Gene Summary

keratin 76

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 50% (1 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote Not available
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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



9 Images

Legacy Phenotype Associated Images

View all 161 images

Human diseases caused by Krt76 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 Krt76 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hypotrichosis 13
Sparse and thin eyebrow, Sparse hair, Woolly hair OMIM:615896
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Hypotrichosis 9
Sparse scalp hair, Sparse body hair OMIM:614237
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis, Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Hypotrichosis 14
Sparse hair, Sparse body hair OMIM:618275
Ringed Hair Disease
Fine hair, Abnormal hair pattern ORPHA:169
Hypotrichosis 1
Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo... OMIM:605389
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis OMIM:146750
Hypotrichosis 2
Sparse scalp hair OMIM:146520
Hypotrichosis 3
Sparse scalp hair OMIM:613981
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Hypotrichosis 4
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair OMIM:146550
Hypotrichosis Simplex
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... ORPHA:55654
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperke... OMIM:148730
Atrichia With Papular Lesions
Sparse hair OMIM:209500
Hypotrichosis 7
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Woolly hair OMIM:604379
Hypotrichosis 10
Sparse eyelashes, Sparse eyebrow, Sparse body hair OMIM:614238
Hyperkeratosis-Hyperpigmentation Syndrome
Multiple cafe-au-lait spots, Irregular hyperpigmentation, Hyperkeratosis ORPHA:1336
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
Sparse hair OMIM:246500
Hypotrichosis 11
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... OMIM:615059
Ichthyosis-Hypotrichosis Syndrome
Sparse hair ORPHA:91132
Uncombable Hair Syndrome 2
Pili canaliculi, Uncombable hair OMIM:617251
Witkop Syndrome
Fine hair, Small nail, Ridged nail, Concave nail, Sparse hair, Nail pits OMIM:189500
Woolly Hair, Autosomal Recessive 3
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair OMIM:616760
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii
Acrokeratosis, Hyperkeratosis OMIM:101850
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Congenital ichthyosiform erythroderma, Hyperkeratosis OMIM:270220
Thickened skin, Hyperkeratosis ORPHA:1659
Ichthyosis, Congenital, Autosomal Recessive 13
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617574
Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome
Palmoplantar keratoderma, Ichthyosis ORPHA:281201
Palmoplantar Keratoderma, Punctate Type Ii
Spinous keratoses of palms and soles, Porokeratosis OMIM:175860
Porokeratosis 7, Multiple Types
Porokeratosis, Parakeratosis OMIM:614714
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Porokeratosis Of Mibelli
Pruritus, Porokeratosis, Hyperkeratosis ORPHA:735
Ectodermal Dysplasia 6, Hair/Nail Type
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail OMIM:614928
Vohwinkel Syndrome, Variant Form
Hypergranulosis, Orthokeratosis, Hyperkeratosis, Parakeratosis OMIM:604117
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Spotty h... ORPHA:79147
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Pruritus, Hyperpigmentation of the skin, Parakeratosis... ORPHA:158681
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation, Hyperkeratosis ORPHA:315
Acne Inversa, Familial, 3
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613737
Uncombable Hair Syndrome 3
Curly hair, Pili canaliculi, Uncombable hair OMIM:617252
Cole Disease
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:615522
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma
Linear arrays of macular hyperkeratoses in flexural areas, Parakeratosis, Congenital nonbullous i... OMIM:601952
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Vitiligo, Multiple lentigines, Hyperkeratosis, Progressive hyperpigme... OMIM:145250
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Acanthosis Nigricans
Acanthosis nigricans OMIM:100600
Ichthyosis Hystrix Gravior
Ichthyosis OMIM:146600
Porokeratosis 6, Multiple Types
Porokeratosis OMIM:612353
Ichthyosis Hystrix, Curth-Macklin Type
Ichthyosis OMIM:146590
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Porokeratosis 9, Multiple Types
Porokeratosis OMIM:616631
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Porokeratosis Plantaris Palmaris Et Disseminata
Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis ORPHA:737
Acrokeratoderma, Hereditary Papulotranslucent
Fine hair OMIM:101840
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Insulin-Resistance Syndrome Type A
Generalized hyperpigmentation, Hyperkeratosis ORPHA:2297
Psoriasis 2
Hyperkeratosis, Psoriasiform dermatitis, Parakeratosis OMIM:602723
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Posterior blepharitis, Hyperke... OMIM:300918
Mental Retardation, Fra12A Type
Hyperkeratosis OMIM:136630
Angioma Serpiginosum, X-Linked
Fine hair, Nail dystrophy, Sparse hair OMIM:300652
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hypopigmentation, Hypomelanotic macule, Pruritus, Spotty hyperpigmentation, Hypermelanotic... ORPHA:79399
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr... OMIM:604777
