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Gene: Pkp3 MGI:1891830

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
plakophilin 3
Synonyms:
2310056L12Rik

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 Pkp3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pkp3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypotrichosis 6
Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sp... OMIM:607903
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Allergic rhinitis, Absent facial h... ORPHA:90368
Hidrotic Ectodermal Dysplasia
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... ORPHA:189
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Sparse pubic hair, Perifollicular hy... ORPHA:505
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Generalized keratosis follicula... ORPHA:2890
Monilethrix
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... ORPHA:573
Erythrokeratodermia Variabilis Et Progressiva 5
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis OMIM:617756
Trichothiodystrophy 7, Nonphotosensitive
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... OMIM:618546
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... OMIM:104100
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Erythem... ORPHA:346
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera... ORPHA:2722
Monilethrix
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... OMIM:158000
Bathing Suit Ichthyosis
Alopecia, Parakeratosis, Thickened skin, Palmoplantar hyperkeratosis, Hypohidrosis, Ichthyosis, P... ORPHA:100976
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital ichthyosiform erythr... OMIM:242300
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy... OMIM:615821
Erythrokeratodermia Variabilis
Alopecia, Skin rash, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis, Weig... ORPHA:317
Erosive Pustular Dermatosis Of The Scalp
Pustule, Scarring alopecia of scalp, Erythema, Abnormal hair morphology ORPHA:222
Netherton Syndrome
Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Allergic rhinitis, Ecz... OMIM:256500
Classic Mycosis Fungoides
Alopecia, Skin rash, Eczema, Pruritus, Splenomegaly, Erythema, Skin ulcer, Lymphadenopathy, Hyper... ORPHA:2584
Olmsted Syndrome 2
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... OMIM:619208
Kerion Celsi
Recurrent cutaneous abscess formation, Alopecia, Inflammatory abnormality of the skin, Recurrent ... ORPHA:499
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hypohidros... OMIM:602400
Moynahan Syndrome
Sparse hair, Hyperkeratosis, Alopecia, Cachexia ORPHA:2574
Anonychia With Flexural Pigmentation
Macular telangiectasia, Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular h... ORPHA:69125
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema, Palmoplantar keratoderma, Hypertrichosis OMIM:617524
Olmsted Syndrome 1
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... OMIM:614594
Keratoderma Hereditarium Mutilans With Ichthyosis
Alopecia, Parakeratosis, Scaling skin on fingertip, Hypergranulosis, Palmoplantar hyperkeratosis,... ORPHA:79395
Ectodermal Dysplasia 4, Hair/Nail Type
Absent eyebrow, Alopecia, Brittle hair, Hair-nail ectodermal dysplasia, Absent eyelashes, Onychol... OMIM:602032
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Trichodysplasia-Xeroderma Syndrome
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... ORPHA:3361
Insulin-Resistance Syndrome Type A
Hyperkeratosis, Generalized hirsutism ORPHA:2297
Palmoplantar Keratoderma And Congenital Alopecia 2
Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N... OMIM:212360
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa... OMIM:129500
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti ORPHA:1573
Ichthyosis, Annular Epidermolytic, 1
Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Congenital b... OMIM:607602
Alopecia Areata 2
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis OMIM:610753
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... OMIM:601952
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... OMIM:225060
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hy... OMIM:300918
Ulerythema Ophryogenesis
Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermat... ORPHA:3406
Candidiasis, Familial, 1
Alopecia, Chronic mucocutaneous candidiasis OMIM:114580
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Hyperkeratosis, Coarse hair, Sparse hair, Hidrotic ectodermal dysplasia ORPHA:1883
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering... ORPHA:158681
Hypotrichosis 1
Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai... OMIM:605389
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections, Abnormal hair morphology ORPHA:345
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy OMIM:616487
Peeling Skin Syndrome 3
Pruritus, Erythema, Abnormal hair morphology, White scaling skin OMIM:616265
Witkop Syndrome
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair OMIM:189500
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa... OMIM:617294
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Perifolliculitis, Alopecia of scalp OMIM:260910
Pili Torti
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... ORPHA:2889
Hypotrichosis 4
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair OMIM:146550
Hypotrichosis Simplex
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair ORPHA:55654
Hypertrichosis Lanuginosa Congenita
Congenital, generalized hypertrichosis, Double eyebrow OMIM:145700
Bazex Syndrome
Parakeratosis, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, ... ORPHA:166113
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Crandall Syndrome
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:202
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Congenital Ichthyosiform Erythroderma
Alopecia, Keratitis, Pruritus, Hypohidrosis, Ichthyosis, Palmoplantar keratoderma, Erythroderma, ... ORPHA:79394
Hair Defect With Photosensitivity And Mental Retardation
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair, Cutaneous photosensitivity OMIM:234030
Hypotrichosis 11
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... OMIM:615059
Atrichia With Papular Lesions
Sparse hair, Generalized papillary lesions OMIM:209500
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Hair-nail ectodermal dysplasia, Thin toenail, Sparse hair, Dystrophic toenail OMIM:614928
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia Universalis Congenita
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis OMIM:203655
Parana Hard Skin Syndrome
Hyperkeratosis, Generalized hirsutism, Thickened skin ORPHA:2812
Trichothiodystrophy 6, Nonphotosensitive
Brittle hair, Small for gestational age, Slow-growing hair, Ichthyosis, Tiger tail banding, Dry skin OMIM:616943
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I... ORPHA:79503
Hypotrichosis 10
Sparse eyebrow, Sparse eyelashes, Sparse body hair OMIM:614238
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Pruritus, Sparse eyebrow, Splenomegaly, Ja... OMIM:607626
Ichthyosis-Hypotrichosis Syndrome
Sparse hair, Ichthyosis ORPHA:91132
Alopecia Areata 1
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis OMIM:104000
Peeling Skin Syndrome 1
Brittle hair, Pruritus, Onycholysis, Nail dystrophy, Palmoplantar hyperhidrosis, Erythroderma, Sc... OMIM:270300
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Ichthyosis With Confetti
Pruritus, Palmoplantar hyperkeratosis, Ichthyosis, Hypoplastic nipples, Congenital nonbullous ich... OMIM:609165
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Pruritus, Dermatographic urticaria, Generalized ichthyosis, Follicular hyperke... OMIM:608649
Trichothiodystrophy 1, Photosensitive
Brittle hair, Trichoschisis, Small for gestational age, Fine hair, Telangiectasia, Hyperkeratosis... OMIM:601675
Trichodental Dysplasia
Sparse hair, Brittle hair, Slow-growing hair, Fine hair OMIM:601453
Alopecia Universalis
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis ORPHA:701
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Plantar hyperkeratosis, Cutaneous photosensitivity, Skin fragility with non-scarring bl... ORPHA:79397
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal fingernail morphology, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosi... ORPHA:89838
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Hypotrichosis 7
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... OMIM:604379
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Ectodermal Dysplasia 13, Hair/Tooth Type
Brittle hair, Sparse eyelashes, Low anterior hairline, Ectodermal dysplasia, Thin eyebrow OMIM:617392
Porokeratosis 3, Multiple Types
Parakeratosis, Porokeratosis, Nail dystrophy OMIM:175900
Angioma Serpiginosum, X-Linked
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair OMIM:300652
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair, Palmoplantar keratoderma OMIM:610476
Lamellar Ichthyosis
Pruritus, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Sparse hair, Erythroderma, Chronic... ORPHA:313
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Hair-nail ectodermal dysplasia, Abno... OMIM:614929
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Brittle hair, Prematurely aged appearance, Redundant skin, A... ORPHA:2963
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Cholangitis, Pustule, Erythema, Oligoarthritis, Nail dyst... OMIM:614204
Ichthyosis, Congenital, Autosomal Recessive 2
Anhidrosis, Alopecia, Thin nail, Hypergranulosis, Abnormal hair morphology, Erythema, Hypohidrosi... OMIM:242100
Uncombable Hair Syndrome 2
Uncombable hair, Pili canaliculi OMIM:617251
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Urticaria, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis ... ORPHA:2251
Trichohepatoenteric Syndrome 2
Brittle hair, Small for gestational age, Chronic hepatitis, Colitis, Uncombable hair, Sparse hair... OMIM:614602
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... ORPHA:2891
L-Ferritin Deficiency
Alopecia OMIM:615604
Björnstad Syndrome
Alopecia, Brittle hair ORPHA:123
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythem... OMIM:612843
Sézary Syndrome
Alopecia, Pruritus, Splenomegaly, Lymphadenopathy, Palmoplantar keratoderma, Nail dystrophy, Eryt... ORPHA:3162
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Sparse hair, Reduced terminal:vellus ratio, Pili torti OMIM:601553
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery... ORPHA:64745
Parc Syndrome
Absent eyelashes, Absent eyebrow, Alopecia OMIM:600331
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ... ORPHA:79151
Transgrediens Et Progrediens Palmoplantar Keratoderma
Recurrent bacterial skin infections, Plantar hyperkeratosis, Hyperconvex nail, Angular cheilitis,... ORPHA:495
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Failure to thrive, Alopecia, Brittle hair ORPHA:50812
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis, Nail dystrophy OMIM:131850
Vulvovaginal Gingival Syndrome
Pruritus, Ridged nail, Parakeratosis, Erythema ORPHA:83453
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Ectodermal Dysplasia 9, Hair/Nail Type
Concave nail, Absent eyelashes, Ectodermal dysplasia, Atrichia, Nail dystrophy, Nail dysplasia, S... OMIM:614931
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Skin fragility with non-scarring blistering, Na... ORPHA:79399
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Facial erythema, Follicu... OMIM:308800
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Sparse hair, Widow's peak, Atopic dermatitis, Thick eyebrow OMIM:606242
Trichothiodystrophy 5, Nonphotosensitive
Brittle hair, Slow-growing hair, Cutis marmorata, Progeroid facial appearance, Sparse eyebrow, Re... OMIM:300953
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia univers... ORPHA:1008
Rothmund-Thomson Syndrome, Type 1
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Sparse hair, Nail dystrophy, Recurre... OMIM:618625
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, Nail pits, Congenital alopecia totalis ORPHA:169095
Thumb Deformity And Alopecia
Alopecia OMIM:188150
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Ectodermal dysplasia, Palmoplantar k... OMIM:224750
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Alopecia totalis, Abnormality of the nail OMIM:302000
Netherton Syndrome
Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology,... ORPHA:634
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Odontoonychodermal Dysplasia
Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Hyperhidrosis, Dystrophic fingernails, Thin n... OMIM:257980
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Ectoderm... OMIM:613573
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar hyperkeratosis, Palmoplant... OMIM:605676
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Hypohidrosis, Palmoplan... OMIM:618535
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Ectodermal dysplasia, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperke... OMIM:615225
Ectodermal Dysplasia-Syndactyly Syndrome 2
Hyperhidrosis, Ectodermal dysplasia, Palmoplantar keratoderma, Follicular hyperkeratosis, Congeni... OMIM:613576
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Concave nail, Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, ... ORPHA:530838
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Recurrent loss of toenails and fingernails, Crusting erythematous dermatitis, Erythema, Palmoplan... ORPHA:158673
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Alopecia, Inflammatory abnormality of the skin, Lack of faci... ORPHA:90156
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Prolidase Deficiency
Abnormal fingernail morphology, Pruritus, Splenomegaly, Crusting erythematous dermatitis, Low ant... ORPHA:742
Bjornstad Syndrome
Anhidrosis, Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular int... OMIM:262000
Aredyld
Ectodermal dysplasia, Generalized hypotrichosis OMIM:207780
Alopecia-Intellectual Disability Syndrome 4
Ichthyosis, Alopecia, Erythroderma OMIM:618840
Schöpf-Schulz-Passarge Syndrome
Alopecia, Ectodermal dysplasia, Palmoplantar keratoderma, Facial telangiectasia, Sparse hair, Apl... ORPHA:50944
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... OMIM:615508
Keratoderma Hereditarium Mutilans
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor... ORPHA:494
Axin2-Related Attenuated Familial Adenomatous Polyposis
Sparse hair, Ectodermal dysplasia ORPHA:401911
Flynn-Aird Syndrome
Hyperkeratosis, Alopecia, Alopecia of scalp OMIM:136300
Porphyria Cutanea Tarda
Alopecia, Onycholysis, Facial hypertrichosis, Scleroderma, Cutaneous photosensitivity, Fragile skin OMIM:176100
Carvajal Syndrome
Woolly hair, Patchy palmoplantar hyperkeratosis ORPHA:65282
Trichothiodystrophy 3, Photosensitive
Brittle hair, Congenital ichthyosiform erythroderma, Cutaneous photosensitivity, Congenital nonbu... OMIM:616395
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker... ORPHA:2897
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, No... ORPHA:87503
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Hypohidrosis, Abno... ORPHA:248
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Cachexia, Abnormal hair morphology, Thickened skin, Lack of ... ORPHA:1979
Trichothiodystrophy 4, Nonphotosensitive
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Keratoconjunctivitis s... OMIM:234050
Menkes Disease
Sparse hair, Alopecia, Brittle hair, Cutis laxa OMIM:309400
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Patchy alopecia, Thickened skin OMIM:247100
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis, Onycho... ORPHA:525
Ectodermal Dysplasia/Skin Fragility Syndrome
Absent eyebrow, Anhidrosis, Absent eyelashes, Palmoplantar hyperkeratosis, Ectodermal dysplasia, ... OMIM:604536
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Hypohidrotic ectodermal dysplasia, Sparse ... OMIM:614940
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... ORPHA:454
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Alopecia, Ichthyosis, Palmoplantar keratoderma, Conjunctivitis, Erythroderma, Sparse hair, Failur... OMIM:242150
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Anhidrosis, Alopecia, Abnormal fingernail morphology, Thickened skin, Erythema, Skin ulcer, Palmo... ORPHA:659
Omenn Syndrome
Alopecia, Pneumonia, Pruritus, Thickened skin, Splenomegaly, Thyroiditis, Dry skin, Lymphadenopat... ORPHA:39041
Cortisone Reductase Deficiency 1
Alopecia, Acne, Obesity, Hirsutism OMIM:604931
