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Gene: Abca12 MGI:2676312

Gene Summary

Name:

ATP-binding cassette, sub-family A member 12

Synonyms:

4833417A11Rik, 4832428G11Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage
abnormal facial morphology	Abca12^em1(IMPC)J	HOM	E18.5
preweaning lethality, complete penetrance	Abca12^em1(IMPC)J	HOM	Early adult
abnormal outer ear morphology	Abca12^em1(IMPC)J	HOM	E18.5
abnormal skin appearance	Abca12^em1(IMPC)J	HOM	E18.5
edema	Abca12^em1(IMPC)J	HOM	E18.5

Download data as: TSV XLS

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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.

X-ray

XRay Images Forepaw

9 Images

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Gross Morphology Embryo E18.5

Images

4 Images

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MicroCT E18.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Electroretinography 3

Fundus file

13 Images

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Combined SHIRPA and Dysmorphology

Images

3 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Gross Morphology Placenta E18.5

Images

3 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Electrocardiogram (ECG)

Waveform Image

15 Images

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Human diseases caused by Abca12 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 Abca12 (5 diseases)
Human diseases predicted to be associated with Abca12 (1141 diseases)

The table below shows human diseases associated to Abca12 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Lamellar Ichthyosis	Pruritus, Lack of skin elasticity, Dehydration, Erythroderma, Hyperkeratosis, Ichthyosis, Dry skin	ORPHA:313
Harlequin Ichthyosis	Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis, Erythroderma	ORPHA:457
Ichthyosis, Congenital, Autosomal Recessive 4B	Neonatal death, Death in infancy, Congenital ichthyosiform erythroderma, Everted lower lip vermilion	OMIM:242500
Congenital Ichthyosiform Erythroderma	Pruritus, Palmoplantar keratoderma, Erythroderma, Ichthyosis	ORPHA:79394
Ichthyosis, Congenital, Autosomal Recessive 4A	Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma	OMIM:601277

