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Gene: Alox12b MGI:1274782

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
arachidonate 12-lipoxygenase, 12R type
Synonyms:
e-LOX2,  Aloxe2,  12R-LOX

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 Alox12b 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.

The table below shows human diseases associated to Alox12b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lamellar Ichthyosis
Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Erythroderma, Dry skin ORPHA:313
Ichthyosis, Congenital, Autosomal Recessive 2
Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar keratoderma OMIM:242100
Congenital Ichthyosiform Erythroderma
Pruritus, Palmoplantar keratoderma, Erythroderma ORPHA:79394
Self-Improving Collodion Baby
ORPHA:281122

The table below shows human diseases predicted to be associated to Alox12b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin OMIM:617571
Ulerythema Ophryogenesis
Miscarriage, Acne, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, C... ORPHA:3406
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin, Fragile skin OMIM:146590
Peeling Skin Syndrome 3
Pruritus, Erythema, White scaling skin OMIM:616265
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperkeratosis, Atop... ORPHA:530838
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis OMIM:617526
Keratosis, Focal Palmoplantar And Gingival
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... OMIM:148730
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer ORPHA:2337
Peeling Skin Syndrome 5
Hyperkeratosis, Epidermal acanthosis, Scaling skin OMIM:617115
Acral Self-Healing Collodion Baby
Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal... ORPHA:281127
Ichthyosis Vulgaris
Absent keratohyalin granules, Eczematoid dermatitis, Dry skin OMIM:146700
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Progressive Symmetric Erythrokeratodermia
Erythema, Palmoplantar keratoderma ORPHA:316
Vibratory Urticaria
Urticaria, Flushing, Facial erythema OMIM:125630
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Mastocytosis, Cutaneous
Urticaria, Erythema, Edema, Telangiectasia macularis eruptiva perstans OMIM:154800
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Amyloidosis, Primary Localized Cutaneous, 3
Pruritus, Cutaneous photosensitivity, Dry skin OMIM:617920
Epidermolytic Hyperkeratosis 1
Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis, Erythroderma OMIM:113800
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep... ORPHA:87503
Psoriasis 2
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin OMIM:602723
Erythema Nodosum, Familial
Erythema nodosum, Erythema OMIM:132990
Jessner Lymphocytic Infiltration Of The Skin
Pruritus, Cutaneous photosensitivity, Erythema ORPHA:33314
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dry skin ORPHA:454
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis OMIM:620148
Amyloidosis, Primary Localized Cutaneous, 1
Pruritus, Dry skin, Scaling skin OMIM:105250
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis OMIM:613000
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Death in infancy, Erythema OMIM:219095
Superficial Epidermolytic Ichthyosis
Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin ORPHA:455
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis... ORPHA:280779
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema, Palmoplantar keratoderma OMIM:617524
Atrophoderma Vermiculata
Pruritus, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule ORPHA:79100
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Pruritus, Erythema, Sc... ORPHA:90158
Erosive Pustular Dermatosis Of The Scalp
Pustule, Erythema ORPHA:222
Uv-Sensitive Syndrome 3
Cutaneous photosensitivity, Dry skin, Telangiectasia OMIM:614640
Palmoplantar Keratoderma And Congenital Alopecia 2
Hyperkeratosis, Dry skin, Palmoplantar hyperkeratosis, Facial erythema OMIM:212360
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis, Epidermal acanthosis, Fragile skin OMIM:615028
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Acral Peeling Skin Syndrome
Scaling skin, Erythema, Eczema, Excessive wrinkling of palmar skin ORPHA:263534
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Eryt... OMIM:612281
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema ORPHA:90160
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... ORPHA:64745
Peeling Skin Syndrome 4
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis OMIM:607936
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Quinquaud Folliculitis Decalvans
Pustule, Erythema, Recurrent skin infections ORPHA:346
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Classic Mycosis Fungoides
Skin rash, Eczema, Edema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin ORPHA:2584
Dermatitis, Atopic
Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial erythema, Pallor, Dry skin OMIM:603165
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Pruritus, Laryngeal edema, Angioed... ORPHA:100057
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome
Dry skin ORPHA:2271
Cutaneous Mastocytoma
Maculopapular exanthema, Telangiectasia of the skin, Pruritus, Angioedema, Erythema, Darier's sig... ORPHA:79455
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Epidermal acanthosis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosi... OMIM:616295
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Anonychia With Flexural Pigmentation
Dry skin OMIM:106750
Keratolytic Winter Erythema
Erythema OMIM:148370
Bazex Syndrome
Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin ORPHA:166113
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma OMIM:244850
Ichthyosis, Annular Epidermolytic, 1
Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Scaling skin, Orthokeratosis OMIM:607602
Uv-Sensitive Syndrome 1
Cutaneous photosensitivity, Dry skin, Telangiectasia OMIM:600630
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Vasculitis i... ORPHA:90159
Hydroa Vacciniforme
Superficial dermal perivascular inflammatory infiltrate, Hydroa vacciniforme, Eczema, Telangiecta... ORPHA:330058
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis OMIM:101850
Congenital Lethal Erythroderma
Urticaria, Congenital exfoliative erythroderma, Dry skin, Death in infancy ORPHA:1954