Sting-Associated Vasculopathy, Infantile-Onset
Nailfold capillary tortuosity, Myositis, Failure to thrive, Skin rash, Cutis marmorata, Follicula... OMIM:615934
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Tooth Agenesis, Selective, 8
Sparse eyebrow, Dry skin, Sparse hair OMIM:617073
Palmoplantar Keratoderma And Woolly Hair
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... OMIM:616099
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:617525
Acrokeratosis Verruciformis
Ridged nail, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Acrokeratosis OMIM:101900
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Ectode... OMIM:129490
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern... ORPHA:79147
Oliver-Mcfarlane Syndrome
Alopecia, Small for gestational age, Long eyebrows, Long eyelashes, Sparse hair OMIM:275400
Naxos Disease
Sparse scalp hair, Curly hair, Abnormality of hair texture, Hyperhidrosis, Palmoplantar keratoder... ORPHA:34217
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fragile nails, Fine hair ORPHA:500166
Pili Torti, Early-Onset
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... OMIM:261900
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... OMIM:117850
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Hyperhidrosis, Perioral erythema, Ichthyosis, Frag... OMIM:248300
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno... ORPHA:129
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Alopecia, Coarse hair, Brittle hair, Nail dystrophy ORPHA:75389
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Co... OMIM:612281
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Cronkhite-Canada Syndrome
Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Splenomegaly, Dystrophi... ORPHA:2930
Keratosis Pilaris Atrophicans
Absent eyelashes, Erythema, Sparse eyebrow OMIM:604093
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... ORPHA:1809
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Alopecia, Nail dystrophy, Nail pits OMIM:601705
Pachyonychia Congenita
Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyp... ORPHA:2309
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Cutis Laxa, Autosomal Recessive, Type Iia
Brittle hair, Redundant skin, Abnormality of hair texture, Cutis laxa, Excessive wrinkled skin, C... OMIM:219200
Hypotrichosis And Recurrent Skin Vesicles
Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu... OMIM:613102
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop... ORPHA:79153
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... OMIM:617571
Trichodermodysplasia-Dental Alterations Syndrome
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Palmoplantar keratoderma,... ORPHA:3353
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Erythema, Cheilitis, Ski... ORPHA:37
Atrophoderma Vermiculata
Pruritus, Erythema, Hyperkeratotic papule, Follicular hyperkeratosis ORPHA:79100
Cardiofaciocutaneous Syndrome
Brittle hair, Slow-growing hair, Failure to thrive in infancy, Redundant skin, Abnormal eyelash m... ORPHA:1340
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Nail dysplasia, Erysipelas OMIM:615704
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... ORPHA:1808
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Cutaneous photosensitivity, Porokeratosis ORPHA:735
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, Nail dystrophy, Ichthyosis, Sparse hair, Tiger tail banding OMIM:619692
Darier Disease
Acrokeratosis, Pruritus, Abnormal hair morphology, Thickened skin, Palmoplantar keratoderma, Skin... ORPHA:218
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy ORPHA:89843
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Sparse hair, Alopecia, Long eyelashes, Small for gestational age ORPHA:3363
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythrode... ORPHA:312
Syndromic X-Linked Intellectual Disability 7
Sparse body hair, Obesity ORPHA:85274
Jaberi-Elahi Syndrome
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Failure to thrive OMIM:617988
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dystrophy, Anonychia, Sparse body hair ORPHA:79402
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... ORPHA:284426
Copper Deficiency, Familial Benign
Curly hair, Failure to thrive, Early balding, Seborrheic dermatitis OMIM:121270
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis OMIM:173200
Bazex-Dupre-Christol Syndrome
Eczema, Trichorrhexis nodosa, Atopic dermatitis, Hypohidrosis, Coarse hair, Sparse hair, Trichoep... OMIM:301845
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Failure to thrive, Brittle hair, Cutis marmorata, Pancreatitis OMIM:236200
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Sparse hair, Abnormal toenail morphology, Sparse body hair, Aplasia/... ORPHA:1818
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Anhidrosis, Brittle hair, Absent nipple, Eczema, Sparse eyelashes, Concave nail, ... OMIM:305100
Pseudoprogeria Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Decreased body weight, Sparse hair, F... ORPHA:2985
Incontinentia Pigmenti
Ridged nail, Alopecia, Maculopapular exanthema, Supernumerary nipple, Keratitis, Erythema, Uveiti... OMIM:308300
Epidermolysis Bullosa, Junctional 1A, Intermediate
Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails, Palmar hyperhidrosis OMIM:226650
Brachycephaly, Trichomegaly, And Developmental Delay
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow OMIM:617412
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Thickened skin, Fine hair, Lymphadenopathy... ORPHA:2221
Marie Unna Hereditary Hypotrichosis
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... ORPHA:444
Erythrokeratodermia Variabilis Et Progressiva 4
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... OMIM:617526
Ifap Syndrome 2
Ichthyosis follicularis, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctiviti... OMIM:619016
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Dry skin, Hyper... OMIM:610768
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Palmoplantar keratoderma, Alopecia totalis, Lack of skin elasticity ORPHA:1366
Pachyonychia Congenita 2
Sparse scalp hair, Subungual hyperkeratosis, Dry hair, Angular cheilitis, Sparse eyebrow, Palmopl... OMIM:167210
Ramon Syndrome
Hyperkeratosis, Failure to thrive, Telangiectasia of the skin, Generalized hirsutism ORPHA:3019
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Fine hair ORPHA:1174
Flynn-Aird Syndrome
Alopecia, Skin ulcer, Cachexia ORPHA:2047
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Hypohidrosis, Dystrophic fingernails, Dys... ORPHA:1882
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Fibrodysplasia Ossificans Progressiva
Alopecia, Failure to thrive ORPHA:337
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s... OMIM:617337
Focal Facial Dermal Dysplasia 3, Setleis Type
Aged leonine appearance, Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis OMIM:227260
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... ORPHA:2325
Hereditary Mucoepithelial Dysplasia
Sparse hair, Hyperkeratosis, Alopecia, Fine hair ORPHA:1839
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Leuko... OMIM:616295
Congenital Disorder Of Glycosylation, Type Iq
Eczema, Dry skin, Cutis laxa, Hyperkeratosis, Ichthyosis, Failure to thrive, Hypertrichosis OMIM:612379
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Eczema, Hypohidrosis, Sparse hair, Sparse body hair ORPHA:1810
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Bronch... OMIM:618282
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Ichthyosis, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:2850
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, Enlarged tonsils, Thyroiditis, Ery... OMIM:606367
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Decreased adipose tissue around neck, Brittle hair, Prominent superficial veins, Proger... OMIM:608612
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Generalized... ORPHA:2269
Complex Regional Pain Syndrome
Dry skin, Abnormality of hair growth, Slow-growing nails, Erythema ORPHA:83452
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer ORPHA:2337
Hawkinsinuria
Sparse hair, Failure to thrive, Fine hair ORPHA:2118
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sclerodactyly, Poor wound heali... ORPHA:1010
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... OMIM:604777
Hydroa Vacciniforme
Superficial dermal perivascular inflammatory infiltrate, Hydroa vacciniforme, Eczema, Telangiecta... ORPHA:330058
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Ichthyosis, ... ORPHA:35173
Omenn Syndrome
Alopecia, Pneumonia, Splenomegaly, Thickened skin, Lymphadenopathy, Hypoplasia of the thymus, Ery... OMIM:603554
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma OMIM:146750
Xq27.3Q28 Duplication Syndrome
Truncal obesity, Failure to thrive, Sparse body hair ORPHA:261483
Renpenning Syndrome
Abnormal hairshaft morphology, Alopecia, Cachexia, Thin eyebrow ORPHA:3242
Tetrasomy 12P
Sparse hair, Cachexia, Sparse eyebrow, Hypohidrosis ORPHA:884
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis ORPHA:139414
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Alopecia, Recurrent skin infections, Recurrent pneumonia, Pyoderma gangrenosu... OMIM:616576
Choroidal Atrophy-Alopecia Syndrome
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... ORPHA:1433
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Glomerulonephritis, Eczema, Hepatitis, Lymphadenopathy, Arthritis, Erythroderma, Failur... OMIM:304790
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... OMIM:615024
Trichothiodystrophy 2, Photosensitive
Coarse hair, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Tiger tail banding, Cu... OMIM:616390
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Hyperhidrosis, Orthokeratotic hyperke... OMIM:148700
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Sparse hair, Distichiasis, Sparse lateral eyebrow ORPHA:79133
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin OMIM:602723
Woolly Hair, Autosomal Dominant
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Palmoplant... OMIM:194300
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Abnormality... ORPHA:47
Neonatal Lupus Erythematosus
Parakeratosis, Skin rash, Maculopapular exanthema, Splenomegaly, Hyperkeratosis, Cutaneous photos... ORPHA:398124
Systemic Lupus Erythematosus 17
Alopecia, Malar rash, Optic neuritis, Myelitis OMIM:301080
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Parakeratosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Small n... OMIM:308050
Dermoodontodysplasia
Sparse scalp hair, Hypohidrosis, Ectodermal dysplasia, Fingernail dysplasia, Trichodysplasia, Dry... ORPHA:1660
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Anhidrosis, Dystrophic toenail, Palmoplantar hyperkeratosis OMIM:619209
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Psoriasiform lesion, Hepatosplenomegaly, Lymphadenopathy, Erythroderma, Failure to thrive ORPHA:169154
Alpha-Heavy Chain Disease
Splenomegaly, Alopecia, Lymphadenopathy ORPHA:100025
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Cachexia, Dry skin, Fine hair, Sparse or absent eyelashes, Nail dysplasia, ... ORPHA:217346
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Sparse eyebrow, Brittle hair OMIM:618810
Noonan Syndrome 8
Curly hair, Eczema, Large for gestational age, Patent ductus arteriosus, Hyperkeratosis, Palmopla... OMIM:615355
Heyn-Sproul-Jackson Syndrome
Sparse hair, Decreased body weight OMIM:618724
Coffin-Siris Syndrome 8
Sparse scalp hair, Eczema, Long eyelashes, Failure to thrive, Thick eyebrow, Hypertrichosis OMIM:618362
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Dry skin, Hypohidrosis, Aplasia/Hyp... ORPHA:238468
Porphyria Cutanea Tarda, Type I
Fragile skin, Eczema, Hypertrichosis OMIM:176090
Aquagenic Palmoplantar Keratoderma
Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic hyperk... ORPHA:498359
Nicolaides-Baraitser Syndrome
Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Excessive wrinkl... ORPHA:3051
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Hypotrichosis 5
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... OMIM:612841
Sjögren-Larsson Syndrome
Erythema, Urticaria, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory abnormality of the eye ORPHA:816
Trichothiodystrophy
Ridged nail, Congenital exfoliative erythroderma, Sparse scalp hair, Brittle hair, Split nail, Ec... ORPHA:33364
Trichothiodystrophy 8, Nonphotosensitive
Eczema, Sparse eyebrow, Cutis laxa, Sparse hair, Woolly hair, Trichorrhexis nodosa OMIM:619691
Hypodontia-Dysplasia Of Nails Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... ORPHA:2228
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hypohidrosis, Hyperkeratosis, On... ORPHA:1028
Cutaneous Mastocytoma
Maculopapular exanthema, Telangiectasia of the skin, Pruritus, Thickened skin, Angioedema, Erythe... ORPHA:79455
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Acne, Dorsocervical fat pad, Increased body weight, Bruising susceptibility, Fragile sk... OMIM:615830
Cardiofaciocutaneous Syndrome 3
Hyperkeratosis, Curly hair, Failure to thrive, Hyperhidrosis OMIM:615279
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis OMIM:617574
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Woolly hair, Palmoplantar keratoderma OMIM:611528
Dermatitis, Atopic
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Facial erythem... OMIM:603165
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... OMIM:613000
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Generalized hirsutism, Cachexia ORPHA:1933
X-Linked Intellectual Disability, Golabi-Ito-Hall Type
Dry hair, Brittle hair, Nail dystrophy ORPHA:93947
Progressive Symmetric Erythrokeratodermia
Erythema, Palmoplantar keratoderma ORPHA:316
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Tubulointerstitial nephritis, Colitis, Alopecia, Psoriasiform dermatitis, Hepatitis, Ly... ORPHA:37042
Aredyld Syndrome
Splenomegaly, Cachexia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow ORPHA:1133
Pachydermoperiostosis
Abnormal hair quantity, Osteomyelitis, Acne, Abnormal fingernail morphology, Abnormal hair patter... ORPHA:2796
Epidermolysis Bullosa, Lethal Acantholytic
Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis OMIM:609638
Incontinentia Pigmenti
Alopecia, Skin rash, Abnormal fingernail morphology, Supernumerary nipple, Telangiectasia of the ... ORPHA:464
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Pustule, Paronychia, Perioral erythema, Erythroderma, Failure to thrive, Bleph... OMIM:614328
Bazex-Dupré-Christol Syndrome
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... ORPHA:113
Lipoid Proteinosis
Acne, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp ORPHA:530
Vohwinkel Syndrome, Variant Form
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... OMIM:604117
Rhizomelic Chondrodysplasia Punctata
Alopecia, Dry skin, Sparse body hair, Ichthyosis ORPHA:177
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Membranoproliferative glomerulonep... OMIM:137940
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Splenomegaly, Ja... ORPHA:59303
Naxos Disease
Subungual hyperkeratosis, Curly hair, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker... OMIM:601214
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule ORPHA:464318
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Gastritis, Small for gestational age, Splenomegaly, Paten... ORPHA:84064
Ectodermal Dysplasia-Blindness Syndrome
Abnormal fingernail morphology, Skin ulcer, Fine hair, Hypohidrosis, Hyperkeratosis, Keratoconjun... ORPHA:1806
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation
Alopecia, Ichthyosis OMIM:242510
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Sparse scalp hair, Alopecia, Absent eyebrow, Cutis marmorata, Absent eyel... ORPHA:69735
Rhizomelic Chondrodysplasia Punctata, Type 1
Severe failure to thrive, Alopecia, Ichthyosis OMIM:215100
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperhidrosis, Palmoplantar hyperker... OMIM:615598
Chronic Mucocutaneous Candidiasis
Skin rash, Abnormal fingernail morphology, Pruritus, Erythema, Cheilitis, Hepatitis, Broad nail, ... ORPHA:1334
Leopard Syndrome 3
Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Dry skin OMIM:613707
Mcdonough Syndrome
Synophrys, Cachexia ORPHA:2471
Chromomycosis
Keratitis, Pruritus, Hyperparakeratosis, Vascular skin abnormality, Hyperkeratosis, Keratoconjunc... ORPHA:182