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis ORPHA:79503
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll... OMIM:613736
Porokeratosis 3, Multiple Types
Porokeratosis, Parakeratosis OMIM:175900
Hypotrichosis 5
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair OMIM:612841
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia totalis, Alopecia of scalp OMIM:610753
Graham Little-Piccardi-Lassueur Syndrome
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair ORPHA:505
Cerebellar Ataxia And Ectodermal Dysplasia
Alopecia, Sparse hair OMIM:212835
Ectodermal Dysplasia 9, Hair/Nail Type
Absent hair, Nail dystrophy, Atrichia, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair OMIM:614931
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Orthokeratosis OMIM:173200
Acrokeratosis Verruciformis
Acrokeratosis, Hyperkeratosis OMIM:101900
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Alopecia, Sparse hair OMIM:203600
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Pili torti, Reduced terminal:vellus ratio, Sparse hair OMIM:601553
Trichodysplasia-Xeroderma Syndrome
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... ORPHA:3361
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Odonto-Onycho Dysplasia-Alopecia Syndrome
Abnormal fingernail morphology, Alopecia, Hypoplastic toenails, Sparse and thin eyebrow, Sparse h... ORPHA:2722
Porokeratosis 1, Multiple Types
Porokeratosis, Parakeratosis OMIM:175800
Hair Defect With Photosensitivity And Mental Retardation
Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair OMIM:234030
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis OMIM:148500
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair OMIM:158000
Marie Unna Hereditary Hypotrichosis
Alopecia, Coarse hair, Sparse or absent eyelashes, Sparse scalp hair, Aplasia/Hypoplasia of the e... ORPHA:444
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Woolly Hair, Autosomal Dominant
Abnormal hair morphology, Dry hair, Coarse hair, Woolly hair, Slow-growing hair OMIM:194300
Hypertrichosis Lanuginosa Congenita
Double eyebrow, Congenital, generalized hypertrichosis OMIM:145700
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Palmoplantar Keratoderma And Woolly Hair
Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Woolly hair, Leukonychia, Sparse sc... OMIM:616099
Alopecia Universalis
Alopecia universalis, Patchy alopecia, Absent eyebrow, Absent eyelashes ORPHA:701
Alopecia-Intellectual Disability Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Intellectual Disability Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... OMIM:190360
Palmoplantar Keratoderma, Nagashima Type
Hypergranulosis, Orthokeratotic hyperkeratosis OMIM:615598
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears
Sparse hair, Woolly hair OMIM:278200
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Hypotrichosis 12
Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars... OMIM:615885
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Chronic oral candidiasis, Recurre... OMIM:613953
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... OMIM:602032
Keratoderma Hereditarium Mutilans With Ichthyosis
Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Congenital nonbullous ichthyosiform ery... ORPHA:79395
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Sparse eyelashes, Abnormal hair morphology, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sp... ORPHA:1808
Pityriasis Rubra Pilaris
Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritus, Thickened skin, Palmoplantar k... ORPHA:2897
Olmsted Syndrome 2
Cheilitis, Pruritus, Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Hyperkerat... OMIM:619208
Ectodermal Dysplasia 7, Hair/Nail Type
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... OMIM:614929
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Ichthyosis, Congenital, Autosomal Recessive 6
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr... OMIM:612281
Anonychia With Flexural Pigmentation
Follicular hyperkeratosis, Axillary and groin hyperpigmentation and hypopigmentation, Hypermelano... ORPHA:69125
Bazex Syndrome
Lip hyperpigmentation, Acanthosis nigricans, Pruritus, Palmoplantar keratoderma, Parakeratosis, H... ORPHA:166113
Osteopenia And Sparse Hair
Sparse hair OMIM:259690
Ichthyosis, Congenital, Autosomal Recessive 10
Hypergranulosis, Palmoplantar keratoderma, Erythroderma, Congenital ichthyosiform erythroderma OMIM:615024
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
White Sponge Nevus 2
Hyperparakeratosis OMIM:615785
Erythrokeratodermia Variabilis Et Progressiva 1
Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generalized hyperkeratosis OMIM:133200
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Allergic rhinitis, Pruritus, Parakeratosis, Hyperkeratosis ORPHA:90368
Alopecia Areata 1
Alopecia totalis, Alopecia universalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Aplasia/Hypoplasia of the eyebrow, Pili torti, Sparse or absent eyelashes, Abnormality of hair te... ORPHA:2891
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair OMIM:617294
Onychogryposis, Pedal, With Keratosis Plantaris And Coarse Hair
Coarse hair, Dry hair, Onychogryposis of toenails, Sparse hair OMIM:164680
Sabinas Brittle Hair Syndrome
Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair OMIM:211390
Pili Torti