Erythema Of Acral Regions
Erythema OMIM:227000
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Erythema Palmare Hereditarium
Erythema OMIM:133000
Benign Chronic Pemphigus
Erythema OMIM:169600
Annular Erythema
Erythema OMIM:106500
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... ORPHA:79147
Cutaneous Small Vessel Vasculitis
Recurrent skin infections, Skin rash, Cutis marmorata, Erythema, Urticaria, Purpura ORPHA:889
Dermatoleukodystrophy
Hyperkeratosis ORPHA:1659
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Hyperkeratosis, Erythema, Epidermal acanthosis OMIM:613943
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis ORPHA:464318
Vulvovaginal Gingival Syndrome
Pruritus, Parakeratosis, Erythema, Epidermal acanthosis ORPHA:83453
Erythrokeratodermia Variabilis Et Progressiva 3
Epidermal acanthosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis OMIM:617525
Ichthyosis, Congenital, Autosomal Recessive 5
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis, Whit... OMIM:604777
Tooth Agenesis, Selective, 8
Dry skin OMIM:617073
Hypotrichosis 6
Pruritus, Erythema, Follicular hyperkeratosis OMIM:607903
Dowling-Degos Disease 2
Hyperkeratotic papule, Follicular hyperkeratosis OMIM:615327
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis OMIM:612908
Dermoodontodysplasia
Ectodermal dysplasia, Dry skin OMIM:125640
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lack of facial subcuta... ORPHA:90156
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis OMIM:615598
Huriez Syndrome
Dry skin, Lack of skin elasticity, Palmoplantar keratoderma ORPHA:384
Ataxia-Photosensitivity-Short Stature Syndrome
Urticaria, Cutaneous photosensitivity, Dry skin ORPHA:1184
Lupus Erythematosus Tumidus
Cutaneous photosensitivity, Deep dermal perivascular inflammatory infiltrate, Scaling skin ORPHA:90283
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Erythema ORPHA:36237
Dermatitis Herpetiformis
Eczema, Edema, Pruritus, Erythema, Urticaria, Skin vesicle ORPHA:1656
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Perioral erythema OMIM:248300
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Autosomal Erythropoietic Protoporphyria
Eczema, Edema, Pruritus, Erythema, Cutaneous photosensitivity ORPHA:79278
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis, Epidermal acanthosis, Cutis laxa ORPHA:79148
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... ORPHA:79481
Maculopapular Cutaneous Mastocytosis
Pruritus, Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flu... ORPHA:79457
Aicardi-Goutieres Syndrome 5
Scaling skin, Dry skin, Chilblains OMIM:612952
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Hyperkeratosis, Scaling skin, Death in childhood, Dry skin OMIM:614457
Protoporphyria, Erythropoietic, 1
Pruritus, Erythema, Eczema, Edema OMIM:177000
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis OMIM:101900
Erythrokeratodermia Variabilis
Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Cutaneous photosensitivi... ORPHA:317
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617574
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in early adulthood, Edema, Acantholysis, Palmoplantar hyperkeratosis, Death in adolescence,... OMIM:605676
Familial Cold Urticaria
Pruritus, Urticaria, Erythema, Dehydration ORPHA:47045
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Ichthyosis, Lamellar, Autosomal Dominant
Hyperkeratosis OMIM:146750
Recessive X-Linked Ichthyosis
Hyperkeratosis, Dry skin ORPHA:461
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... ORPHA:284426
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Complex Regional Pain Syndrome
Dry skin, Edema of the upper limbs, Erythema, Pedal edema ORPHA:83452
Aquagenic Palmoplantar Keratoderma
Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic... ORPHA:498359
Bathing Suit Ichthyosis
Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Scal... ORPHA:100976
Primary Erythromelalgia
Pruritus, Erythema ORPHA:90026
Dowling-Degos Disease 4
Pruritus, Epidermal acanthosis OMIM:615696
Hypotrichosis Simplex Of The Scalp
Parakeratosis, Epidermal acanthosis, Pruritus, Atopic dermatitis, Hyperkeratosis, Scaling skin ORPHA:90368
Keratoderma Hereditarium Mutilans With Ichthyosis
Scaling skin on fingertip, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hone... ORPHA:79395
Mycosis Fungoides
Pruritus, Erythema, Psoriasiform dermatitis, Eczema OMIM:254400
Thyrotropin-Releasing Hormone Deficiency
Dry skin OMIM:275120
Lamellar Ichthyosis
Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Erythroderma, Dry skin ORPHA:313
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering... ORPHA:158681
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Epidermal acanthosis, Cutis laxa, Scaling skin, Dry skin, Generalized hyperkeratosis ORPHA:2269
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis, Cutaneous photosensitivity ORPHA:735
Night Blindness, Congenital Stationary, Type 1C
Dry skin OMIM:613216
White Sponge Nevus 2
Hyperparakeratosis, Epidermal acanthosis, Edema OMIM:615785
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Crusting erythematous dermatitis, Palmoplantar hyperkeratosis, Telangiectasia, Thin ski... ORPHA:158673
Familial Cold Autoinflammatory Syndrome 3
Pruritus, Angioedema, Erythema, Dermatographic urticaria, Cold urticaria OMIM:614468
Diffuse Cutaneous Mastocytosis
Pruritus, Darier's sign, Urticaria, Dermatographic urticaria, Scaling skin, Erythroderma, Peau d'... ORPHA:79456
Sjögren-Larsson Syndrome
Urticaria, Hyperkeratosis, Erythema, Dry skin ORPHA:816
Ichthyosis With Confetti
Pruritus, Scaling skin, Palmoplantar hyperkeratosis, Erythroderma OMIM:609165
Ectodermal Dysplasia/Skin Fragility Syndrome
Ectodermal dysplasia, Fragile skin, Scaling skin, Palmoplantar hyperkeratosis OMIM:604536
Craniosynostosis-Mental Retardation-Clefting Syndrome
Dry skin OMIM:218650
Congenital Disorder Of Glycosylation, Type If
Death in infancy, Hyperkeratosis, Scaling skin, Erythroderma, Dry skin OMIM:609180
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Death in infancy, Dehydration OMIM:251850
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Erythema ORPHA:79099
Grubben-De Cock-Borghgraef Syndrome
Dry skin, Eczema ORPHA:2101
Bullous Pemphigoid