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Brittle hair, Small for gestational age, Failure to thrive in infancy, Fine hair, Sparse hair OMIM:618891
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Abnormal ... ORPHA:678
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Small for gestational age, Splenomegaly, Jaundice, Fine hair, Sparse ha... OMIM:222470
Epidermolytic Palmoplantar Keratoderma
Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar h... ORPHA:2199
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia OMIM:203550
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Absent peripheral lymph nodes in presence of infection, Chronic mucocutaneous candidiasis... ORPHA:98813
Juvenile Dermatomyositis
Myositis, Pericarditis, Skin rash, Alopecia, Telangiectasia of the skin, Pruritus, Erythema, Skin... ORPHA:93672
Autoimmune Lymphoproliferative Syndrome, Type Iii
Alopecia, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splen... OMIM:615559
Holocarboxylase Synthetase Deficiency
Alopecia, Eczema, Weight loss, Keratoconjunctivitis, Perioral eczema ORPHA:79242
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Pruritus, Erythema, Sc... ORPHA:90158
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Fine hair, Palmoplan... ORPHA:2710
Hypotrichosis 13
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology OMIM:615896
Peeling Skin Syndrome 4
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Ichthyosis, Orthokeratosis OMIM:607936
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Ridged nail, Alopecia, Yellow nails, Telangiectasia, Livedo, Onycholysis, Nail dystrophy, Facial ... OMIM:614564
Glycosylphosphatidylinositol Biosynthesis Defect 25
Sparse hair, Coarse hair OMIM:619985
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis, Parakeratosis OMIM:618339
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Recurrent skin infections, Erythema, Palmoplantar keratoderma, Nail dystrophy, Failure ... ORPHA:79396
Hyperkeratosis-Hyperpigmentation Syndrome
Hyperkeratosis, Cutaneous photosensitivity ORPHA:1336
Lelis Syndrome
Yellow nails, Acanthosis nigricans, Absent lower eyelashes, Palmoplantar hyperkeratosis, Hypohidr... ORPHA:140936
Porokeratosis 7, Multiple Types
Parakeratosis, Porokeratosis OMIM:614714
Hypotrichosis 12
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... OMIM:615885
Porokeratosis 1, Multiple Types
Parakeratosis, Porokeratosis OMIM:175800
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia, Alopecia, Dry skin, Palmoplantar keratoderma, Nail dystrophy, Scalin... OMIM:618373
Cardiofaciocutaneous Syndrome 2
Sparse hair, Curly hair, Absent eyebrow, Fine hair OMIM:615278
Cutaneous Small Vessel Vasculitis
Recurrent skin infections, Skin rash, Cutis marmorata, Erythema, Urticaria, Purpura ORPHA:889
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Hor... ORPHA:294023
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat... ORPHA:83617
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair ORPHA:50814
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Fragile skin OMIM:615028
Argininosuccinic Aciduria
Failure to thrive, Dry hair, Brittle hair, Trichorrhexis nodosa OMIM:207900
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair, Ectodermal dysplasia OMIM:273390
Bullous Impetigo
Recurrent bacterial skin infections, Pustule, Erythema, Abnormality of the lymphatic system, Sept... ORPHA:36237
Mucoepithelial Dysplasia, Hereditary
Alopecia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis... OMIM:158310
Behcet Syndrome
Erythema nodosum, Iridocyclitis, Epididymitis, Erythema, Arthritis, Patchy alopecia, Iritis OMIM:109650
Kid Syndrome
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ... ORPHA:477
Intellectual Developmental Disorder, Autosomal Recessive 5
Small for gestational age, Eczema, Synophrys, Sparse hair, Thick eyebrow OMIM:611091
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Hypohidrosis, P... ORPHA:158668
Jessner Lymphocytic Infiltration Of The Skin
Pruritus, Cutaneous photosensitivity, Erythema ORPHA:33314
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Sparse eyebrow, Congenital ichthyosiform erythroderma, Patchy alopecia, Congeni... OMIM:302960
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo... ORPHA:158687
Gand Syndrome
Sparse hair OMIM:615074
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema ORPHA:90160
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Vasculitis i... ORPHA:90159
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Redundant skin, Abnormal hair pattern, Highly arched eyebrow, Prematurely... ORPHA:1807
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Failure to thrive in infancy, Cutis marmorata, Recurrent pneumonia, Bronchiectasis, Hypohidrosis,... OMIM:301220
Christianson Syndrome
Cachexia, Thick eyebrow ORPHA:85278
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair OMIM:619184
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Hypohidrosis, Ectodermal... ORPHA:3253
Hydrocephalus-Obesity-Hypogonadism Syndrome
Obesity, Sparse facial hair, Absent facial hair, Low posterior hairline ORPHA:2183
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Curly hair, Sparse eyelashes, Palmoplantar hyperkeratosis, Hyperhidrosis, Sparse ... OMIM:615280
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma OMIM:133200
Acrogeria
Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Fine hair, Excessive wrinkle... ORPHA:2500
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Alopecia, Nail dystrophy, Nail dysplasia OMIM:175500
Bleeding Disorder, Platelet-Type, 21
Alopecia, Psoriasiform dermatitis, Eczema OMIM:617443
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Brittle hair OMIM:616084
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Pneumonia, Nail dystrophy, Atrichia, Acrocyanosis ORPHA:1867
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Skin ulcer,... ORPHA:90280
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Hypohidrosis ORPHA:181
Kikuchi-Fujimoto Disease
Alopecia, Generalized lymphadenopathy, Skin rash, Pruritus, Myocarditis, Pustule, Cervical lympha... ORPHA:50918
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin OMIM:618527
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis, Acrokeratosis OMIM:101850
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Dermatoleukodystrophy
Hyperkeratosis, Thickened skin ORPHA:1659
Dermatopathia Pigmentosa Reticularis
Alopecia of scalp, Nail dystrophy, Palmoplantar hyperkeratosis, Hypohidrosis OMIM:125595
Poikiloderma With Neutropenia
Plantar hyperkeratosis, Skin rash, Sparse eyebrow, Splenomegaly, Recurrent pneumonia, Low posteri... OMIM:604173
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Alopecia, Hypohidrosis, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormal toenail morphology ORPHA:1005
Erythema Nodosum, Familial
Erythema nodosum, Erythema OMIM:132990
Rapp-Hodgkin Syndrome
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Anhidrotic ectodermal ... OMIM:129400
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Hypomelanosis Of Ito
Alopecia OMIM:300337
Keratolytic Winter Erythema
Pustule, Erythema, Hyperhidrosis ORPHA:50943
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Perianal erythema, Splenomegaly, Paronychia, Dry skin, Perioral erythema, Alop... OMIM:201100
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Acral Peeling Skin Syndrome
Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin ORPHA:263534
Zinc Deficiency, Transient Neonatal
Alopecia, Eczema OMIM:608118
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Abs... OMIM:148210
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Small for gestational age, Hyperhidrosis, Fine hair, Long eyelashes, High anterior hairline ORPHA:231137
Biotinidase Deficiency
Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Conjunctivitis OMIM:253260
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis... ORPHA:280779
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Small for gestational age, Sparse facial hair, Sparse axillary hair, Progeroid facial appearance,... OMIM:608154
Fg Syndrome 3
Sparse hair, Frontal upsweep of hair, Fine hair OMIM:300406
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... ORPHA:79481
Filippi Syndrome
Sparse hair, Frontal hirsutism, Decreased body weight, Hypertrichosis OMIM:272440
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Eczema, Pustule, Erythema, Palmoplantar hyperkeratosis, Keratoconjunc... ORPHA:2907
Costello Syndrome
Deep-set nails, Abnormal fingernail morphology, Failure to thrive in infancy, Redundant skin, Con... ORPHA:3071
X-Linked Intellectual Disability, Cabezas Type
Abnormal hair pattern, Cachexia, Synophrys, Obesity, Hyperhidrosis, Acanthosis nigricans ORPHA:85293
Xeroderma Pigmentosum
Conjunctival telangiectasia, Alopecia, Telangiectasia of the skin, Keratitis, Thickened skin, Ery... ORPHA:910
Tricho-Retino-Dento-Digital Syndrome
Uncombable hair, Sparse hair ORPHA:1264
Pituitary Adenoma 4, Acth-Secreting
Striae distensae, Poor wound healing, Obesity, Facial erythema, Abdominal obesity, Ecchymosis, Br... OMIM:219090
Hypotrichosis 14
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair OMIM:618275
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Alopecia OMIM:612079
Ichthyosis, Congenital, Autosomal Recessive 7
Ichthyosis, Palmoplantar keratoderma, Hypergranulosis, Erythroderma OMIM:615022
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Epidermolytic Hyperkeratosis 1
Congenital bullous ichthyosiform erythroderma, Scaling skin, Palmoplantar hyperkeratosis, Erythro... OMIM:113800
Sulfite Oxidase Deficiency, Isolated
Eczema, Fine hair OMIM:272300
Maculopapular Cutaneous Mastocytosis
Pruritus, Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flu... ORPHA:79457
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Ichthyosis follicularis, Ectodermal dysplasia, Atrichia, Periungual erythema, Scaling skin, Dystr... OMIM:308205
Diffuse Cutaneous Mastocytosis
Pruritus, Thickened skin, Abnormality of the spleen, Lymphadenopathy, Darier's sign, Urticaria, D... ORPHA:79456
Mixed Connective Tissue Disease
Myositis, Pericarditis, Skin rash, Gastritis, Alopecia, Myocarditis, Mediastinal lymphadenopathy,... ORPHA:809
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Hypohidrosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, ... OMIM:615023
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnormality of the nail, Absent ey... ORPHA:2273
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Craniolenticulosutural Dysplasia
Sparse hair, Coarse hair, Brittle hair OMIM:607812
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Bone marrow hypocellularity, Nail dystrophy, Sparse hair, Failure to thrive OMIM:616353
Erythrokeratoderma ''En Cocardes''
Hyperkeratosis ORPHA:315
Weaver Syndrome
Deep-set nails, Abnormal fingernail morphology, Thin nail, Redundant skin, Hypoplastic toenails, ... ORPHA:3447
Linear Verrucous Nevus Syndrome
Hyperkeratosis, Sparse scalp hair ORPHA:2611
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
Alopecia Antibody Deficiency
Abnormal eyelash morphology, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:1006
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Sparse scalp hair, Fine hair ORPHA:2324
Even-Plus Syndrome
Sparse hair, Synophrys, Atopic dermatitis, Highly arched eyebrow OMIM:616854
Immunodeficiency 7
Splenomegaly, Lymphadenopathy, Patchy alopecia, Chronic oral candidiasis, Recurrent otitis media,... OMIM:615387
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Lymphadenitis, Splenomegaly, Lymphadenopathy, Inflammation of the large intestine, Nail d... OMIM:615895
Ichthyosis, Congenital, Autosomal Recessive 3
Anhidrosis, Erythema, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullo... OMIM:606545
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patent ductus arterio... OMIM:106260
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Monosomy 22
Aplasia of the thymus, Seborrheic dermatitis, Thickened skin, Synophrys, Hyperhidrosis, Hepatospl... ORPHA:96123
Localized Scleroderma
Fasciitis, Abnormal skin adnexa morphology, Thickened skin, Erythema, Uveitis, Arthritis, Patchy ... ORPHA:90289
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo... OMIM:614457
Oculocerebrocutaneous Syndrome
Alopecia OMIM:164180
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... OMIM:620148
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Recurrent pneumonia, Erythema, Chronic mucocutaneous candidiasis, Eczematoid dermatiti... OMIM:147060
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Anhidrosis, Absent eyelashes,... OMIM:614941
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Dry skin, Urticaria, Ichthyosis, Failure to thrive ORPHA:1954
Lig4 Syndrome
Telangiectasia of the skin, Erythema, Low anterior hairline, Lymphadenopathy, Cutaneous photosens... ORPHA:99812
Vibratory Urticaria
Urticaria, Facial erythema, Flushing OMIM:125630
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Amaurosis-Hypertrichosis Syndrome
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow ORPHA:1021
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Failure to thrive, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Failure to thrive, Seborrheic dermatitis OMIM:210210
Congenital Disorder Of Glycosylation, Type If
Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive OMIM:609180
Pachyonychia Congenita 1
Follicular hyperkeratosis, Nail dystrophy, Onychogryposis, Palmoplantar hyperkeratosis OMIM:167200
Chondrodysplasia Punctata, Autosomal Dominant
Sparse hair, Hyperkeratosis with erythema, Coarse hair OMIM:118650
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Acne, Hirsutism OMIM:612847
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Sparse hair, Dry skin, Acanthosis nigricans OMIM:268020
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Bronchiectasis, Facial erythema, Arthritis, Vasculitis in the ski... OMIM:620321
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Anonychia, Nail dystrophy, Palmoplantar keratoderma OMIM:616029
Marshall-Smith Syndrome
Brittle hair, Highly arched eyebrow, Synophrys, Patent ductus arteriosus, Aspiration pneumonia, D... OMIM:602535
Chime Syndrome
Erythema, Skin ulcer, Fine hair, Hyperkeratosis, Ichthyosis, Sparse hair ORPHA:3474
Adams-Oliver Syndrome 2
Alopecia, Cutis marmorata, Low anterior hairline, Small nail OMIM:614219
Odontotrichoungual-Digital-Palmar Syndrome
Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, P... OMIM:607823
Johnson Neuroectodermal Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Hypohidrosis, Sparse hair, Failure to thrive ORPHA:2316
Cerebrooculofacioskeletal Syndrome 2
Sparse hair, Cutaneous photosensitivity, Small for gestational age OMIM:610756
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse hair, Sparse eyebrow OMIM:619989
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Low anterior hairline, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow OMIM:616819
Rodrigues Blindness
Sparse hair, Ectodermal dysplasia, Fine hair OMIM:268320
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis OMIM:613943
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Erythema, Colitis OMIM:219095
Mucolipidosis Ii Alpha/Beta
Brittle hair, Sparse eyebrow, Splenomegaly, Recurrent pneumonia, Sparse hair, Recurrent otitis me... OMIM:252500
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Alopecia ORPHA:88630
Anauxetic Dysplasia 2
Sparse hair, Nail dysplasia, Small nail OMIM:617396
Familial Peripheral Male-Limited Precocious Puberty
Abnormal hair morphology, Acne ORPHA:3000
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Pruritus, Erythema, Lymphadenopathy OMIM:254400
Orofaciodigital Syndrome Type 1
Alopecia, Brittle hair, Coarse hair, Sparse hair, Chronic otitis media, Dry skin ORPHA:2750
Harlequin Ichthyosis
Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma ORPHA:457
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Anhidrosis, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Hypohidrotic ectodermal dysplasia, Pe... OMIM:224900
Craniofrontonasal Dysplasia
Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail, Woolly hair ORPHA:1520
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Abnormal fingernail morphology, Pruritus, Gastrointestinal inflammation, Hyperkeratotic papule, P... ORPHA:79410
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Splenomegaly, L... OMIM:602450
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Leukonychia, Palmoplantar hyperkeratosis ORPHA:2698