Brittle hair, Alopecia, Abnormal eyebrow morphology, Abnormality of hair texture, Pili torti, Abn... ORPHA:2889
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Pruritic Urticarial Papules And Plaques Of Pregnancy
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Parak... ORPHA:64745
Generalized hypotrichosis OMIM:207780
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Hypertrichosis, Congenital Generalized
Congenital, generalized hypertrichosis, Hirsutism OMIM:307150
Parana Hard Skin Syndrome
Thickened skin, Generalized hyperpigmentation, Hyperkeratosis ORPHA:2812
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Ichthyosis With Confetti
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:609165
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia, Alopecia of scalp OMIM:260910
Erythrokeratodermia Variabilis Et Progressiva 3
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:617525
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis OMIM:617571
Ectodermal Dysplasia 5, Hair/Nail Type
Absent toenail, Sparse scalp hair, Dystrophic fingernails OMIM:614927
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Alopecia, Woolly scalp hair, Woolly hair OMIM:601217
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Sparse hair OMIM:272980
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... ORPHA:573
Pachyonychia Congenita 4
Palmoplantar keratoderma, Hyperkeratosis OMIM:615728
Olmsted Syndrome 1
Pruritus, Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis OMIM:614594
Tooth Agenesis, Selective, 8
Sparse hair, Sparse eyebrow OMIM:617073
Trichodental Dysplasia
Fine hair, Brittle hair, Sparse hair, Slow-growing hair OMIM:601453
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... ORPHA:189
Crandall Syndrome
Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair ORPHA:202
Bathing Suit Ichthyosis
Erythroderma, Thickened skin, Parakeratosis, Congenital nonbullous ichthyosiform erythroderma, Ic... ORPHA:100976
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, Parakeratosis OMIM:242300
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Pruritus, Hyperpigmentation of the skin, Hypopigmentation of the skin, Hyperkeratosis, Palmoplant... ORPHA:89838
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Pruritus, Palmoplantar keratoderma, Parakeratosis, Ichthyosis, Hyperkeratosis OMIM:615821
Hypotrichosis 6
Sparse eyelashes, Brittle hair, Pili torti, Sparse and thin eyebrow, Sparse hair OMIM:607903
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Pruritus, Hyperpigmentation of the skin, Hypopigmentation o... ORPHA:90158
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmar pruritus ORPHA:498359
Abnormality of skin pigmentation, Pruritus, Hyperkeratosis ORPHA:79358
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Ichthyosis, Congenital, Autosomal Recessive 7
Hypergranulosis, Palmoplantar keratoderma, Erythroderma, Ichthyosis OMIM:615022
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Congenital alopecia totalis, Alopecia universalis OMIM:104130
Erythrokeratodermia Variabilis Et Progressiva 4
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hyperkeratotic papule, Spotty hypopigmentation, Hypomelanotic macule, Hypermelanotic macule, Reti... ORPHA:79397
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:261900
Björnstad Syndrome
Brittle hair, Alopecia ORPHA:123
Ichthyosis, Congenital, Autosomal Recessive 9
Hypergranulosis, Congenital ichthyosiform erythroderma OMIM:615023
Vulvovaginal Gingival Syndrome
Pruritus, Parakeratosis ORPHA:83453
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Anterior cervical hypertrichosis, Lumbar hypertrichosis, Sacral hypertrichosis, Thoracic hypertri... OMIM:117850
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Pa... ORPHA:87503
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosif... ORPHA:312
Carvajal Syndrome
Woolly hair ORPHA:65282
Lichen Planus Pemphigoides
Hypopigmented streaks, Pruritus, Hyperkeratosis, Blepharitis, Conjunctivitis ORPHA:254478
Ichthyosis, Congenital, Autosomal Recessive 8
Hypergranulosis, Orthokeratosis, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma OMIM:613943
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato... ORPHA:284426
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Hyperkeratosis OMIM:618339
Acquired Ichthyosis
Pruritus, Palmoplantar keratoderma, Recurrent skin infections, Ichthyosis, Hyperkeratosis ORPHA:454
Psoriasis 14, Pustular
Cholangitis, Psoriasiform dermatitis, Pustule, Oligoarthritis, Parakeratosis OMIM:614204
Trichothiodystrophy 7, Nonphotosensitive
Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma OMIM:618546
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate
Sparse hair OMIM:129810
Choroidal Atrophy-Alopecia Syndrome
Fine hair, Abnormal toenail morphology, Ungual fibroma, Sparse or absent eyelashes, Abnormal fing... ORPHA:1433
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections ORPHA:345
Parc Syndrome
Alopecia, Absent eyebrow, Absent eyelashes OMIM:600331
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair ORPHA:1008
Ectodermal Dysplasia, Trichoodontoonychial Type
Abnormal eyelash morphology, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Spar... ORPHA:1818
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... ORPHA:499
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair ORPHA:2266
Ichthyosis Vulgaris
Eczematoid dermatitis, Ichthyosis OMIM:146700
