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Gene: Ebp MGI:107822

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

EBP cholestenol delta-isomerase

Synonyms:

mSI, Pabp, phenylalkylamine Ca2+ antagonist (emopamil) binding protein

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 Ebp mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Ebp (4 diseases)
Human diseases predicted to be associated with Ebp (606 diseases)

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

Disease	Matching phenotypes	Source
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,...	ORPHA:35173
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair, Failure to thrive	OMIM:302960
Mend Syndrome	Failure to thrive, Ichthyosis	ORPHA:401973
Mend Syndrome	Failure to thrive, Ichthyosis	OMIM:300960

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

Disease	Matching phenotypes	Source
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re...	OMIM:148730
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis	OMIM:101900
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma	OMIM:244850
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Porokeratosis Of Mibelli	Hyperkeratosis, Porokeratosis	ORPHA:735
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis	ORPHA:737
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar...	ORPHA:2722
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Proliferating Trichilemmal Cyst	Sparse scalp hair, Skin ulcer	ORPHA:492
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617526
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Ichthyosis	ORPHA:79503
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ...	OMIM:601952
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia	ORPHA:346
Insulin-Resistance Syndrome Type A	Hyperkeratosis	ORPHA:2297
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratode...	ORPHA:312
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Facial erythema, Nail dystrophy, Nail dysplasia, Dry skin	OMIM:212360
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Ichthyosis, Congenital, Autosomal Recessive 14	Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:617571
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin	ORPHA:2812
Anonychia With Flexural Pigmentation	Hyperkeratosis, Follicular hyperkeratosis	ORPHA:69125
L-Ferritin Deficiency	Alopecia	OMIM:615604
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis	OMIM:613943
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat...	ORPHA:2200
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis	OMIM:618546
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyperkeratosi...	ORPHA:79395
Palmoplantar Keratoderma, Epidermolytic, 1	Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm...	OMIM:144200
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis	ORPHA:1008
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Dry skin, Nail dystrophy, Trichodysplas...	ORPHA:2890
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype...	ORPHA:2199
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta...	OMIM:300918
Erythrokeratodermia Variabilis	Alopecia, Abnormal hair morphology, Erythema, Weight loss, Abnormality of the nail, Dry skin, Gen...	ORPHA:317
Thumb Deformity And Alopecia	Alopecia	OMIM:188150
Chilblain Lupus 1	Abnormality of the nail, Skin ulcer	OMIM:610448
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Hyperkeratosis, Failure to thrive, Palmoplantar hyperkeratosis	ORPHA:89838
Oliver-Mcfarlane Syndrome	Alopecia, Small for gestational age, Long eyebrows, Long eyelashes, Sparse hair	OMIM:275400
Moynahan Syndrome	Sparse hair, Alopecia, Cachexia	ORPHA:2574
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Palmoplantar er...	OMIM:104100
Non-Epidermolytic Palmoplantar Keratoderma	Erythema, Skin ulcer	ORPHA:2337
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis	OMIM:131850
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Kerion Celsi	Alopecia	ORPHA:499
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Decreased body weight, Sparse hair, F...	ORPHA:2985
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Abnormality of the nail	OMIM:302000
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum	OMIM:619986
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis	OMIM:133200
Peeling Skin Syndrome 4	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:607936
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Erythrokeratodermia Variabilis Et Progressiva 3	Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis	OMIM:617525
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Cortisone Reductase Deficiency 1	Alopecia, Obesity, Hirsutism	OMIM:604931
Cole Disease	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:615522
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Classic Mycosis Fungoides	Alopecia, Erythema, Skin ulcer, Dry skin, Abnormality of the nail	ORPHA:2584
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Sparse hair, Alopecia, Long eyelashes, Small for gestational age	ORPHA:3363
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod...	OMIM:148700
Aquagenic Palmoplantar Keratoderma	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma	ORPHA:498359
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis	ORPHA:79399
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Ichthyosis, Annular Epidermolytic, 2	Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:620148
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu...	OMIM:612281
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Acquired Ichthyosis	Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	ORPHA:454