The table below shows human diseases predicted to be associated to Abca12 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ichthyosis, Lamellar, Autosomal Dominant	Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
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
Ulerythema Ophryogenesis	Acne, Miscarriage, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, C...	ORPHA:3406
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:617574
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand...	ORPHA:64745
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Peeling Skin Syndrome 6	Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Porokeratosis Plantaris Palmaris Et Disseminata	Pruritus, Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis	ORPHA:737
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos...	ORPHA:454
Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome	Palmoplantar keratoderma, Ichthyosis	ORPHA:281201
Palmoplantar Keratoderma, Punctate Type Ii	Porokeratosis, Spinous keratoses of palms and soles	OMIM:175860
Congenital Panfollicular Nevus	Pruritus, Hyperkeratosis	ORPHA:139414
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ...	OMIM:601952
Aquagenic Palmoplantar Keratoderma	Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic...	ORPHA:498359
White Sponge Nevus 2	Hyperparakeratosis, Edema	OMIM:615785
Bazex Syndrome	Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosi...	ORPHA:166113
Huriez Syndrome	Dry skin, Lack of skin elasticity, Sclerodactyly, Palmoplantar keratoderma	ORPHA:384
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis	OMIM:101900
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Lamellar Ichthyosis	Pruritus, Lack of skin elasticity, Dehydration, Erythroderma, Hyperkeratosis, Ichthyosis, Dry skin	ORPHA:313
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Erythroderma, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Generalized ...	OMIM:612281
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Ichthyosis, Congenital, Autosomal Recessive 14	Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu...	OMIM:617571
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin	OMIM:602723
Palmoplantar Keratoderma And Congenital Alopecia 2	Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly	OMIM:212360
Keratoderma Hereditarium Mutilans With Ichthyosis	Scaling skin on fingertip, Parakeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Honeycomb...	ORPHA:79395
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Vulvovaginal Gingival Syndrome	Pruritus, Parakeratosis, Erythema	ORPHA:83453
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr...	OMIM:604777
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Erythema migrans, Skin vesicle	ORPHA:158681
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperkeratosis, Atop...	ORPHA:530838
Ichthyosis, Annular Epidermolytic, 1	Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform eryth...	OMIM:607602
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Classic Mycosis Fungoides	Skin rash, Eczema, Edema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin	ORPHA:2584
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:615821
Bathing Suit Ichthyosis	Parakeratosis, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Palmoplantar scaling sk...	ORPHA:100976
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis	ORPHA:79503
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta...	OMIM:300918
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker...	OMIM:617526
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl...	ORPHA:284426
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
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis	OMIM:131850
Recessive X-Linked Ichthyosis	Hyperkeratosis, Dry skin, Ichthyosis	ORPHA:461
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Ichthyosis Vulgaris	Eczematoid dermatitis, Dry skin, Ichthyosis	OMIM:146700
Hypotrichosis Simplex Of The Scalp	Parakeratosis, Pruritus, Atopic dermatitis, Hyperkeratosis, Scaling skin	ORPHA:90368
Olmsted Syndrome 2	Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa...	OMIM:619208
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Insulin-Resistance Syndrome Type A	Hyperkeratosis	ORPHA:2297
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin, Fragile skin	OMIM:146590
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos...	OMIM:614594
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Palmoplantar keratoderma, Lack of skin elasticity	ORPHA:1366
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla...	ORPHA:312
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ...	OMIM:242300
Verrucous Hemangioma	Inflammatory abnormality of the skin, Hyperkeratotic papule	ORPHA:464318
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin	OMIM:618527
Erythrokeratodermia Variabilis	Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Dry skin	ORPHA:317
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome	Dry skin, Ichthyosis	ORPHA:2271
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Oral ulcer, Facial erythema, Vasculi...	OMIM:620321
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep...	ORPHA:87503
Superficial Epidermolytic Ichthyosis	Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Ichthyosis	ORPHA:455
Dermatitis, Atopic	Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial erythema, Pallor, Ichthyos...	OMIM:603165
Peeling Skin Syndrome 5	Hyperkeratosis, Scaling skin	OMIM:617115
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Graham Little-Piccardi-Lassueur Syndrome	Pruritus, Perifollicular hyperkeratosis	ORPHA:505
Atrophoderma Vermiculata	Hyperkeratotic papule, Erythema, Follicular hyperkeratosis, Pruritus	ORPHA:79100
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ...	ORPHA:90280
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa	ORPHA:79148
Parana Hard Skin Syndrome	Hyperkeratosis, Thickened skin	ORPHA:2812
Psoriasis 14, Pustular	Pustule, Parakeratosis, Erythema, Psoriasiform dermatitis	OMIM:614204
Cutaneous Mastocytoma	Maculopapular exanthema, Telangiectasia of the skin, Pruritus, Dyspnea, Angioedema, Erythema, Thi...	ORPHA:79455
Anonychia With Flexural Pigmentation	Hyperkeratosis, Follicular hyperkeratosis	ORPHA:69125
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Death in childhood, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform e...	OMIM:614457
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis	ORPHA:79151
Non-Epidermolytic Palmoplantar Keratoderma	Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer	ORPHA:2337
Sjögren-Larsson Syndrome	Hyperkeratosis, Erythema, Dry skin, Ichthyosis	ORPHA:816
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma	OMIM:133200
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling skin, Folli...	OMIM:616295
Idiopathic Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Pruritus, Erythema, Sc...	ORPHA:90158
Familial Reactive Perforating Collagenosis	Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Abnormal oral mu...	ORPHA:79147
Lipedema	Edema	OMIM:614103
Amyloidosis, Primary Localized Cutaneous, 3	Pruritus, Dry skin	OMIM:617920
Netherton Syndrome	Hypernatremic dehydration, Parakeratosis, Recurrent skin infections, Eczema, Angioedema, Congenit...	OMIM:256500
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Epidermal hyperkeratosis, Dermal transluc...	OMIM:137940
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Parakeratosis, Pruritus, Ichthyosis, Orthokeratosis, Dry skin	OMIM:607626
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Pruritus, Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis	ORPHA:79399
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin	OMIM:308800