Urticaria, Erythema, Psoriasiform dermatitis, Eczema ORPHA:703
Peeling Skin Syndrome 1
Pruritus, Scaling skin, Erythroderma OMIM:270300
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin OMIM:308800
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema, Skin ulcer, Fragile skin ORPHA:542592
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma OMIM:615821
Spinocerebellar Ataxia Type 34
Urticaria, Dry skin ORPHA:1955
Subacute Cutaneous Lupus Erythematosus
Psoriasiform lesion, Discoid lupus rash, Hyperkeratosis, Cutaneous photosensitivity, Vasculitis i... ORPHA:163525
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Acantholysis, Facial edema, Pustule, Pruritus, Eosi... ORPHA:293173
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Pruritus, Dry skin, Eczema, Palmoplantar keratoderma OMIM:618535
Reticular Dysgenesis
Skin ulcer, Skin rash, Dehydration ORPHA:33355
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Epidermal acanthosis, Polyhydramnios, Dehydration OMIM:616069
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Riddle Syndrome
Dry skin OMIM:611943
Schopf-Schulz-Passarge Syndrome
Hyperkeratosis, Ectodermal dysplasia, Dry skin, Palmoplantar keratoderma OMIM:224750
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Sydenham Chorea
Erythema ORPHA:306731
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Pustule, Erythema OMIM:614204
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia, Dry skin, Scaling skin, Palmoplantar keratoderma OMIM:618373
Diabetes Mellitus, Transient Neonatal, 1
Dehydration OMIM:601410
Transgrediens Et Progrediens Palmoplantar Keratoderma
Recurrent bacterial skin infections, Plantar hyperkeratosis, Diffuse palmoplantar hyperkeratosis,... ORPHA:495
Xeroderma Pigmentosum Variant
Cutaneous photosensitivity, Dry skin, Telangiectasia ORPHA:90342
Diarrhea 4, Malabsorptive, Congenital
Dehydration OMIM:610370
Ectodermal Dysplasia With Mental Retardation And Syndactyly
Ectodermal dysplasia, Dry skin OMIM:600906
Chronic Hiccup
Dehydration ORPHA:396
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Sézary Syndrome
Edema, Pruritus, Palmoplantar keratoderma, Erythroderma, Dry skin ORPHA:3162
Ichthyosis Prematurity Syndrome
Epidermal acanthosis, Polyhydramnios, Pruritus, Dermatographic urticaria, Follicular hyperkeratos... OMIM:608649
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Erythema, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous abscess OMIM:147060
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Hyperkeratosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis OMIM:604117
Rosaï-Dorfman Disease
Erythema ORPHA:158014
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Scaling skin ORPHA:454831
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant
Ectodermal dysplasia, Dry skin OMIM:129490
Combined Malonic And Methylmalonic Aciduria
Dehydration OMIM:614265
Ichthyosis, Congenital, Autosomal Recessive 3
Hyperkeratosis, Erythema, Palmoplantar keratoderma OMIM:606545
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Dry skin, Follicular hyperkeratosis OMIM:617066
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia
Dry skin ORPHA:248
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Redundant skin OMIM:301021
Netherton Syndrome
Skin rash, Eczema, Dehydration, Urticaria, Erythroderma, Dry skin ORPHA:634
Phenylketonuria
Dry skin, Eczema OMIM:261600
Pili Torti-Onychodysplasia Syndrome
Ectodermal dysplasia, Dry skin, Eczema, Palmoplantar keratoderma ORPHA:2890
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Epidermal acanthosis, Patchy palmoplantar hyperkeratosis, Erythroderma OMIM:133200
Lymphatic Malformation 4
Hyperkeratosis, Prominent superficial veins, Pedal edema, Lymphedema OMIM:615907
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Facial erythema, Vasculitis in the skin, Malar rash OMIM:620321
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Epidermal acanthosis, Xerostomia, Hyperkeratosis, Dry skin OMIM:618527
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Perianal erythema, Perioral erythema, Erythroderma OMIM:614328
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Skin ulcer,... ORPHA:90280
Bone Marrow Failure Syndrome 4
Dry skin, Eczema OMIM:618116
Peroxisome Biogenesis Disorder 14B
Dry skin OMIM:614920
Prolidase Deficiency
Pruritus, Crusting erythematous dermatitis, Erythema, Skin ulcer, Hyperkeratosis, Cutaneous photo... ORPHA:742
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Thyroid Dyshormonogenesis 1
Dry skin OMIM:274400
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Chronic mucocutaneous candidiasis... OMIM:618282
Epidermolytic Palmoplantar Keratoderma
Epidermal acanthosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar... ORPHA:2199
Fixed Drug Eruption
Erythema, Crusting erythematous dermatitis, Generalized abnormality of skin ORPHA:293812
Isobutyryl-Coa Dehydrogenase Deficiency
Dehydration ORPHA:79159
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Dermoodontodysplasia
Ectodermal dysplasia, Dry skin ORPHA:1660
Angioedema, Hereditary, 1
Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema, Erythema OMIM:106100
Congenital Disorder Of Glycosylation, Type Iq
Hyperkeratosis, Dry skin, Eczema, Cutis laxa OMIM:612379
Adiposis Dolorosa
Recurrent skin infections, Telangiectasia of the skin, Xerostomia, Dry skin, Bruising susceptibility ORPHA:36397
Subcorneal Pustular Dermatosis
Pruritus, Erythema, Pustule ORPHA:48377
Hypothyroidism, Congenital, Nongoitrous, 4
Dry skin OMIM:275100
Epidermolysis Bullosa Dystrophica, Pretibial
Hyperkeratosis OMIM:131850
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca... ORPHA:294023
Neutrophilic Dermatosis, Acute Febrile
Cystic acne, Erythema, Pyoderma gangrenosum, Acne inversa OMIM:608068
Ameloonychohypohidrotic Syndrome
Dry skin, Seborrheic dermatitis OMIM:104570
Singleton-Merten Syndrome 2
Hyperkeratosis, Psoriasiform lesion OMIM:616298
Familial Melanoma
Dry skin ORPHA:618
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Ascites, Facial erythema ORPHA:284227
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Dry skin, Follicular hyperkeratosis ORPHA:486815
Hyperkeratosis Lenticularis Perstans
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer ORPHA:409
Ichthyosis, Congenital, Autosomal Recessive 2