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sparse hair, Prominent superficial veins, Small for gestational age, Fine hair OMIM:616817
Chanarin-Dorfman Syndrome
Alopecia, Congenital nonbullous ichthyosiform erythroderma OMIM:275630
Blepharocheilodontic Syndrome 1
Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis OMIM:119580
Rothmund-Thomson Syndrome Type 2
Plantar hyperkeratosis, Porokeratosis, Small for gestational age, Alopecia totalis, Erythema, Fac... ORPHA:221016
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis, Abnormality of the nail ORPHA:254478
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Myocarditis, Angioedema, Erythema, Hepatitis, Thyroiditis, Lymphadenopathy, W... ORPHA:139402
Hemifacial Atrophy, Progressive
Patchy alopecia, Poliosis OMIM:141300
Lessel-Kubisch Syndrome
Sparse pubic hair, Premature graying of hair OMIM:618681
2Q32Q33 Microdeletion Syndrome
Sparse hair, Fine hair ORPHA:251019
Macs Syndrome
Alopecia, Redundant skin, Sparse eyebrow, Bronchiectasis, Cutis laxa, Recurrent aphthous stomatit... OMIM:613075
Vulto-Van Silfhout-De Vries Syndrome
Widow's peak, Horizontal eyebrow, Fine hair OMIM:615828
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema, Skin ulcer, Fragile skin ORPHA:542592
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Sparse hair, Ectodermal dysplasia, Hypoplastic nipples, Small nail OMIM:273400
Familial Cold Urticaria
Pruritus, Erythema, Hyperhidrosis, Urticaria, Arthritis, Conjunctivitis ORPHA:47045
Immunodeficiency, Common Variable, 10
Trachyonychia, Psoriasiform dermatitis, Alopecia totalis, Recurrent pneumonia, Recurrent sinusiti... OMIM:615577
Mastocytosis, Cutaneous
Urticaria, Erythema, Telangiectasia macularis eruptiva perstans OMIM:154800
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Dermatomyositis
Abnormal hair quantity, Pericarditis, Telangiectasia of the skin, Pruritus, Myocarditis, Erythema... ORPHA:221
Dowling-Degos Disease
Abnormal fingernail morphology, Pruritus, Arthritis, Hyperkeratosis, Skin vesicle, Hyperkeratotic... ORPHA:79145
Sydenham Chorea
Septic arthritis, Erythema, Endocarditis ORPHA:306731
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Hyperconvex fingernails, Skin vesicle, Alopecia, Hypoplastic fingernail ORPHA:257
Chromosome Xq27.3-Q28 Duplication Syndrome
Abdominal obesity, Small for gestational age, Sparse body hair OMIM:300869
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Erythema, Weight loss, Urticaria ORPHA:703
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Skin ulcer, ... ORPHA:978
Giant Axonal Neuropathy
Woolly hair, Pili canaliculi ORPHA:643
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Redundant skin, Seborrheic dermatitis, Patent ductus arteriosus, Erythema, Palmoplantar hyperkera... OMIM:259100
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Sparse hair, Failure to thrive, Hyperconvex nail, Eczema OMIM:619721
Adiposis Dolorosa
Recurrent skin infections, Telangiectasia of the skin, Sparse axillary hair, Sparse pubic hair, O... ORPHA:36397
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal fingernail morphology, Chronic mucocutaneous candidiasis ORPHA:3453
Dermatofibrosarcoma Protuberans
Thickened skin, Erythema, Skin ulcer ORPHA:31112
Keratolytic Winter Erythema
Erythema, Palmoplantar hyperhidrosis OMIM:148370
Satoyoshi Syndrome
Alopecia, Alopecia universalis OMIM:600705
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Diencephalic Syndrome
Decreased body weight, Cachexia, Hyperhidrosis ORPHA:1672
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
Leopard Syndrome 2
Curly hair, Dry skin OMIM:611554
Autoimmune Polyendocrinopathy Type 2
Alopecia, Hashimoto thyroiditis ORPHA:3143
Pemphigus Vulgaris
Urticaria, Recurrent cutaneous abscess formation, Weight loss, Acantholysis ORPHA:704
Fountain Syndrome
Synophrys, Erythema, Cutis marmorata, Thick eyebrow ORPHA:3219
Localized Junctional Epidermolysis Bullosa
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N... ORPHA:251393
Desbuquois Syndrome
Sparse hair, Abnormal eyelash morphology ORPHA:1425
Keutel Syndrome
Recurrent otitis media, Alopecia, Recurrent sinusitis ORPHA:85202
Rothmund-Thomson Syndrome Type 1
Plantar hyperkeratosis, Porokeratosis, Small for gestational age, Alopecia totalis, Facial erythe... ORPHA:221008
Multicentric Reticulohistiocytosis
Arthritis, Cachexia ORPHA:139436
Donohue Syndrome
Hyperkeratosis, Severe failure to thrive, Nail dysplasia, Acanthosis nigricans, Hypertrichosis OMIM:246200
Relapsing Polychondritis
Episcleritis, Pericarditis, Alopecia, Chondritis of pinna, Keratitis, Myocarditis, Erythema, Hepa... ORPHA:728
Familial Cold Autoinflammatory Syndrome 3
Allergic rhinitis, Pruritus, Angioedema, Erythema, Dermatographic urticaria, Cold urticaria, Recu... OMIM:614468
Seckel Syndrome
Sparse scalp hair, Prematurely aged appearance, Cachexia ORPHA:808
Abnormal Hair, Joint Laxity, And Developmental Delay
Alopecia, Trichorrhexis nodosa, Small nail, Recurrent otitis media, Pili torti, Fragile nails, Sp... OMIM:261990
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity, Alopecia, Supernumerary nipple ORPHA:3224
Bloom Syndrome
Small for gestational age, Bronchiectasis, Facial erythema, Cutaneous photosensitivity, Malar ras... OMIM:210900
Distal Duplication 6P
Abnormal eyelash morphology, Fine hair, Dry skin, Abnormal hair quantity ORPHA:1745
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Hypohidrosis, Short eyelashes, Palmoplantar hyperhidrosis, Pal... OMIM:150400
Arthrogryposis And Ectodermal Dysplasia
Absent eyebrow, Trichiasis, Hypohidrosis, Hyperkeratosis, Ectodermal dysplasia, Nail dysplasia, T... OMIM:601701
H Syndrome
Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Bronchiectasis, Hepatosplenomegal... ORPHA:168569
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Synophrys, Coarse hair, Hirsutism OMIM:252920
Cranioectodermal Dysplasia
Sparse hair, Abnormal toenail morphology, Abnormal fingernail morphology ORPHA:1515
Pachyonychia Congenita 3
Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Hyperhidrosis, Palmoplantar kera... OMIM:615726
Bresek Syndrome
Alopecia, Ichthyosis ORPHA:85284
Pediatric Systemic Lupus Erythematosus
Myositis, Alopecia, Skin rash, Discoid lupus rash, Lymphadenopathy, Arthritis, Malar rash, Nephritis ORPHA:93552
Hemochromatosis, Type 1
Splenomegaly, Alopecia, Telangiectasia OMIM:235200
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Sparse hair, Failure to thrive OMIM:620001
Rothmund-Thomson Syndrome
Plantar hyperkeratosis, Porokeratosis, Skin rash, Sparse eyelashes, Alopecia totalis, Small for g... ORPHA:2909
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Chronic active hepatitis, Alopecia, Asplenia, Iridocyclitis, Chronic mucocuta... OMIM:240300
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Proteasome-Associated Autoinflammatory Syndrome 1
Episcleritis, Sparse axillary hair, Progeroid facial appearance, Erythema nodosum, Splenomegaly, ... OMIM:256040
Oculocutaneous Albinism Type 1A
Hyperkeratosis, Hypopigmentation of hair, Thickened skin, Albinism ORPHA:79431
Prolidase Deficiency
Eczema, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, Diffuse telangiectas... OMIM:170100
Ramon Syndrome
Angiokeratoma, Telangiectasia, Hyperkeratosis, Decreased body weight, Juvenile rheumatoid arthrit... OMIM:266270
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Pustule, Splenomegaly, Synov... ORPHA:77297
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma, Cutaneous photos... ORPHA:330064
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse pubic hair, Sparse axillary hair OMIM:146110
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Plethora, Alopecia, Striae distensae, Acne, Dorsocervical fat pad, Increased body weight, Abdomin... ORPHA:189427
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Eczema, Large for gestational age, Hyperkeratosis, Loose anagen ha... OMIM:607721
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Alopecia, Fine hair ORPHA:228390
Cardiocranial Syndrome, Pfeiffer Type
Sparse hair, Abnormal hair whorl ORPHA:2872
Hatipoglu Immunodeficiency Syndrome
Anhidrosis, Failure to thrive, Eczema, Poor wound healing, Thickened skin, Atopic dermatitis, Dry... OMIM:620331
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Sparse body hair, Obesity ORPHA:2234
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Maculopapular exanthema, Splenomegaly, Jaundice, Lymphadenopathy, Colitis, Erythroderm... ORPHA:540
Immunodeficiency 58
Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Allergic rhinitis, Seborrheic... OMIM:618131
Chand Syndrome
Curly hair, Nail dysplasia OMIM:214350
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Synophrys, Coarse hair, Hirsutism OMIM:252900
Kury-Isidor Syndrome
Recurrent otitis media, Alopecia, Hypertrichosis OMIM:619762
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... OMIM:613736
Primary Erythromelalgia
Pruritus, Erythema ORPHA:90026
Noonan Syndrome 6
Sparse hair, Curly hair, Long eyebrows, Low posterior hairline OMIM:613224
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Small for gestational age, Dorsocervical fat pad, Synophrys, Low anterior hairline, Fine hair, De... ORPHA:391408
Spinocerebellar Ataxia 34
Epidermal hyperkeratosis, Erythroderma OMIM:133190
Werner Syndrome
Sparse scalp hair, Prematurely aged appearance, Telangiectasia of the skin, Abnormal hair whorl, ... ORPHA:902
Lymphatic Malformation 4
Hyperkeratosis, Prominent superficial veins, Toenail dysplasia OMIM:615907
Adult-Onset Still Disease
Pericarditis, Generalized lymphadenopathy, Skin rash, Pruritus, Myocarditis, Splenomegaly, Erythe... ORPHA:829
Mitochondrial Complex I Deficiency, Nuclear Type 33
Sparse hair, Small for gestational age, Bronchiectasis, Aspiration pneumonia OMIM:618253
Erythema Of Acral Regions
Erythema OMIM:227000
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology ORPHA:3082
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Hall-Riggs Syndrome
Coarse hair, Failure to thrive, Slow-growing hair, Thick hair ORPHA:2107
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Short Syndrome
Sparse hair, Excessive wrinkled skin, Alopecia, Weight loss ORPHA:3163
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa, Abnormal lymph node morphology ORPHA:33111
Mucopolysaccharidosis, Type Iiic
Splenomegaly, Synophrys, Coarse hair, Hirsutism, Hypertrichosis OMIM:252930
Noonan Syndrome 5
Curly hair, Large for gestational age, Sparse eyebrow, Fine hair, Small nail, Dry skin OMIM:611553
Xp22.13P22.2 Duplication Syndrome
Sparse hair, Truncal obesity, High anterior hairline ORPHA:284180
Agel Amyloidosis
Pruritus, Dry skin, Cutis laxa, Keratoconjunctivitis sicca, Abnormal spleen morphology, Nail dyst... ORPHA:85448
Rosaï-Dorfman Disease
Erythema, Lymphadenopathy ORPHA:158014
Dyskeratosis Congenita
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Telangiectasia of the skin... ORPHA:1775
Fanconi Anemia, Complementation Group S
Sparse hair, Failure to thrive, Long eyelashes, Low anterior hairline OMIM:617883
Leprosy
Absent eyebrow, Alopecia, Abnormality of the spleen, Loss of eyelashes, Penetrating foot ulcers, ... ORPHA:548
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Tubulointerstitial nephritis, Failure to thrive, Brittle hair, Cholangitis OMIM:124000
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, Low anterior hairline, Thin eyebrow, Sparse hair, Pili torti, Sparse lateral ey... ORPHA:1787
Mulibrey Nanism
Cachexia ORPHA:2576
Darier-White Disease
Ridged nail, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratotic fragments OMIM:124200
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Fine hair ORPHA:3236
Superficial Epidermolytic Ichthyosis
Ichthyosis, Erythema, Palmoplantar keratoderma, Acantholysis ORPHA:455
Macrocephaly/Autism Syndrome
Large for gestational age, Splenomegaly, Obesity, Cutis laxa, Coarse hair, Recurrent otitis media OMIM:605309
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Sparse hair, Hirsutism OMIM:618087
De Sanctis-Cacchione Syndrome
Parakeratosis, Keratitis, Telangiectasia, Conjunctivitis, Cutaneous photosensitivity OMIM:278800
Reactive Arthritis
Pericarditis, Osteomyelitis, Pustule, Enthesitis, Weight loss, Arthritis, Inflammation of the lar... ORPHA:29207
Dyskeratosis Congenita, Autosomal Dominant 3
Alopecia, Fine hair, Premature graying of hair, Bone marrow hypocellularity, Nail dysplasia, Dry ... OMIM:613990
Erythema Palmare Hereditarium
Erythema OMIM:133000
Benign Chronic Pemphigus
Erythema OMIM:169600
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Annular Erythema
Erythema OMIM:106500
Intellectual Developmental Disorder, Autosomal Dominant 34
Curly hair, Synophrys, Coarse hair OMIM:616351
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia OMIM:600785
Autosomal Erythropoietic Protoporphyria
Pruritus, Cutaneous photosensitivity, Erythema, Eczema ORPHA:79278
Mandibuloacral Dysplasia
Alopecia, Increased subcutaneous truncal adipose tissue, Acanthosis nigricans, Sparse hair, Hypop... ORPHA:2457
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Sparse hair, Curly hair, Synophrys, Sparse eyebrow OMIM:620075
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes OMIM:616367
Primary Myelofibrosis
Cachexia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Pallor, Ecchymosis, Petechiae, Purpura ORPHA:824
Dyskeratosis Congenita, Autosomal Dominant 1
Ridged nail, Alopecia, Nail pits, Hepatic necrosis, Premature graying of hair, Interstitial pneum... OMIM:127550
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Patchy alopecia, Progeroid facial appearance OMIM:617763
Celiac Disease, Susceptibility To, 1
Alopecia, Eczema, Thyroiditis, Weight loss, Recurrent aphthous stomatitis, Stomatitis, Failure to... OMIM:212750
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormality of the lymphatic system, Hyperparakeratosis, Telangiectasia of the skin, Seborrheic d... ORPHA:276280
Mantle Cell Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy ORPHA:52416
Holocarboxylase Synthetase Deficiency
Alopecia, Skin rash OMIM:253270
Bone Marrow Failure Syndrome 3
Eczema, Hyperkeratosis, Nail dystrophy, Small nail, Bone marrow hypocellularity, Sparse hair, Fai... OMIM:617052
Ruijs-Aalfs Syndrome
Premature graying of hair, Sparse hair, Decreased body weight OMIM:616200
Systemic Sclerosis
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Alopecia, Nail bed te... ORPHA:90291
Intellectual Developmental Disorder, Autosomal Dominant 65
Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline OMIM:619320
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Iridocyclitis, Alopecia, Pancreatitis, Progeroid facial appearance ORPHA:412057
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Splenomegaly, Atopic dermatitis,... OMIM:115150
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Large for gestational age, Hypopla... ORPHA:544488
Ectodermal Dysplasia And Immunodeficiency 2
Anhidrosis, Sparse scalp hair, Anhidrotic ectodermal dysplasia, Splenomegaly, Dry skin, Hypohidro... OMIM:612132
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Pruritus, Urticaria, Angioedema, Erythema ORPHA:100057
Monosomy 18P
Alopecia, Low posterior hairline ORPHA:1598
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Adams-Oliver Syndrome
Alopecia, Cutis marmorata, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Failure ... ORPHA:974
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Conjunctivitis, Nail dystrophy, Nail dysplasia, Fragile skin OMIM:226600
Giant Cell Arteritis
Alopecia, Pericarditis, Mediastinal lymphadenopathy, Skin ulcer, Hyperhidrosis, Weight loss, Arth... ORPHA:397
Hutchinson-Gilford Progeria Syndrome
Alopecia OMIM:176670
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Braddock-Carey Syndrome 1
Sparse hair, Curly hair OMIM:619980
Giant Axonal Neuropathy 1, Autosomal Recessive
Curly hair OMIM:256850
Nijmegen Breakage Syndrome
Abnormal hair quantity, Cachexia, Abnormal hair morphology, Recurrent pneumonia, Low anterior hai... ORPHA:647
Generalized Pustular Psoriasis
Pustule, Overweight, Cheilitis, Uveitis, Obesity, Arthritis, Palmoplantar pustulosis, Erythroderm... ORPHA:247353
Cutis Laxa, Autosomal Recessive, Type Iiia
Sparse hair, Prominent superficial blood vessels, Failure to thrive, Cutis laxa OMIM:219150
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Dry skin, Broad eyebrow OMIM:619244
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Cheilitis, Lymphad... ORPHA:293173
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Urticaria, Erythroderma ORPHA:280785
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hypohidrosis, Hyperconv... ORPHA:1071