Sparse eyelashes, Sparse lateral eyebrow, Sparse scalp hair, Sparse pubic hair, Generalized hypot... OMIM:257960
Palmoplantar Keratoderma, Epidermolytic
Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Localized epidermolyt... OMIM:144200
Chilblain Lupus
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Malar rash, Skin rash... ORPHA:90280
Focal Palmoplantar And Gingival Keratoderma
Subungual hyperkeratosis, Circumungual hyperkeratosis, Palmoplantar keratoderma, Gingival hyperke... ORPHA:2200
Dwarfism, Familial, With Muscle Spasms
Fine hair, Sparse scalp hair, Brittle scalp hair OMIM:600771
Bjornstad Syndrome
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... OMIM:262000
Darier Disease
Abnormality of skin pigmentation, Pruritus, Thickened skin, Palmoplantar keratoderma, Subungual h... ORPHA:218
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Fine hair, Abnormal hair morphology, Alopecia, Abnormal toenail morphology, Abnormal fingernail m... ORPHA:248
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Erythroderma, Pruritus, Hyperpigmentation of the skin, Follicular hyperkeratos... OMIM:608649
Palmoplantar Keratoderma, Punctate Type Ia
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Orthokeratosis OMIM:148600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair OMIM:610476
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Fine hair, Sparse eyelashes, Nail dysplasia, Slow-growing hair, Sparse and thin eyebrow, Sparse hair OMIM:129490
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis
Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Ichthyosis OMIM:607602
Bazex-Dupré-Christol Syndrome
Sparse and thin eyebrow, Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse or absent eyelashe... ORPHA:113
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Fine hair, Sparse hair ORPHA:1174
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Palmoplantar keratoderma, Punctate keratitis, Ichthyosis, Hyperkeratosis OMIM:602540
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse eyelashes, Small nail, Sparse and thin eyebrow, Coarse hair, Alopecia, Pili torti, Absent ... OMIM:613573
Epidermolytic Palmoplantar Keratoderma
Epidermal hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Di... ORPHA:2199
Dyskeratosis Congenita, Autosomal Recessive 6
Nail dystrophy, Alopecia, Sparse hair OMIM:616353
Schopf-Schulz-Passarge Syndrome
Small nail, Apocrine hidrocystoma, Onycholysis, Ridged nail, Thin nail, Narrow nail, Sparse hair,... OMIM:224750
Classic Mycosis Fungoides
Hypopigmented skin patches, Eczema, Pruritus, Irregular hyperpigmentation, Skin rash, Hyperkeratosis ORPHA:2584
Palmoplantar Keratoderma And Congenital Alopecia 1
Brittle hair, Alopecia, Sparse eyebrow, Nail dysplasia, Leukonychia, Sparse hair OMIM:104100
Hypotrichosis And Recurrent Skin Vesicles
Sparse eyelashes, Sparse eyebrow, Sparse scalp hair, Leukonychia, Sparse axillary hair, Sparse ha... OMIM:613102
Netherton Syndrome
Congenital nonbullous ichthyosiform erythroderma, Allergic rhinitis, Erythroderma, Parakeratosis OMIM:256500
Erythrokeratodermia Variabilis Et Progressiva 7
Woolly hair, Dystrophic toenail OMIM:619209
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Cholangitis, Orthokeratosis, Ichthyosis, Parakeratosis OMIM:607626
Palmoplantar Carcinoma, Multiple Self-Healing
Follicular hyperkeratosis, Palmoplantar keratoderma, Parakeratosis OMIM:615225
Neuropathy, Hereditary Sensory, Type If
Osteomyelitis, Hyperkeratosis OMIM:615632
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Hypopigmented skin patches, Eczema, Allergic rhinitis, Erythroderma... ORPHA:330064
Dermatitis, Atopic
Atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Recurrent skin infections, Ichthyosis, Co... OMIM:603165
Neonatal Lupus Erythematosus
Parakeratosis, Malar rash, Skin rash, Maculopapular exanthema, Hyperkeratosis ORPHA:398124
Chand Syndrome
Curly hair, Nail dysplasia OMIM:214350
Moynahan Syndrome
Alopecia, Sparse hair ORPHA:2574
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Widow's peak, Sparse hair, Thick eyebrow OMIM:606242
Fine hair, Sparse hair ORPHA:2118
Epidermolytic Hyperkeratosis
Congenital bullous ichthyosiform erythroderma, Erythroderma, Palmoplantar hyperkeratosis OMIM:113800
Ichthyosis, Congenital, Autosomal Recessive 11
Brittle hair, Curly hair, Pili torti, Sparse and thin eyebrow, Sparse hair OMIM:602400
Acral Peeling Skin Syndrome
Eczema, Hyperpigmentation of the skin, Ichthyosis ORPHA:263534
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Dowling-Degos Disease
Hyperkeratotic papule, Progressive reticulate hyperpigmentation, Pruritus, Acne inversa, Arthriti... ORPHA:79145
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Fine hair, Fragile nails ORPHA:500166
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis OMIM:607936
Hyperkeratotic papule, Keratoconjunctivitis sicca, Hypopigmented skin patches, Pruritus, Hyperpar... ORPHA:182
Erythrokeratodermia Variabilis Et Progressiva 2
Hypertrichosis OMIM:617524
Hypodontia-Dysplasia Of Nails Syndrome
Fine hair, Thin toenail, Fragile nails, Abnormality of the nail, Hypoplastic fingernail, Hypoplas... ORPHA:2228
Proliferating Trichilemmal Cyst
Sparse scalp hair ORPHA:492
Palmoplantar Keratoderma And Congenital Alopecia 2
Sclerodactyly, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:212360
Trichoodontoonychial Dysplasia With Bone Deficiency