Hyperkeratosis, Erythema, Epidermal acanthosis, Palmoplantar keratoderma OMIM:242100
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Dry skin, Prematurely aged appearance ORPHA:2617
Hypothyroidism, Congenital, Nongoitrous, 6
Dry skin OMIM:614450
Trichodysplasia-Xeroderma Syndrome
Dry skin ORPHA:3361
Immunodeficiency 58
Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Seborrheic dermatitis, Chroni... OMIM:618131
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, Cutaneous photosensitivity ORPHA:312
Harlequin Ichthyosis
Hyperkeratosis, Dehydration, Erythroderma ORPHA:457
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Parakeratosis, Epidermal acanthosis, Pruritus, Jaundice, Orthokeratosis, Dry skin OMIM:607626
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Amelo-Onycho-Hypohidrotic Syndrome
Hyperkeratosis, Dry skin ORPHA:1028
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hyper... OMIM:300918
Polyarteritis Nodosa
Erythema, Cutis marmorata, Skin ulcer ORPHA:767
Snakebite Envenomation
Ecchymosis, Angioedema, Erythema, Edema ORPHA:449285
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Follicular hyperkeratosis OMIM:277350
Epidermodysplasia Verruciformis, Susceptibility To, 4
Facial erythema OMIM:618307
Leopard Syndrome 3
Hyperkeratosis, Dry skin, Epidermal hyperkeratosis OMIM:613707
Odontoonychodermal Dysplasia
Plantar hyperkeratosis, Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Follicular h... OMIM:257980
Atelis Syndrome 1
Dry skin, Eczema OMIM:620184
Congenital Disorder Of Glycosylation, Type Im
Hyperkeratosis, Death in infancy, Inflammatory abnormality of the skin, Dry skin OMIM:610768
Recon Progeroid Syndrome
Progeroid facial appearance, Livedo reticularis, Dry skin, Scaling skin, Cutaneous photosensitivity OMIM:620370
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Olmsted Syndrome 2
Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratos... OMIM:619208
Porokeratosis 7, Multiple Types
Parakeratosis OMIM:614714
Porokeratosis 1, Multiple Types
Parakeratosis OMIM:175800
Autoinflammation With Arthritis And Dyskeratosis
Dry skin, Epidermal acanthosis, Follicular hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617388
Chronic Mucocutaneous Candidiasis
Skin rash, Pruritus, Erythema, Skin ulcer, Hyperkeratosis ORPHA:1334
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Folliculitis, Palmoplantar keratoderma, Facial erythema OMIM:612843
Pituitary Adenoma 4, Acth-Secreting
Edema, Poor wound healing, Facial erythema, Thin skin, Ecchymosis, Bruising susceptibility, Stria... OMIM:219090
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Pruritus, Erythroderma, Cutaneous pho... ORPHA:330064
Nodular Non-Suppurative Panniculitis
Erythema, Edema ORPHA:33577
Kanzaki Disease
Telangiectasia of the oral mucosa, Lymphedema, Lip telangiectasia, Angiokeratoma corporis diffusu... OMIM:609242
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Poor wound healing, Facial erythema, Palmoplantar keratoderma, Scaling skin, Dry skin ORPHA:1010
Immunoglobulin A Vasculitis
Skin rash, Edema, Pustule, Angioedema, Erythema, Skin ulcer, Urticaria, Bruising susceptibility, ... ORPHA:761
Mpdu1-Cdg
Scaling skin, Eczema ORPHA:79323
Congenital Heart Defects And Ectodermal Dysplasia
Dry skin OMIM:617364
Proteasome-Associated Autoinflammatory Syndrome 4
Erythema, Edema OMIM:619183
Uremic Pruritus
Inflammatory abnormality of the skin, Recurrent skin infections, Pruritus, Dry skin, Generalized ... ORPHA:94059
Glutamine Deficiency, Congenital
Neonatal death, Erythema OMIM:610015
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis OMIM:610227
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Epidermal acanthosis, Erythroderma OMIM:615022
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration ORPHA:28
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Eczematoid dermatit... OMIM:259100
Beta-Mercaptolactate Cysteine Disulfiduria
Dry skin ORPHA:1035
Omenn Syndrome
Pruritus, Dry skin, Edema, Erythroderma ORPHA:39041
Ichthyosis, Congenital, Autosomal Recessive 10
Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma OMIM:615024
Sunct Syndrome
Facial edema, Palpebral edema, Flushing, Facial erythema ORPHA:57145
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Dry skin ORPHA:3085
Congenital Disorder Of Glycosylation, Type Iil
Peau d'orange, Death in infancy, Hyperkeratosis, Dry skin OMIM:614576
Leopard Syndrome 2
Dry skin OMIM:611554
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Cutis marmorata, Pustule, Erythema, Livedo reticularis, Telangiectasia, Pustular rash,... OMIM:615934
Combined Malonic And Methylmalonic Acidemia
Dehydration ORPHA:289504
Agel Amyloidosis
Edema, Pruritus, Xerostomia, Cutis laxa, Blepharochalasis, Dry skin, Dermatological manifestation... ORPHA:85448
Trichothiodystrophy 6, Nonphotosensitive
Dry skin OMIM:616943
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper... OMIM:620014
Rhizomelic Chondrodysplasia Punctata
Dry skin ORPHA:177
Netherton Syndrome
Hypernatremic dehydration, Parakeratosis, Recurrent skin infections, Eczema, Angioedema, Urticari... OMIM:256500
Ddost-Cdg
Dry skin ORPHA:300536
Jung Syndrome
Dry skin ORPHA:2321
Transient Neonatal Diabetes Mellitus
Dehydration ORPHA:99886
Basan Syndrome
Ectodermal dysplasia, Palmoplantar keratoderma, Epidermal acanthosis OMIM:129200
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Adult-Onset Still Disease
Pruritus, Joint swelling, Erythema, Skin rash ORPHA:829
Lichen Planus Pemphigoides
Pruritus, Skin vesicle, Hyperkeratosis ORPHA:254478
Pityriasis Rubra Pilaris
Orthokeratosis, Subungual hyperkeratosis, Parakeratosis, Palmoplantar keratoderma OMIM:173200
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Dry skin, Prolonged neonatal jaundice ORPHA:95715
Hatipoglu Immunodeficiency Syndrome
Eczema, Poor wound healing, Atopic dermatitis, Premature graying of hair, Dry skin, Petechiae OMIM:620331
Combined Oxidative Phosphorylation Deficiency 47
Dehydration OMIM:618958
Palmoplantar Keratoderma, Punctate Type Ia
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis OMIM:148600
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Epidermal acanthosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar ke... OMIM:148700