Joubert Syndrome 37
Sparse hair, Obesity OMIM:619185
Dermatitis Herpetiformis
Eczema, Pruritus, Erythema, Urticaria, Skin vesicle ORPHA:1656
Gomez-Lopez-Hernandez Syndrome
Alopecia OMIM:601853
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Nail dysplasia, ... ORPHA:163654
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Redundant neck skin, Thick hair, Redundant skin, Abnormal subcutaneous fat tissue distribution, P... ORPHA:357074
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Alopecia OMIM:600142
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Acne, Frontal balding, Synophrys, Obesity, Facial hirsutism, High anterior hairlin... ORPHA:247768
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Patent ductus arteriosus, Comedonal acne, Follicular hyperkeratosis OMIM:615147
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis m... ORPHA:169160
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Absent eyebrow, Alopecia, Absent eyelashes, Small nail, Ichthyosis ORPHA:166035
Fibrodysplasia Ossificans Progressiva
Alopecia OMIM:135100
Tonne-Kalscheuer Syndrome
Fine hair, Small nail, Concave nail OMIM:300978
Familial Benign Copper Deficiency
Early balding, Acne ORPHA:1551
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Pruritus, Splenomegaly, Weight loss, Lymphadenopathy, Hyperhidrosis ORPHA:86893
Borjeson-Forssman-Lehmann Syndrome
Sparse hair, Truncal obesity, Thick eyebrow ORPHA:127
Kawasaki Disease
Pericarditis, Abnormality of nail color, Skin rash, Myocarditis, Cervical lymphadenopathy, Jaundi... ORPHA:2331
Chronic Graft Versus Host Disease
Fasciitis, Alopecia, Poor wound healing, Urinary bladder inflammation, Thickened skin, Erythema, ... ORPHA:99921
Iga Pemphigus
Neutrophilic infiltration of the skin, Acantholysis, Pruritus, Pustule, Ulcerative colitis, Skin ... ORPHA:555905
Trichorhinophalangeal Syndrome, Type I
Slow-growing hair, Thin nail, Concave nail, Osteoarthritis, Leukonychia, Fine hair, Thin eyebrow,... OMIM:190350
Protoporphyria, Erythropoietic, 1
Pruritus, Erythema, Eczema OMIM:177000
Alstrom Syndrome
Alopecia, Chronic active hepatitis, Recurrent pneumonia, Tubulointerstitial nephritis, Truncal ob... OMIM:203800
Polyarteritis Nodosa
Pericarditis, Cutis marmorata, Erythema, Skin ulcer, Weight loss ORPHA:767
Satoyoshi Syndrome
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis ORPHA:3130
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Cutis marmorat... ORPHA:727
Focal Dermal Hypoplasia
Alopecia, Telangiectasia of the skin, Patent ductus arteriosus, Erythema, Abnormality of the nail ORPHA:2092
Androgen Insensitivity Syndrome
Sparse pubic hair, Absent facial hair, Sparse axillary hair OMIM:300068
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Molluscum contagiosum, Ectodermal dysplasia, Aplasia of the eccrine sweat glands OMIM:300291
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Synophrys, Glomerulonephritis, Fine hair OMIM:619428
Kindler Epidermolysis Bullosa
Recurrent skin infections, Erythema, Cheilitis, Hyperkeratosis, Inflammation of the large intesti... ORPHA:2908
Acral Self-Healing Collodion Baby
Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Chromosome 5P13 Duplication Syndrome
Sparse hair, Small for gestational age, Low posterior hairline OMIM:613174
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Thickened skin, Splenomegaly, Loss of eyelashes, Jaundice, Conjunctivit... OMIM:263700
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Erythema, Fine hair, Onycholysis, Nail dystr... OMIM:614748
Cutis Laxa, Autosomal Recessive, Type Iiib
Prominent superficial veins, Cutis laxa, Fine hair, Excessive wrinkled skin, Sparse hair, Dermal ... OMIM:614438
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Woolly hair OMIM:607450
Autoimmune Polyendocrine Syndrome, Type Ii
Alopecia, Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Chronic h... OMIM:269200
Renpenning Syndrome 1
Sparse hair, Brittle hair, Sparse lateral eyebrow OMIM:309500
Corneodermatoosseous Syndrome
Abnormal fingernail morphology, Thickened skin, Erythema, Palmoplantar keratoderma, Absent finger... ORPHA:3194
Systemic Lupus Erythematosus
Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Lymphadenopathy, Arthritis, Cutaneous p... ORPHA:536
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Prematurely aged appearance, Progeroid facial appearance, Abnormal hair morphology, Nai... ORPHA:90154
Proteus Syndrome
Lymphangioma, Hyperkeratosis, Splenomegaly OMIM:176920
Eec Syndrome
Slow-growing hair, Keratitis, Sparse eyebrow, Nail pits, Fine hair, Inflammatory abnormality of t... ORPHA:1896
Mucopolysaccharidosis-Plus Syndrome
Thickened skin, Synophrys, Recurrent pneumonia, Low anterior hairline, Patent ductus arteriosus, ... OMIM:617303
Onychotrichodysplasia And Neutropenia
Curly hair, Chronic irritative conjunctivitis, Curly eyelashes, Concave nail, Sparse pubic hair, ... OMIM:258360
Adrenoleukodystrophy
Alopecia OMIM:300100
Trichorhinophalangeal Syndrome, Type Iii
Sparse hair, Sparse lateral eyebrow OMIM:190351
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eczema, Pruritus, Abnormal hair morphology, Paronychia, Skin ulcer, Ski... ORPHA:2314
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Patchy alopecia ORPHA:85279
Noonan Syndrome 14
Curly hair, Sparse eyebrow, Hyperhidrosis, Low posterior hairline, Sparse hair, Dry skin, Bruisin... OMIM:619745
Ameloonychohypohidrotic Syndrome
Hypohidrosis, Onycholysis, Dry skin, Seborrheic dermatitis OMIM:104570
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Psoriasiform dermatitis, Alopecia totalis, Recurrent pneumonia, Thyroiditis, Bronchiect... ORPHA:293978
Focal Dermal Hypoplasia
Ridged nail, Brittle hair, Supernumerary nipple, Telangiectasia, Patchy alopecia, Nail dystrophy,... OMIM:305600
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Insulin-Resistance Syndrome Type B
Alopecia, Skin rash, Pneumonia, Abnormality of body weight, Osteoarthritis, Increased body weight... ORPHA:2298
Aicardi-Goutieres Syndrome 1
Chilblains, Splenomegaly, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Multiple Sulfatase Deficiency
Splenomegaly, Coarse hair, Thick eyebrow, Ichthyosis ORPHA:585
Poems Syndrome
Thickened skin, Abnormality of skin physiology, Leukonychia, Lymphadenopathy, Weight loss, Acrocy... ORPHA:2905
Melas
Erythema, Failure to thrive, Recurrent pancreatitis, Hypertrichosis ORPHA:550
Chromosome 19Q13.11 Deletion Syndrome, Distal
Reduced subcutaneous adipose tissue, Sparse eyelashes, Sparse eyebrow, Dry skin, Nail dysplasia, ... OMIM:613026
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Trichotillomania
Alopecia OMIM:613229
Hawkinsinuria
Sparse hair, Failure to thrive OMIM:140350
Autosomal Dominant Hypocalcemia
Alopecia, Abnormal fingernail morphology, Eczema, Dry skin, Abnormality of the nail ORPHA:428
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Sparse hair OMIM:614105
Noonan Syndrome 10
Curly hair, Sparse eyebrow, Patent ductus arteriosus, Hyperkeratosis, Palmoplantar cutis laxa OMIM:616564
Johanson-Blizzard Syndrome
Alopecia, Failure to thrive, Abnormal hair pattern ORPHA:2315
Sympathetic Ophthalmia
Alopecia, Erythema, Posterior uveitis, Poliosis ORPHA:79098
Recessive X-Linked Ichthyosis
Ichthyosis, Hyperkeratosis, Dry skin, Hypohidrosis ORPHA:461
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormal eyebrow morphology, Alopecia, Prematurely aged appearance, Progeroid facial appearance, ... ORPHA:90153
Adult Syndrome
Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nail pits, Dry skin, E... OMIM:103285
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Progeria-Short Stature-Pigmented Nevi Syndrome
Alopecia, Small for gestational age, Lack of facial subcutaneous fat, Prematurely aged appearance... ORPHA:2959
Bartsocas-Papas Syndrome
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... ORPHA:1234
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Nail dystrop... OMIM:610644
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Erythema, Rheumatoid arthritis ORPHA:79099
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Erythema, Lymphadenopathy, Urticaria, Arthritis, Recurrent aphthous stomatitis, Acro... ORPHA:343
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma, Failure to thrive OMIM:227090
Intellectual Developmental Disorder, Autosomal Dominant 66
Sparse hair OMIM:619910
Fetal Hydantoin Syndrome
Coarse hair, Hypoplastic fingernail, Low posterior hairline ORPHA:1912
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Ichthyosis OMIM:163200
Noonan Syndrome 9
Sparse eyebrow, Curly hair OMIM:616559
Polyendocrine-Polyneuropathy Syndrome
Alopecia ORPHA:453533
Gorlin-Chaudhry-Moss Syndrome
Patent ductus arteriosus, Coarse hair, Low anterior hairline, Generalized hirsutism ORPHA:2095
Noonan Syndrome 7
Hyperhidrosis, Curly hair, Large for gestational age, Low posterior hairline OMIM:613706
Fixed Drug Eruption
Stomatitis, Erythema, Crusting erythematous dermatitis, Generalized abnormality of skin ORPHA:293812
Noonan Syndrome 2
Curly hair, Sparse eyebrow, Patent ductus arteriosus, Low posterior hairline, Hyperkeratosis, Pal... OMIM:605275
Premature Aging Syndrome, Penttinen Type
Prominent superficial veins, Prematurely aged appearance, Thickened skin, Palmoplantar hyperkerat... OMIM:601812
Chops Syndrome
Curly hair, Thick hair, Splenomegaly, Synophrys, Patent ductus arteriosus, Obesity, Coarse hair, ... OMIM:616368
Meige Disease
Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce... ORPHA:90186
Combined Immunodeficiency-Enteropathy Spectrum
Absent eyebrow, Psoriasiform dermatitis, Thickened skin, Hepatitis, Hypoplasia of the thymus, Nai... ORPHA:436252
Warty Dyskeratoma
Abnormal fingernail morphology, Acrokeratosis, Epidermal thickening, Acantholysis ORPHA:69745
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Trichorhinophalangeal Syndrome Type 1
Sparse eyelashes, Sparse eyebrow, Leukonychia, Sparse hair, Fragile nails ORPHA:77258
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Pneumonia, Pruritus, Thickened skin, Erythema, Urticaria, Skin vesicl... ORPHA:2135
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Thickened skin, Weight loss, Hyperkeratosis, Long eyelashes, Bruising s... ORPHA:79430
Dyskeratosis Congenita, Digenic
Alopecia, Failure to thrive, Sparse eyelashes, Nail dystrophy OMIM:620040
Immunodeficiency 23
Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczema, Erythema, Bronchiectasis, Ch... OMIM:615816
Cranioectodermal Dysplasia 3
Short nail, Broad nail, Fine hair, Cutis laxa, Ectodermal dysplasia, Sparse hair, Dry skin OMIM:614099
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Failure to thrive, Generalized ichthyosis, Esophagitis, Abnormality of hair texture ORPHA:79351
Idiopathic Bronchiectasis
Acute infectious pneumonia, Bronchiectasis, Cachexia ORPHA:60033
Oculocerebrocutaneous Syndrome
Alopecia, Abnormal fingernail morphology ORPHA:1647
Revesz Syndrome
Nail pits, Fine hair, Nail dystrophy, Bone marrow hypocellularity, Sparse hair, Ridged fingernail OMIM:268130
S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Abnormality of hair texture ORPHA:88618
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Alopecia, Prominent superficial veins, Sparse eyelashes, Progeroid facial appe... OMIM:614008
Xeroderma Pigmentosum, Complementation Group F
Erythema, Cutaneous photosensitivity, Decreased body weight OMIM:278760
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Small for gestational age, Absent ... OMIM:268400
Smith-Kingsmore Syndrome
Curly hair, Large for gestational age OMIM:616638
Ane Syndrome
Alopecia ORPHA:157954
Biotinidase Deficiency
Skin rash, Alopecia, Eczematoid dermatitis, Conjunctivitis ORPHA:79241
Koolen-De Vries Syndrome
Fair hair, Small for gestational age, Eczema, Abnormality of hair texture, Patent ductus arterios... OMIM:610443
Gapo Syndrome
Alopecia, Sparse eyelashes, Prematurely aged appearance, Sparse eyebrow, Early balding ORPHA:2067
Spinocerebellar Ataxia-Dysmorphism Syndrome
Coarse hair ORPHA:1185
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Generalized lymphadenopathy, Cutis marmorata, Eczema, Chola... ORPHA:3260
Nicolaides-Baraitser Syndrome
Absent eyebrow, Dry hair, Sparse scalp hair, Failure to thrive, Eczema, Low anterior hairline, Lo... OMIM:601358
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Retinal telangiectasia, Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Bon... OMIM:612199
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Synophrys, Long eyelashes, Obesity, Fine hair OMIM:620250
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Bruising susceptibility, Follicular hyperkeratosis ORPHA:300179
Neutral Lipid Storage Disease With Ichthyosis
Alopecia, Obesity, Congenital nonbullous ichthyosiform erythroderma ORPHA:98907
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Anhidrosis, Dry hair, Cachexia, Splenomegaly, Fine hair, Ker... ORPHA:191
Frontonasal Dysplasia 2
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse hair OMIM:613451
Noonan Syndrome 4
Curly hair, Large for gestational age, Sparse eyebrow, High anterior hairline, Bruising susceptib... OMIM:610733
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Alopecia, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Thymom... ORPHA:227990
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair OMIM:608615
Neuroocular Syndrome
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Small nail, Distichiasis, Thick e... OMIM:619539
Hypocalcemic Vitamin D-Resistant Rickets
Alopecia ORPHA:93160
Neutrophilic Dermatosis, Acute Febrile
Erythema, Pyoderma gangrenosum, Panniculitis, Cystic acne, Acne inversa OMIM:608068
Immunoglobulin A Vasculitis
Episcleritis, Skin rash, Orchitis, Pustule, Angioedema, Erythema, Vascular skin abnormality, Skin... ORPHA:761
Limb-Mammary Syndrome
Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Absent nipple, Sparse eyebr... ORPHA:69085
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Weight loss ORPHA:141152
Nodular Non-Suppurative Panniculitis
Splenomegaly, Erythema, Weight loss, Panniculitis, Inflammatory abnormality of the eye ORPHA:33577
Scarf Syndrome
Sparse hair, Hypoplastic nipples, Cutis laxa, Low posterior hairline ORPHA:3134
Koolen-De Vries Syndrome
Ichthyosis, Hypopigmentation of hair, Dry skin, Abnormality of hair texture ORPHA:96169
Subacute Cutaneous Lupus Erythematosus
Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Cutaneous photosensitivity, V... ORPHA:163525
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss ORPHA:298
Reticular Dysgenesis
Skin rash, Skin ulcer, Weight loss, Chronic otitis media, Failure to thrive, Aplasia/Hypoplasia o... ORPHA:33355
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Eczema, Failure to thrive in infancy, Erythroderma OMIM:619510
Whipple Disease
Myositis, Pericarditis, Cachexia, Myocarditis, Mediastinal lymphadenopathy, Splenomegaly, Uveitis... ORPHA:3452
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Woolly hair OMIM:610193
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Alopecia, Acne, Hirsutism ORPHA:90795
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Alopecia, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Thymom... ORPHA:227982
Atypical Werner Syndrome
Abnormal hair quantity, Alopecia, Failure to thrive, Prematurely aged appearance, Prominent super... ORPHA:79474
Ogden Syndrome
Cutis laxa, Aplasia/Hypoplasia of the eyebrow, Fine hair ORPHA:276432
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Synophrys, Facial erythema, Scaling skin, Chronic otitis media, Thoracic hypertrichosis, Medial f... OMIM:619503
Down Syndrome
Sparse hair, Abnormality of the lymphatic system, Prematurely aged appearance, Obesity ORPHA:870
Subcorneal Pustular Dermatosis
Pruritus, Erythema, Pustule, Rheumatoid arthritis ORPHA:48377
Intellectual Developmental Disorder, Autosomal Dominant 54
Anhidrosis, Small for gestational age, Thin nail, Eczema, Sparse hair, Dry skin OMIM:617799
Gapo Syndrome
Prominent scalp veins, Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, Hypoplastic ni... OMIM:230740
Peeling Skin Syndrome 5
Hyperkeratosis, Scaling skin OMIM:617115
Milroy Disease
Toenail dysplasia, Hyperkeratosis, Erysipelas ORPHA:79452
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Large for gestational age ORPHA:457485
Chikungunya
Maculopapular exanthema, Skin rash, Pruritus, Erythema nodosum, Cervical lymphadenopathy, Crustin... ORPHA:324625
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Weight loss, Cachexia, Lymphadenopathy ORPHA:83469