Nail dysplasia, Nail dystrophy, Sparse hair, Supernumerary nipple OMIM:275450
Cardiofaciocutaneous Syndrome 2
Fine hair, Curly hair, Sparse hair, Absent eyebrow OMIM:615278
Ulerythema Ophryogenesis
Hyperkeratotic papule, Follicular hyperkeratosis, Acne, Contact dermatitis ORPHA:3406
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Ridged nail, Nail dystrophy, Alopecia, Nail pits OMIM:601705
Peeling Skin Syndrome 1
Brittle hair, Onycholysis, Abnormality of hair texture OMIM:270300
Focal Facial Dermal Dysplasia 3, Setleis Type
Absent lower eyelashes, Distichiasis, Low anterior hairline, Sparse hair OMIM:227260
Skin Fragility-Woolly Hair Syndrome
Sparse eyelashes, Nail dystrophy, Alopecia, Nail dysplasia, Woolly hair, Sparse and thin eyebrow OMIM:607655
Alopecia Antibody Deficiency
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Abnormal eyelash morphology ORPHA:1006
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Fine hair, Dystrophic fingernails, Dystrophic toenail, Sparse and thin eyebrow, Alopecia, Sparse ... ORPHA:1882
Rothmund-Thomson Syndrome, Type 1
Cafe-au-lait spot, Recurrent otitis media, Hyperkeratosis OMIM:618625
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Streaks of hyperkeratosis along each fin... OMIM:148700
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans ORPHA:409
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Erythroderma, Acantholysis, Palmoplantar keratoderma, Hypergranulosis, O... OMIM:615508
Disseminated Superficial Actinic Porokeratosis
Pruritus, Porokeratosis ORPHA:79152
Focal Facial Dermal Dysplasia Type I
Low anterior hairline, Sparse lateral eyebrow, Absent eyelashes, Distichiasis, Sparse hair ORPHA:79133
Pilodental Dysplasia With Refractive Errors
Sparse scalp hair, Brittle hair, Brittle scalp hair, Abnormality of the nail OMIM:262020
Clouston Syndrome
Fine hair, Sparse eyelashes, Small nail, Onycholysis, Absent pubic hair, Brittle hair, Nail dystr... OMIM:129500
Erythrokeratodermia Variabilis
Patchy palmoplantar hyperkeratosis, Irregular hyperpigmentation, Skin rash, Hyperkeratosis, Hyper... ORPHA:317
Naxos Disease
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture ORPHA:34217
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Hidrotic Ectodermal Dysplasia, Halal Type
Abnormal fingernail morphology, Absent eyebrow, Absent eyelashes, Nail dysplasia, Abnormal toenai... ORPHA:1809
Trichothiodystrophy 2, Photosensitive
Tiger tail banding, Brittle hair, Coarse hair OMIM:616390
Ichthyosis, Congenital, Autosomal Recessive 3
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Hyperkeratosis OMIM:606545
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis ORPHA:79148
Oliver-Mcfarlane Syndrome
Long eyebrows, Sparse hair, Long eyelashes, Alopecia OMIM:275400
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Onychogryposis of fingernail, Fingernail dysplasia, Alopecia, Ridged fingernail, Sparse hair ORPHA:2251
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Sparse axillary hair, Sparse pubic hair OMIM:146110
Hypotrichosis With Juvenile Macular Degeneration
Fine hair, Sparse scalp hair, Brittle hair, Pili torti ORPHA:1573
Atrophoderma Vermiculata
Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis ORPHA:79100
Porphyria Cutanea Tarda, Type I
Eczema, Hyperpigmentation of the skin OMIM:176090
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Acne inversa, Hyperkeratosis OMIM:617337
Pili Torti-Onychodysplasia Syndrome
Nail dystrophy, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Congenital onychodystro... ORPHA:2890
Recessive X-Linked Ichthyosis
Ichthyosis, Hyperkeratosis ORPHA:461
Mannose-Binding Lectin Deficiency
Recurrent skin infections OMIM:614372
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Slow-growing hair, Sparse eyelashes, Sparse body hair OMIM:618535
Pachyonychia Congenita 1
Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:167200
Absence Of Fingerprints-Congenital Milia Syndrome
Thickened skin, Skin rash ORPHA:1658
Lichen Planopilaris
Hypopigmented skin patches, Pruritus, Hepatitis, Hyperkeratosis ORPHA:525
Syndromic X-Linked Intellectual Disability 7
Sparse body hair ORPHA:85274
Trichohepatoenteric Syndrome 2
Brittle hair, Trichorrhexis nodosa, Uncombable hair, Woolly hair, Sparse hair, Pili canaliculi OMIM:614602
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Progressive hypotrichosis, Sparse eyelashes, Brittle hair, Abnormality of hair texture, Nail dysp... OMIM:225060
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Eczema, Ichthyosis, Hyperkeratosis OMIM:612379
Tricho-Retino-Dento-Digital Syndrome
Sparse hair, Uncombable hair ORPHA:1264
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Inflammatory abnormality of t... ORPHA:816
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Sparse eyelashes, Sparse hair, Sparse eyebrow, Hypoplastic toenails OMIM:616901
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive
Plantar hyperkeratosis OMIM:616487
Pseudopelade Of Brocq
Abnormal hair morphology, Alopecia, Abnormality of the nail, Sparse scalp hair, Aplasia/Hypoplasi... ORPHA:129
Oculocutaneous Albinism Type 1A
Ocular albinism, Freckling, Thickened skin, Hypopigmentation of the skin, Albinism, Iris hypopigm... ORPHA:79431
Intermediate Generalized Junctional Epidermolysis Bullosa
Anonychia, Nail dystrophy, Scarring alopecia of scalp, Sparse body hair ORPHA:79402
Immunodeficiency 15A
Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Recurrent sinusitis, Cut... OMIM:618204
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Palmoplantar keratoderma, Angular cheilitis, Hyperkeratosis OMIM:616295
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate ORPHA:90283
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Eczema, Ichthyosis ORPHA:3055
Immunodeficiency 55
Eczema, Recurrent skin infections, Ichthyosis OMIM:617827
Congenital Short Bowel Syndrome
Sparse hair ORPHA:2301
Acrokeratosis Verruciformis Of Hopf
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:79151
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis, Hypergranulosis ORPHA:38
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy
Anterior cervical hypertrichosis OMIM:239840
Pachyonychia Congenita 2
Dry hair, Subungual hyperkeratosis, Nail dystrophy, Sparse and thin eyebrow, Nail dysplasia, Spar... OMIM:167210
Pseudoprogeria Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Sparse and thin eyebrow, Sparse hair ORPHA:2985
Schöpf-Schulz-Passarge Syndrome
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Alopecia ORPHA:50944
Ectodermal Dysplasia-Syndactyly Syndrome 2
Congenital bullous ichthyosiform erythroderma, Follicular hyperkeratosis, Palmoplantar keratoderma OMIM:613576
Mednik Syndrome
Ichthyosis, Hyperkeratosis ORPHA:171851
Lymphatic Malformation 4
Hyperkeratosis OMIM:615907
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Profuse pigmented skin lesions, Erythroderma ORPHA:280785
Ectodermal Dysplasia/Skin Fragility Syndrome
Sparse hair, Dystrophic fingernails OMIM:604536
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormal fingernail morphology, Sparse hair, Sparse body hair ORPHA:1810
Amaurosis-Hypertrichosis Syndrome
Coarse hair, Thick eyebrow, Abnormal eyelash morphology, Synophrys ORPHA:1021
Bazex Syndrome
Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse hair, Trichoepithelioma OMIM:301845
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Sparse eyelashes, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sparse pubic hair, Onychogry... OMIM:601375
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis ORPHA:89843
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Brittle hair, Coarse hair, Sparse hair ORPHA:1883
Fingernail dysplasia, Sparse scalp hair, Trichodysplasia, Sparse body hair, Toenail dysplasia ORPHA:1660
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Abnormality of the nail, Sparse hair, Toenail dysplasia OMIM:607823
Heyn-Sproul-Jackson Syndrome
Sparse hair OMIM:618724
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Epidermodysplasia Verruciformis
Hypopigmented skin patches, Pustule, Seborrheic dermatitis, Recurrent skin infections, Multiple c... ORPHA:302
Irida Syndrome
Ichthyosis, Hyperkeratosis ORPHA:209981
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Eczema, Bronchiectasis, Pruritus, Recurrent otitis media, Chronic mucocutaneou... OMIM:618282
Darier-White Disease
Acantholysis, Pruritus, Subungual hyperkeratotic fragments, Acrokeratosis, Hypermelanotic macule OMIM:124200
Oligodontia-Colorectal Cancer Syndrome
Absent eyebrow, Sparse scalp hair, Sparse axillary hair, Sparse body hair, Short eyelashes OMIM:608615
Keratoderma Hereditarium Mutilans
Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:494
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis OMIM:616029
X-Linked Hypohidrotic Ectodermal Dysplasia
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse body hair ORPHA:181
Ectodermal Dysplasia, Trichoodontoonychial Type
Absent nipple, Sparse hair OMIM:129510
Harlequin Ichthyosis
Erythroderma, Congenital ichthyosiform erythroderma, Ichthyosis, Hyperkeratosis ORPHA:457
Coffin-Siris Syndrome 3
Hypertrichosis, Hirsutism, Long eyelashes, Thick eyebrow, Sparse scalp hair, Sparse hair OMIM:614608
Trichothiodystrophy 4, Nonphotosensitive
Sparse eyelashes, Small nail, Brittle hair, Trichorrhexis nodosa, Abnormality of hair texture, Na... OMIM:234050
Trichothiodystrophy 3, Photosensitive
Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Ichthyosis OMIM:616395
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections OMIM:617744
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis ORPHA:2698
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule ORPHA:346
Eem Syndrome
Sparse scalp hair, Absent eyebrow, Sparse body hair ORPHA:1897
Proteus Syndrome
Depigmentation/hyperpigmentation of skin, Hyperkeratosis OMIM:176920
Filippi Syndrome
Frontal hirsutism, Sparse hair, Hypertrichosis OMIM:272440
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis OMIM:613148
Blue irides, Eczema, Fair hair, Generalized hypopigmentation, Scleroderma OMIM:261600
Lessel-Kubisch Syndrome
Sparse pubic hair, Premature graying of hair OMIM:618681
Ichthyosis, Congenital, Autosomal Recessive 2
Palmoplantar keratoderma, Hypergranulosis, Congenital nonbullous ichthyosiform erythroderma, Hype... OMIM:242100
Onychotrichodysplasia And Neutropenia
Curly eyelashes, Trichorrhexis nodosa, Sparse pubic hair, Curly hair, Hypoplastic fingernail, Con... OMIM:258360
Familial Benign Chronic Pemphigus
Acantholysis, Hyperkeratosis ORPHA:2841
Lipoid Proteinosis
Acne, Thickened skin, Pustule, Hyperkeratosis ORPHA:530
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse eyelashes, Sparse and thin eyebrow, Scarring alopecia of scalp, Sparse scalp hair, Sparse ... ORPHA:59303
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Alopecia, Sparse body hair ORPHA:2850