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Eczema, Erythroderma, Scaling skin, Chronic oral candidiasis OMIM:606367
Kid Syndrome
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... ORPHA:477
Xeroderma Pigmentosum, Complementation Group F
Cutaneous photosensitivity, Erythema OMIM:278760
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis OMIM:136630
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Skin ulcer, Palmoplantar keratoderma ORPHA:659
Enteric Anendocrinosis
Dehydration ORPHA:83620
Noonan Syndrome 5
Dry skin, Polyhydramnios OMIM:611553
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Pruritus, Palmoplantar keratoderma, Scaling skin, Follicu... ORPHA:158668
Congenital Enterocyte Heparan Sulfate Deficiency
Edema, Dehydration ORPHA:103910
Meige Disease
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... ORPHA:90186
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Urticaria, Erythema, Purpura ORPHA:343
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Dry skin, Eczema OMIM:620191
Juvenile Dermatomyositis
Skin rash, Palpebral edema, Telangiectasia of the skin, Pruritus, Erythema, Skin ulcer, Cutaneous... ORPHA:93672
Acrodermatitis Enteropathica
Pustule, Erythema, Skin ulcer, Dry skin, Generalized abnormality of skin ORPHA:37
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Poor wound healing, Scaling skin, Cutaneous photosensitivity... ORPHA:101330
Bachmann-Bupp Syndrome
Dry skin, Polyhydramnios OMIM:619075
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Dry skin, Perianal erythema, Perioral erythema OMIM:201100
Hypotrichosis And Recurrent Skin Vesicles
Skin vesicle, Epidermal acanthosis, Follicular hyperkeratosis OMIM:613102
Central Diabetes Insipidus
Dehydration ORPHA:178029
Cole Disease
Epidermal acanthosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratode... OMIM:615522
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Angioedema, Erythema, Erythroderma ORPHA:139402
Cerebrooculofacioskeletal Syndrome 1
Dehydration, Death in childhood OMIM:214150
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis OMIM:615735
Fountain Syndrome
Facial edema, Erythema, Cutis marmorata ORPHA:3219
Aicardi-Goutieres Syndrome 1
Chilblains, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Death in adolescence, Dehydration, Death in childhood OMIM:560000
Trichothiodystrophy 1, Photosensitive
Death in infancy, Telangiectasia, Hyperkeratosis, Cutaneous photosensitivity, Erythroderma, Dry skin OMIM:601675
Mednik Syndrome
Neonatal death, Death in infancy, Erythema, Death in childhood OMIM:609313
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Dry skin OMIM:268020
Xfe Progeroid Syndrome
Prematurely aged appearance, Dry skin, Death in adolescence, Ascites, Cutaneous photosensitivity OMIM:610965
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Death in infancy, Subungual hyperkeratosis, Recurrent skin infections, Eczema, Perianal erythema,... OMIM:308205
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Prematurely aged appearance, Dry skin, Urticaria, Cutaneous photosensitivity ORPHA:220295
Distal Duplication 6P
Dry skin ORPHA:1745
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Dry skin, Prolonged neonatal jaundice ORPHA:226313
X-Linked Dominant Chondrodysplasia Punctata
Scaling skin, Erythroderma ORPHA:35173
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Erythema OMIM:614878
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Dry skin, Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkerat... ORPHA:69087
Graft Versus Host Disease
Inflammatory abnormality of the skin, Maculopapular exanthema, Scaling skin, Jaundice ORPHA:39812
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Dry skin OMIM:300860
Bacterial Toxic-Shock Syndrome
Recurrent skin infections, Skin rash, Edema, Scaling skin, Ecchymosis ORPHA:36234
Hydroxykynureninuria
Dry skin ORPHA:79155
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Dry skin, Hypohidrotic ectodermal dysplasia OMIM:614940
Gcgr-Related Hyperglucagonemia
Necrolytic migratory erythema ORPHA:438274
Noonan Syndrome 13
Dry skin, Bruising susceptibility, Lymphedema OMIM:619087
Microscopic Polyangiitis
Cutis marmorata, Skin rash, Erythema, Skin ulcer, Subcutaneous hemorrhage ORPHA:727
Hypohidrotic Ectodermal Dysplasia
Hyperkeratosis, Dry skin, Xerostomia, Eczema ORPHA:238468
Hypercalcemia, Infantile, 1
Dehydration OMIM:143880
Isovaleric Acidemia
Dehydration OMIM:243500
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Dry skin OMIM:262190
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Dehydration OMIM:602722
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Ectodermal dysplasia, Dry skin, Xerostomia, Periorbital wrinkles OMIM:614941
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Eczema, Pustule, Erythema, Xerostomia, Skin ulcer, Palmoplantar hyper... ORPHA:2907
Acrokeratoelastoidosis Of Costa
Orthokeratosis, Hyperkeratotic papule, Epidermal acanthosis, Palmoplantar hyperkeratosis ORPHA:38
Tangier Disease
Dry skin OMIM:205400
Squalene Synthase Deficiency
Cutaneous photosensitivity, Dry skin OMIM:618156
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dehydration ORPHA:79312
Methylmalonyl-Coa Epimerase Deficiency
Dehydration OMIM:251120
Porokeratosis 3, Multiple Types
Parakeratosis OMIM:175900
Iga Pemphigus
Neutrophilic infiltration of the skin, Acantholysis, Pruritus, Pustule, Skin vesicle, Generalized... ORPHA:555905
Beta-Ketothiolase Deficiency
Pallor, Edema, Dehydration ORPHA:134
Rat-Bite Fever
Skin rash, Maculopapular exanthema, Erythema nodosum, Pustule, Scaling skin, Morbilliform rash ORPHA:31205
Autosomal Agammaglobulinemia
Recurrent skin infections, Skin rash, Dehydration ORPHA:33110
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Hyperkeratosis, Epidermal acanthosis, Erythroderma OMIM:615023
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Erythema, Skin rash, Cerebral edema, Death in childhood OMIM:618321
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion, Erythroderma ORPHA:169154
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Dehydration OMIM:620126
Chikungunya
Maculopapular exanthema, Skin rash, Facial edema, Erythema nodosum, Pruritus, Crusting erythemato... ORPHA:324625
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Edema, Lymphedema, Skin ulcer, Chylothorax, Scaling skin, Pleural effusion, Dry skin, Erysipelas ORPHA:2526
Irida Syndrome
Hyperkeratosis, Pallor ORPHA:209981
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Pruritus, Erythema, Urticaria, Skin vesicle ORPHA:2135
Lipoid Proteinosis Of Urbach And Wiethe
Hyperkeratosis, Reduced epidermal extracellular matrix protein 1 protein expression OMIM:247100
Immunodeficiency 55
Dry skin, Recurrent skin infections, Eczema OMIM:617827
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Bruising susceptibility, Petechiae, Thin skin, Striae distensae OMIM:225310
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Jaundice, Dehydration, Oligohydramnios OMIM:208085
Lig4 Syndrome
Cutaneous photosensitivity, Erythema, Telangiectasia of the skin ORPHA:99812
Vitamin B12-Unresponsive Methylmalonic Acidemia
Dehydration ORPHA:27
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Noonan Syndrome 14
Dry skin, Bruising susceptibility, Polyhydramnios OMIM:619745
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Dehydration OMIM:264350
Carnitine Deficiency, Systemic Primary
Dehydration OMIM:212140
Pearson Marrow-Pancreas Syndrome
Erythema, Hydrops fetalis, Dehydration, Pallor, Death in childhood OMIM:557000
Glucose/Galactose Malabsorption
Hypertonic dehydration OMIM:606824
Corticosterone Methyloxidase Type Ii Deficiency
Dehydration OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Dehydration OMIM:203400
Congenital Short Bowel Syndrome
Dehydration OMIM:615237
Pemphigus Vulgaris
Urticaria, Recurrent cutaneous abscess formation, Acantholysis ORPHA:704
Immunodeficiency 23
Eczema, Erythema, Chronic mucocutaneous candidiasis, Vasculitis in the skin, Molluscum contagiosum OMIM:615816
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Epidermal acanthosis, Erythema, Hyperkeratosis, Stillbirth, Orthokeratosis OMIM:308050
Propionic Acidemia
Eczema, Dehydration OMIM:606054
Riddle Syndrome
Conjunctival telangiectasia, Erythema, Scaling skin, Telangiectasia ORPHA:420741
Acrokeratosis Verruciformis Of Hopf
Parakeratosis, Epidermal acanthosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperker... ORPHA:79151
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration OMIM:143860
Ifap Syndrome 2
Perioral erythema OMIM:619016
Aicardi-Goutieres Syndrome 9
Chilblains, Edema, Pericardial effusion, Ascites, Dry skin OMIM:619487
Restrictive Dermopathy 1
Prominent superficial blood vessels, Polyhydramnios, Epidermal hyperkeratosis, Stillbirth, Scalin... OMIM:275210
Generalized Pseudohypoaldosteronism Type 1
Pustule, Atopic dermatitis, Dehydration ORPHA:171876
Radio-Tartaglia Syndrome
Dry skin, Striae distensae OMIM:619312
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Dry skin, Polyhydramnios ORPHA:1812
Cholera
Palmoplantar cutis laxa, Miscarriage, Dehydration ORPHA:173
Proteus Syndrome
Hyperkeratosis, Epidermal acanthosis OMIM:176920
Dermatomyositis
Telangiectasia of the skin, Edema, Periorbital edema, Pruritus, Erythema, Skin ulcer, Acrocyanosi... ORPHA:221
Arthrogryposis And Ectodermal Dysplasia
Hyperkeratosis, Ectodermal dysplasia, Dry skin OMIM:601701
Palmoplantar Carcinoma, Multiple Self-Healing
Parakeratosis, Epidermal acanthosis, Ectodermal dysplasia, Palmoplantar keratoderma, Follicular h... OMIM:615225
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Dry skin OMIM:618797
Microvillus Inclusion Disease
Pruritus, Dehydration ORPHA:2290
Familial Tumoral Calcinosis
Erythema, Skin rash ORPHA:53715
Refsum Disease
Dry skin ORPHA:773
Atopic Keratoconjunctivitis
Dry skin ORPHA:163934
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Pallor, Edema, Dehydration ORPHA:20
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis, Erythroderma OMIM:242300
Alg11-Cdg
Dry skin ORPHA:280071
Behcet Syndrome
Erythema nodosum, Erythema OMIM:109650
Helix Syndrome
Dry skin, Xerostomia OMIM:617671
Adult Syndrome
Ectodermal dysplasia, Cutaneous photosensitivity, Dry skin, Eczema OMIM:103285
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Dehydration OMIM:177735
Cardiofaciocutaneous Syndrome
Redundant skin, Lymphedema, Hyperkeratosis, Excessive wrinkled skin, Palmoplantar keratoderma, Dr... ORPHA:1340
Resistance To Thyrotropin-Releasing Hormone Syndrome
Dry skin, Prolonged neonatal jaundice ORPHA:99832
Corneodermatoosseous Syndrome
Erythema, Palmoplantar keratoderma ORPHA:3194
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Dry skin OMIM:619244
Xeroderma Pigmentosum
Conjunctival telangiectasia, Telangiectasia of the skin, Erythema, Telangiectasia, Hyperkeratosis... ORPHA:910
19Q13.11 Microdeletion Syndrome
Dry skin ORPHA:217346
Den Hoed-De Boer-Voisin Syndrome
Dry skin, Death in adolescence, Oligohydramnios OMIM:619229
Early-Onset Familial Hypoaldosteronism
Dehydration ORPHA:556030
Chromosome 19Q13.11 Deletion Syndrome, Distal
Reduced subcutaneous adipose tissue, Dry skin OMIM:613026
Myoectodermal Gonadal Dysgenesis Syndrome
Dry skin, Scaling skin OMIM:618419
Immunodeficiency, Common Variable, 8, With Autoimmunity
Erythema nodosum, Psoriasiform lesion OMIM:614700
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent skin infections, Erythema, Palmoplantar keratoderma, Generalized abnormality of skin, F... ORPHA:79396
Warburg-Cinotti Syndrome
Poor wound healing, Erythema, Joint swelling, Thin skin, Follicular hyperkeratosis OMIM:618175
Tooth Agenesis, Selective, 4
Dry skin, Palmar hyperkeratosis OMIM:150400
Shigellosis
Urticaria, Dehydration, Purpura ORPHA:810
Incontinentia Pigmenti
Hyperkeratosis, Erythema, Maculopapular exanthema, Pallor OMIM:308300
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Pruritus, Malar rash ORPHA:85436
Cystinosis
Dehydration ORPHA:213
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Dehydration OMIM:251000
Wolcott-Rallison Syndrome
Jaundice, Ascites, Dehydration ORPHA:1667
Septo-Optic Dysplasia Spectrum
Dry skin ORPHA:3157
Incontinentia Pigmenti
Telangiectasia of the skin, Skin rash, Erythema, Skin ulcer, Hyperkeratosis ORPHA:464
9P13 Microdeletion Syndrome
Dry skin ORPHA:324313
Fucosidosis
Bruising susceptibility, Dry skin, Angiokeratoma, Petechiae OMIM:230000
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Dehydration, Oligohydramnios OMIM:263200
Familial Keratoacanthoma
Hyperkeratosis, Skin ulcer ORPHA:493
Vipoma
Erythema, Dehydration, Intermittent jaundice, Ascites, Subcutaneous lipoma ORPHA:97282
Parkes Weber Syndrome
Prominent superficial blood vessels, Scaling skin, Skin ulcer ORPHA:90307
Rapp-Hodgkin Syndrome
Anhidrotic ectodermal dysplasia, Dry skin, Palmoplantar keratoderma OMIM:129400
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Dry skin, Prolonged neonatal jaundice ORPHA:90674
Dyskeratosis Congenita, Autosomal Dominant 3
Premature graying of hair, Dry skin OMIM:613990
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Skin rash, Periorbital edema, Erythema, Bruising susceptibility, Erysipelas ORPHA:32960
Alternating Hemiplegia Of Childhood
Pallor, Dehydration, Flushing ORPHA:2131
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Cranioectodermal Dysplasia 3
Ectodermal dysplasia, Dry skin, Cutis laxa OMIM:614099
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Dehydration OMIM:615453
Adult Syndrome
Dry skin, Skin ulcer ORPHA:978
Adrenal Hypoplasia, Congenital
Dehydration OMIM:300200
Osteootohepatoenteric Syndrome
Pruritus, Dehydration, Prolonged neonatal jaundice OMIM:619377
Familial Renal Glucosuria
Dehydration ORPHA:69076
Ectodermal Dysplasia/Short Stature Syndrome
Hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis OMIM:616029
Toxic Epidermal Necrolysis
Erythema, Skin ulcer, Acantholysis ORPHA:537
Glucose-Galactose Malabsorption
Dehydration ORPHA:35710
Familial Mediterranean Fever
Skin rash, Erythema, Pedal edema, Ascites, Erysipelas ORPHA:342
Secondary Short Bowel Syndrome
Dehydration ORPHA:95427
Koolen-De Vries Syndrome
Dry skin ORPHA:96169
Restrictive Dermopathy
Polyhydramnios, Epidermal hyperkeratosis, Scaling skin, Generalized hyperkeratosis, Dermal transl... ORPHA:1662
3-Methylglutaconic Aciduria, Type Viib
Polyhydramnios, Dehydration OMIM:616271
Autosomal Dominant Hypocalcemia
Dry skin, Eczema ORPHA:428
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Dehydration OMIM:214700
Kikuchi-Fujimoto Disease
Skin rash, Palpebral edema, Pruritus, Pustule, Erythema, Cutaneous photosensitivity, Vasculitis i... ORPHA:50918
Kindler Epidermolysis Bullosa
Recurrent skin infections, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Cutaneous photosen... ORPHA:2908
Koolen-De Vries Syndrome
Dry skin, Eczema OMIM:610443
Congenital Tufting Enteropathy
Dehydration ORPHA:92050
Rothmund-Thomson Syndrome Type 2
Facial edema, Plantar hyperkeratosis, Erythema, Facial erythema ORPHA:221016
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata, Dehydration OMIM:259900
Stevens-Johnson Syndrome
Erythema, Acantholysis ORPHA:36426
Dend Syndrome
Dehydration ORPHA:79134
Trichothiodystrophy
Congenital exfoliative erythroderma, Prematurely aged appearance, Eczema, Dry skin, Cutaneous pho... ORPHA:33364
Blau Syndrome
Skin rash, Erythema nodosum, Erythema, Xerostomia, Skin ulcer, Joint swelling, Dry skin ORPHA:90340
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Dry skin ORPHA:2637
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Dry skin, Eczema ORPHA:508542
21Q22.11Q22.12 Microdeletion Syndrome
Dry skin ORPHA:261323
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Skin rash, Epidermal acanthosis, Pustule, Joint swelling, Hyperkeratosis OMIM:612852
Nestor-Guillermo Progeria Syndrome
Prominent superficial veins, Dry skin, Progeroid facial appearance OMIM:614008
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Dry skin OMIM:619306
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Fetal ascites, Erythema, Atopic dermatitis, Facial erythema,... OMIM:619503
Dubowitz Syndrome
Cutaneous photosensitivity, Dry skin, Cutis marmorata, Eczema ORPHA:235
Methylmalonic Aciduria, Cblb Type
Dehydration OMIM:251110
Localized Scleroderma
Erythema ORPHA:90289
Intellectual Developmental Disorder, Autosomal Dominant 54
Dry skin, Eczema OMIM:617799
Chime Syndrome
Hyperkeratosis, Erythema, Skin ulcer ORPHA:3474
Huriez Syndrome
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis OMIM:181600
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Periorbital wrinkles, Dry skin, Hypohidrotic ectodermal dysplasia, Eczema OMIM:305100
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Dry skin, Oligohydramnios ORPHA:163956
Punctate Palmoplantar Keratoderma Type 1
Epidermal acanthosis, Abnormal epidermal morphology, Palmoplantar hyperkeratosis, Palmoplantar ke... ORPHA:79501
Bloom Syndrome
Cutaneous photosensitivity, Malar rash, Facial telangiectasia in butterfly midface distribution, ... OMIM:210900
Eec Syndrome
Hyperkeratosis, Dry skin, Xerostomia ORPHA:1896
Urachal Cyst
Erythema ORPHA:488
Focal Dermal Hypoplasia
Erythema, Telangiectasia of the skin, Thin skin ORPHA:2092
Renal Hypoplasia
Dehydration ORPHA:93101
Late-Onset Isolated Acth Deficiency
Dry skin ORPHA:199299
Barber-Say Syndrome
Premature skin wrinkling, Dry skin, Redundant skin, Dermal translucency OMIM:209885
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Rothmund-Thomson Syndrome Type 1
Facial edema, Plantar hyperkeratosis, Telangiectasia, Facial erythema ORPHA:221008
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Erythema OMIM:614653
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Decreased adipose tissue around neck, Cutis marmorata, Lack ... OMIM:606721
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypertonic dehydration OMIM:125800
Rabson-Mendenhall Syndrome
Premature graying of hair, Dry skin, Reduced subcutaneous adipose tissue ORPHA:769
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Hypertonic dehydration OMIM:304800
Naxos Disease
Subungual hyperkeratosis, Epidermal acanthosis, Acantholysis, Diffuse palmoplantar hyperkeratosis... OMIM:601214
Methylmalonic Aciduria, Cbla Type
Dehydration OMIM:251100
Glucagonoma
Skin rash, Necrolytic migratory erythema, Pruritus, Intermittent jaundice, Ascites, Subcutaneous ... ORPHA:97280
Ectodermal Dysplasia And Immunodeficiency 2
Anhidrotic ectodermal dysplasia, Dry skin OMIM:612132
Hallermann-Streiff Syndrome
Dry skin, Telangiectasia OMIM:234100
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Lip telangiectasia, An... ORPHA:79280
Sympathetic Ophthalmia
Erythema, Macular edema ORPHA:79098
Focal Facial Dermal Dysplasia Type Iv
Abnormal epidermal morphology ORPHA:398189
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Dehydration ORPHA:90791
Dopamine Beta-Hydroxylase Deficiency
Dehydration ORPHA:230
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Progeroid facial appearance, Dr... OMIM:133540
Scorpion Envenomation
Purpura, Erythema, Edema, Pulmonary edema ORPHA:466677
Kawasaki Disease
Palmoplantar erythema, Jaundice, Skin rash, Edema ORPHA:2331
Melas
Erythema ORPHA:550
Aicardi-Goutières Syndrome
Cutis marmorata, Chilblains, Dry skin, Prolonged neonatal jaundice, Acrocyanosis ORPHA:51
Primary Sjögren Syndrome
Cutis marmorata, Erythema nodosum, Xerostomia, Skin ulcer, Dry skin, Purpura ORPHA:289390
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Hydrops fetalis, Dehydration ORPHA:79282
Tangier Disease
Dry skin ORPHA:31150
Marburg Hemorrhagic Fever
Skin rash, Maculopapular exanthema, Jaundice, Dehydration, Bruising susceptibility, Petechiae ORPHA:99826
Oculocerebrorenal Syndrome Of Lowe
Joint swelling, Skin ulcer, Dehydration, Death in infancy ORPHA:534
Lysosomal Acid Lipase Deficiency
Pruritus, Jaundice, Ascites, Dehydration ORPHA:275761
Menkes Disease
Spontaneous hematomas, Dry skin, Prolonged neonatal jaundice ORPHA:565
Ablepharon Macrostomia Syndrome
Excessive wrinkled skin, Dry skin, Redundant skin ORPHA:920
Oligomeganephronia
Dehydration ORPHA:2260
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Hyperkeratosis, Prolonged neonatal jaundice, Stillbirth, Death in childhood, Dr... OMIM:210710
Chronic Graft Versus Host Disease
Poor wound healing, Erythema, Xerostomia, Skin ulcer, Skin vesicle, Pleural effusion, Ascites ORPHA:99921
Chand Syndrome
Dry skin ORPHA:1401
Limb-Mammary Syndrome
Psoriasiform dermatitis, Dry skin ORPHA:69085
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Progeroid facial appearance, Dr... OMIM:216400
Bartter Syndrome, Type 3
Dehydration OMIM:607364
Plague
Chapped lip, Skin rash, Edema, Erythema nodosum, Skin ulcer, Dry skin ORPHA:707
Colchicine Poisoning
Dehydration ORPHA:31824
Woodhouse-Sakati Syndrome
Scaling skin ORPHA:3464
Acute Adrenal Insufficiency
Dry skin ORPHA:95409
Scalp-Ear-Nipple Syndrome
Cutaneous photosensitivity, Dry skin, Palpebral edema OMIM:181270
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Dry skin, Palmoplantar hyperkeratosis OMIM:280000
Darier-White Disease
Pruritus, Subungual hyperkeratotic fragments, Acantholysis OMIM:124200
Noonan Syndrome 1
Dry skin, Chylothorax, Bruising susceptibility, Lymphedema OMIM:163950
Hajdu-Cheney Syndrome
Dry skin, Skin ulcer ORPHA:955
Proteasome-Associated Autoinflammatory Syndrome 1
Progeroid facial appearance, Erythema nodosum, Erythema, Death in adolescence, Premature graying ... OMIM:256040
Pyruvate Carboxylase Deficiency
Dehydration ORPHA:3008
Pearson Syndrome
Corneal stromal edema, Cutaneous photosensitivity, Hydrops fetalis, Dehydration ORPHA:699
Hypothyroidism, Congenital, Nongoitrous, 2
Dry skin OMIM:218700
Neuroleptic Malignant Syndrome
Dehydration ORPHA:94093
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent skin infections, Edema, Dehydration, Pyoderma, Fragile skin ORPHA:79404
Syndromic Diarrhea
Dry skin ORPHA:84064
Zollinger-Ellison Syndrome
Jaundice, Erythema ORPHA:913
Bartsocas-Papas Syndrome 1
Dry skin OMIM:263650
Relapsing Polychondritis
Erythema, Purpura ORPHA:728
Infantile Nephropathic Cystinosis
Dehydration ORPHA:411629
Alzahrani-Kuwahara Syndrome
Dry skin, Eczema OMIM:619268
Paternal Uniparental Disomy Of Chromosome 6
Dehydration, Oligohydramnios ORPHA:96191
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Urticaria, Hyperkeratosis, Erythema, Eczema ORPHA:2273
Orofaciodigital Syndrome Type 1
Dry skin ORPHA:2750
Multiple Endocrine Neoplasia Type 4
Erythema, Subcutaneous lipoma ORPHA:276152
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Dehydration ORPHA:168558
Ablepharon-Macrostomia Syndrome
Premature skin wrinkling, Dry skin, Redundant skin OMIM:200110
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Polyhydramnios ORPHA:223
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Dehydration ORPHA:289548
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Dehydration ORPHA:90038
Addison Disease
Dry skin ORPHA:85138
Distal Renal Tubular Acidosis
Dehydration ORPHA:18
Isolated Permanent Neonatal Diabetes Mellitus
Dehydration ORPHA:99885
Pseudoxanthoma Elasticum
Civatte bodies, Cutis laxa OMIM:264800
Exercise-Induced Malignant Hyperthermia
Dry skin, Flushing ORPHA:466650
Juvenile Nephropathic Cystinosis
Dehydration ORPHA:411634
Microsporidiosis
Dehydration ORPHA:2552
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Prominent scalp veins, Prematurely aged appearance, Prematur... OMIM:264090
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Erythema, Fragile skin OMIM:614748
Bartter Syndrome Type 4
Polyhydramnios, Dehydration ORPHA:89938
Microphthalmia With Linear Skin Defects Syndrome
Erythema ORPHA:2556
Bartter Syndrome, Type 1, Antenatal
Polyhydramnios, Dehydration OMIM:601678
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Miscarriage, Acne, Dehydration ORPHA:90794
Cystinosis, Nephropathic
Dehydration OMIM:219800
Bartter Syndrome, Type 2, Antenatal
Polyhydramnios, Dehydration OMIM:241200
Primary Fanconi Renotubular Syndrome
Dehydration ORPHA:3337
Cystic Fibrosis
Dehydration OMIM:219700
Trichorhinophalangeal Syndrome, Type Ii
Redundant skin in infancy, Dry skin, Cutis laxa OMIM:150230
Proximal Renal Tubular Acidosis
Dehydration ORPHA:47159
Multiple Endocrine Neoplasia Type 1
Dehydration ORPHA:652
Hereditary Sensory And Autonomic Neuropathy Type 4
Dry skin, Bruising susceptibility ORPHA:642
Baller-Gerold Syndrome
Erythema OMIM:218600
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Palmoplantar erythema OMIM:612474
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Epidermal acanthosis, Ecz... ORPHA:83617
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Dry skin ORPHA:99646
Congenital Ichthyosiform Erythroderma
Pruritus, Palmoplantar keratoderma, Erythroderma ORPHA:79394
Self-Improving Collodion Baby
ORPHA:281122

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 Alox12b

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 Alox12b.

No publications found that use IMPC mice or data for Alox12b.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Alox12btm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Alox12btm289829(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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