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Sparse hair, Dermal translucency, Cutis laxa, Decreased body weight OMIM:615349
Diamond-Blackfan Anemia 21
Cutis marmorata, Synophrys, Widow's peak, Obesity, Coarse hair, Horizontal eyebrow OMIM:620072
Gm1 Gangliosidosis
Thickened skin, Patent ductus arteriosus, Splenomegaly, Hepatosplenomegaly, Weight loss, Aspirati... ORPHA:354
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Erythema, Uvei... ORPHA:32960
Proteus Syndrome
Thymus hyperplasia, Cachexia, Neoplasm of the thymus, Thickened skin, Splenomegaly, Abnormal subc... ORPHA:744
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair OMIM:614091
Intellectual Disability, Buenos-Aires Type
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair ORPHA:3079
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair, Failure to thrive OMIM:300986
Mogs-Cdg
Alopecia, Hepatosplenomegaly, Long eyelashes, Fair hair, Hirsutism ORPHA:79330
Orofaciodigital Syndrome Type 3
Abnormality of hair texture ORPHA:2752
Neuropathy, Hereditary Sensory, Type If
Hyperkeratosis, Osteomyelitis OMIM:615632
Cartilage-Hair Hypoplasia
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair OMIM:250250
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Cutis laxa, Thick eyebrow, Fine hair OMIM:614800
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Supernumerary nipple, Hypohidrosis, Aplastic/hypoplastic toenail, Fine hair, Dry skin, Aplasia/Hy... ORPHA:1812
Oculodentodigital Dysplasia, Autosomal Recessive
Sparse hair, Failure to thrive, Sparse eyelashes, Fine hair OMIM:257850
Schwartz-Jampel Syndrome
Abnormal eyebrow morphology, Decreased body weight, Cachexia, Low anterior hairline, Long eyelash... ORPHA:800
Idiopathic Achalasia
Recurrent aspiration pneumonia, Weight loss ORPHA:930
Encephalocraniocutaneous Lipomatosis
Alopecia, Subcutaneous lipoma OMIM:613001
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Fine hair ORPHA:363686
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Alopecia totalis OMIM:618775
Snakebite Envenomation
Ecchymosis, Angioedema, Erythema ORPHA:449285
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Jaundice, Recurrent cutaneous fungal i... ORPHA:276
Punctate Palmoplantar Keratoderma Type 1
Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Orthokera... ORPHA:79501
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Prematurely aged appearance, Skin rash, Cachexia, Dry skin, Urticaria, Cutaneous photosensitivity ORPHA:220295
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Trichohepatoneurodevelopmental Syndrome
Curly hair, Pruritus, Splenomegaly, Synophrys, Patent ductus arteriosus, Coarse hair, Recurrent p... OMIM:618268
Hallermann-Streiff Syndrome
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Uveitis, Sparse hair, Sp... ORPHA:2108
Fucosidosis
Failure to thrive, Vascular skin abnormality, Hyperhidrosis, Acrocyanosis, Generalized hyperkerat... ORPHA:349
Lysinuric Protein Intolerance
Splenomegaly, Fine hair, Cutis laxa, Truncal obesity, Sparse hair, Failure to thrive, Pancreatitis OMIM:222700
Adrenocortical Carcinoma
Increased body weight, Hyperhidrosis, Weight loss, Striae distensae, Hypertrichosis ORPHA:1501
Toxic Epidermal Necrolysis
Acantholysis, Erythema, Skin ulcer, Weight loss, Conjunctivitis, Pancreatitis ORPHA:537
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Sparse scalp hair, Alopecia, Acanthosis nigricans, Onychogry... OMIM:248370
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Classic Hodgkin Lymphoma
Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Hyperhidrosis, Weight loss, Bone marrow hypoc... ORPHA:391
Marshall Syndrome
Sparse eyelashes, Sparse eyebrow, Osteoarthritis, Hypohidrosis, Sparse hair ORPHA:560
Vitamin D-Dependent Rickets, Type 2A
Failure to thrive, Alopecia universalis OMIM:277440
Tuberculosis
Weight loss ORPHA:3389
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic sweat glands, Epidermal thick... ORPHA:73223
Galloway-Mowat Syndrome 9
Coarse hair OMIM:619603
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Palmoplantar keratoderma, Weight loss ORPHA:2198
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Scleroderma, Premature ... ORPHA:363618
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Eczema, Seborrheic dermatitis, Obesity, Failure to thrive, Thick eyebrow ORPHA:369950
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Scarf Syndrome
Low anterior hairline, Cutis laxa, Low posterior hairline, Hypoplastic nipples, Sparse hair OMIM:312830
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Curly hair, Dermal translucency, Slow-growing hair, Highly arched eyebrow, Patent ductus arterios... OMIM:617506
De Barsy Syndrome
Progeroid facial appearance, Patent ductus arteriosus, Prominent veins on trunk, Cutis laxa, Exce... ORPHA:2962
Rheumatic Fever
Pericarditis, Sinusitis, Myocarditis, Erythema, Endocarditis, Arthritis, Pallor ORPHA:3099
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Sparse eyelashes, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline OMIM:250410
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... ORPHA:2232
Stevens-Johnson Syndrome
Acantholysis, Erythema, Weight loss, Conjunctivitis, Pancreatitis ORPHA:36426
Congenital Disorder Of Glycosylation, Type Iia
Hirsutism, Long eyelashes, Sparse hair, Failure to thrive, Thick eyebrow OMIM:212066
Cerebrofaciothoracic Dysplasia
Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow ORPHA:1394
Glutamine Deficiency, Congenital
Erythema OMIM:610015
Acrofacial Dysostosis, Catania Type
Coarse hair, Abnormal hair pattern ORPHA:1786
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Recurrent pneumonia, Erythem... ORPHA:420741
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Sparse body hair ORPHA:3068
Scalp-Ear-Nipple Syndrome
Sparse axillary hair, Sparse pubic hair, Thickened skin, Pyelonephritis, Fine hair, Hypohidrosis,... OMIM:181270
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Patent ductus arteriosus, Fine hair, Truncal obesity, Dry skin, Aplasia/Hypoplasia of the eyebrow ORPHA:2637
Hereditary Sensory And Autonomic Neuropathy Type 1
Osteomyelitis, Poor wound healing, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis ORPHA:36386
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Nephritis, Infectious... ORPHA:2552
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Coarse hair, Bruising susceptibility, Nail dysplasia OMIM:612394
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Splenomegaly, Erythema, Lymphadenopathy, Panniculitis OMIM:619183
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Curly hair, Redundant neck skin, Highly arched eyebrow, Low posterior hairline, Thick eyebrow OMIM:617360
Congenital Disorder Of Glycosylation, Type Iil
Splenomegaly, Patent ductus arteriosus, Dry skin, Hypohidrosis, Hyperkeratosis, Inflammation of t... OMIM:614576
Osteogenesis Imperfecta, Type Xx
Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow OMIM:618644
Distal Deletion 19P
Alopecia, Thick eyebrow ORPHA:96129
Complete Androgen Insensitivity Syndrome
Acne, Sparse axillary hair, Sparse pubic hair, Absent pubic hair, Absent axillary hair ORPHA:99429
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hyperkeratosis, High anterior hairline, Hypohidrosis OMIM:615510
Tyrosinemia Type 2
Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail, Hyperhidrosis ORPHA:28378
Leigh Syndrome
Alopecia, Eczema, Frontal hirsutism, Failure to thrive, Hypertrichosis ORPHA:506
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hyperkeratosis, Telangiectasia of the skin, Telangiectasia ORPHA:79279
Insulin Autoimmune Syndrome
Acanthosis nigricans, Arthralgia/arthritis, Weight loss ORPHA:411593
Mucolipidosis Type Ii
Dry hair, Thickened skin, Splenomegaly, White hair, Fine hair, Hepatosplenomegaly, Weight loss, O... ORPHA:576
Hallermann-Streiff Syndrome
Sparse scalp hair, Sparse eyelashes, Small for gestational age, Sparse eyebrow, Recurrent pneumon... OMIM:234100
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hyperhidrosis, Thickened skin, Acne, Seborrheic dermatitis OMIM:614441
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Curly hair ORPHA:85184
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Small for gestational age, Nail dysplasia, Small nail, Sparse hair, Failure to thrive, Breast hyp... OMIM:614813
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Epidermodysplasia Verruciformis
Pustule, Telangiectasia of the skin, Recurrent skin infections, Seborrheic dermatitis ORPHA:302
Wolman Disease
Splenomegaly, Cachexia ORPHA:75233
Ritscher-Schinzel Syndrome 4
Curly hair OMIM:619435
Weaver Syndrome
Deep-set nails, Thin nail, Patent ductus arteriosus, Fine hair, Cutis laxa, Sparse hair OMIM:277590
Classical-Like Ehlers-Danlos Syndrome Type 2
Alopecia, Redundant skin, Prominent veins on trunk, Keratoconjunctivitis sicca, Periodontitis, Br... ORPHA:536532
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteomyelitis, Skin rash, Failure to thrive in infancy, Pustule, Splenomegaly, Hyperkeratosis, St... OMIM:612852
Basel-Vanagaite-Smirin-Yosef Syndrome
Sparse hair, Recurrent pneumonia OMIM:616449
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Failure to thrive, Recurrent skin infections, Pneumonia, Paronychia, Fragile skin, Rena... ORPHA:79404
Bainbridge-Ropers Syndrome
Highly arched eyebrow, Supernumerary nipple, Synophrys, Hirsutism, Long eyelashes, Thin eyebrow, ... OMIM:615485
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture, Splenomegaly, Lymphadenopathy, Pallor, Chronic rhinitis, Otitis medi... ORPHA:667
Menkes Disease
Hypopigmentation of hair, Osteomyelitis, Thickened skin, Spontaneous hematomas, Prolonged neonata... ORPHA:565
Fowler Urethral Sphincter Dysfunction Syndrome
Acne, Hirsutism ORPHA:2795
Short Stature, Microcephaly, And Endocrine Dysfunction
Sparse hair, Truncal obesity, Acanthosis nigricans OMIM:616541
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Nai... OMIM:129900
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Trichiasis, Acantho... ORPHA:95455
Mucopolysaccharidosis, Type Iiid
Thick eyebrow, Splenomegaly, Synophrys, Coarse hair, Facial hirsutism, Recurrent otitis media, Hi... OMIM:252940
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Highly arched eyebrow, Splenomegaly, Hepatosplenomegaly, Fine hair, Low posterior hairline, Spars... OMIM:613563
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Anhidrosis, Dry hair, Small for gestational age, Prematurely... OMIM:133540
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Cachexia ORPHA:93941
Leprechaunism
Reduced subcutaneous adipose tissue, Thickened skin, Acanthosis nigricans, Hyperkeratosis, Decrea... ORPHA:508
Ablepharon Macrostomia Syndrome
Absent eyebrow, Redundant skin, Abnormal hair pattern, Absent eyelashes, Fine hair, Excessive wri... ORPHA:920
Immunodeficiency 25
Recurrent pneumonia, Erythroderma OMIM:610163
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Weight loss ORPHA:100083
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Eczema, Synophrys, Sparse hair, Chronic otitis media, Toenail dysplasia, Hirsutism OMIM:300966
Familial Mediterranean Fever
Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Erythema, Lymphaden... ORPHA:342
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Weight loss ORPHA:79238
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Interstitial pn... ORPHA:454831
Pemphigus Erythematosus
Malar rash, Acantholysis ORPHA:79480
White-Sutton Syndrome
Sparse hair, Patent ductus arteriosus, Failure to thrive, Obesity OMIM:616364
Linear Nevus Sebaceus Syndrome
Alopecia ORPHA:2612
Cole Disease
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... OMIM:615522
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Nai... OMIM:604292
Silver-Russell Syndrome
Failure to thrive in infancy, Obesity, Cachexia, Hyperhidrosis ORPHA:813
Blau Syndrome
Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, Erythema nodosum, Iridocyclitis, ... ORPHA:90340
Bloom Syndrome
Skin rash, Pneumonia, Sparse eyelashes, Small for gestational age, Paronychia, Recurrent tonsilli... ORPHA:125
Koolen-De Vries Syndrome Due To A Point Mutation
Alopecia, Small for gestational age, Eczema, Hyperkeratosis, Ectodermal dysplasia, Ichthyosis, Re... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Alopecia, Small for gestational age, Eczema, Hyperkeratosis, Ectodermal dysplasia, Ichthyosis, Re... ORPHA:363958
Autoinflammation With Arthritis And Dyskeratosis
Splenomegaly, Thyroiditis, Uveitis, Palmoplantar hyperkeratosis, Dry skin, Keratoconjunctivitis s... OMIM:617388
Schimke Immunoosseous Dysplasia
Coarse hair, Small for gestational age, Fine hair OMIM:242900
Syndromic Recessive X-Linked Ichthyosis
Ichthyosis, Hyperkeratosis, Hypohidrosis ORPHA:281090
Sunct Syndrome
Flushing, Episodic hyperhidrosis, Facial erythema, Hyperhidrosis ORPHA:57145
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Overweight, Dry skin, Follicular hyperkeratosis ORPHA:486815
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Sparse scalp hair, Decreased adipose tissue around neck, Sma... OMIM:606721
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia ORPHA:702
Allergic Bronchopulmonary Aspergillosis
Abnormal fingernail morphology, Bronchiectasis, Weight loss ORPHA:1164
Familial Tumoral Calcinosis
Splenomegaly, Erythema, Skin rash, Hyperhidrosis ORPHA:53715
Mycetoma
Recurrent bacterial skin infections, Prominent superficial veins, Osteomyelitis, Abnormality of t... ORPHA:2583
Mosaic Variegated Aneuploidy Syndrome 2
Sparse hair, Small for gestational age OMIM:614114
Oculodentodigital Dysplasia
Dry hair, Slow-growing hair, Uveitis, Fine hair, Sparse hair, Fragile nails OMIM:164200
Cerebellar-Facial-Dental Syndrome
Sparse hair, Failure to thrive, Sparse eyebrow, Fine hair ORPHA:444072
Colchicine Poisoning
Myocarditis, Alopecia ORPHA:31824
Nablus Mask-Like Facial Syndrome
Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Sparse eyebrow, Low anterior hairline,... OMIM:608156
Glass Syndrome
Sparse hair, Long eyelashes, Nail dysplasia OMIM:612313
X-Linked Creatine Transporter Deficiency
Redundant skin, Cachexia ORPHA:52503
Sialidosis Type 1
Splenomegaly, Hyperkeratosis, Vascular skin abnormality ORPHA:812
46,Xy Sex Reversal 6
Hirsutism, Sparse axillary hair OMIM:613762
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Erythema, Enterocolitis, Ulcerative colitis OMIM:614878
Hajdu-Cheney Syndrome
Abnormal fingernail morphology, Thickened skin, Synophrys, Patent ductus arteriosus, Low anterior... ORPHA:955
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Low anterior hairline OMIM:618569
Dubowitz Syndrome
Sparse scalp hair, Abnormal fingernail morphology, Eczema, Cutis marmorata, Hypoplastic toenails,... ORPHA:235
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Erythema, Skin rash OMIM:618321
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, En... OMIM:209950
Letterer-Siwe Disease
Seborrheic dermatitis, Jaundice, Hepatosplenomegaly, Pallor, Stomatitis OMIM:246400
Mucopolysaccharidosis, Type Vii
Splenomegaly, Hirsutism, Coarse hair, Recurrent otitis media, Thick eyebrow OMIM:253220
Phosphoribosylpyrophosphate Synthetase Superactivity
Sparse hair, Small for gestational age, Gout OMIM:300661
Acrokeratoelastoidosis Of Costa
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratotic papule, Palmar hyper... ORPHA:38
Genitopatellar Syndrome
Sparse scalp hair, Fine hair ORPHA:85201
Bannayan-Riley-Ruvalcaba Syndrome
Cutis marmorata, Cachexia, Telangiectasia, Hashimoto thyroiditis, Subcutaneous hemorrhage ORPHA:109
Hamamy Syndrome
Sparse eyelashes, Sparse eyebrow, Low posterior hairline, Sparse hair, Abnormal number of hair wh... OMIM:611174
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Large for gestational age, Palmoplantar hyperkeratosis, Fine hair, Hypopla... OMIM:280000
Woodhouse-Sakati Syndrome
Sparse hair, Alopecia, Fine hair OMIM:241080
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Xfe Progeroid Syndrome
Failure to thrive, Prematurely aged appearance, Cachexia, Cutaneous photosensitivity, Dry skin OMIM:610965
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Anhidrosis, Dry hair, Prematurely aged appearance, Progeroid... OMIM:216400
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Trisomy 20P
Thick hair, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Coarse hair, Th... ORPHA:261318
Restrictive Dermopathy
Short nail, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat gl... ORPHA:1662
Erythroderma Desquamativum