Lamellar Ichthyosis
Erythroderma, Chronic otitis media, Pruritus, Ichthyosis, Hyperkeratosis ORPHA:313
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Sparse hair, Alopecia OMIM:617763
Rosselli-Gulienetti Syndrome
Progressive hypotrichosis, Sparse and thin eyebrow, Sparse eyelashes, Nail dysplasia OMIM:225000
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Palmoplantar keratoderma, Keratitis, Follicular hyperkeratosis, Blepharitis, Conjun... OMIM:308800
Tooth Agenesis, Selective, 4
Sparse hair, Sparse eyebrow, Short eyelashes OMIM:150400
Congenital Non-Bullous Ichthyosiform Erythroderma
Erythroderma, Pruritus, Palmoplantar keratoderma, Keratitis, Ichthyosis ORPHA:79394
Estrogen Resistance
Acanthosis nigricans, Acne OMIM:615363
Odontoonychodermal Dysplasia
Fine hair, Anonychia, Dry hair, Dystrophic fingernails, Dystrophic toenail, Sparse scalp hair, Na... OMIM:257980
Immunodeficiency 66
Recurrent skin infections, Pustule OMIM:618847
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Eczema, Otitis media, Pneumonia OMIM:608971
Pachyonychia Congenita 3
Chapped lip, Palmoplantar keratoderma, Palmar hyperkeratosis, Hyperkeratosis, Plantar hyperkeratosis OMIM:615726
Hydrocephalus-Obesity-Hypogonadism Syndrome
Low posterior hairline, Absent facial hair, Sparse facial hair ORPHA:2183
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia
Hirsutism, Low anterior hairline, Long eyelashes, Thick eyebrow, Sparse hair OMIM:616819
Xq27.3Q28 Duplication Syndrome
Sparse body hair ORPHA:261483
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia OMIM:241090
Idiopathic Trachyonychia
Circumungual hyperkeratosis, Atopic dermatitis, Ichthyosis, Vitiligo ORPHA:79153
Bullous Impetigo
Recurrent bacterial skin infections, Pustule, Septic arthritis ORPHA:36237
Lymphatic Malformation 3
Recurrent skin infections OMIM:613480
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis OMIM:147050
Flynn-Aird Syndrome
Hyperkeratosis OMIM:136300
Fine hair, Sparse eyelashes, Hypoplastic nipples, Distichiasis, Absent pubic hair, Sparse hair, A... OMIM:211370
Ermine Phenotype
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow OMIM:227010
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent nipple, Sparse hair, Absent hair OMIM:614940
Localized Junctional Epidermolysis Bullosa
Atrophic, patchy alopecia, Dystrophic fingernails, Dystrophic toenail, Nail dystrophy, Scarring a... ORPHA:251393
Cerebellofaciodental Syndrome
Fine hair, Sparse and thin eyebrow, Sparse hair OMIM:616202
Blepharocheilodontic Syndrome 1
High anterior hairline, Small nail, Sparse hair, Distichiasis OMIM:119580
Cerebrooculofacioskeletal Syndrome 2
Sparse hair OMIM:610756
Hereditary Mucoepithelial Dysplasia
Fine hair, Alopecia, Sparse hair ORPHA:1839
Focal Facial Dermal Dysplasia Type Iii
Highly arched eyebrow, Sparse lateral eyebrow, Abnormal hair pattern, Sparse lower eyelashes, Dis... ORPHA:1807
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Congenital ichthyosiform erythroderma, Parakeratosis, Hyperkeratosis OMIM:308050
Ramon Syndrome
Abnormality of retinal pigmentation, Hyperkeratosis ORPHA:3019
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Recurrent otitis media, Cutaneous abscess, Recurrent skin infections OMIM:618944
Pruritus, Arthritis, Skin rash, Recurrent cutaneous abscess formation ORPHA:231
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia OMIM:617638
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis, Hyperparakeratosis ORPHA:276280
Van Den Bosch Syndrome
Acrokeratosis, Recurrent skin infections ORPHA:3417
Gand Syndrome
Sparse hair OMIM:615074
Alopecia-Intellectual Disability Syndrome 4
Erythroderma, Ichthyosis OMIM:618840
Erosive Pustular Dermatosis Of The Scalp
Pustule ORPHA:222
Progeroid Syndrome, Petty Type
Long eyelashes in irregular rows, Abnormal hair morphology, Brittle hair, Thick eyebrow, Generali... ORPHA:2963
Odontotrichoungual-Digital-Palmar Syndrome
Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Recurrent skin infections, Co... OMIM:300635
Copper Deficiency, Familial Benign
Early balding, Curly hair OMIM:121270
Keratolytic Winter Erythema
Pustule ORPHA:50943
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash OMIM:619175
Acquired Hypertrichosis Lanuginosa
Fine hair, Hypopigmentation of hair, Generalized hirsutism, Abnormal eyebrow morphology ORPHA:2221
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Generalized reticulate brown pigmentation, Bronchiectasis, Reticular hyperpigmentation, Recurrent... OMIM:301220
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Immunodeficiency 50
Eczema OMIM:300988
Rodrigues Blindness
Fine hair, Sparse hair OMIM:268320
Growth Retardation, Small And Puffy Hands And Feet, And Eczema
Eczema OMIM:233810
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities
Sparse hair OMIM:273390
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Coarse hair OMIM:248010
Congenital Disorder Of Glycosylation, Type If
Erythroderma, Hyperkeratosis OMIM:609180
Leopard Syndrome 3
Epidermal hyperkeratosis, Multiple lentigines, Few cafe-au-lait spots, Hyperkeratosis OMIM:613707
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Fine hair, Sparse scalp hair ORPHA:2324
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Seborrheic dermatitis, Thickened skin, Acne OMIM:614441
Eczema, Erysipelas ORPHA:228240
Noonan Syndrome 8