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Fingernail dysplasia, Sparse hair, Onychogryposis of fingernail, Ridged fingernail	ORPHA:2251
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys...	ORPHA:2325
Ichthyosis, Hystrix-Like, With Deafness	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:602540
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Generalized hirsutism, Skin ulcer	ORPHA:2218
Ichthyosis, Annular Epidermolytic, 1	Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital bullous ichthyosiform ery...	OMIM:607602
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Scaling ski...	ORPHA:2269
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Alopecia totalis, Lack of skin elasticity	ORPHA:1366
Fibrodysplasia Ossificans Progressiva	Alopecia, Failure to thrive	ORPHA:337
Juvenile Hyaline Fibromatosis	Abnormal hair morphology, Skin ulcer	ORPHA:2028
Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:461
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail	ORPHA:1882
Lichen Planopilaris	Alopecia, Onycholysis, Abnormal fingernail morphology, Skin ulcer	ORPHA:525
Olmsted Syndrome 2	Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar...	OMIM:619208
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin	OMIM:247100
Porphyria Cutanea Tarda	Facial hypertrichosis, Alopecia, Onycholysis	OMIM:176100
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Nail dys...	OMIM:612843
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma	OMIM:146590
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Hypergranulosis	OMIM:615023
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
Acrokeratoelastoidosis Of Costa	Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis	ORPHA:38
Ulerythema Ophryogenesis	Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:3406
Acrogeria	Excessive wrinkled skin, Skin ulcer, Fine hair	ORPHA:2500
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma	OMIM:613576
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Sparse eyebrow, Palmoplantar scaling skin, Nail dystrophy, Palmoplant...	OMIM:605676
Reticular Dysgenesis	Failure to thrive, Skin ulcer, Weight loss	ORPHA:33355
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis	OMIM:136630
Buerger Disease	Skin ulcer	ORPHA:36258
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis	ORPHA:79151
Psoriasis 2	Hyperkeratosis, Parakeratosis	OMIM:602723
Flynn-Aird Syndrome	Alopecia, Skin ulcer, Cachexia	ORPHA:2047
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Erythema, Skin ulcer, Weight loss...	ORPHA:37
Centrifugal Lipodystrophy	Alopecia, Erythema, Scaling skin	ORPHA:90156
Rhizomelic Chondrodysplasia Punctata	Alopecia, Dry skin, Sparse body hair	ORPHA:177
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Pyoderma gangrenosum	OMIM:616576
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Nail dystrophy, Scaling skin, Dry skin	OMIM:618373
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Skin ulcer, ...	ORPHA:978
Nicolaides-Baraitser Syndrome	Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, Excessive wrinkled skin,...	ORPHA:3051
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Ichthyosis, Congenital, Autosomal Recessive 3	Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth...	OMIM:606545
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Acral ulceration, Skin ulcer	ORPHA:139578
Bathing Suit Ichthyosis	Alopecia, Palmoplantar scaling skin, Nail dystrophy, Scaling skin, Sparse hair	ORPHA:100976
Flynn-Aird Syndrome	Alopecia, Alopecia of scalp	OMIM:136300
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
Keratoderma Hereditarium Mutilans	Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Ichthyosis	ORPHA:494
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Dystrophic toenail, Pat...	ORPHA:2930
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Palmop...	OMIM:614594
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt...	OMIM:604777
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Nail dystrophy, Nail dysplasia	ORPHA:79397
Bazex Syndrome	Acanthosis nigricans, Hyperkeratosis, Parakeratosis, Palmoplantar keratoderma	ORPHA:166113
Ramon Syndrome	Hyperkeratosis, Failure to thrive	ORPHA:3019
Atrophoderma Vermiculata	Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:79100
Aplasia Cutis Congenita	Skin ulcer	ORPHA:1114
Hyperkeratosis Lenticularis Perstans	Skin ulcer	ORPHA:409
Dracunculiasis	Skin ulcer	ORPHA:231
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, Congenital non...	OMIM:242300
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Irida Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:209981
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis	OMIM:618531
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Hyperkeratosis, Parakeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:615821
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Sparse hair	ORPHA:659
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Failure to thrive, Alopecia, Brittle hair	ORPHA:50812
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Menkes Disease	Sparse hair, Alopecia, Brittle hair, Cutis laxa	OMIM:309400
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Skin vesicle, Alopecia, Hypoplastic fingernail	ORPHA:257
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Rothmund-Thomson Syndrome, Type 1	Hyperkeratosis	OMIM:618625
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Follicular hyperkeratosis	OMIM:613736
Polyarteritis Nodosa	Erythema, Skin ulcer, Weight loss	ORPHA:767
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Sparse eyebrow, Alopecia, Sparse eyelashes, Nail dysplasia	OMIM:615704
X-Linked Agammaglobulinemia	Alopecia, Failure to thrive, Skin ulcer, Weight loss	ORPHA:47
Brooke-Spiegler Syndrome	Skin appendage neoplasm, Trichoepithelioma, Cylindroma, Skin ulcer	ORPHA:79493
Congenital Ichthyosiform Erythroderma	Alopecia, Failure to thrive, Abnormality of the nail	ORPHA:79394
Sjögren-Larsson Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:816
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Sparse eyelashes, Sparse eyebrow, Dry skin, Failure to thrive	OMIM:610768
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Skin ulcer, Purpura	ORPHA:743
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis	OMIM:610227
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Rhizomelic Chondrodysplasia Punctata, Type 1	Severe failure to thrive, Alopecia	OMIM:215100
Familial Benign Chronic Pemphigus	Hyperkeratosis, Acantholysis	ORPHA:2841
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Alopecia, Failure to thrive, Nail dystrophy	OMIM:616353
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Prolidase Deficiency	Skin ulcer, Low posterior hairline, Facial hirsutism, Failure to thrive, Petechiae	OMIM:170100
Peeling Skin Syndrome 6	Orthokeratosis, Parakeratosis	OMIM:618084
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia totalis, Absent fingernail, Neonatal death, Anonychia, Alopecia universalis	OMIM:609638
Proteus Syndrome	Hyperkeratosis	OMIM:176920
Isolated Agammaglobulinemia	Failure to thrive, Skin ulcer	ORPHA:229717
Omenn Syndrome	Dry skin, Alopecia, Failure to thrive, Aplasia/Hypoplasia of the eyebrow	ORPHA:39041
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Cachexia, Thin eyebrow	ORPHA:3242
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Alopecia	OMIM:203550
Leishmaniasis	Pallor, Skin ulcer, Weight loss	ORPHA:507
Ichthyosis, Congenital, Autosomal Recessive 2	Hypergranulosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar keratoderma,...	OMIM:242100
Lymphatic Malformation 4	Hyperkeratosis	OMIM:615907
Prolidase Deficiency	Abnormal fingernail morphology, Erythema, Low anterior hairline, Skin ulcer, White forelock, Dry ...	ORPHA:742
Necrobiosis Lipoidica	Erythema, Skin ulcer	ORPHA:542592
Free Sialic Acid Storage Disease	Failure to thrive in infancy, Skin ulcer	ORPHA:834
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Sézary Syndrome	Alopecia, Dry skin, Nail dystrophy	ORPHA:3162
Chilblain Lupus	Skin ulcer	ORPHA:90280
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Failure to thrive	OMIM:615279
Dermatoosteolysis, Kirghizian Type	Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dystrophic toenail	ORPHA:1657
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Skin ulcer, Weight loss	ORPHA:86884
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Sparse hair, Dry skin	OMIM:607626
Dystrophic Epidermolysis Bullosa Pruriginosa	Hyperkeratosis	ORPHA:89843
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair	ORPHA:69735
Incontinentia Pigmenti	Ridged nail, Alopecia, Supernumerary nipple, Erythema, Nail pits, Fine hair, Coarse hair, Breast ...	OMIM:308300
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, A...	OMIM:607823
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Congenital Disorder Of Glycosylation, Type Iq	Hyperkeratosis, Failure to thrive, Ichthyosis	OMIM:612379
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Dry skin, Fine hair, P...	OMIM:129400
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Follicular hyperkeratosis	ORPHA:300179
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse hair, Failure to thrive	ORPHA:2316
Epidermolysis Bullosa, Junctional 1A, Intermediate	Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Limited Cutaneous Systemic Sclerosis	Skin ulcer	ORPHA:220402
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Follicular hyperkeratosis	OMIM:615147
Alpha-Heavy Chain Disease	Alopecia	ORPHA:100025
Hypomelanosis Of Ito	Alopecia	OMIM:300337
Harlequin Ichthyosis	Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis	ORPHA:457
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Dermal translucency	OMIM:137940
Ollier Disease	Skin ulcer	ORPHA:296
Ectodermal Dysplasia-Blindness Syndrome	Sparse hair, Abnormal fingernail morphology, Skin ulcer, Fine hair	ORPHA:1806
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:281090
Schopf-Schulz-Passarge Syndrome	Hyperkeratosis, Palmoplantar keratoderma	OMIM:224750
Bare Lymphocyte Syndrome, Type I	Skin ulcer	OMIM:604571
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Fine hair	ORPHA:1839
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis	OMIM:614457
Pachyonychia Congenita	Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Failure t...	ORPHA:2309
Macs Syndrome	Alopecia, Redundant skin, Sparse eyebrow, Cutis laxa, Decreased body weight, Sparse hair	OMIM:613075
Hereditary Bullous Dystrophy, Macular Type	Nail dystrophy, Alopecia, Congenital abnormal hair pattern, Atrichia	ORPHA:1867
Short Syndrome	Sparse hair, Excessive wrinkled skin, Alopecia, Weight loss	ORPHA:3163
Takayasu Arteritis	Skin ulcer, Weight loss	ORPHA:3287
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Dry skin	OMIM:618282
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypergranulosis, Acantholysis, Palmoplantar keratoderma, Ichthyosis, Orthokeratosis, Failure to t...	OMIM:615508
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Acanthosis nigricans, Hyperkeratosis, Parakeratosis, Ichthyosis	OMIM:618527
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Failure to thrive, Psoriasiform lesion	ORPHA:169154
Systemic Lupus Erythematosus 17	Alopecia	OMIM:301080
Bresek Syndrome	Neonatal death, Alopecia	ORPHA:85284
Noonan Syndrome 8	Hyperkeratosis, Failure to thrive, Large for gestational age	OMIM:615355
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Sparse hair, Alopecia, Failure to thrive, Fragile nails	OMIM:242150
Hereditary Sensory And Autonomic Neuropathy Type 1	Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Combined Immunodeficiency Due To Dock8 Deficiency	Skin ulcer	ORPHA:217390
Werner Syndrome	Sparse scalp hair, Abnormal hair whorl, Lack of skin elasticity, Skin ulcer, Premature graying of...	ORPHA:902
Beta-Thalassemia	Pallor, Skin ulcer	ORPHA:848
Hypotrichosis 6	Follicular hyperkeratosis	OMIM:607903
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Follicular hyperkeratosis, Acantholysis	OMIM:616295
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Brittle hair, Nail dystrophy	ORPHA:75389
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Synophrys, Dystrophic toenail, Nail dystrophy, Sparse hair, Dyst...	ORPHA:3253
Infantile Myofibromatosis	Abnormal hair morphology, Skin ulcer	ORPHA:2591
Lichen Planus Pemphigoides	Hyperkeratosis	ORPHA:254478
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Increased body weight, Hirsutism	OMIM:615830
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Palmoplantar keratoderma	OMIM:616029
Satoyoshi Syndrome	Alopecia, Alopecia universalis	OMIM:600705
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia	ORPHA:88630
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis	ORPHA:1573
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer, Nail dystrophy, Recurrent loss of toenails and fingernails	OMIM:245660
Hemifacial Atrophy, Progressive	Patchy alopecia, Poliosis	OMIM:141300
Oculocerebrocutaneous Syndrome	Alopecia	OMIM:164180
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Fine hair, Premature graying of hair, Nail dysplasia, Dry skin	OMIM:613990
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Overweight, Follicular hyperkeratosis	ORPHA:486815
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Acral ulceration	OMIM:613115
Holocarboxylase Synthetase Deficiency	Alopecia, Weight loss	ORPHA:79242
Autosomal Dominant Hyper-Ige Syndrome	Abnormal hair morphology, Paronychia, Skin ulcer, Skin vesicle, Dystrophic fingernails	ORPHA:2314
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Truncal obesity, Alopecia, Supernumerary nipple	ORPHA:3224
Pyoderma Gangrenosum	Skin vesicle, Skin ulcer	ORPHA:48104
Alopecia-Intellectual Disability Syndrome 4	Alopecia	OMIM:618840
Chronic Mucocutaneous Candidiasis	Abnormal fingernail morphology, Erythema, Broad nail, Skin ulcer, Abnormal toenail morphology, Ab...	ORPHA:1334
Leopard Syndrome 3	Hyperkeratosis, Epidermal hyperkeratosis	OMIM:613707
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Small nail	OMIM:614219
Ichthyosis Prematurity Syndrome	Generalized ichthyosis, Follicular hyperkeratosis	OMIM:608649
Hypotrichosis Simplex Of The Scalp	Hyperkeratosis, Parakeratosis	ORPHA:90368
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Alopecia, Nail dystrophy, Nail dysplasia	OMIM:175500
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Skin ulcer	OMIM:613640
Ichthyosis, Congenital, Autosomal Recessive 11	Hyperkeratosis, Congenital ichthyosiform erythroderma	OMIM:602400
Papa Syndrome	Skin ulcer	ORPHA:69126
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:615225
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pyoderma gangrenosum	OMIM:604416
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis	ORPHA:79279
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Juvenile Dermatomyositis	Alopecia, Erythema, Skin ulcer, Weight loss, Dry skin	ORPHA:93672
Linear Verrucous Nevus Syndrome	Hyperkeratosis	ORPHA:2611
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hyperkeratosis	ORPHA:1883
Congenital Disorder Of Glycosylation, Type If	Hyperkeratosis, Failure to thrive	OMIM:609180
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer	ORPHA:424019
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow	OMIM:261990
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Patchy alopecia, Failure to thrive in infancy, Scaling skin, Alopecia universalis	OMIM:606367
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia	OMIM:615559
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
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia	OMIM:612079
Lipoid Proteinosis	Hyperkeratosis, Thickened skin	ORPHA:530
Donohue Syndrome	Acanthosis nigricans, Hyperkeratosis, Severe failure to thrive	OMIM:246200
Kury-Isidor Syndrome	Alopecia, Hypertrichosis	OMIM:619762
Cryoglobulinemic Vasculitis	Petechiae, Skin ulcer, Purpura	ORPHA:91138
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Dry skin, Nail dystrophy, Failure ...	OMIM:614008
Lamellar Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:313
Calciphylaxis	Skin ulcer	ORPHA:280062
Monosomy 18P	Alopecia, Low posterior hairline	ORPHA:1598
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Follicular hyperkeratosis	OMIM:617066
Vulvovaginal Gingival Syndrome	Parakeratosis	ORPHA:83453
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Palmoplantar hyperkeratosis	ORPHA:158681
Incontinentia Pigmenti	Alopecia, Abnormal fingernail morphology, Supernumerary nipple, Abnormal hair morphology, Erythem...	ORPHA:464
Pachyonychia Congenita 3	Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar hyperkeratosis	OMIM:615726
Familial Keratoacanthoma	Skin ulcer	ORPHA:493
Adams-Oliver Syndrome	Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Failure to thrive, Hypopl...	ORPHA:974
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Lack of skin elasticity, Breast aplasia	ORPHA:90153
Familial Multiple Nevi Flammei	Skin ulcer	ORPHA:624
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Striae distensae, Increased body weight, Abdominal obesity, Hirsutism	ORPHA:189427
Giant Cell Arteritis	Alopecia, Skin ulcer, Weight loss	ORPHA:397
Netherton Syndrome	Parakeratosis, Failure to thrive, Congenital nonbullous ichthyosiform erythroderma	OMIM:256500
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Increased body weight	ORPHA:64745
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormal eyelash morpholog...	ORPHA:1775
Congenital Disorder Of Glycosylation, Type Iil	Hyperkeratosis, Failure to thrive	OMIM:614576
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617388
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Fine hair	ORPHA:228390
Costello Syndrome	Acanthosis nigricans, Hyperkeratosis, Failure to thrive in infancy	ORPHA:3071
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,...	ORPHA:35173
Chromomycosis	Hyperkeratosis, Hyperparakeratosis, Hyperkeratotic papule	ORPHA:182
Bleeding Disorder, Platelet-Type, 21	Alopecia	OMIM:617443
Gomez-Lopez-Hernandez Syndrome	Alopecia	OMIM:601853
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Pyoderma gangrenosum	OMIM:150550
Ullrich Congenital Muscular Dystrophy 1	Failure to thrive, Slender build, Follicular hyperkeratosis	OMIM:254090
Dowling-Degos Disease	Hyperkeratosis, Hyperkeratotic papule	ORPHA:79145
Autoimmune Polyendocrinopathy Type 2	Alopecia	ORPHA:3143
Chanarin-Dorfman Syndrome	Alopecia	OMIM:275630
Lymphatic Malformation 12	Hyperkeratosis	OMIM:620014
Gapo Syndrome	Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, ...	OMIM:230740
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Failure to thrive	OMIM:304790
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis	ORPHA:1028
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Hyperkeratosis, Failure to thrive in infancy	OMIM:301220
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:28378
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Johanson-Blizzard Syndrome	Alopecia, Failure to thrive, Abnormal hair pattern	ORPHA:2315
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:308800
Acquired Purpura Fulminans	Pyoderma gangrenosum, Macular purpura	ORPHA:49566
Dyskeratosis Congenita, Digenic	Alopecia, Failure to thrive, Sparse eyelashes, Nail dystrophy	OMIM:620040
Keutel Syndrome	Alopecia	ORPHA:85202
Trichotillomania	Alopecia	OMIM:613229
Naxos Disease	Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:601214
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Small for gestational age, Absent ...	OMIM:268400
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection	OMIM:158310
Sialidosis Type 1	Hyperkeratosis	ORPHA:812
Bartsocas-Papas Syndrome	Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye...	ORPHA:1234
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyelashes, Absent eyebrow, Alopecia, Small nail	ORPHA:166035
Acute Radiation Syndrome	Scaling skin, Skin ulcer	ORPHA:454831
Neonatal Lupus Erythematosus	Hyperkeratosis, Parakeratosis	ORPHA:398124
Hidrotic Ectodermal Dysplasia, Halal Type	Follicular hyperkeratosis	ORPHA:1809
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia	ORPHA:412057
Autosomal Dominant Hypocalcemia	Alopecia, Dry skin, Abnormal fingernail morphology, Abnormality of the nail	ORPHA:428
Gaucher Disease, Perinatal Lethal	Hyperkeratosis, Decreased body weight, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis	OMIM:608013
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Sparse hair, Alopecia, Abnormal toenail morphology	ORPHA:1005
Hemochromatosis, Type 1	Alopecia	OMIM:235200
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hyperkeratosis, Failure to thrive in infancy	OMIM:612852
Neutrophilic Dermatosis, Acute Febrile	Erythema, Pyoderma gangrenosum	OMIM:608068
Infantile Systemic Hyalinosis	Failure to thrive, Skin ulcer	ORPHA:2176
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal fingernail morphology	ORPHA:3453
Progeria-Short Stature-Pigmented Nevi Syndrome	Alopecia, Small for gestational age, Low posterior hairline	ORPHA:2959
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Erythema, Nail dystrophy, Failure to thrive, Onychogryposis	ORPHA:79396
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Acral ulceration	OMIM:162400
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Premature skin wrinklin...	ORPHA:363618
Hutchinson-Gilford Progeria Syndrome	Alopecia	OMIM:176670
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Brittle hair	OMIM:608612
Mandibuloacral Dysplasia	Sparse hair, Alopecia, Hypoplastic fingernail	ORPHA:2457
Immunodeficiency 7	Failure to thrive, Patchy alopecia	OMIM:615387
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Paronychia, Acral ulceration	OMIM:201300
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia	OMIM:600142
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin	ORPHA:79431
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Orthokeratosis, Subungual hyperkeratosis	OMIM:617337
Trichothiodystrophy 1, Photosensitive	Hyperkeratosis, Small for gestational age, Congenital nonbullous ichthyosiform erythroderma	OMIM:601675
Gapo Syndrome	Sparse eyebrow, Early balding, Alopecia, Sparse eyelashes	ORPHA:2067
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology	ORPHA:1647
Celiac Disease, Susceptibility To, 1	Alopecia, Failure to thrive, Weight loss	OMIM:212750
Poikiloderma With Neutropenia	Hyperkeratosis, Plantar hyperkeratosis, Palmoplantar keratoderma	OMIM:604173
Reynolds Syndrome	Skin ulcer	ORPHA:779
Fibrodysplasia Ossificans Progressiva	Alopecia	OMIM:135100
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis	ORPHA:163966
Satoyoshi Syndrome	Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis	ORPHA:3130
Mixed Connective Tissue Disease	Alopecia, Purpura	ORPHA:809
Singleton-Merten Syndrome 2	Hyperkeratosis	OMIM:616298
Punctate Palmoplantar Keratoderma Type 1	Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperkera...	ORPHA:79501
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Failure to thrive	OMIM:210210
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair	OMIM:127550
Omenn Syndrome	Alopecia, Failure to thrive	OMIM:603554
Adrenoleukodystrophy	Alopecia	OMIM:300100
Ectodermal Dysplasia-Skin Fragility Syndrome	Scaling skin, Nail dystrophy, Sparse hair, Failure to thrive, Alopecia universalis	ORPHA:158668
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Acral ulceration, Nail dystrophy, Nail dysplasia	OMIM:256800
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Nail dystrophy, Alopecia universalis	OMIM:240300
Atypical Werner Syndrome	Abnormal hair quantity, Alopecia, Failure to thrive, Abnormal hair morphology, Abnormal hair whor...	ORPHA:79474
Dominant Beta-Thalassemia	Failure to thrive in infancy, Pallor, Skin ulcer	ORPHA:231226
Limb-Mammary Syndrome	Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic...	ORPHA:69085
Spinocerebellar Ataxia 34	Epidermal hyperkeratosis	OMIM:133190
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Stillbirth, Erythema, Small nail	OMIM:308050
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail...	OMIM:106260
Leigh Syndrome	Alopecia, Frontal hirsutism, Failure to thrive, Hypertrichosis	ORPHA:506
Hajdu-Cheney Syndrome	Abnormal fingernail morphology, Synophrys, Low anterior hairline, Dry skin, Skin ulcer, Coarse ha...	ORPHA:955
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Nail dystrophy, Nail dysplasia	OMIM:226600
Vitamin D-Dependent Rickets, Type 2A	Failure to thrive, Alopecia universalis	OMIM:277440
Hypotrichosis And Recurrent Skin Vesicles	Follicular hyperkeratosis	OMIM:613102
Systemic Sclerosis	Alopecia, Nail bed telangiectasia, Digital ulcer, Acral ulceration	ORPHA:90291
Alstrom Syndrome	Truncal obesity, Alopecia	OMIM:203800
Milroy Disease	Hyperkeratosis	ORPHA:79452
Fucosidosis	Failure to thrive, Generalized hyperkeratosis	ORPHA:349
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo...	ORPHA:2232
Beta-Thalassemia Intermedia	Pallor, Skin ulcer	ORPHA:231222
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Alopecia totalis, Nail dystrophy, Failure to thrive, Abnormality of the periungual region	ORPHA:293978
Diffuse Cutaneous Systemic Sclerosis	Skin ulcer	ORPHA:220393
Premature Aging Syndrome, Penttinen Type	Hyperkeratosis, Thickened skin, Failure to thrive, Palmoplantar hyperkeratosis	OMIM:601812
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Dry skin, Small ...	OMIM:263650
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Follicular hyperkeratosis, ...	OMIM:257980
Mogs-Cdg	Alopecia, Fair hair, Long eyelashes, Hirsutism	ORPHA:79330
Hereditary Spherocytosis	Pallor, Skin ulcer	ORPHA:822
Leprosy	Absent eyebrow, Alopecia, Loss of eyelashes, Penetrating foot ulcers, Acral ulceration, Sparse bo...	ORPHA:548
Microscopic Polyangiitis	Erythema, Skin ulcer	ORPHA:727
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Alopecia totalis	OMIM:618775
Subacute Cutaneous Lupus Erythematosus	Hyperkeratosis	ORPHA:163525
Cushing Disease	Sparse scalp hair, Striae distensae, Increased body weight, Skin ulcer, Truncal obesity, Abdomina...	ORPHA:96253
Polyendocrine-Polyneuropathy Syndrome	Alopecia	ORPHA:453533
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair	OMIM:613451
Dermatomyositis	Abnormal hair quantity, Erythema, Skin ulcer, Weight loss, Dry skin, Abnormality of the nail	ORPHA:221
Autosomal Dominant Severe Congenital Neutropenia	Pyoderma gangrenosum	ORPHA:486
Cardiofaciocutaneous Syndrome	Hyperkeratosis, Palmoplantar keratoderma, Failure to thrive in infancy, Ichthyosis	ORPHA:1340
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Perianal erythema, Absent ...	OMIM:308205
Insulin-Resistance Syndrome Type B	Alopecia, Abnormality of body weight, Increased body weight, Weight loss, Decreased body weight, ...	ORPHA:2298
Livedoid Vasculopathy	Ecchymosis, Skin ulcer, Macular purpura	ORPHA:542643
Immunodeficiency, Common Variable, 10	Trachyonychia, Alopecia totalis	OMIM:615577
Xeroderma Pigmentosum	Alopecia, Failure to thrive, Erythema, Dry skin	ORPHA:910
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Abnormal eyelash morphology, Abnormal hair morphology, Leukonychia, Skin ulcer, Sca...	ORPHA:2526
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alopecia totalis,...	ORPHA:158687
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly	OMIM:610644
Cardiofaciocutaneous Syndrome 1	Hyperkeratosis, Failure to thrive, Ichthyosis	OMIM:115150
Beta-Thalassemia Major	Failure to thrive in infancy, Pallor, Skin ulcer	ORPHA:231214
Hypohidrotic Ectodermal Dysplasia	Hyperkeratosis, Failure to thrive	ORPHA:238468
Rothmund-Thomson Syndrome Type 2	Small for gestational age, Alopecia totalis, Erythema, Facial erythema, Sparse or absent eyelashe...	ORPHA:221016
Ane Syndrome	Alopecia	ORPHA:157954
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Parakeratosis	ORPHA:284426
Meige Disease	Skin ulcer	ORPHA:90186
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal hair morphology, Alopecia, Nail dystrophy	ORPHA:90154
Hereditary Acrokeratotic Poikiloderma	Erythema, Skin ulcer, Nail dystrophy, Dystrophic fingernails, Dystrophic toenail	ORPHA:2907
Rothmund-Thomson Syndrome Type 1	Small for gestational age, Alopecia totalis, Facial erythema, Sparse or absent eyelashes, Nail dy...	ORPHA:221008
Granulomatosis With Polyangiitis	Skin ulcer, Weight loss	OMIM:608710
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Hyperkeratosis, Ichthyosis	OMIM:148210
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia	ORPHA:93160
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Obesity	ORPHA:98907
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body...	ORPHA:2108
Bone Marrow Failure Syndrome 3	Hyperkeratosis, Failure to thrive	OMIM:617052
Pediatric Systemic Lupus Erythematosus	Alopecia	ORPHA:93552
Toxic Epidermal Necrolysis	Erythema, Skin ulcer, Weight loss	ORPHA:537
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia	OMIM:163200
Focal Dermal Hypoplasia	Alopecia, Erythema, Abnormality of the nail	ORPHA:2092
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Coarse hair, Sparse hair, Dry skin	ORPHA:2750
Catastrophic Antiphospholipid Syndrome	Skin ulcer	ORPHA:464343
Chime Syndrome	Sparse hair, Erythema, Skin ulcer, Fine hair	ORPHA:3474
Chronic Granulomatous Disease	Skin ulcer	ORPHA:379
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Failure to thrive in infancy, Nail dystrophy, Cachexia	ORPHA:37042
Rothmund-Thomson Syndrome	Sparse eyelashes, Alopecia totalis, Small for gestational age, Sparse eyebrow, Small nail, Nail d...	ORPHA:2909
Bethlem Myopathy	Hyperkeratosis	ORPHA:610
Pgm3-Cdg	Failure to thrive, Skin ulcer	ORPHA:443811
Classical-Like Ehlers-Danlos Syndrome Type 2	Alopecia, Redundant skin	ORPHA:536532
Hermansky-Pudlak Syndrome	Hyperkeratosis, Thickened skin, Weight loss	ORPHA:79430
Holocarboxylase Synthetase Deficiency	Alopecia	OMIM:253270
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Hyperkeratosis, Failure to thrive, Large for gestational age, Ichthyosis	OMIM:607721
H Syndrome	Abnormal eyebrow morphology, Alopecia, Hypertrichosis	ORPHA:168569
Psoriasis 14, Pustular	Parakeratosis	OMIM:614204
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashes, Failure to thrive, Small for gesta...	OMIM:264090
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Thin fingernail, Abnormal eyelash morphology, Abnormal hair morphology,...	ORPHA:2273
Chronic Graft Versus Host Disease	Alopecia, Erythema, Skin ulcer, Weight loss, Onycholysis, Nail dystrophy, Skin vesicle	ORPHA:99921
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Acral ulceration	OMIM:256840
Sympathetic Ophthalmia	Alopecia, Erythema, Poliosis	ORPHA:79098
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair, Failure to thrive	OMIM:302960
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Hirsutism	ORPHA:90795
Encephalocraniocutaneous Lipomatosis	Alopecia	OMIM:613001
Neuropathy, Hereditary Sensory And Autonomic, Type V	Acral ulceration	OMIM:608654
Biotinidase Deficiency	Alopecia	OMIM:253260
Leukocyte Adhesion Deficiency, Type I	Skin ulcer	OMIM:116920
Ramon Syndrome	Hyperkeratosis, Decreased body weight	OMIM:266270
Fusariosis	Paronychia, Skin ulcer	ORPHA:228119
Mandibuloacral Dysplasia With Type A Lipodystrophy	Sparse scalp hair, Alopecia, Onychogryposis	OMIM:248370
Immunoglobulin A Vasculitis	Erythema, Skin ulcer, Purpura	ORPHA:761
Distal Deletion 19P	Alopecia, Thick eyebrow	ORPHA:96129
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Loss of eyelashes, Hypertrichosis	OMIM:263700
Mycetoma	Cobblestone-like hyperkeratosis	ORPHA:2583
Behcet Syndrome	Erythema, Patchy alopecia	OMIM:109650
Reactive Arthritis	Hyperkeratosis, Weight loss	ORPHA:29207
Leprechaunism	Thickened skin, Hyperkeratosis, Decreased body weight, Acanthosis nigricans, Failure to thrive	ORPHA:508
Kid Syndrome	Failure to thrive, Congenital ichthyosiform erythroderma, Palmoplantar keratoderma, Follicular hy...	ORPHA:477
Relapsing Polychondritis	Alopecia, Erythema, Purpura	ORPHA:728
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Failure to thrive, Skin ulcer, Fine hair	ORPHA:534
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis	OMIM:620189
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis	OMIM:615510
Woodhouse-Sakati Syndrome	Alopecia, Scaling skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:3464
Orofaciodigital Syndrome I	Sparse hair, Alopecia, Dry hair	OMIM:311200
Koolen-De Vries Syndrome Due To A Point Mutation	Small for gestational age, Alopecia, Fair hair, Slender build	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Small for gestational age, Alopecia, Fair hair, Slender build	ORPHA:363958
Arthrogryposis And Ectodermal Dysplasia	Hyperkeratosis	OMIM:601701
Granulomatosis With Polyangiitis	Purpura, Skin ulcer, Weight loss	ORPHA:900
Biotinidase Deficiency	Alopecia	ORPHA:79241
Kikuchi-Fujimoto Disease	Alopecia, Erythema, Weight loss	ORPHA:50918
Simple Cryoglobulinemia	Purpura, Acral ulceration, Weight loss	ORPHA:91139
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas...	OMIM:181270
Noonan Syndrome 10	Hyperkeratosis	OMIM:616564
Cushing Syndrome Due To Ectopic Acth Secretion	Sparse scalp hair, Striae distensae, Increased body weight, Skin ulcer, Weight loss, Truncal obes...	ORPHA:99889
Malakoplakia	Skin ulcer	ORPHA:556
Colchicine Poisoning	Alopecia	ORPHA:31824
Autosomal Recessive Robinow Syndrome	Alopecia, Long eyelashes, Fingernail dysplasia	ORPHA:1507
Charcot-Marie-Tooth Disease Type 4B2	Penetrating foot ulcers	ORPHA:99956
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin ulcer, Purpura	OMIM:615688
Sweet Syndrome	Skin vesicle, Pyoderma gangrenosum	ORPHA:3243
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Failure to thrive, Paronychia, Nail dystrophy, Anonychia, Abnormality of the nail	ORPHA:79404
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Alopecia totalis, Loss of eyelashes, Lack of skin elasticity, Weight loss, Patchy...	ORPHA:740
Autosomal Dominant Robinow Syndrome	Alopecia, Curly eyelashes, Long eyelashes, Fingernail dysplasia, Ridged fingernail, Onychogryposi...	ORPHA:3107
Noonan Syndrome 2	Hyperkeratosis	OMIM:605275
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia	OMIM:269200
Parkes Weber Syndrome	Scaling skin, Skin ulcer	ORPHA:90307
6Q Terminal Deletion Syndrome	Hyperkeratosis, Failure to thrive, Obesity	ORPHA:75857
Wiskott-Aldrich Syndrome	Petechiae, Skin ulcer, Purpura	ORPHA:906
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Sparse eyelashes, Pterygium of nails, Premature graying of hai...	OMIM:305000
Adenocarcinoma Of The Anal Canal	Skin ulcer	ORPHA:424016
Amoebiasis Due To Free-Living Amoebae	Skin ulcer	ORPHA:68
Linear Nevus Sebaceus Syndrome	Alopecia	ORPHA:2612
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Fine hair	OMIM:241080
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Ecchymosis, Skin ulcer, Cachexia	ORPHA:2072
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema	OMIM:118650
Blau Syndrome	Skin ulcer	OMIM:186580
Encephalocraniocutaneous Lipomatosis	Abnormal eyelash morphology, Alopecia	ORPHA:2396
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis	ORPHA:79280
Turner Syndrome Due To Structural X Chromosome Anomalies	Alopecia, Abnormal fingernail morphology, Failure to thrive in infancy, Hypoplastic toenails, Obe...	ORPHA:99413
Turner Syndrome	Alopecia, Abnormal fingernail morphology, Failure to thrive in infancy, Hypoplastic toenails, Obe...	ORPHA:881
Mosaic Monosomy X	Alopecia, Abnormal fingernail morphology, Failure to thrive in infancy, Hypoplastic toenails, Obe...	ORPHA:99228
Monosomy X	Alopecia, Abnormal fingernail morphology, Failure to thrive in infancy, Hypoplastic toenails, Obe...	ORPHA:99226
Autoimmune Polyendocrinopathy Type 4	Alopecia	ORPHA:227990
Primary Sjögren Syndrome	Dry skin, Skin ulcer, Purpura	ORPHA:289390
Eec Syndrome	Hyperkeratosis	ORPHA:1896
Autoimmune Polyendocrinopathy Type 3	Alopecia	ORPHA:227982
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Abdominal obesity	OMIM:619321
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow	ORPHA:2636
Kindler Epidermolysis Bullosa	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2908
Lymphatic Filariasis	Hyperkeratosis	ORPHA:2035
Fabry Disease	Hyperkeratosis	ORPHA:324
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Failure to thrive, Acral ulceration	OMIM:256810
Blau Syndrome	Erythema, Dry skin, Skin ulcer	ORPHA:90340
Cowden Syndrome	Failure to thrive, Palmoplantar keratoderma, Generalized hyperkeratosis	ORPHA:201
De Sanctis-Cacchione Syndrome	Parakeratosis	OMIM:278800
Steinert Myotonic Dystrophy	Early balding, Alopecia	ORPHA:273
Adams-Oliver Syndrome 1	Alopecia, Supernumerary nipple, Small nail	OMIM:100300
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hyperkeratosis, Failure to thrive	OMIM:210710
Viss Syndrome	Sparse scalp hair, Alopecia, Cutis laxa, Failure to thrive, Hirsutism	OMIM:619472
Kanzaki Disease	Hyperkeratosis	OMIM:609242
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Follicular hyperkeratosis	OMIM:614557
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anonychia, Skin ulcer, Nail dystrophy, Trichiasis	ORPHA:95455
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Follicular hyperkeratosis	OMIM:225400
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hyperkeratosis	OMIM:604292
Vascular Ehlers-Danlos Syndrome	Alopecia, Redundant skin, Abnormality of hair texture, Abnormal eyelash morphology, Excessive wri...	ORPHA:286
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hyperkeratosis	OMIM:129900
Systemic Lupus Erythematosus	Alopecia	ORPHA:536
Plague	Dry skin, Skin ulcer	ORPHA:707
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Orthokeratotic hyperkeratosis, Epidermal thickening, Thickened skin	ORPHA:73223
Split Cord Malformation	Tufted hairs, Penetrating foot ulcers, Hypertrichosis	ORPHA:573278
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Failure to thrive	ORPHA:83617
Sarcoidosis	Alopecia, Weight loss	ORPHA:797
Kyphoscoliotic Ehlers-Danlos Syndrome	Follicular hyperkeratosis	ORPHA:536545
Ring Chromosome 13 Syndrome	Alopecia	ORPHA:96176
African Trypanosomiasis	Alopecia, Weight loss	ORPHA:3385
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis	ORPHA:276280
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter...	OMIM:601803
Proteus Syndrome	Thickened skin, Generalized hyperkeratosis, Cachexia	ORPHA:744
Restrictive Dermopathy	Generalized hyperkeratosis, Epidermal hyperkeratosis	ORPHA:1662
Warburg-Cinotti Syndrome	Follicular hyperkeratosis	OMIM:618175
Restrictive Dermopathy 1	Epidermal hyperkeratosis	OMIM:275210
Leukocyte Adhesion Deficiency	Pyoderma gangrenosum, Nail dystrophy	ORPHA:2968
Mend Syndrome	Failure to thrive, Ichthyosis	ORPHA:401973
Mend Syndrome	Failure to thrive, Ichthyosis	OMIM:300960

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 Ebp

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 Ebp.

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

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Ebp^{tm1(KOMP)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Ebp^{tm443323(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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