Failure to thrive, Seborrheic dermatitis ORPHA:314
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Sparse hair, Fine hair ORPHA:251028
Neurocardiofaciodigital Syndrome
Small for gestational age, Sparse eyebrow, Patent ductus arteriosus, Sparse hair, Failure to thrive OMIM:619869
Teebi-Shaltout Syndrome
Sparse hair, Low anterior hairline, Highly arched eyebrow, Slow-growing hair OMIM:272950
2P15P16.1 Microdeletion Syndrome
Supernumerary nipple, Sparse eyebrow, Fine hair, Long eyelashes, Failure to thrive ORPHA:261349
Goldberg-Shprintzen Syndrome
Sparse hair, Synophrys, Thick eyebrow, Highly arched eyebrow OMIM:609460
Dyskeratosis Congenita, X-Linked
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Pterygium of nails, Hyperhidrosis, Premature... OMIM:305000
Huntington Disease-Like 2
Weight loss ORPHA:98934
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Wilson Disease
Pruritus, Splenomegaly, Jaundice, Hepatitis, Increased body weight, Weight loss, Arthritis, Acute... ORPHA:905
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Sparse body hair, Breast hypoplasia ORPHA:432
Cerebellofaciodental Syndrome
Sparse eyebrow, Fine hair OMIM:616202
Mullerian Aplasia And Hyperandrogenism
Acne, Hirsutism OMIM:158330
Scalp-Ear-Nipple Syndrome
Abnormal fingernail morphology, Hypohidrosis, Pyelonephritis, Breast aplasia, Sparse hair ORPHA:2036
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Hyperhidrosis, Thickened skin, Acne, Seborrheic dermatitis OMIM:167100
Graves Disease, Susceptibility To, 1
Weight loss, Onycholysis, Hyperhidrosis OMIM:275000
Aggressive Systemic Mastocytosis
Maculopapular exanthema, Pruritus, Hypersplenism, Lymphadenopathy, Hepatosplenomegaly, Weight los... ORPHA:98850
Lateral Meningocele Syndrome
Patent ductus arteriosus, Coarse hair OMIM:130720
Opitz-Kaveggia Syndrome
Sparse hair, Frontal upsweep of hair, Facial wrinkling, Fine hair OMIM:305450
Lysosomal Acid Lipase Deficiency
Cachexia, Pruritus, Hypersplenism, Jaundice, Hepatosplenomegaly, Weight loss, Failure to thrive ORPHA:275761
Trisomy 18
Abnormal toenail morphology, Cachexia ORPHA:3380
Irida Syndrome
Hyperkeratosis, Pallor, Ichthyosis ORPHA:209981
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair ORPHA:935
Pfapa Syndrome
Splenomegaly, Weight loss, Lymphadenopathy, Arthritis, Infectious encephalitis ORPHA:42642
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Failure to thrive, Patchy alopecia, Thick eyebrow, Decreased body weight OMIM:300534
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Chand Syndrome
Curly hair, Dry skin, Nail dysplasia, Hypohidrosis ORPHA:1401
Intellectual Developmental Disorder, Autosomal Dominant 68
Sparse hair, Patent ductus arteriosus OMIM:619934
African Trypanosomiasis
Pericarditis, Alopecia, Keratitis, Myocarditis, Pruritus, Splenomegaly, Jaundice, Lymphadenopathy... ORPHA:3385
Bartsocas-Papas Syndrome 1
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Dry skin, Small ... OMIM:263650
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Facial erythema OMIM:618307
Follicular Lymphoma
Weight loss, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Craniofrontonasal Syndrome
Ridged nail, Curly hair, Split nail, Widow's peak, Low posterior hairline, Unilateral breast hypo... OMIM:304110
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Frontal balding, Highly arched eyebrow, Patent ductus arteriosus, Synophrys, Truncal obesity, Lon... OMIM:612474
Kaposi Sarcoma
Abnormality of the spleen, Generalized lymphadenopathy, Skin rash, Weight loss ORPHA:33276
Gaucher Disease, Perinatal Lethal
Splenomegaly, Hepatosplenomegaly, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderm... OMIM:608013
Kaufman Oculocerebrofacial Syndrome
Sparse hair, Failure to thrive, Sparse eyebrow OMIM:244450
Lenz-Majewski Hyperostotic Dwarfism
Prominent scalp veins, Cutis marmorata, Cutis laxa, Sparse hair, Failure to thrive OMIM:151050
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Large for gestational age, Seborrheic dermatitis, Patent ductus arteriosus, Small nail, Ichthyosis OMIM:300868
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Weight loss, Arthritis, Inflam... ORPHA:324964
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Weight loss, Lymphadenopathy, Bone marrow hypocellularity, Pallor, Chronic otitis m... ORPHA:3226
Candidiasis, Familial, 8
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis OMIM:615527
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Hypoplastic toenai... ORPHA:444077
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak ORPHA:1974
Rett Syndrome
Cachexia OMIM:312750
Orofaciodigital Syndrome I
Sparse hair, Alopecia, Dry hair OMIM:311200
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Failure to thrive, Absent nipple, Small f... OMIM:612289
Isaacs Syndrome
Weight loss, Hyperhidrosis ORPHA:84142
Myhre Syndrome
Small for gestational age, Thickened skin, Patent ductus arteriosus, Obesity, Fine hair, Sparse h... OMIM:139210
Mandibuloacral Dysplasia Progeroid Syndrome
Progeroid facial appearance, Sparse eyebrow, Palmoplantar hyperkeratosis, Nail dystrophy, Sparse ... OMIM:619127
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashe... OMIM:264090
Costello Syndrome
Deep-set nails, Curly hair, Redundant neck skin, Thin nail, Concave nail, Acanthosis nigricans, S... OMIM:218040
Cushing Syndrome Due To Ectopic Acth Secretion
Plethora, Sparse scalp hair, Purpura, Striae distensae, Acne, Dorsocervical fat pad, Poor wound h... ORPHA:99889
Mu-Heavy Chain Disease
Splenomegaly, Weight loss, Lymphadenopathy ORPHA:100024
Leishmaniasis
Splenomegaly, Skin ulcer, Weight loss, Lymphadenopathy, Rhinitis, Pallor ORPHA:507
6Q Terminal Deletion Syndrome
Highly arched eyebrow, Low anterior hairline, Obesity, Hyperkeratosis, Failure to thrive ORPHA:75857
Noonan Syndrome
Abnormal hair quantity, Abnormality of the spleen, Abnormality of the lymphatic system, Low poste... ORPHA:648
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Redundant neck skin, Eczema, Obesity, Sparse hair, Frontal hirsutism, Failure to thrive OMIM:617157
Gcgr-Related Hyperglucagonemia
Stomatitis, Necrolytic migratory erythema ORPHA:438274
Cranioectodermal Dysplasia 2
Sparse eyelashes, Cholangitis, Sparse eyebrow, Splenomegaly, Patent ductus arteriosus, Recurrent ... OMIM:613610
Microphthalmia With Linear Skin Defects Syndrome
Abnormal eyelash morphology, Erythema, Failure to thrive, Abnormality of the nail ORPHA:2556
Cranioectodermal Dysplasia 1
Slow-growing hair, Short nail, Thin nail, Fine hair, Tubulointerstitial nephritis, Ectodermal dys... OMIM:218330
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Seborrheic dermatitis, Splenomegaly, Truncal obesity, Aspiration pneumonia, Ichthyosis OMIM:301072
Adams-Oliver Syndrome 1
Alopecia, Cutis marmorata, Supernumerary nipple, Small nail OMIM:100300
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Takayasu Arteritis
Increased inflammatory response, Skin ulcer, Hyperhidrosis, Weight loss, Arthritis, Inflammatory ... ORPHA:3287
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Erythroderma OMIM:617425
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Encephalocraniocutaneous Lipomatosis
Abnormal eyelash morphology, Alopecia ORPHA:2396
Mast Cell Sarcoma
Weight loss, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Mucopolysaccharidosis Type 3
Thick hair, Adenoiditis, Splenomegaly, Synophrys, Recurrent tonsillitis, Coarse hair, Otitis medi... ORPHA:581
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Adrenomyeloneuropathy
Frontal balding, Fine hair ORPHA:139399
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Cutis marmorata, Myocarditis, En... ORPHA:183
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Sarcoidosis
Alopecia, Maculopapular exanthema, Erythema nodosum, Bronchiectasis, Uveitis, Lymphadenopathy, Ab... ORPHA:797
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ja... ORPHA:39812
Mednik Syndrome
Hyperkeratosis, Ichthyosis ORPHA:171851
Stuve-Wiedemann Syndrome 1
Sparse hair, Premature skin wrinkling, Hyperhidrosis OMIM:601559
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia, Weight loss ORPHA:98897
Distal Deletion 12Q
Late onset atopic dermatitis, Failure to thrive in infancy, Patent ductus arteriosus, Obesity, Fi... ORPHA:96149
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hyperkeratosis OMIM:145250
Transketolase Deficiency
Patent ductus arteriosus, Conjunctivitis, Uveitis, Seborrheic dermatitis ORPHA:488618
Ullrich Congenital Muscular Dystrophy 1
Failure to thrive, Slender build, Follicular hyperkeratosis, Hyperhidrosis OMIM:254090
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Dry skin, Fine hair, Hyperkeratosis, Prolong... OMIM:210710
Acute Adrenal Insufficiency
Dry skin, Failure to thrive, Sparse axillary hair, Weight loss ORPHA:95409
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis OMIM:148600
Woodhouse-Sakati Syndrome
Alopecia, Scaling skin, Aplasia/Hypoplasia of the eyebrow ORPHA:3464
Acute Myelomonocytic Leukemia
Pallor, Weight loss ORPHA:517
Felty Syndrome
Episcleritis, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Synovitis, Lymphadenopa... ORPHA:47612
Autosomal Recessive Robinow Syndrome
Chronic otitis media, Alopecia, Long eyelashes, Fingernail dysplasia ORPHA:1507
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Weight loss, Arthritis, Keratoconj... OMIM:617321
Phakomatosis Pigmentokeratotica
Patchy alopecia, Hyperhidrosis ORPHA:2874
Chronic Hiccup
Weight loss ORPHA:396
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Abdominal obesity OMIM:619321
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Poor wound healing, Splenomegaly, Abnormality of the spleen, Skin ulcer, Hepatosplenome... ORPHA:2072
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Pustule, Recurrent tonsillitis, Atopic dermatitis, W... ORPHA:171876
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Sparse hair, Patent ductus arteriosus, Accessory spleen OMIM:620005
Bone Dysplasia, Lethal Holmgren Type
Redundant neck skin, Patent ductus arteriosus, Failure to thrive, Weight loss ORPHA:1842
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Redundant skin, Absent eyelashes, Hypoplastic nipples, Sparse hair, Premature ski... OMIM:200110
Occipital Horn Syndrome
Coarse hair, Bruising susceptibility, Pili torti, Redundant skin OMIM:304150
Benign Recurrent Intrahepatic Cholestasis
Pruritus, Jaundice, Pancreatitis, Weight loss ORPHA:65682
Pleural Mesothelioma
Weight loss, Lymphadenopathy ORPHA:50251
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Sparse hair, Patent ductus arteriosus, Nail dysplasia OMIM:616682
Addison Disease
Sparse axillary hair, Thymoma, Weight loss, Dry skin, Failure to thrive, Hashimoto thyroiditis ORPHA:85138
Melnick-Needles Syndrome
Recurrent otitis media, Coarse hair, Failure to thrive, Frontal hirsutism OMIM:309350
22Q11.2 Deletion Syndrome
Acne, Abnormality of the tonsils, Seborrheic dermatitis, Splenomegaly, Patent ductus arteriosus, ... ORPHA:567
Tempi Syndrome
Telangiectasia, Facial erythema ORPHA:284227
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cutaneous photosensitivity, Cachexia ORPHA:3217
Pseudomyxoma Peritonei
Inflammation of the large intestine, Weight loss, Lymphadenopathy ORPHA:26790
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Erythema, Pallor, Punctate keratitis, Failure to thrive OMIM:557000
Glucagonoma
Skin rash, Necrolytic migratory erythema, Pruritus, Weight loss, Intermittent jaundice, Stomatiti... ORPHA:97280
Cartilage-Hair Hypoplasia
Sparse hair, Failure to thrive, Sparse eyebrow ORPHA:175
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Autosomal Dominant Robinow Syndrome
Alopecia, Curly eyelashes, Long eyelashes, Fingernail dysplasia, Ridged fingernail, Onychogryposi... ORPHA:3107
Warburg-Cinotti Syndrome
Poor wound healing, Erythema, Follicular hyperkeratosis OMIM:618175
Noonan Syndrome 1
Failure to thrive in infancy, Patent ductus arteriosus, Synovitis, Low posterior hairline, Woolly... OMIM:163950
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Splenomegaly, Lymph node hypoplasia, Otitis media, Failure to thrive OMIM:613179
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Reduced subcutaneous adipose tissue, Curly hair, Prematurely aged appearance, Low anterior hairli... OMIM:619950
Acute Promyelocytic Leukemia
Weight loss, Lymphadenopathy, Stomatitis, Ecchymosis, Bruising susceptibility, Petechiae, Purpura ORPHA:520
Q Fever
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditis, Splenomegaly, Hepat... ORPHA:781
Coffin-Lowry Syndrome
Cutis marmorata, Highly arched eyebrow, Cutis laxa, Hyperconvex fingernails, Coarse hair, Decreas... OMIM:303600
Restrictive Dermopathy 1
Prominent superficial blood vessels, Sparse eyelashes, Short nail, Epidermal hyperkeratosis, Abse... OMIM:275210
Lymphatic Malformation 12
Hyperkeratosis OMIM:620014
Thymic Carcinoma
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss, Hyperhidrosis ORPHA:99868
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Erythema, Hyperhidrosis OMIM:614653
Hutchinson-Gilford Progeria Syndrome
Absent eyebrow, Prominent superficial blood vessels, Cyanosis, Alopecia totalis, Osteoarthritis, ... ORPHA:740
Wrinkly Skin Syndrome
Redundant skin, Short nail, Progeroid facial appearance, Neonatal wrinkled skin of hands and feet... OMIM:278250
Huntington Disease-Like 2
Weight loss OMIM:606438
Juvenile Polyposis Of Infancy
Patent ductus arteriosus, Subcutaneous lipoma, Cachexia ORPHA:79076
Wrinkly Skin Syndrome
Excessive skin wrinkling on dorsum of hands and fingers, Prominent veins on trunk, Cutis laxa, Ex... ORPHA:2834
Non-Functioning Paraganglioma
Flushing, Episodic hyperhidrosis, Pallor, Weight loss ORPHA:94080
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Sparse eyebrow, Prolonged neonatal jaundice, Hypoplastic ni... OMIM:620186
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hyperkeratosis ORPHA:163966
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Lymph node... OMIM:300755
Juvenile Huntington Disease
Weight loss ORPHA:248111
Inflammatory Bowel Disease (Crohn Disease) 1
Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatit... OMIM:266600
Lymphoid Interstitial Pneumonia
Skin rash, Eczema, Mediastinal lymphadenopathy, Bronchiectasis, Weight loss, Keratoconjunctivitis... ORPHA:79128
Eosinophilic Fasciitis
Fasciitis, Myositis, Weight loss, Arthritis, Acrocyanosis ORPHA:3165
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Prominent scalp veins, Dermal translucenc... ORPHA:3455
Angioedema, Hereditary, 1
Angioedema, Erythema OMIM:106100
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Sparse pubic hair, Failure to thrive, Sparse body hair, Sparse axillary hair ORPHA:90796
Cockayne Syndrome Type 3
Dry hair, Splenomegaly, Premature graying of hair, Keratoconjunctivitis sicca, Cutaneous photosen... ORPHA:90324
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Sparse scalp hair, Redundant skin in infancy, Recurrent pneumonia, Dry skin, H... OMIM:150230
Rhabdoid Tumor
Weight loss, Lymphadenopathy ORPHA:69077
Occipital Horn Syndrome
Thick hair, Jaundice, Hepatitis, Coarse hair, Esophagitis, Bruising susceptibility ORPHA:198
Ogden Syndrome
Redundant neck skin, Prematurely aged appearance, Eczema, Redundant skin, Facial wrinkling, Spars... OMIM:300855
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion OMIM:616298
Idiopathic Chronic Eosinophilic Pneumonia
Generalized abnormality of skin, Atopic dermatitis, Weight loss ORPHA:2902
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Hyperkeratosis, Pilomatrixoma OMIM:620189
Chilton-Okur-Chung Neurodevelopmental Syndrome
Sparse scalp hair, Highly arched eyebrow, Sparse eyebrow, Synophrys, Patent ductus arteriosus, Lo... OMIM:619841
Ring Chromosome 13 Syndrome
Alopecia ORPHA:96176
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow ORPHA:2636
Lymphatic Filariasis
Glomerulonephritis, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis, Abnormality of th... ORPHA:2035
Zttk Syndrome
Curly hair, Sparse eyebrow, Patent ductus arteriosus, Failure to thrive, Broad eyebrow OMIM:617140
Zollinger-Ellison Syndrome
Jaundice, Erythema, Esophagitis, Weight loss ORPHA:913
Turner Syndrome Due To Structural X Chromosome Anomalies
Alopecia, Abnormal fingernail morphology, Failure to thrive in infancy, Hypoplastic toenails, Thy... ORPHA:99413
Mosaic Monosomy X
Alopecia, Abnormal fingernail morphology, Failure to thrive in infancy, Hypoplastic toenails, Thy... ORPHA:99228
Monosomy X
Alopecia, Abnormal fingernail morphology, Failure to thrive in infancy, Hypoplastic toenails, Thy... ORPHA:99226
Turner Syndrome
Alopecia, Abnormal fingernail morphology, Failure to thrive in infancy, Hypoplastic toenails, Thy... ORPHA:881
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Kyphoscoliotic Ehlers-Danlos Syndrome
Poor wound healing, Synophrys, Follicular hyperkeratosis, Bruising susceptibility, Fragile skin ORPHA:536545
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Lymphocytic interstitial pneumonia, Weight loss ORPHA:133
Mednik Syndrome
Erythema, Ichthyosis OMIM:609313
Viss Syndrome
Chronic gastritis, Sparse scalp hair, Alopecia, Prominent superficial blood vessels, Eczema, Pate... OMIM:619472
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Pericarditis, Chilblains, Dry skin, Hepatosplenomegaly, Weight loss, Failure ... OMIM:619487
Vipoma
Intermittent jaundice, Erythema, Subcutaneous lipoma, Weight loss ORPHA:97282
Scorpion Envenomation
Acute pancreatitis, Myocarditis, Erythema, Hyperhidrosis, Purpura ORPHA:466677
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Neoplasm of the thymus, Mediastinal lymphadenopathy, Promi... ORPHA:97289
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pruritus, Splenomegaly, Weight loss, Lymphadenopathy, Urticaria, Pallor, Flushing ORPHA:98849
Marfan Syndrome
Striae distensae, Arthralgia/arthritis, Slender build, Cachexia ORPHA:558
Roberts Syndrome
Sparse hair ORPHA:3103
Brucellosis
Knee osteoarthritis, Hyperhidrosis, Infectious encephalitis, Epididymitis, Lymphadenopathy, Pneum... ORPHA:1304
Camurati-Engelmann Disease
Splenomegaly, Abnormal subcutaneous fat tissue distribution, Slender build, Cachexia ORPHA:1328
Tsh-Secreting Pituitary Adenoma
Abnormal hair quantity, Weight loss, Pallor, Hyperhidrosis ORPHA:91347
Thrombocytopenia-Absent Radius Syndrome
Hepatosplenomegaly, Patent ductus arteriosus, Seborrheic dermatitis OMIM:274000
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss, Bronchiectasis, Lymphadenopathy ORPHA:411703
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Coffin-Siris Syndrome 1
Sparse scalp hair, Dry hair, Cutis marmorata, Hypoplastic fifth fingernail, Patent ductus arterio... OMIM:135900
Hereditary Amyloidosis With Primary Renal Involvement
Weight loss, Abnormal lymph node morphology, Tubulointerstitial nephritis, Lymphadenopathy, Hepat... ORPHA:85450
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Pneumonia, Eczema, Splenomegaly, Peritonitis, Patent ductus arterios... OMIM:619991
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Acne, Frontal balding, Weight loss, Failure to thrive, Hirsutism ORPHA:90794
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Immunodeficiency 31C
Osteomyelitis, Eczema, Splenomegaly, Bronchiectasis, Chronic mucocutaneous candidiasis, Lymphaden... OMIM:614162
Multiple Endocrine Neoplasia Type 4
Thymoma, Erythema, Subcutaneous lipoma, Esophagitis ORPHA:276152
Bethlem Myopathy
Hyperkeratosis ORPHA:610
Oculocerebrorenal Syndrome Of Lowe
Sparse scalp hair, Cheilitis, Skin ulcer, Fine hair, Arthritis, Periodontitis, Chronic otitis med... ORPHA:534
Huntington Disease-Like 1
Weight loss ORPHA:157941
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Eosinophilic Gastroenteritis
Atopic dermatitis, Allergic rhinitis, Weight loss ORPHA:2070
Refractory Celiac Disease
Inflammatory abnormality of the skin, Abnormal spleen physiology, Weight loss ORPHA:398063
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Panniculitis, Skin ulcer, Hepatosplenomegaly ORPHA:86884
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Vascular skin abnormalit... ORPHA:91139
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Skin rash, Pneumonia, Chilblains, Splenomegaly, ... OMIM:615846
Cystinosis, Nephropathic
Hypopigmentation of hair, Failure to thrive in infancy, Splenomegaly, Weight loss, Hypohidrosis OMIM:219800
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Angiokeratoma ... ORPHA:79280
Stickler Syndrome
Cachexia, Osteoarthritis, Uveitis, Chronic otitis media, Slender build ORPHA:828
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Steinert Myotonic Dystrophy
Early balding, Alopecia ORPHA:273
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Focal Myositis
Myositis, Weight loss ORPHA:48918
Bronchial Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Pneumonia, Weight loss, Facial telangiectasia, Dermatologi... ORPHA:97287
Vascular Ehlers-Danlos Syndrome
Alopecia, Prematurely aged appearance, Redundant skin, Telangiectasia of the skin, Abnormality of... ORPHA:286
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Follicular hyperplasia... OMIM:619381
Kanzaki Disease
Telangiectasia of the oral mucosa, Lip telangiectasia, Angiokeratoma corporis diffusum, Hyperkera... OMIM:609242
Digeorge Syndrome
Acne, Seborrheic dermatitis, Splenomegaly, Patent ductus arteriosus, Recurrent pneumonia, Obesity... OMIM:188400
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Polycythemia Vera
Pruritus, Splenomegaly, Bruising susceptibility, Weight loss ORPHA:729
Fabry Disease
Conjunctival telangiectasia, Telangiectasia of the skin, Angiokeratoma, Hypohidrosis, Hyperkerato... ORPHA:324
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Pneumocystosis
Acute infectious pneumonia, Interstitial pneumonitis, Weight loss, Chronic oral candidiasis ORPHA:723
Anaplastic Thyroid Carcinoma
Weight loss, Lymphadenopathy ORPHA:142
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... ORPHA:117
Urachal Cyst
Peritonitis, Erythema ORPHA:488
Medullary Thyroid Carcinoma
Weight loss, Lymphadenopathy, Hyperhidrosis ORPHA:1332
Peripheral Primitive Neuroectodermal Tumor
Pruritus, Jaundice, Pancreatitis, Weight loss ORPHA:370348
Cystic Echinococcosis
Jaundice, Weight loss, Urticaria, Membranous nephropathy, Splenic cyst ORPHA:400
Witteveen-Kolk Syndrome
Medial flaring of the eyebrow, Small for gestational age, Hyperconvex nail, Eczema, Obesity, Fine... OMIM:613406
Menke-Hennekam Syndrome 1
Sparse hair, Long eyelashes, Thick eyebrow OMIM:618332
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss OMIM:191390
Primary Sclerosing Cholangitis
Spider hemangioma, Pruritus, Splenomegaly, Jaundice, Dilated superficial abdominal veins, Thyroid... ORPHA:171
Thymoma
Myositis, Glomerulonephritis, Ulcerative colitis, Weight loss, Rheumatoid arthritis, Scleroderma ORPHA:99867
Perry Syndrome
Weight loss ORPHA:178509
Branchiooculofacial Syndrome
Supernumerary nipple, Low posterior hairline, Premature graying of hair, White forelock, Sparse h... OMIM:113620
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Weight loss ORPHA:216866
Budd-Chiari Syndrome
Splenomegaly, Peritonitis, Jaundice, Weight loss, Cholecystitis ORPHA:131
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Uveitis, Enthesitis, Arthritis, He... ORPHA:85408
Granulomatosis With Polyangiitis
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Skin ulcer, Weight loss, Inf... ORPHA:900
Familial Thrombocytosis
Pruritus, Splenomegaly, Weight loss, Hyperhidrosis ORPHA:71493
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy, Facial telangiectasia, Weight loss ORPHA:100080
Nephroblastoma
Weight loss, Lymphadenopathy ORPHA:654
Osteootohepatoenteric Syndrome
Pruritus, Prolonged neonatal jaundice, Failure to thrive, Weight loss OMIM:619377
Sporadic Pheochromocytoma/Secreting Paraganglioma
Flushing, Episodic hyperhidrosis, Pallor, Weight loss ORPHA:276621
Cryptogenic Organizing Pneumonia
Cyanosis, Weight loss ORPHA:1302
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Patent ductus arteriosus, Bruising susceptibility, Follicular hyperkeratosis, Cutis laxa OMIM:614557
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Bronchiectasis, Weight loss ORPHA:79127
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Cap Polyposis
Atrophic gastritis, Weight loss ORPHA:160148
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss ORPHA:168811
Igg4-Related Retroperitoneal Fibrosis
Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Renal tubular epitheli... ORPHA:49041
Castleman Disease
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Jaundice, Weigh... ORPHA:160
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss, Abnormality of the lymphatic system, Abnormal lymph node morphology ORPHA:54251
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Curly hair, Patent ductus arteriosus, Hypoplastic nipples, Hypertrichosis ORPHA:480880
Primary Hepatic Neuroendocrine Carcinoma
Intermittent jaundice, Chronic noninfectious lymphadenopathy, Facial telangiectasia, Weight loss ORPHA:100085
Symptomatic Form Of Hfe-Related Hemochromatosis
Splenomegaly, Arthritis, Weight loss ORPHA:465508
Neuroendocrine Tumor Of The Rectum
Chronic noninfectious lymphadenopathy, Facial telangiectasia, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Chronic noninfectious lymphadenopathy, Facial telangiectasia, Weight loss ORPHA:100082
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Poor wound healing, Recurrent pneumonia, Excessive wrinkled skin, Follicular hyperkeratosis, Palm... OMIM:225400
Nocardiosis
Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Peritonitis, Thyroiditis, Endoc... ORPHA:31204
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Curly hair, Failure to thrive in infancy, Sparse eyebrow, Patent ductus arteriosus after birth at... ORPHA:500150
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Weight loss ORPHA:514
Secondary Short Bowel Syndrome
Failure to thrive, Enterocolitis, Weight loss ORPHA:95427
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Pancreatitis, Weight loss ORPHA:188
Alveolar Echinococcosis
Cholangitis, Jaundice, Weight loss, Abnormal spleen morphology, Cutaneous abscess ORPHA:284
Polymyositis
Arthritis, Pericarditis, Weight loss ORPHA:732
Baller-Gerold Syndrome
Erythema OMIM:218600
Igg4-Related Aortitis
Increased inflammatory response, Weight loss ORPHA:449400
Loeffler Endocarditis
Pericarditis, Weight loss ORPHA:75566
Caroli Disease
Cholangitis, Pruritus, Splenomegaly, Jaundice, Weight loss ORPHA:53035
8P23.1 Microdeletion Syndrome
Patent ductus arteriosus, Obesity, Weight loss ORPHA:251071
Congenital Tufting Enteropathy
Arthritis, Punctate keratitis, Failure to thrive, Weight loss ORPHA:92050
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Skin ulcer, Conjunctivitis, Chronic oti... OMIM:608710
Osteosarcoma
Weight loss ORPHA:668
Imerslund-Gräsbeck Syndrome
Pallor, Failure to thrive, Angular cheilitis, Weight loss ORPHA:35858
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, ... ORPHA:449395
Late-Onset Isolated Acth Deficiency
Hepatitis, Dry skin, Weight loss, Failure to thrive, Hashimoto thyroiditis ORPHA:199299
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Anhidrosis, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, ... OMIM:601803
Ménétrier Disease
Giant hypertrophic gastritis, Weight loss ORPHA:2494
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Weight loss, Abnormal lymphatic vessel morphology ORPHA:90362
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Pallor, Jaundice, Weight loss ORPHA:20
Malignant Atrophic Papulosis
Peritonitis, Telangiectasia of the skin, Arteritis, Weight loss ORPHA:679
Fatal Familial Insomnia
Weight loss, Hyperhidrosis OMIM:600072
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Hereditary Pheochromocytoma-Paraganglioma
Flushing, Episodic hyperhidrosis, Pallor, Weight loss ORPHA:29072
Neuroendocrine Tumor Of Stomach
Dermatological manifestations of systemic disorders, Chronic noninfectious lymphadenopathy, Facia... ORPHA:100075
Malt Lymphoma
Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Hyperhidrosis, Posterior uveitis ORPHA:52417
Primrose Syndrome
Sparse scalp hair, Absent facial hair, Synophrys, Truncal obesity, Absent axillary hair, Dystroph... OMIM:259050
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Klatskin Tumor
Jaundice, Weight loss, Lymphadenopathy ORPHA:99978
Erdheim-Chester Disease
Weight loss, Osteomyelitis, Skin rash, Hyperhidrosis ORPHA:35687
Rheumatoid Arthritis
Rheumatoid arthritis, Weight loss OMIM:180300
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Perianal abscess, Weight loss, Arthritis, Inflammation of the large... OMIM:301074
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Roberts-Sc Phocomelia Syndrome
Sparse hair, Patent ductus arteriosus, Accessory spleen OMIM:268300
Tropical Endomyocardial Fibrosis
Splenomegaly, Cachexia ORPHA:75565
Beta-Ketothiolase Deficiency
Pallor, Weight loss ORPHA:134
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Perry Syndrome
Weight loss OMIM:168605
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Gallbladder Neuroendocrine Tumor
Intermittent jaundice, Chronic noninfectious lymphadenopathy, Cholecystitis, Weight loss ORPHA:100086
Liposarcoma
Weight loss ORPHA:69078
Norrie Disease
Failure to thrive, Cachexia ORPHA:649
Cowden Syndrome
Failure to thrive, Palmoplantar keratoderma, Generalized hyperkeratosis, Mucosal telangiectasiae ORPHA:201
Al Amyloidosis
Bruising susceptibility, Weight loss ORPHA:85443
Oromandibular Dystonia
Weight loss ORPHA:93958
Familial Pancreatic Carcinoma
Jaundice, Weight loss, Lymphadenopathy, Hepatosplenomegaly ORPHA:1333
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Keratitis, Failure to thrive, Aspiration pneumonia, Weight loss ORPHA:1018
Familial Glucocorticoid Deficiency
Failure to thrive, Weight loss ORPHA:361
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Acute colitis, Weight loss ORPHA:67
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Iridocyclitis, Mediastinal lymphadenopathy, Splenomegaly, Bronchiect... OMIM:181000
Solitary Fibrous Tumor
Weight loss ORPHA:2126
Anemia, Congenital Dyserythropoietic, Type Iv
Splenomegaly, Weight loss, Hepatosplenomegaly OMIM:613673
Alström Syndrome
Dorsocervical fat pad, Glomerulonephritis, Frontal balding, Splenomegaly, Recurrent pneumonia, He... ORPHA:64
Ileal Neuroendocrine Tumor
Weight loss, Dermatological manifestations of systemic disorders, Lymphadenopathy ORPHA:100078
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Weight loss ORPHA:764
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Weight loss ORPHA:747
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss OMIM:607459
Pancreatoblastoma
Jaundice, Weight loss, Abnormal lymph node morphology ORPHA:677
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Grfoma
Neoplasm of the thymus, Intermittent jaundice, Weight loss, Palmoplantar hyperhidrosis, Subcutane... ORPHA:97261
Lynch Syndrome
Weight loss ORPHA:144
Tubulointerstitial Nephritis And Uveitis Syndrome
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, Renal tubular epithe... ORPHA:91500
Familial Colorectal Cancer Type X
Weight loss ORPHA:440437
Multiple Myeloma
Splenomegaly, Weight loss, Lymphadenopathy ORPHA:29073
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Thyrotoxic Periodic Paralysis
Weight loss, Obesity, Hyperhidrosis ORPHA:79102
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Thyroiditis, Lymphadenopathy, Weight loss, Tubulointerstitial nephritis, Keratoconjunct... ORPHA:79078
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Fanconi Anemia
Patent ductus arteriosus, Weight loss ORPHA:84
Tropical Pancreatitis
Jaundice, Chronic calcifying pancreatitis, Weight loss ORPHA:103918
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Aspiration pneumonia, Weight loss ORPHA:2020
Pancreatic Triacylglycerol Lipase Deficiency
Keratoconjunctivitis sicca, Colitis, Weight loss ORPHA:309031
Pulmonary Alveolar Microlithiasis
Cyanosis, Bronchiectasis, Weight loss ORPHA:60025
Ppoma
Intermittent jaundice, Subcutaneous lipoma, Weight loss ORPHA:97278
Somatostatinoma
Intermittent jaundice, Subcutaneous lipoma, Weight loss ORPHA:97283
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Parathyroid Carcinoma
Pancreatitis, Weight loss ORPHA:143
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Weight loss ORPHA:99885
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Multiple Endocrine Neoplasia Type 1
Thymoma, Weight loss ORPHA:652
Choreoacanthocytosis
Splenomegaly, Arthritis, Weight loss ORPHA:2388
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Goodpasture Syndrome
Pallor, Cyanosis, Glomerulonephritis, Weight loss OMIM:233450

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 Pkp3

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 Pkp3.

No publications found that use IMPC mice or data for Pkp3.

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
Pkp3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Pkp3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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