Eczema, Hyperpigmentation of the skin, Hyperkeratosis OMIM:615355
Trichothiodystrophy 5, Nonphotosensitive
Slow-growing hair, Brittle hair, Sparse hair, Tiger tail banding OMIM:300953
Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Thickened skin, Arthritis, Uveitis, Skin rash, Generalized hyperkeratosis ORPHA:92
Netherton Syndrome
Eczema, Acanthosis nigricans, Erythroderma, Congenital nonbullous ichthyosiform erythroderma, Irr... ORPHA:634
Ifap Syndrome 2
Nail dystrophy, Sparse hair, Atrichia OMIM:619016
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Pili canaliculi, Uncombable hair OMIM:191482
Immunodeficiency 17
Eczema, Recurrent otitis media OMIM:615607
Growth Hormone Insensitivity Syndrome
Fine hair, Abnormality of the nail ORPHA:181393
Androgen Insensitivity Syndrome
Sparse axillary hair, Absent facial hair, Sparse pubic hair OMIM:300068
Zinc Deficiency, Transient Neonatal
Alopecia OMIM:608118
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Woolly hair OMIM:605676
Trichothiodystrophy 6, Nonphotosensitive
Slow-growing hair, Brittle hair, Tiger tail banding OMIM:616943
Anauxetic Dysplasia 2
Nail dysplasia, Small nail, Sparse hair OMIM:617396
Eczema, Osteoarthritis, Arthritis, Mottled pigmentation ORPHA:1525
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Alopecia, Absent eyebrow, Absent eyelashes, Sparse scalp hair, Sparse body hair ORPHA:69735
Milroy Disease
Erysipelas, Hyperkeratosis ORPHA:79452
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Skin rash OMIM:124950
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Pruritus OMIM:254400
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Follicular hyperkeratosis ORPHA:300179
Autoimmune Disease, Susceptibility To, 1
Hashimoto thyroiditis, Vitiligo OMIM:607836
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Brittle hair, Alopecia ORPHA:50812
Lelis Syndrome
Absent lower eyelashes, Yellow nails, Nail dystrophy, Sparse lateral eyebrow, Abnormal toenail mo... ORPHA:140936
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Eczema, Superficial dermal perivascular inflammatory infiltrate, Seborrheic dermatitis, Pruritus,... ORPHA:83617
Pemphigus Erythematosus
Hypopigmented skin patches, Malar rash, Acantholysis ORPHA:79480
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Follicular hyperkeratosis OMIM:617066
Papillon-Lefèvre Syndrome
Hypopigmented skin patches, Pustule, Chronic furunculosis, Recurrent cutaneous abscess formation,... ORPHA:678
Syndromic Recessive X-Linked Ichthyosis
Ichthyosis, Hyperkeratosis ORPHA:281090
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis ORPHA:79099
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Sparse eyelashes, Hypoplastic nipples, Sparse lateral eyebrow, Sparse scalp hair, Absent nipple, ... OMIM:614941
Alopecia OMIM:613229
Subcorneal Pustular Dermatosis
Pruritus, Hyperpigmentation of the skin, Rheumatoid arthritis, Pustule ORPHA:48377
Iga Pemphigus
Pustule, Acantholysis, Pruritus, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutan... ORPHA:555905
Weaver Syndrome
Fine hair, Thin nail, Deep-set nails, Hypoplastic toenails, Abnormal fingernail morphology ORPHA:3447
Frontonasal Dysplasia 2
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Alopecia OMIM:613451
Cronkhite-Canada Syndrome
Dystrophic fingernails, Patchy alopecia, Dystrophic toenail, Alopecia, Hypoplastic toenails, Abno... ORPHA:2930
Nicolaides-Baraitser Syndrome
Highly arched eyebrow, Curly eyelashes, Alopecia, Abnormal hair pattern, Long eyelashes, Sparse hair ORPHA:3051
Mental Retardation, Autosomal Recessive 5
Sparse hair, Thick eyebrow, Synophrys OMIM:611091
Craniofrontonasal Dysplasia
Abnormality of hair texture, Woolly hair, Ridged fingernail, Low posterior hairline, Widow's peak ORPHA:1520
Pemphigus Foliaceus
Psoriasiform dermatitis, Erythroderma, Acantholysis, Pustule, Pruritus, Crusting erythematous der... ORPHA:79481
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Seborrheic dermatitis, Thickened skin, Acne OMIM:167100
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin ORPHA:90159
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Keratoconjunctivitis sicca, Eczema, Generalized hypopigmentation of hair, Inflammatory... ORPHA:238468
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Pustule, Stomatitis, Osteomyelitis, Skin rash, Hyperkeratosis OMIM:612852
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Small nail, Sparse hair, Hypoplastic nipples OMIM:273400
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Folliculitis, Enterocolitis OMIM:612567
Shukla-Vernon Syndrome
Sparse hair OMIM:301029
Menkes Disease
Sparse hair OMIM:309400
Acrofacial Dysostosis, Palagonia Type
Sparse eyelashes, Thin eyebrow, Low anterior hairline, Sparse lateral eyebrow, Pili torti, Sparse... ORPHA:1787
Reynolds Syndrome
Keratoconjunctivitis sicca, Infectious encephalitis, Pruritus, Arthritis, Sclerodactyly, Irregula... ORPHA:779
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Aplasia/Hypoplasia of the eyebrow, Sparse hair ORPHA:261304
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent aphthous stomatitis, Colitis, Recurrent sinusitis, Perioral eczema OMIM:613960
Trichothiodystrophy 1, Photosensitive
Fine hair, Tiger tail banding, Small nail, Brittle hair, Nail dystrophy, Trichorrhexis nodosa, Ab... OMIM:601675
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease ORPHA:69126
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome