORPHA:444072
Scleromyxedema	Thickened skin, Generalized abnormality of skin, Paraproteinemia, Aged leonine appearance, Prurit...	ORPHA:167635
Igg4-Related Ophthalmic Disease	Keratitis, Increased circulating IgE level, Increased circulating IgG4 level, Sialadenitis, Orchi...	ORPHA:449563
Ullrich Congenital Muscular Dystrophy 1A	Failure to thrive, Slender build, Increased laxity of fingers, Talipes equinovarus, Follicular hy...	OMIM:254090
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Warfarin-induced skin necrosis, Purpura, Abnormality of skin pigmentation, Thin skin	ORPHA:745
Down Syndrome	Sandal gap, Umbilical hernia, Prematurely aged appearance, Obesity, Abnormality of the lymphatic ...	ORPHA:870
Parkes Weber Syndrome	Skin ulcer, Abnormal femoral metaphysis morphology, Abnormal lymphatic vessel morphology, Promine...	ORPHA:90307
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Dry skin, Skin rash, Numerous pigmented freckles, Cachexia, Prematurely aged appearance, Cutaneou...	ORPHA:220295
Limited Cutaneous Systemic Sclerosis	Joint contracture of the hand, Foot joint contracture, Skin ulcer, Hypopigmented skin patches, Te...	ORPHA:220402
22Q11.2 Deletion Syndrome	Hypopigmented skin patches, Cryptorchidism, Arachnodactyly, Talipes equinovarus, Hypoparathyroidi...	ORPHA:567
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Skin rash, Splenomegaly, Weight loss, Lymphadenopathy, Pruritus	ORPHA:391
Autosomal Recessive Malignant Osteopetrosis	Abnormality of hair texture, Pallor, Otitis media, Chronic rhinitis	ORPHA:667
Goldberg-Shprintzen Syndrome	Highly arched eyebrow, Sparse hair, Thick eyebrow, Synophrys	OMIM:609460
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Pneumonia, Alopecia, Failure to thrive, Pyoderma, Nail dystrophy, ...	ORPHA:79404
Trichinellosis	Increased circulating IgE level, Conjunctivitis, Skin rash	ORPHA:863
Teebi-Shaltout Syndrome	Highly arched eyebrow, Sparse hair, Slow-growing hair, Low anterior hairline	OMIM:272950
Hypocomplementemic Urticarial Vasculitis	Irregular hyperpigmentation, Angioedema, Reduced circulating complement concentration, Episclerit...	ORPHA:36412
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology, Scarring, Abnormal mast cell morphology	ORPHA:398189
Adult-Onset Still Disease	Erythema, Joint swelling	ORPHA:829
Noonan Syndrome With Multiple Lentigines	Webbed neck, Multiple lentigines, Melanocytic nevus, Cryptorchidism, Excessive wrinkled skin, Fre...	ORPHA:500
Lateral Meningocele Syndrome	Coarse hair	OMIM:130720
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Clinodactyly, Decreased response to growth hormone stimulation test, Clinodactyly of ...	OMIM:614114
Autoimmune Hepatitis	Spider hemangioma, Inflammation of the large intestine, Vitiligo, Splenomegaly, Sclerosing cholan...	ORPHA:2137
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Decreased circulating antibody level, Splenomegaly, Fulminant he...	OMIM:308240
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Metaphyseal chondro...	ORPHA:163966
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Failure to thrive in infancy, Skin rash, Increased circulating IgA level, Lipodystrophy, Lymphade...	OMIM:617099
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Pilomatrixoma, Multinodular goiter, Lipoma, Hyperkeratosis, Hammertoe	OMIM:620189
Mandibuloacral Dysplasia Progeroid Syndrome	Sparse eyebrow, Sandal gap, Progeroid facial appearance, Decreased fibular diameter, Generalized ...	OMIM:619127
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Hepatosplenome...	OMIM:274000
Histiocytosis-Lymphadenopathy Plus Syndrome	Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Flexion contracture of fin...	OMIM:602782
Cranioectodermal Dysplasia 1	Short distal phalanx of finger, Rhizomelia, Short nail, Clinodactyly, Fine hair, Short toe, Radia...	OMIM:218330
Complement Component 5 Deficiency	Generalized seborrheic dermatitis, Reduced circulating CH50 activity, Decreased circulating compl...	OMIM:609536
Immunodeficiency 97 With Autoinflammation	Decreased circulating IgG level, Eczematoid dermatitis, Recurrent otitis media, Decreased circula...	OMIM:619802
Waardenburg Syndrome	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc...	ORPHA:3440
Mucopolysaccharidosis Type 3	Pigmentary retinopathy, Coarse hair, Recurrent tonsillitis, Umbilical hernia, Aspiration pneumoni...	ORPHA:581
Erythroderma Desquamativum	Seborrheic dermatitis, Failure to thrive	ORPHA:314
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short distal phalanx of finger, Cholelithiasis, Failure to thrive, Decreased testicular size, Thi...	OMIM:300534
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Recurrent sinusitis, L...	OMIM:613101
Adrenomyeloneuropathy	Frontal balding, Fine hair	ORPHA:139399
Mullerian Aplasia And Hyperandrogenism	Acne, Hirsutism	OMIM:158330
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Failure to thrive, Increased circulating antibody level	OMIM:615285
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Thickened skin, Bone marrow hypocellularity, Decreased circulating IgG level, Hypertrichosis, Lon...	ORPHA:505248
Xfe Progeroid Syndrome	Failure to thrive, Dry skin, Corneal scarring, Absence of subcutaneous fat, Cachexia, Enamel hypo...	OMIM:610965
Aggressive Systemic Mastocytosis	Abnormal mast cell morphology, Increased proportion of CD25+ mast cells, Hepatosplenomegaly, Hype...	ORPHA:98850
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Glomerulonephritis, Increased circulating antibody level	OMIM:247800
Kaufman Oculocerebrofacial Syndrome	Sparse eyebrow, Sparse hair, Thin skin	OMIM:244450
Phosphoribosylpyrophosphate Synthetase Superactivity	Sparse hair, Gout	OMIM:300661
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Highly arched eyebrow, Aspiration pneumonia, Abnormal fingernail morphology, Facial hirsutism, Lo...	ORPHA:444077
Cartilage-Hair Hypoplasia	Sparse eyebrow, Small hand, Rhizomelia, Micromelia, Abnormal diaphysis morphology, Failure to thr...	ORPHA:175
Chédiak-Higashi Syndrome	Iris hypopigmentation, Abnormality of neutrophil physiology, Hypopigmentation of the skin, Period...	ORPHA:167
Geroderma Osteodysplastica	Hernia, Prematurely aged appearance, Redundant skin, Thin skin	ORPHA:2078
Orofaciodigital Syndrome I	Sparse hair, Alopecia, Dry hair	OMIM:311200
Candidiasis, Familial, 8	Cheilitis, Seborrheic dermatitis, Blepharitis, Chronic oral candidiasis	OMIM:615527
Proteus Syndrome	Thickened skin, Finger syndactyly, Generalized hirsutism, Cachexia, Abnormal metacarpal morpholog...	ORPHA:744
Melnick-Needles Syndrome	Short distal phalanx of finger, Coarse hair, Failure to thrive, Flared metaphysis, Recurrent otit...	OMIM:309350
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Vitiligo, Follicular hyperplasia, Absent specific antibody response, Lymphadenopathy, Decreased c...	OMIM:619846
White-Sutton Syndrome	Broad thumb, Failure to thrive, Obesity, Congenital diaphragmatic hernia, Brachydactyly, Sparse hair	OMIM:616364
Majeed Syndrome	Acne, Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Splenomegaly, Pustu...	ORPHA:77297
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Recurrent aphthous stomatitis, Splenomegaly, Lymphadenopathy, Pyoderma gangr...	OMIM:150550
Chikungunya	Facial edema, Erythema, Petechiae, Joint swelling, Skin vesicle, Cutaneous photosensitivity, Peda...	ORPHA:324625
Vascular Ehlers-Danlos Syndrome	Periodontitis, Cryptorchidism, Excessive wrinkled skin, Talipes equinovarus, Abnormal eyelash mor...	ORPHA:286
Q Fever	Pneumonia, Hepatitis, Osteomyelitis, Hepatosplenomegaly, Splenomegaly, Cholecystitis, Increased c...	ORPHA:781
Cohen Syndrome	Finger syndactyly, Sandal gap, Failure to thrive in infancy, Long eyelashes, Thick eyebrow, Genu ...	ORPHA:193
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Arterial Tortuosity Syndrome	Avascular necrosis of the capital femoral epiphysis, Prematurely aged appearance, Redundant skin,...	ORPHA:3342
Simple Cryoglobulinemia	Nephritis, Monoclonal immunoglobulin M proteinemia, Cold urticaria, Vascular skin abnormality, Vi...	ORPHA:91139
Dyskeratosis Congenita, Autosomal Recessive 3	Bone marrow hypocellularity, Nail dystrophy, Abnormality of skin pigmentation	OMIM:613988
Leukocyte Adhesion Deficiency, Type Iii	Abnormal lymph node morphology, Hepatosplenomegaly, Splenomegaly, Petechiae, Recurrent skin infec...	OMIM:612840
C3 Glomerulopathy	Paraproteinemia, Decreased circulating complement C4 concentration, Lipodystrophy, Membranoprolif...	ORPHA:329918
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Recurrent otitis media, Genu valgum, Low posterior hairline,...	ORPHA:99413
Mosaic Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Genu valgum, Low posterior hairline,...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Genu valgum, Low posterior hairline,...	ORPHA:99226
Turner Syndrome	Inflammation of the large intestine, Recurrent otitis media, Genu valgum, Low posterior hairline,...	ORPHA:881
Cockayne Syndrome Type 2	Progeroid facial appearance, Cryptorchidism, Scarring, Enamel hypoplasia, Conjunctivitis, Flexion...	ORPHA:90322
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Bruising susceptibility, Pallor, Splenomegaly, Weight loss, Lymphade...	ORPHA:3226
Ras-Associated Autoimmune Leukoproliferative Disorder	Decreased lymphocyte apoptosis, Splenomegaly, Follicular hyperplasia, Increased circulating antib...	OMIM:614470
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Alopecia	ORPHA:2396
Phakomatosis Pigmentokeratotica	Patchy alopecia, Hyperhidrosis	ORPHA:2874
Sarcoidosis	Alopecia, Hypopigmentation of the skin, Enlarged lacrimal glands, Abnormal lymph node morphology,...	ORPHA:797
Myhre Syndrome	Thickened skin, Clinodactyly, Fine hair, Short toe, Short finger, Radial deviation of finger, Ove...	OMIM:139210
Kyphoscoliotic Ehlers-Danlos Syndrome	Atypical scarring of skin, Poor wound healing, Bruising susceptibility, Umbilical hernia, Inguina...	ORPHA:536545
Pearson Marrow-Pancreas Syndrome	Erythema, Hydrops fetalis, Pallor, Dehydration	OMIM:557000
Primary Sjögren Syndrome	Arteritis, Dry skin, Cutis marmorata, Increased circulating antibody level, Lymphocytic interstit...	ORPHA:289390
Cyclic Neutropenia	Cellulitis, Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Otitis media, Periana...	ORPHA:2686
Autosomal Recessive Robinow Syndrome	Short distal phalanx of finger, Alopecia, Toe syndactyly, Synostosis of carpal bones, Finger synd...	ORPHA:1507
Normosmic Congenital Hypogonadotropic Hypogonadism	Breast hypoplasia, Sparse body hair	ORPHA:432
Marfanoid-Progeroid-Lipodystrophy Syndrome	Bruising susceptibility, Progeroid facial appearance, Generalized lipodystrophy, Melanocytic nevu...	OMIM:616914
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Small hand, Decreased circulating IgA level, A...	OMIM:620005
6Q Terminal Deletion Syndrome	Highly arched eyebrow, Hyperkeratosis, Low anterior hairline	ORPHA:75857
Occipital Horn Syndrome	Humerus varus, Genu valgum, Esophagitis, Abnormal fibula morphology, Short palm, Jaundice, Atypic...	ORPHA:198
Toxic Epidermal Necrolysis	Erythema, Skin ulcer, Weight loss, Pancreatitis, Conjunctivitis, Acantholysis	ORPHA:537
Distal Deletion 12Q	Annular pancreas, Small nail, Fine hair, Broad hallux, Elbow flexion contracture, Failure to thri...	ORPHA:96149
Cranioectodermal Dysplasia 2	Sparse eyebrow, Rhizomelia, Recurrent pneumonia, Clinodactyly, Polysplenia, Inguinal hernia, Sple...	OMIM:613610
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Mediastinal lymphadenopathy	ORPHA:66661
Occipital Horn Syndrome	Pili torti, Redundant skin, Coarse hair	OMIM:304150
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Pseudomyxoma Peritonei	Hernia, Inflammation of the large intestine, Weight loss, Lymphadenopathy	ORPHA:26790
Noonan Syndrome 1	Webbed neck, Radial deviation of finger, Clinodactyly, Bruising susceptibility, Failure to thrive...	OMIM:163950
Autoinflammatory Disease, Systemic, With Vasculitis	Erythema, Periorbital edema, Jaundice, Hydrops fetalis, Purpura, Urticaria	OMIM:620376
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair	OMIM:619934
Adult-Onset Nemaline Myopathy	Paraproteinemia, Flexion contracture	ORPHA:171442
Coccidioidomycosis	Pneumonia, Atypical scarring of skin, Folliculitis, Pruritus, Morbilliform rash, Abnormality of t...	ORPHA:228123
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Cellulitis, Erythema, Uveitis, Erysipelas, Bruising susceptibility, Fasciitis, Skin rash, Splenom...	ORPHA:32960
Stevens-Johnson Syndrome	Erythema, Weight loss, Pancreatitis, Conjunctivitis, Acantholysis	ORPHA:36426
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Skin ulcer, Eczematoid dermatitis, Recurrent otitis media, Cutis mar...	OMIM:615688
Vipoma	Erythema, Subcutaneous lipoma, Ascites, Intermittent jaundice, Dehydration	ORPHA:97282
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Hepatosplenomegal...	OMIM:615122
Caffey Disease	Cortical thickening of long bone diaphyses, Cellulitis, Increased circulating antibody level	ORPHA:1310
Primary Myelofibrosis	Hepatosplenomegaly, Pallor, Petechiae, Splenomegaly, Ecchymosis, Cachexia, Lymphadenopathy, Purpura	ORPHA:824
Autosomal Dominant Robinow Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Finger syndactyly, Micromelia, Camptod...	ORPHA:3107
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Hepatosplenomeg...	OMIM:618935
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Erythema	OMIM:614653
Arterial Tortuosity Syndrome	Progeroid facial appearance, Bruising susceptibility, Umbilical hernia, Congenital diaphragmatic ...	OMIM:208050
Cholestasis-Lymphedema Syndrome	Splenomegaly, Abnormality of the lymphatic system, Multiple lipomas, Abnormality of skin pigmenta...	ORPHA:1414
Cockayne Syndrome Type 1	Pigmentary retinopathy, Foot joint contracture, Progeroid facial appearance, Failure to thrive, C...	ORPHA:90321
Hurler Syndrome	Abnormal diaphysis morphology, Camptodactyly of finger, Thick eyebrow, Splenomegaly, Generalized ...	ORPHA:93473
American Trypanosomiasis	Pallor, Splenomegaly, Skin rash, Infectious encephalitis, Lymphadenopathy, Myocarditis	ORPHA:3386
Coffin-Lowry Syndrome	Highly arched eyebrow, Coarse hair, Hyperconvex fingernails, Cutis marmorata, Thick eyebrow, Ingu...	OMIM:303600
Blau Syndrome	Posterior uveitis, Erythema, Keratitis, Skin ulcer, Camptodactyly of finger, Dry skin, Ichthyosis...	ORPHA:90340
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short distal phalanx of finger, Eczematoid dermatitis, Failure to thrive, Obesity, Redundant neck...	OMIM:617157
Postinfectious Vasculitis	Pneumonia, Bacterial endocarditis, Abnormality of humoral immunity, Palpable purpura, Inflammator...	ORPHA:48435
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Decreased testicular size, Genu valgum, Hypoplasia of the ovary, Generalized hypopigmen...	OMIM:619321
Neurocardiofaciodigital Syndrome	Sparse eyebrow, Sparse hair	OMIM:619869
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis	OMIM:618267
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Atypical scarring of skin, Periodontitis, Skin ulcer, Fine hair, Umbilical h...	ORPHA:534
Mevalonic Aciduria	Fluctuating splenomegaly, Failure to thrive, Failure to thrive in infancy, Morbilliform rash, Hep...	OMIM:610377
African Trypanosomiasis	Alopecia, Myelitis, Keratitis, Hepatosplenomegaly, Splenomegaly, Optic neuritis, Weight loss, Lym...	ORPHA:3385
Scorpion Envenomation	Pulmonary edema, Erythema, Purpura, Edema	ORPHA:466677
Adams-Oliver Syndrome 1	Alopecia, Small nail, Supernumerary nipple	OMIM:100300
Digeorge Syndrome	Cholelithiasis, Recurrent pneumonia, Parathyroid hypoplasia, Impaired T cell function, Umbilical ...	OMIM:188400
Warburg-Cinotti Syndrome	Erythema, Poor wound healing, Joint swelling, Thin skin	OMIM:618175
Cowden Syndrome	Palmoplantar keratoderma, Hypopigmented skin patches, Failure to thrive, Generalized hyperkeratos...	ORPHA:201
Familial Tumoral Calcinosis	Erythema	ORPHA:53715
Hyper-Igd Syndrome	Lymphadenitis, Molluscum contagiosum, Hepatosplenomegaly, Skin rash, Splenomegaly, Serositis, Inc...	OMIM:260920
Familial Papillary Or Follicular Thyroid Carcinoma	Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology	ORPHA:319487
Trichorhinophalangeal Syndrome, Type Ii	Recurrent pneumonia, Recurrent otitis media, Dry skin, Redundant skin in infancy, Thick eyebrow, ...	OMIM:150230
Inflammatory Pseudotumor Of The Liver	Weight loss, Increased hepatitis B virus antibody level	ORPHA:90003
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology	ORPHA:97290
Microphthalmia With Linear Skin Defects Syndrome	Erythema, Abnormality of the nail, Abnormal eyelash morphology	ORPHA:2556
Cockayne Syndrome Type 3	Dry hair, Premature graying of hair, Splenomegaly, Keratoconjunctivitis sicca, Enamel hypoplasia,...	ORPHA:90324
Familial Mediterranean Fever	Ascites, Erythema, Pedal edema	ORPHA:342
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Sandal gap, Radial deviation of finger, Proximal p...	ORPHA:3103
Hennekam Syndrome	Erysipelas, Finger syndactyly, Camptodactyly of finger, Lymphangioma, Splenomegaly, Sparse axilla...	ORPHA:2136
Transketolase Deficiency	Conjunctivitis, Seborrheic dermatitis, Uveitis	ORPHA:488618
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Fail...	ORPHA:83471
Legionnaires Disease	Cellulitis, Bone marrow hypocellularity, Hepatitis, Splenomegaly, Infectious encephalitis, Pancre...	ORPHA:549
Interstitial Lung Disease 2	Increased circulating antibody level, Clubbing of fingers	OMIM:178500
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Hypoplastic fingernail, Abnormal dental enamel morphology, Hyperconvex fingern...	ORPHA:2658
Ring Chromosome 13 Syndrome	Alopecia, Aplasia/hypoplasia involving bones of the hand, Aplasia/Hypoplasia of the thumb, Partia...	ORPHA:96176
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Hepatosplenomegaly, Petechiae, Weight loss, Lymphadenopathy, Abno...	ORPHA:85450
Mednik Syndrome	Erythema	OMIM:609313
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Bifid femur, Broad distal phalanx of finger, Micromelia, Thin eyebrow, Abnormal distal ...	ORPHA:2636
Pneumocystosis	Interstitial pneumonitis, Increased circulating antibody level, Weight loss, Acute infectious pne...	ORPHA:723
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Sparse eyebrow, Absent nipple, Small nail, Clinodactyly, Broad hallux, Nail dystrophy, Hypoplasti...	OMIM:620186
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Skin rash, Lymphadenopathy, Arthritis, Juvenile rheumatoid arthritis, Pericarditis,...	ORPHA:85414
Degcags Syndrome	Toe syndactyly, Premature graying of hair, Hepatosplenomegaly, Genu valgum, Cryptorchidism, Low p...	OMIM:619488
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Nail dysplasia, Sparse hair	OMIM:616682
Liver Disease, Severe Congenital	Pneumonia, Dry hair, Eczematoid dermatitis, Failure to thrive, Umbilical hernia, Pancreatic hypop...	OMIM:619991
Immunodeficiency 55	Eczematoid dermatitis, Dry skin, Ichthyosis, Lymphadenopathy, Recurrent skin infections	OMIM:617827
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Failure to thrive, Decreased circulating IgA level, Sinusitis, Increased circulating I...	OMIM:242860
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Atopic dermatitis, Pneumonia, Hepatitis, Skin rash, Chilblains, Increased cir...	OMIM:615846
Cystic Echinococcosis	Abnormality of the testis size, Splenic cyst, Ovarian cyst, Increased circulating antibody level,...	ORPHA:400
Coffin-Siris Syndrome 1	Facial hypertrichosis, Dry hair, Sparse scalp hair, Hypoplastic fifth fingernail, Cutis marmorata...	OMIM:135900
Hemophagocytic Lymphohistiocytosis, Familial, 2	Failure to thrive, Hepatosplenomegaly, Skin rash, Splenomegaly, Infectious encephalitis, Lymphade...	OMIM:603553
Cutis Laxa, Autosomal Dominant 1	Poor wound healing, Progeroid facial appearance, Redundant skin, Inguinal hernia, Uterine prolaps...	OMIM:123700
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hyperplasia, W...	OMIM:619381
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Kanzaki Disease	Dry skin, Petechiae, Telangiectasia of the oral mucosa, Angiokeratoma corporis diffusum, Lip tela...	OMIM:609242
Witteveen-Kolk Syndrome	Small hand, Toe syndactyly, Clinodactyly, Overlapping toe, Glue ear, Congenital diaphragmatic her...	OMIM:613406
Angiostrongyliasis	Increased circulating specific IgE antibody, Increased circulating IgA level, Increased circulati...	ORPHA:74
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Juvenile rheumatoid arthritis, Vitiligo,...	OMIM:607944
Pallister-Killian Syndrome	Hyperpigmented streaks, Small hand, Postaxial foot polydactyly, Sparse scalp hair, Supernumerary ...	OMIM:601803
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Glomerulonephritis	OMIM:314000
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Highly arched eyebrow, Frontal balding, Long lower eyelashes, Palmoplantar erythema, Synophrys	OMIM:612474
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal circulating interleukin concentration, Chronic mucocutaneous candidiasis, Absence of lym...	ORPHA:79124
Zttk Syndrome	Broad eyebrow, Sparse eyebrow, Curly hair	OMIM:617140
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Erlenmeyer flask deformity of the femurs, Bruising susceptibi...	ORPHA:77259
Burkitt Lymphoma	Abnormality of the ovary, Abnormality of the spleen, Abnormal lymph node morphology	ORPHA:543
Systemic Mastocytosis With Associated Hematologic Neoplasm	Abnormal mast cell morphology, Pallor, Splenomegaly, Weight loss, Lymphadenopathy, Pruritus, Flus...	ORPHA:98849
Urachal Cyst	Erythema	ORPHA:488
Chilton-Okur-Chung Neurodevelopmental Syndrome	Highly arched eyebrow, Sparse eyebrow, Sparse lateral eyebrow, Recurrent otitis media, Long eyela...	OMIM:619841
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Sparse axillary hair, Sparse pubic hair, Sparse body hair	ORPHA:90796
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Bruising susceptibility, Umbilical hernia, Atrophic scars, Inguinal hernia, Talipes equinovarus, ...	OMIM:614557
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Morgagni diaphragmatic hernia, Recurrent pneumonia, Sandal gap, Progeroid facia...	OMIM:613177
Campomelia, Cumming Type	Clubbing of toes, Micromelia, Pancreatic cysts, Bowing of the long bones, Brachydactyly, Prematur...	ORPHA:1318
Saul-Wilson Syndrome	Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Progeroid facial appearance, ...	OMIM:618150
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level	OMIM:202700
Glucagonoma	Ascites, Necrolytic migratory erythema, Subcutaneous lipoma, Intermittent jaundice	ORPHA:97280
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Cellulitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Cellulitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom...	OMIM:233710
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Enlarged tonsils,...	OMIM:616005
Zollinger-Ellison Syndrome	Erythema, Jaundice	ORPHA:913
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Cellulitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom...	OMIM:233690
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level	ORPHA:206594
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cellulitis, Inflammation of the large intestine, Recurrent pneumonia, Failure to thrive, Cervical...	OMIM:617718
Alveolar Echinococcosis	Cutaneous abscess, Increased circulating antibody level, Abnormal spleen morphology, Weight loss,...	ORPHA:284
Multiple Endocrine Neoplasia Type 4	Erythema, Subcutaneous lipoma	ORPHA:276152
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Immunodeficiency 31C	Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Decreased lymphocyte proliferation in r...	OMIM:614162
Fabry Disease	Abnormal femur morphology, Angiokeratoma, Conjunctival telangiectasia, Telangiectasia of the skin...	ORPHA:324
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the skin, Telangiectasia of the oral mucosa, Angiokeratoma corporis diffusum, L...	ORPHA:79280
Common Variable Immunodeficiency	Pneumonia, Bronchiectasis, Failure to thrive in infancy, Splenomegaly, Otitis media, Lymphadenopa...	ORPHA:1572
Steinert Myotonic Dystrophy	Alopecia, Early balding	ORPHA:273
Classical Ehlers-Danlos Syndrome	Poor wound healing, Bruising susceptibility, Cigarette-paper scars, Umbilical hernia, Striae dist...	ORPHA:287
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Recurrent otitis media, Recurrent a...	OMIM:301078
Primary Biliary Cholangitis	Dermatographic urticaria, Hepatitis, Pruritus, Splenomegaly, Hyperpigmentation of the skin, Incre...	ORPHA:186
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Hepatosplenomegaly, Abnormal metatarsal morphology, Abnormal metacarpophalang...	ORPHA:85408
Fanconi Anemia, Complementation Group A	Absent thumb, Short thumb, Bruising susceptibility, Cryptorchidism, Anemic pallor, Abnormality of...	OMIM:227650
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Inflammation of the large intestine, Bronchiectasis, Abnormality of T c...	OMIM:181000
Primary Sclerosing Cholangitis	Neoplasm of the gallbladder, Spider hemangioma, Cholelithiasis, Palmar telangiectasia, Hepatitis,...	ORPHA:171
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Cellulitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom...	OMIM:306400
Branchioskeletogenital Syndrome	Highly arched eyebrow, Absent nipple, Periorbital wrinkles, Umbilical hernia, Upper limb peromeli...	ORPHA:1299
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Small for gestational age, Absent thumb, Short thumb, Bruising susce...	OMIM:227646
Ebola Hemorrhagic Fever	Maculopapular exanthema, Acute pancreatitis, Hepatitis, Increased circulating antibody level	ORPHA:319218
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Weight loss, Abnormal testis morphology, Abnormality of the lymphatic system, Abnormal lymph node...	ORPHA:54251
Ataxia-Telangiectasia-Like Disorder 2	Progeroid facial appearance, Cutaneous telangiectasia, Congenital diaphragmatic hernia, Conjuncti...	OMIM:615919
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Slender finger, Small hand, Depigmentation/hyperpigmentation of skin, Hypertrichosis, Overlapping...	ORPHA:480880
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Branchiooculofacial Syndrome	Atypical scarring of skin, Short thumb, Supernumerary nipple, Premature graying of hair, Hypoplas...	OMIM:113620
Chromosome Xp11.3 Deletion Syndrome	Pigmentary retinopathy, Progeroid facial appearance, Cryptorchidism	OMIM:300578
Keppen-Lubinsky Syndrome	Recurrent pneumonia, Progeroid facial appearance, Failure to thrive, Generalized lipodystrophy, A...	OMIM:614098
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Failure to thrive, Decreased lymphocyte proliferation in response to...	OMIM:600802
Gaucher Disease	Splenic infarction, Cholelithiasis, Hepatitis, Osteomyelitis, Ichthyosis, Splenomegaly, Increased...	ORPHA:355
Congenital Analbuminemia	Obesity, Lipodystrophy, Small for gestational age, Increased circulating antibody level	ORPHA:86816
Xeroderma Pigmentosum, Complementation Group B	Pigmentary retinopathy, Cutaneous photosensitivity, Progeroid facial appearance, Freckling	OMIM:610651
Adult Idiopathic Neutropenia	Recurrent aphthous stomatitis, Increased circulating IgM level	ORPHA:2688
Crimean-Congo Hemorrhagic Fever	Acute pancreatitis, Spontaneous hematomas, Parotitis, Morbilliform rash, Splenomegaly, Cholecysti...	ORPHA:99827
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Increased circulating IgG4 level, A...	ORPHA:79078
Menke-Hennekam Syndrome 1	Long eyelashes, Sparse hair, Thick eyebrow	OMIM:618332
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Sparse eyebrow, Absent thumb, Failure to thrive in infancy, Secr...	ORPHA:500150
Baller-Gerold Syndrome	Erythema	OMIM:218600
Rift Valley Fever	Hepatitis, Skin rash, Infectious encephalitis, Jaundice, Increased circulating IgG level, Increas...	ORPHA:319251
Al Amyloidosis	Abnormal salivary gland morphology, Weight loss, Bruising susceptibility, Increased circulating a...	ORPHA:85443
Marburg Hemorrhagic Fever	Uveitis, Bruising susceptibility, Skin rash, Petechiae, Increased circulating antibody level, Orc...	ORPHA:99826
Castleman Disease	Follicular hyperplasia, Generalized lymphadenopathy, Weight loss, Lymphadenopathy, Increased circ...	ORPHA:160
Japanese Encephalitis	Elbow flexion contracture, Infectious encephalitis, Increased circulating antibody level, Talipes...	ORPHA:79139
Roberts-Sc Phocomelia Syndrome	Finger aplasia, Ankle flexion contracture, Accessory spleen, Absent thumb, Clinodactyly, Radial d...	OMIM:268300
Behçet Disease	Recurrent aphthous stomatitis, Splenomegaly, Orchitis, Increased inflammatory response, Myositis,...	ORPHA:117
Williams Syndrome	Cholelithiasis, Umbilical hernia, Abnormal fingernail morphology, Abnormal dental enamel morpholo...	ORPHA:904
Lassa Fever	Conjunctivitis, Jaundice, Increased circulating IgM level	ORPHA:99824
Multiple Myeloma	Splenomegaly, Increased circulating IgA level, Weight loss, Lymphadenopathy, Increased circulatin...	ORPHA:29073
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Inflammation of the large intestine, Pruritus, Interface hepatitis, Sclerosing cholangitis, Granu...	ORPHA:562639
Cerebrotendinous Xanthomatosis	Cholelithiasis, Abnormal tibia morphology, Abnormal femur morphology, Prolonged neonatal jaundice...	ORPHA:909
Pseudoxanthoma Elasticum	Cutis laxa, Civatte bodies	OMIM:264800
Tubulointerstitial Nephritis And Uveitis Syndrome	Posterior uveitis, Chorioretinal scar, Nongranulomatous uveitis, Panuveitis, Skin rash, Abnormali...	ORPHA:91500
Primrose Syndrome	Short distal phalanx of finger, Sparse body hair, Bilateral cryptorchidism, Genu valgum, Cryptorc...	OMIM:259050
Lymphangioleiomyomatosis	Ungual fibroma, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopa...	ORPHA:538
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Failure to thrive, Decreased response to growth hormone stimulat...	ORPHA:470
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level	ORPHA:99965
Alström Syndrome	Testicular fibrosis, Frontal balding, Hepatosplenomegaly, Polycystic ovaries, Glomerulonephritis,...	ORPHA:64
Pancreatoblastoma	Pancreatic calcification, Jaundice, Weight loss, Abnormal lymph node morphology	ORPHA:677
Encephalitis Lethargica	Increased circulating antibody level	ORPHA:83600
Tick-Borne Encephalitis	Increased circulating IgG level, Myelitis, Increased circulating IgM level, Abnormal circulating ...	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	Increased anti-parasite IgE antibody level, Infectious encephalitis, Iridocyclitis, Increased cir...	ORPHA:1560
Gaucher Disease Type 3	Splenomegaly, Increased circulating antibody level	ORPHA:77261
Yellow Fever	Pancreatic hyperplasia, Skin rash, Increased circulating interleukin 6 concentration, Jaundice, I...	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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