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Pruritus, Hyperkeratosis, Palmoplantar hyperkeratosis	ORPHA:89838
Schopf-Schulz-Passarge Syndrome	Hyperkeratosis, Dry skin, Palmoplantar keratoderma	OMIM:224750
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
Ichthyosis, Congenital, Autosomal Recessive 8	Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Hypotrichosis 6	Pruritus, Erythema, Follicular hyperkeratosis	OMIM:607903
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Pruritus, Dry skin, Eczema, Palmoplantar keratoderma	OMIM:618535
Lichen Planus Pemphigoides	Skin vesicle, Hyperkeratosis, Pruritus	ORPHA:254478
Acral Peeling Skin Syndrome	Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin	ORPHA:263534
Familial Benign Chronic Pemphigus	Skin vesicle, Hyperkeratosis, Erythema, Acantholysis	ORPHA:2841
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Dry skin, Death in infancy, Ichthyosis	ORPHA:1954
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Cutis laxa, Generalized ichthyosis, Scaling skin, Dry skin, Generalized hyperkeratosis	ORPHA:2269
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis	OMIM:618546
Progressive Symmetric Erythrokeratodermia	Erythema, Palmoplantar keratoderma	ORPHA:316
Congenital Disorder Of Glycosylation, Type Iq	Eczema, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin	OMIM:612379
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Asbestos Intoxication	Edema, Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular in...	ORPHA:2302
Congenital Disorder Of Glycosylation, Type If	Death in infancy, Hyperkeratosis, Scaling skin, Erythroderma, Dry skin	OMIM:609180
Peeling Skin Syndrome 4	Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthokeratosis	OMIM:607936
Netherton Syndrome	Recurrent respiratory infections, Skin rash, Eczema, Asthma, Dehydration, Urticaria, Ichthyosis, ...	ORPHA:634
Antisynthetase Syndrome	Recurrent respiratory infections, Skin rash, Telangiectasia of the skin, Edema, Pruritus, Xerosto...	ORPHA:81
Harlequin Ichthyosis	Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis, Erythroderma	ORPHA:457
Epidermolytic Hyperkeratosis 1	Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital bullous...	OMIM:113800
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Abnormal elasticity of skin, Dry skin, Follicular hyperkeratosis	ORPHA:486815
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Swollen lip, Facial edema,...	ORPHA:100057
Peeling Skin Syndrome 3	Pruritus, Erythema, White scaling skin	OMIM:616265
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype...	ORPHA:2199
Sézary Syndrome	Edema, Pruritus, Palmoplantar keratoderma, Erythroderma, Dry skin	ORPHA:3162
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat...	ORPHA:2200
Ledderhose Disease	Lack of skin elasticity	ORPHA:199251
Lymphatic Malformation 4	Hyperkeratosis, Pedal edema, Lymphedema	OMIM:615907
Acute Interstitial Pneumonia	Nodular pattern on pulmonary HRCT, Crackles, Nonproductive cough, Tachypnea, Decreased DLCO, Peri...	ORPHA:79126
Costello Syndrome	Redundant skin, Polyhydramnios, Lack of skin elasticity, Hyperkeratosis, Acanthosis nigricans	ORPHA:3071
Erythrokeratodermia Variabilis Et Progressiva 2	Erythema, Palmoplantar keratoderma	OMIM:617524
Pemphigus Foliaceus	Psoriasiform dermatitis, Abnormal oral mucosa morphology, Acantholysis, Pruritus, Pustule, Erythe...	ORPHA:79481
Erythrokeratodermia Variabilis Et Progressiva 3	Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:617525
Chromomycosis	Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparakeratosis, Hyperkerato...	ORPHA:182
Sydenham Chorea	Movement abnormality of the tongue, Erythema, Recurrent streptococcus pneumoniae infections	ORPHA:306731
Darier Disease	Acrokeratosis, Pruritus, Thickened skin, Palmoplantar keratoderma, Skin vesicle, Subungual hyperk...	ORPHA:218
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Thickened skin, Palmoplantar keratoderma, Lack of skin elasticity	ORPHA:1979
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Thickened skin, Abn...	ORPHA:659
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Pili Torti-Onychodysplasia Syndrome	Dry skin, Generalized keratosis follicularis, Eczema, Palmoplantar keratoderma	ORPHA:2890
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta...	ORPHA:70589
Mastocytosis, Cutaneous	Urticaria, Erythema, Edema, Telangiectasia macularis eruptiva perstans	OMIM:154800
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm...	OMIM:267450
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Irida Syndrome	Hyperkeratosis, Pallor, Ichthyosis	ORPHA:209981
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Redundant skin, Gingival hyperkeratosis, Hyperextensible skin, Blepharochalasis, Soft, doughy ski...	OMIM:225410
Congenital Disorder Of Glycosylation, Type Im	Death in infancy, Inflammatory abnormality of the skin, Hyperkeratosis, Ichthyosis, Dry skin	OMIM:610768
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Death in early adulthood, Edema, Acantholysis, Palmoplantar hyperkeratosis, Death in adolescence,...	OMIM:605676
Cutaneous Small Vessel Vasculitis	Skin rash, Recurrent skin infections, Cutis marmorata, Erythema, Urticaria, Abnormal oral cavity ...	ORPHA:889
Palmoplantar Keratoderma, Epidermolytic, 1	Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm...	OMIM:144200
Familial Cold Autoinflammatory Syndrome 3	Recurrent sinopulmonary infections, Allergic rhinitis, Pruritus, Angioedema, Erythema, Asthma, De...	OMIM:614468
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Lichen Planopilaris	Pruritus, Hyperkeratosis, Skin ulcer	ORPHA:525
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Immunodeficiency 58	Recurrent respiratory infections, Recurrent cutaneous abscess formation, Psoriasiform lesion, All...	OMIM:618131
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Skin ulcer, Dehydration	ORPHA:33355
Jessner Lymphocytic Infiltration Of The Skin	Pruritus, Cutaneous photosensitivity, Erythema	ORPHA:33314
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Skin rash, Eczema, Abnormality of th...	ORPHA:2314
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Skin rash, Persistence of primary teeth, Erythema, Recurrent ...	OMIM:147060
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,...	ORPHA:2902
Hydroa Vacciniforme	Superficial dermal perivascular inflammatory infiltrate, Hydroa vacciniforme, Eczema, Telangiecta...	ORPHA:330058
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Chronic Mucocutaneous Candidiasis	Recurrent respiratory infections, Skin rash, Abnormal dental enamel morphology, Pruritus, Erythem...	ORPHA:1334
Primary Erythromelalgia	Pruritus, Recurrent respiratory infections, Erythema	ORPHA:90026
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper...	OMIM:620014
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis, Dry skin	ORPHA:1028
Iga Pemphigus	Neutrophilic infiltration of the skin, Acantholysis, Pustule, Pruritus, Skin vesicle, Cutaneous a...	ORPHA:555905
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:615225
Neonatal Lupus Erythematosus	Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash	ORPHA:398124
Vibratory Urticaria	Urticaria, Flushing, Facial erythema	OMIM:125630
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Epidermodysplasia Verruciformis, Susceptibility To, 4	Stomatitis, Emphysema, Facial erythema	OMIM:618307
Leopard Syndrome 3	Hyperkeratosis, Dry skin, Epidermal hyperkeratosis	OMIM:613707
Dermatofibrosarcoma Protuberans	Thickened skin, Erythema, Skin ulcer	ORPHA:31112
Diffuse Cutaneous Mastocytosis	Pruritus, Thickened skin, Wheezing, Darier's sign, Urticaria, Dermatographic urticaria, Scaling s...	ORPHA:79456
Prolidase Deficiency	Recurrent respiratory infections, Carious teeth, Pruritus, Erythema, Crusting erythematous dermat...	ORPHA:742
Ichthyosis, Hystrix-Like, With Deafness	Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, Cobblestone-...	OMIM:602540
Werner Syndrome	Miscarriage, Prematurely aged appearance, Telangiectasia of the skin, Pulmonary artery stenosis, ...	ORPHA:902
Cutaneous Photosensitivity And Colitis, Lethal	Early cutaneous photosensitivity, Death in infancy, Erythema	OMIM:219095
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Interstitial pn...	ORPHA:454831
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Perioral erythema, Ichthyosis	OMIM:248300
Meige Disease	Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio...	ORPHA:90186
Ichthyosis With Confetti	Pruritus, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital nonbullous ichthyos...	OMIM:609165
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode...	OMIM:606545
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker...	ORPHA:2897
Erythema Of Acral Regions	Erythema, Abnormality of the dentition	OMIM:227000
Erosive Pustular Dermatosis Of The Scalp	Pustule, Erythema	ORPHA:222
Quinquaud Folliculitis Decalvans	Pustule, Erythema, Recurrent skin infections	ORPHA:346
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin	OMIM:247100
Pressure-Induced Localized Lipoatrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema	ORPHA:90160
Inflammatory Skin And Bowel Disease, Neonatal, 2	Epidermal acanthosis, Polyhydramnios, Pustule, Recurrent pneumonia, Dehydration, Recurrent bronch...	OMIM:616069
Cole Disease	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:615522
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis	ORPHA:89843
Anonychia With Flexural Pigmentation	Dry skin	OMIM:106750
Ichthyosis, Congenital, Autosomal Recessive 9	Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ...	OMIM:615023
Maculopapular Cutaneous Mastocytosis	Pruritus, Dyspnea, Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of ...	ORPHA:79457
Phenylketonuria	Scleroderma, Dry skin, Eczema	OMIM:261600
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Pruritus, Plantar hyperkeratosis	OMIM:616487
Tooth Agenesis, Selective, 8	Dry skin	OMIM:617073
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Panniculitis-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Vasculitis i...	ORPHA:90159
Lupus Erythematosus Tumidus	Cutaneous photosensitivity, Deep dermal perivascular inflammatory infiltrate, Scaling skin	ORPHA:90283
Cutaneous Collagenous Vasculopathy	Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis...	ORPHA:280779
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Acantholysis, Facial edema, Pruritus, Pustule, Eosi...	ORPHA:293173
Angioma Serpiginosum	Erythema, Vascular skin abnormality	ORPHA:95429
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Hyperextensible skin, Dermal translucency	OMIM:619120
Ichthyosis, Congenital, Autosomal Recessive 2	Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythro...	OMIM:242100
Erythema Nodosum, Familial	Erythema nodosum, Erythema	OMIM:132990
Meconium Aspiration Syndrome	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia...	ORPHA:70588
Transgrediens Et Progrediens Palmoplantar Keratoderma	Recurrent bacterial skin infections, Plantar hyperkeratosis, Angular cheilitis, Thickened skin, D...	ORPHA:495
Dowling-Degos Disease	Pruritus, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Acne inversa	ORPHA:79145
Ichthyosis Prematurity Syndrome	Polyhydramnios, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma	OMIM:608649
Polyarteritis Nodosa	Cutis marmorata, Abnormal lung morphology, Erythema, Skin ulcer, Pleuritis	ORPHA:767
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod...	OMIM:148700
Amyloidosis, Primary Localized Cutaneous, 1	Pruritus, Dry skin, Scaling skin	OMIM:105250
Macs Syndrome	Irregular dentition, Palpebral edema, Redundant skin, Bronchiectasis, Gingival overgrowth, Cutis ...	OMIM:613075
Aicardi-Goutieres Syndrome 5	Chilblains, Dry skin, Scaling skin	OMIM:612952
Orthostatic Hypotensive Disorder, Streeten Type	Bruising susceptibility, Facial erythema	OMIM:143850
Stiff Skin Syndrome	Thickened skin, Lack of skin elasticity	ORPHA:2833
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Crusting erythematous dermatitis, Palmoplantar hyperkeratosis, Telangiectasia, Thin ski...	ORPHA:158673
Leri Pleonosteosis	Thickened skin, Lack of skin elasticity	ORPHA:2900
Moynahan Syndrome	Hyperkeratosis	ORPHA:2574
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi...	ORPHA:70587
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Dowling-Degos Disease 4	Pruritus, Epidermal acanthosis, Hypergranulosis	OMIM:615696
Cutis Laxa, Autosomal Recessive, Type Iib	Prominent superficial veins, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Hi...	OMIM:612940
Grubben-De Cock-Borghgraef Syndrome	Dry skin, Eczema	ORPHA:2101
Pruritic Urticarial Papules And Plaques Of Pregnancy	Striae distensae	OMIM:178995
Striae Distensae, Familial	Striae distensae	OMIM:185200
Glutamine Deficiency, Congenital	Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Erythema, Thin vermilion ...	OMIM:610015
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Palmoplantar Keratoderma And Congenital Alopecia 1	Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis	OMIM:104100
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Bare Lymphocyte Syndrome, Type I	Nasal polyposis, Bronchiectasis, Skin ulcer, Bronchiolitis, Emphysema, Chronic sinusitis, Recurre...	OMIM:604571
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Cutaneous photosensitivity, V...	ORPHA:163525
Darier-White Disease	Pruritus, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis	OMIM:124200
Thyrotropin-Releasing Hormone Deficiency	Dry skin	OMIM:275120
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Polyhydramnios, Atelectasis, High palate, Neonatal death	OMIM:300219
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Neu-Laxova Syndrome	Abnormality of the philtrum, Polyhydramnios, Submucous cleft hard palate, Lack of skin elasticity...	ORPHA:2671
Night Blindness, Congenital Stationary, Type 1C	Dry skin	OMIM:613216
Chronic Hiccup	Dehydration, Abnormal eating behavior	ORPHA:396
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Classic Phenylketonuria	Eczema, Lack of skin elasticity	ORPHA:79254
Familial Cold Urticaria	Pruritus, Urticaria, Erythema, Dehydration	ORPHA:47045
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Hyperextensible skin, Dermal translucency	OMIM:619115
Gaucher Disease, Perinatal Lethal	Respiratory distress, Everted upper lip vermilion, Apnea, Nonimmune hydrops fetalis, Polyhydramni...	OMIM:608013
Craniosynostosis-Mental Retardation-Clefting Syndrome	Dry skin	OMIM:218650
Autoinflammation With Arthritis And Dyskeratosis	Dry skin, Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617388
Uv-Sensitive Syndrome 3	Dry skin	OMIM:614640
Keratolytic Winter Erythema	Pustule, Erythema	ORPHA:50943
Ectodermal Dysplasia/Skin Fragility Syndrome	Ectodermal dysplasia, Fragile skin, Scaling skin, Palmoplantar hyperkeratosis	OMIM:604536
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Acantholysis	ORPHA:704
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Dermal translucency	ORPHA:529965
Keratolytic Winter Erythema	Erythema	OMIM:148370
Noonan Syndrome 8	Eczema, Polyhydramnios, Hyperkeratosis, Hyperextensible skin, Palmoplantar cutis laxa, Pleural ef...	OMIM:615355
Pierpont Syndrome	Smooth philtrum, Thin upper lip vermilion, Abnormal subcutaneous fat tissue distribution, Thin ve...	ORPHA:487825
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Recurrent skin infections, Abnormality of the dentition,...	ORPHA:158668
Congenital Disorder Of Glycosylation, Type Iil	Peau d'orange, Hyperkeratosis, Dry skin, Death in infancy	OMIM:614576
Ataxia-Photosensitivity-Short Stature Syndrome	Dry skin	ORPHA:1184
Ichthyosis, Congenital, Autosomal Recessive 7	Ichthyosis, Palmoplantar keratoderma, Hypergranulosis, Erythroderma	OMIM:615022
Acrokeratoelastoidosis Of Costa	Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis	ORPHA:38
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Dehydration, Decreased circulating carnitine co...	ORPHA:79159
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Soft, doughy skin, Hyperextensible skin, Oligohydramnios, Dermal translucency	ORPHA:541423
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema, Skin ulcer, Fragile skin	ORPHA:542592
Keratoderma Hereditarium Mutilans	Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, Ichthyosis	ORPHA:494
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma	OMIM:613576
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Stillbirth, Ortho...	OMIM:308050
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Uv-Sensitive Syndrome 1	Dry skin	OMIM:600630
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Erythema	ORPHA:36237
Dermoodontodysplasia	Dry skin	OMIM:125640
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Hyperextensible skin, Follicular hyperkeratosis	ORPHA:300179
Recon Progeroid Syndrome	Dental crowding, Progeroid facial appearance, Livedo reticularis, Cutaneous photosensitivity, Thi...	OMIM:620370
Pilarowski-Bjornsson Syndrome	Dermal translucency	OMIM:617682
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Drug-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Erythema	ORPHA:90157
Lipoid Proteinosis	Recurrent respiratory infections, Nasal polyposis, Acne, Abnormal oral mucosa morphology, Pustule...	ORPHA:530
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Erythema, Abnormality of primary t...	OMIM:257980
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis, Tented upper lip vermilion, Acrocyanosis	ORPHA:896
Rothmund-Thomson Syndrome, Type 1	Hyperkeratosis	OMIM:618625
Centrifugal Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lack of facial subcuta...	ORPHA:90156
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Chronic oral candidiasis, Psoriasiform dermatitis, Eczema, Pulm...	OMIM:606367
Keratosis Pilaris Atrophicans	Erythema	OMIM:604093
Pseudoxanthoma Elasticum	Acne, Skin rash, Telangiectasia of the skin, Pruritus, Lack of skin elasticity, Excessive wrinkle...	ORPHA:758
Hypohidrotic Ectodermal Dysplasia	Hyperkeratosis, Dry skin, Xerostomia, Eczema	ORPHA:238468
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
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Dry skin, Scaling skin, Palmoplantar keratoderma	OMIM:618373
Flynn-Aird Syndrome	Hyperkeratosis	OMIM:136300
Dermatitis Herpetiformis	Eczema, Edema, Pruritus, Erythema, Urticaria, Skin vesicle	ORPHA:1656
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Telangiectasia of the skin, Dental crowding, Lack of skin elasticity, Narrow mouth	OMIM:615381
X-Linked Dominant Chondrodysplasia Punctata	Abnormal lung morphology, Erythroderma, High palate, Scaling skin, Ichthyosis	ORPHA:35173
Diabetes Mellitus, Transient Neonatal, 1	Intrauterine growth retardation, Dehydration	OMIM:601410
Cutis Laxa, Autosomal Dominant 3	Premature skin wrinkling, Cutis laxa, Dermal translucency	OMIM:616603
Milroy Disease	Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas	ORPHA:79452
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion	OMIM:616298
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea	ORPHA:254361
Bronchogenic Cyst	Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog...	ORPHA:2357
Peeling Skin Syndrome 1	Pruritus, Asthma, Scaling skin, Erythroderma	OMIM:270300
Autosomal Erythropoietic Protoporphyria	Eczema, Edema, Pruritus, Erythema, Cutaneous photosensitivity	ORPHA:79278
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Urticaria, Everted lower lip vermilion, Abnormal dental morphology, Palmoplantar keratoderma	ORPHA:2251
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Erythroderma, ...	OMIM:615508
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Redundant skin, Progeroid facial appearance, Periorbital edema, Atelectasis, Re...	OMIM:613177
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Death in infancy, Dehydration	OMIM:251850
Granulomatous Slack Skin	Erythema, Redundant skin, Cutis laxa	ORPHA:33111
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Eczema, Premature loss of primary teeth, Abnormality of the dentition...	ORPHA:2907
8Q22.1 Microdeletion Syndrome	Long philtrum, Submucous cleft hard palate, Lack of skin elasticity, Abnormality of the dentition	ORPHA:178303
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Ehlers-Danlos Syndrome, Classic Type, 2	Hyperextensible skin, Recurrent sinusitis, Soft, doughy skin, Bruising susceptibility, Fragile sk...	OMIM:130010
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Soft skin, Hyperextensible skin, Cutis laxa, Dermal translucency	OMIM:615349
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Chronic mucocutaneous candidiasis...	OMIM:618282
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Carious teeth, Recurrent pneumonia, Dehydration, Death in childhood, T...	OMIM:214150
Mycosis Fungoides	Pruritus, Erythema, Eczema, Psoriasiform dermatitis	OMIM:254400
Mpdu1-Cdg	Thin vermilion border, Eczema, Scaling skin, Ichthyosis	ORPHA:79323
Adult-Onset Still Disease	Skin rash, Pruritus, Recurrent pharyngitis, Erythema, Joint swelling, Restrictive ventilatory def...	ORPHA:829
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Enanthema, Dyspnea, Angioedema, Erythema, Pustule, Erythroderma, Pulmonary infiltrates...	ORPHA:139402
Tempi Syndrome	Transudative pleural effusion, Facial erythema, Hypoxemia, Telangiectasia, Abnormality of the pul...	ORPHA:284227
Omenn Syndrome	Edema, Pruritus, Thickened skin, Erythroderma, Dry skin	ORPHA:39041
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Skin rash, Cutis marmorata, Pustule, Erythema, Tachypnea, Lived...	OMIM:615934
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Dry skin, Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkerat...	ORPHA:69087
Trichothiodystrophy 1, Photosensitive	Death in infancy, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma,...	OMIM:601675
Ehlers-Danlos Syndrome, Hypermobility Type	Soft skin, Hyperextensible skin, Striae distensae	OMIM:130020
Fountain Syndrome	Cutis marmorata, Facial edema, Thick lower lip vermilion, Erythema, Gingival overgrowth, Wide mou...	ORPHA:3219
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Whe...	OMIM:620233
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Acanthosis nigricans, Dry skin	ORPHA:3085
Graft Versus Host Disease	Inflammatory abnormality of the skin, Maculopapular exanthema, Pneumonia, Jaundice, Oral ulcer, P...	ORPHA:39812
Protoporphyria, Erythropoietic, 1	Pruritus, Erythema, Eczema, Edema	OMIM:177000
Limited Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Skin ulcer, Pulmonary fibrosis, Pulmonary arterial hypertension, Muco...	ORPHA:220402
Growth Delay Due To Insulin-Like Growth Factor I Resistance	Intrauterine growth retardation, Thin vermilion border, Everted lower lip vermilion, Smooth philtrum	ORPHA:73273
Snakebite Envenomation	Epistaxis, Edema, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Gingival blee...	ORPHA:449285
Cutis Laxa, Autosomal Recessive, Type Iiib	Excessive wrinkled skin, Cutis laxa, Dermal translucency	OMIM:614438
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Dehydration, Dystonia	ORPHA:289504
Cleft Palate-Lateral Synechia Syndrome	Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth	ORPHA:2016
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Eryth...	ORPHA:420741
Riddle Syndrome	Dry skin	OMIM:611943
Nicolaides-Baraitser Syndrome	Eczema, High, narrow palate, Wide mouth, Excessive wrinkled skin, Thin vermilion border, Everted ...	ORPHA:3051
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Pneumonia, Pruritus, Thickened skin, Erythema, Thick lower lip vermil...	ORPHA:2135
Trichothiodystrophy 6, Nonphotosensitive	Dry skin, Ichthyosis	OMIM:616943
Kanzaki Disease	Hyperkeratosis, Dry skin, Petechiae, Lymphedema	OMIM:609242
Man1B1-Cdg	Thin upper lip vermilion, Cutis laxa, Thick vermilion border, Short philtrum, Eclabion, Smooth ph...	ORPHA:397941
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Dermal translucency, Soft, doughy skin, Repeated pneumothoraces, Carious te...	ORPHA:536467
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Rhizomelic Chondrodysplasia Punctata	Dry skin, Ichthyosis	ORPHA:177
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ...	ORPHA:217390
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Autosomal Recessive Cutis Laxa Type 1	Redundant skin, Pneumothorax, Recurrent pneumonia, Lack of skin elasticity, Respiratory insuffici...	ORPHA:90349
Baralle-Macken Syndrome	Acanthosis nigricans, Striae distensae	OMIM:619255
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Skin rash, Recurrent skin infections, Bronchiectasis...	ORPHA:33110
Renal Hypodysplasia/Aplasia 2	Redundant skin, Pulmonary hypoplasia	OMIM:615721
Proteus Syndrome	Hyperkeratosis	OMIM:176920
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Striae distensae, Hyperextensible skin, Thin skin, Bruising susceptibility, Petechiae	OMIM:225310
Bullous Pemphigoid	Urticaria, Erythema, Eczema, Psoriasiform dermatitis	ORPHA:703
14Q11.2 Microdeletion Syndrome	Exaggerated cupid's bow, Deep philtrum, Everted lower lip vermilion, High palate, Narrow mouth, L...	ORPHA:261120
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess	OMIM:619986
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova...	ORPHA:244
Diarrhea 4, Malabsorptive, Congenital	Dehydration	OMIM:610370
Complex Regional Pain Syndrome	Edema of the upper limbs, Erythema, Dry skin, Pedal edema	ORPHA:83452
Bone Marrow Failure Syndrome 4	Dry skin, Eczema	OMIM:618116
Hypotrichosis And Recurrent Skin Vesicles	Skin vesicle, Follicular hyperkeratosis	OMIM:613102
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal respiratory distress, Redundant neck skin, Nonimmune hydrops fetalis, Pulmonary arterial...	OMIM:619003
Pemphigus Erythematosus	Malar rash, Acantholysis	ORPHA:79480
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Lujo Hemorrhagic Fever	Respiratory distress, Generalized edema, Maculopapular exanthema, Skin rash, Crackles, Facial ede...	ORPHA:319213
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion,...	OMIM:616898
Rheumatic Fever	Sinusitis, Epistaxis, Abnormal pleura morphology, Recurrent pharyngitis, Erythema, Respiratory in...	ORPHA:3099
Combined Oxidative Phosphorylation Deficiency 47	Intrauterine growth retardation, Dehydration, Dysphagia	OMIM:618958
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Lymphedema	ORPHA:79279
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Cutis laxa	OMIM:614100
Restrictive Dermopathy 1	Natal tooth, Prominent superficial blood vessels, Polyhydramnios, Epidermal hyperkeratosis, Submu...	OMIM:275210
Juvenile Dermatomyositis	Palpebral edema, Skin rash, Telangiectasia of the skin, Pruritus, Dyspnea, Erythema, Skin ulcer, ...	ORPHA:93672
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Skin rash, Pneumonia, Edema, Recurrent skin infections, Respirat...	ORPHA:36234
Combined Malonic And Methylmalonic Aciduria	Dehydration	OMIM:614265
Atelis Syndrome 1	Dry skin, Eczema	OMIM:620184
Mandibuloacral Dysplasia With Type A Lipodystrophy	Prematurely aged appearance, Progeroid facial appearance, Abnormality of the dentition, Lack of s...	ORPHA:90153
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Bronchiolitis, Recurrent sinopulmonary infections, Interstitial pneumonitis, Erythema	OMIM:614878
Cofs Syndrome	Intrauterine growth retardation, Cutaneous photosensitivity, Everted lower lip vermilion, Death i...	ORPHA:1466
Central Diabetes Insipidus	Hyponatremia, Polydipsia, Dehydration, Anorexia	ORPHA:178029
Dracunculiasis	Pruritus, Recurrent cutaneous abscess formation, Skin rash, Skin ulcer	ORPHA:231
Ichthyosis, Congenital, Autosomal Recessive 11	Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma	OMIM:602400
Chand Syndrome	Atelectasis, Bifid tongue, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morp...	ORPHA:1401
Fixed Drug Eruption	Erythema, Crusting erythematous dermatitis, Oral ulcer, Stomatitis, Generalized abnormality of skin	ORPHA:293812
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Ramon Syndrome	Hyperkeratosis	ORPHA:3019
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Chilblain Lupus 1	Chilblains, Skin ulcer	OMIM:610448
Cdkl5-Deficiency Disorder	Deep philtrum, Everted lower lip vermilion, Thick vermilion border, Abnormal respiratory system p...	ORPHA:505652
Spinocerebellar Ataxia Type 34	Dry skin	ORPHA:1955
Rosaï-Dorfman Disease	Erythema	ORPHA:158014
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Dry skin	OMIM:600906
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Plantar hyperkeratosis, Hyperkeratotic papule, Palmar hyperkeratosis	ORPHA:79397
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Dry skin	ORPHA:248
Restrictive Dermopathy	Polyhydramnios, Epidermal hyperkeratosis, Scaling skin, Generalized hyperkeratosis, Dermal transl...	ORPHA:1662
Attenuated Chédiak-Higashi Syndrome	Recurrent respiratory infections, Epistaxis, Skin ulcer, Gingival bleeding, Bruising susceptibility	ORPHA:352723
Cutis Laxa-Marfanoid Syndrome	Emphysema, Redundant skin	ORPHA:171719
Arthrogryposis And Ectodermal Dysplasia	Hyperkeratosis, Dry skin	OMIM:601701
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis	ORPHA:1573
Juvenile Hyaline Fibromatosis	Death in infancy, Gingival fibromatosis, Skin ulcer, Gingival overgrowth	ORPHA:2028
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, High palate, Eczema...	OMIM:259100
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Edema, Lymphedema, Thickened skin, Skin ulcer, Thick vermilion border, Chylothorax, Scaling skin,...	ORPHA:2526
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Hyperammonemia, Dehydration, Choreoathetosis, Dystonia	ORPHA:79312
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Psoriasiform lesion, Recurrent upper respiratory tract infections, Oral ulcer, Erythroderma, Recu...	ORPHA:169154
Hypothyroidism, Congenital, Nongoitrous, 6	Dry skin	OMIM:614450
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Facial erythema, Folliculitis, Palmoplantar keratoderma, Enamel hypoplasia	OMIM:612843
Transient Neonatal Diabetes Mellitus	Macroglossia, Intrauterine growth retardation, Dehydration	ORPHA:99886
Intellectual Developmental Disorder, X-Linked 19	Thick lower lip vermilion, Dental crowding, Everted lower lip vermilion	OMIM:300844
Isolated Agammaglobulinemia	Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn...	ORPHA:229717
Warty Dyskeratoma	Acrokeratosis, Epidermal thickening, Acantholysis	ORPHA:69745
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Increased circulating corticosterone level, Hyperkalemia, Dehydration, Increased ci...	OMIM:610600
Elastoderma	Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa	ORPHA:228240
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Acanthosis nigricans, Dry skin	OMIM:268020
Cardiofaciocutaneous Syndrome	Redundant skin, Lymphedema, Excessive wrinkled skin, Hyperkeratosis, Hyperextensible skin, Palmop...	ORPHA:1340
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Everted upper lip vermilion, Conical tooth, Oligodontia, Thick vermilion border, Periorbital wrin...	OMIM:224900
Acrogeria	Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Excessive wrinkled skin, Thi...	ORPHA:2500
Warburg-Cinotti Syndrome	Dental crowding, Poor wound healing, Erythema, Pneumothorax, Gingival overgrowth, Joint swelling,...	OMIM:618175
Epidermolysis Bullosa, Lethal Acantholytic	Neonatal death, Acantholysis	OMIM:609638
Intellectual Developmental Disorder, Autosomal Dominant 62	Striae distensae	OMIM:618793
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Dry skin	OMIM:129490
Maxillonasal Dysplasia	Open bite, Cleft palate, Tooth agenesis, Microdontia, Striae distensae	ORPHA:1248
Free Sialic Acid Storage Disease	Recurrent respiratory infections, Ascites, Hydrops fetalis, Skin ulcer	ORPHA:834
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Recurrent skin infections, Recurrent pneumonia, Pyoderma gang...	OMIM:616576
Short-Rib Thoracic Dysplasia 12	Natal tooth, Median cleft lip, Polyhydramnios, Edema, Hamartoma of tongue, Atelectasis, Respirato...	OMIM:269860
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Recurrent respiratory infections, Conical tooth, Xerostomia, Ectodermal dysplasia, Rhinitis, Ever...	OMIM:614941
Mitral Valve Prolapse 1	High, narrow palate, High palate, Striae distensae	OMIM:157700
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Pneumonia, Absent outer dynein arms, Atelectasis, Bronchiectasis, Immotile cilia...	OMIM:244400
Hypothyroidism, Congenital, Nongoitrous, 4	Dry skin	OMIM:275100
Autosomal Dominant Prognathism	Open bite, Everted lower lip vermilion	ORPHA:2964
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:281090
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Death in infancy, Subungual hyperkeratosis, Perianal erythema, Eczema, R...	OMIM:308205
Pierpont Syndrome	Smooth philtrum, Prominent median palatal raphe, Thin vermilion border, Widely spaced teeth, Ever...	OMIM:602342
Immunodeficiency 23	Recurrent respiratory infections, Allergic rhinitis, Eczema, Asthma, Erythema, Bronchiectasis, Ch...	OMIM:615816
Dermatomyositis	Recurrent respiratory infections, Telangiectasia of the skin, Edema, Periorbital edema, Pruritus,...	ORPHA:221
Atypical Werner Syndrome	Prominent superficial veins, Prematurely aged appearance, Telangiectasia of the skin, Progeroid f...	ORPHA:79474
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Pulmonary embolism, Skin ulcer, Thin skin, Subcutaneous hemorrhage, Purpura	ORPHA:743
Loeys-Dietz Syndrome 4	Broad uvula, High, narrow palate, Pneumothorax, Hyperextensible skin, High palate, Emphysema, Bru...	OMIM:614816
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Persistence of primary teeth, Thick lower lip vermilion, Overjet, High palate, S...	OMIM:618342
De Barsy Syndrome	Excessive wrinkled skin, Cutis laxa, Dermal translucency	ORPHA:2962
Vitamin B12-Responsive Methylmalonic Acidemia	Hyperammonemia, Dehydration	ORPHA:28
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hyperparakeratosis, Seborrheic dermatitis	ORPHA:276280
Prolidase Deficiency	Petechiae, Eczema, Asthma, Recurrent pneumonia, Crusting erythematous dermatitis, Diffuse telangi...	OMIM:170100
Fibromuscular Dysplasia, Multifocal	Soft skin, Hyperextensible skin, Soft, doughy skin, Striae distensae, Dermal translucency	OMIM:619329
Hatipoglu Immunodeficiency Syndrome	Eczema, Thickened skin, Atopic dermatitis, Dry skin, Petechiae	OMIM:620331
Pituitary Adenoma 4, Acth-Secreting	Edema, Poor wound healing, Facial erythema, Thin skin, Ecchymosis, Bruising susceptibility, Stria...	OMIM:219090
Microcephalic Primordial Dwarfism, Montreal Type	Dry skin	ORPHA:2617
Dermoodontodysplasia	Dry skin	ORPHA:1660
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa	OMIM:617337
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Wide mouth, Thin upper lip vermilion, Everted lower lip vermilion, Short philtrum	ORPHA:2429
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Acanthosis nigricans, Dry skin	OMIM:262190
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Oligodontia, Everted lower lip vermilion, Anodontia	ORPHA:276630
Xeroderma Pigmentosum Variant	Dry skin	ORPHA:90342
Neonatal Inflammatory Skin And Bowel Disease	Chapped lip, Recurrent bacterial skin infections, Psoriasiform dermatitis, Pustule, Erythema, Sca...	ORPHA:294023
Congenital Heart Defects And Ectodermal Dysplasia	Dry skin	OMIM:617364
Hidrotic Ectodermal Dysplasia	Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	ORPHA:189
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Prematurely aged appearance, Redundant skin, Cutis laxa, Too...	ORPHA:2963
Acrodermatitis Enteropathica	Pustule, Erythema, Abnormality of the tongue, Skin ulcer, Furrowed tongue, Cheilitis, Dry skin, G...	ORPHA:37
Farber Disease	Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory...	ORPHA:333
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct...	ORPHA:79127
De Sanctis-Cacchione Syndrome	Parakeratosis	OMIM:278800
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Facial erythema, Palmoplantar keratoderma, Scaling skin, Dry skin, Sclerodactyly	ORPHA:1010
Ectodermal Dysplasia-Blindness Syndrome	Hyperkeratosis, Skin ulcer	ORPHA:1806
Oculocerebrorenal Syndrome Of Lowe	Dental crowding, Deep philtrum, Dehydration, Gingivitis, Periodontitis, Death in infancy, Abnorma...	ORPHA:534
Toxic Epidermal Necrolysis	Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Acantholysis,...	ORPHA:537
Thyroid Dyshormonogenesis 1	Dry skin	OMIM:274400
Interstitial Granulomatous Dermatitis With Arthritis	Pruritus, Inflammatory abnormality of the skin, Erythema	ORPHA:79099
Developmental And Epileptic Encephalopathy 23	Thick vermilion border, Everted lower lip vermilion, Short philtrum	OMIM:615859
Beta-Mercaptolactate Cysteine Disulfiduria	Dry skin	ORPHA:1035
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Dermal translucency	OMIM:618343
Kcnq2-Related Epileptic Encephalopathy	Apnea, Pallor, Cerebral edema, Facial erythema	ORPHA:439218
Ectodermal Dysplasia/Short Stature Syndrome	Hyperkeratosis, Palmoplantar keratoderma	OMIM:616029
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed...	ORPHA:103910
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Polyhydramnios, Dermal translucency	OMIM:617506
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Reynolds Syndrome	Skin rash, Telangiectasia of the skin, Pruritus, Jaundice, Xerostomia, Respiratory insufficiency,...	ORPHA:779
Familial Melanoma	Dry skin	ORPHA:618
Tooth Agenesis, Selective, 4	Dry skin, Palmar hyperkeratosis	OMIM:150400
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level	OMIM:620125
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Carious teeth, Dyspnea, Xerostomia, Skin ulcer, Pulmonary infiltrates...	ORPHA:220393
Lymphangioleiomyomatosis	Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, Pneumothorax, Chylopericardiu...	ORPHA:538
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hyperkeratosis	ORPHA:1883
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Dry skin, Eczema	OMIM:620191
Immunoglobulin A Vasculitis	Skin rash, Edema, Pustule, Angioedema, Erythema, Skin ulcer, Urticaria, Restrictive ventilatory d...	ORPHA:761
Proliferating Trichilemmal Cyst	Skin ulcer	ORPHA:492
Monilethrix	Follicular hyperkeratosis	ORPHA:573
Trichothiodystrophy 3, Photosensitive	Natal tooth, Carious teeth, Congenital ichthyosiform erythroderma, Congenital nonbullous ichthyos...	OMIM:616395
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Dehydration, Elevated seru...	ORPHA:556030
Adiposis Dolorosa	Recurrent skin infections, Dry skin, Xerostomia	ORPHA:36397
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Epidermal acanthosis, Skin rash, Pustule, Joint swelling, Hyperkeratosis, P...	OMIM:612852
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent respiratory infections, Psoriasiform lesion, Pneumonia, Erythema nodosum, Asthma, Recur...	OMIM:614700
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Skin vesicle, Pruritus, Hyperkeratotic papule, Palmoplantar keratoderma	ORPHA:79410
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Dehydration	OMIM:264350
Ichthyosis, Congenital, Autosomal Recessive 4B	Neonatal death, Death in infancy, Congenital ichthyosiform erythroderma, Everted lower lip vermilion	OMIM:242500
Barber-Say Syndrome	Premature skin wrinkling, Dry skin, Redundant skin, Dermal translucency	OMIM:209885
Immunodeficiency 55	Dry skin, Recurrent skin infections, Eczema, Ichthyosis	OMIM:617827
Familial Cervical Artery Dissection	Thin skin, Striae distensae	ORPHA:36382
Peroxisome Biogenesis Disorder 14B	Dry skin	OMIM:614920
Trichodysplasia-Xeroderma Syndrome	Dry skin	ORPHA:3361
Cholera	Miscarriage, Tachypnea, Dehydration, Aspiration pneumonia, Palmoplantar cutis laxa, Hyperventilation	ORPHA:173
Geleophysic Dysplasia 1	Thickened skin, Lack of skin elasticity, Wide mouth, Long philtrum, Smooth philtrum	OMIM:231050
Developmental And Epileptic Encephalopathy 88	Everted lower lip vermilion	OMIM:618959
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Protruding tongue, Atelectasis, Open mouth, Respiratory insufficiency, Pulmonary...	ORPHA:258
Ameloonychohypohidrotic Syndrome	Dry skin, Seborrheic dermatitis	OMIM:104570
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Edema, Carious teeth, Recurrent bronchopulmonary infections, R...	OMIM:604173
Non-Distal Duplication 10Q	Everted lower lip vermilion, High palate	ORPHA:1695
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Reduced subcutaneous adipose tissue, Recurrent respiratory infections, Thin upper lip vermilion, ...	ORPHA:3041
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Ddost-Cdg	Dry skin	ORPHA:300536
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi...	OMIM:618729
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Abnormal lung morphology, Recurrent ...	ORPHA:47
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Chime Syndrome	Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Erythema, Skin ulc...	ORPHA:3474
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Pyoderma gangrenosum, Bronchiectasis, Recurrent aphthous stomatitis, Chronic...	OMIM:150550
Linear Verrucous Nevus Syndrome	Hyperkeratosis	ORPHA:2611
Cutis Laxa, Autosomal Recessive, Type Ib	Soft skin, Oligohydramnios, Cutis laxa, Dermal translucency	OMIM:614437
Stevens-Johnson Syndrome	Recurrent respiratory infections, Abnormal pleura morphology, Acantholysis, Dyspnea, Erythema, Re...	ORPHA:36426
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Gingival overgrowth, Furrowed tongue, Hyperkeratosis, Pulmonary...	ORPHA:1839
Sunct Syndrome	Palpebral edema, Facial edema, Facial erythema, Flushing, Rhinorrhea	ORPHA:57145
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis	OMIM:615279
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Generalized Pseudohypoaldosteronism Type 1	Pustule, Wheezing, Atopic dermatitis, Dehydration, Cough, Recurrent upper and lower respiratory t...	ORPHA:171876
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Perianal erythema, Perioral erythema, Erythroderma	OMIM:614328
Leopard Syndrome 2	Dry skin	OMIM:611554
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Dermal translucency	OMIM:612199
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level	OMIM:177735
Noonan Syndrome 5	Dry skin, Polyhydramnios	OMIM:611553
Weill-Marchesani Syndrome 2	Thickened skin, Lack of skin elasticity, Narrow palate, High palate, Tooth malposition, Striae di...	OMIM:608328
Buerger Disease	Acrocyanosis, Skin ulcer	ORPHA:36258
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Wide mouth, Thin upper lip vermilion, Everted lower lip vermilion, Long philtrum	OMIM:619595
Cataract-Intellectual Disability-Hypogonadism Syndrome	Prematurely aged appearance, Furrowed tongue, Everted lower lip vermilion, High palate, Short phi...	ORPHA:1387
Corneodermatoosseous Syndrome	Abnormal dental enamel morphology, Carious teeth, Thickened skin, Erythema, Gingivitis, Palmoplan...	ORPHA:3194
Neutrophilic Dermatosis, Acute Febrile	Cystic acne, Erythema, Pyoderma gangrenosum, Acne inversa	OMIM:608068
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Increased number of skin folds, Redundant skin, Cutis laxa	ORPHA:436274
Vitamin B12-Unresponsive Methylmalonic Acidemia	Choreoathetosis, Hyperammonemia, Dehydration	ORPHA:27
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Propionic Acidemia	Eczema, Hyperammonemia, Dehydration, Hyperglycinemia, Dystonia	OMIM:606054
Autosomal Dominant Cutis Laxa	Redundant neck skin, Redundant skin, Cutis laxa, Increased number of skin folds, Hyperextensible ...	ORPHA:90348
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat...	ORPHA:83617
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Dehydration	OMIM:602199
Uremic Pruritus	Pruritus, Inflammatory abnormality of the skin, Dry skin, Recurrent skin infections	ORPHA:94059
Autosomal Dominant Severe Congenital Neutropenia	Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Pyoderma gangrenosum, O...	ORPHA:486
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect...	ORPHA:60033
Fusariosis	Lung abscess, Sinusitis, Pneumonia, Maculopapular exanthema, Productive cough, Ground-glass opaci...	ORPHA:228119
Xeroderma Pigmentosum, Complementation Group F	Cutaneous photosensitivity, Erythema	OMIM:278760
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ...	OMIM:615726
Agel Amyloidosis	Edema, Pruritus, Xerostomia, Cutis laxa, Blepharochalasis, Dry skin	ORPHA:85448
Bachmann-Bupp Syndrome	Dry skin, Polyhydramnios	OMIM:619075
Refsum Disease	Dry skin, Ichthyosis	ORPHA:773
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis, Death in infancy	ORPHA:163966
Angioedema, Hereditary, 1	Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema, Erythema	OMIM:106100
Granulomatosis With Polyangiitis	Sinusitis, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Skin ulcer, Respiratory i...	OMIM:608710
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Urticaria, Recurrent aphthous stomatitis, Acrocyanosis, Purpura	ORPHA:343
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Skin ra...	ORPHA:464
Radio-Tartaglia Syndrome	Thin upper lip vermilion, Dental crowding, High, narrow palate, Wide mouth, High palate, Short ph...	OMIM:619312
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Wide mouth, Macroglossia, Thick lower lip vermilion, Striae distensae	OMIM:300354
Secondary Short Bowel Syndrome	Low plasma citrulline, Abnormal blood ion concentration, Dehydration, Steatorrhea, Polyphagia	ORPHA:95427
Relapsing Polychondritis	Atelectasis, Dyspnea, Erythema, Recurrent aphthous stomatitis, Cough, Abnormal pattern of respira...	ORPHA:728
Microscopic Polyangiitis	Sinusitis, Skin rash, Epistaxis, Cutis marmorata, Erythema, Skin ulcer, Subcutaneous hemorrhage	ORPHA:727
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Discoid lupus rash, Atelectasis, Recurrent pneumonia, Air br...	OMIM:306400
Beta-Ketothiolase Deficiency	Anorexia, Edema, Dehydration, Hyperammonemia, Agitation, Pallor, Hyperuricemia, Oral aversion	ORPHA:134
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Death in infancy, Oligohydramnios, Dehydration, Ichthyosis	OMIM:208085
Methylmalonyl-Coa Epimerase Deficiency	Elevated circulating palmitoleylcarnitine concentration, Dehydration, Hyperhomocystinemia	OMIM:251120
Porphyria Cutanea Tarda	Recurrent bacterial skin infections, Poor wound healing, Scaling skin, Cutaneous photosensitivity...	ORPHA:101330
Hidrotic Ectodermal Dysplasia, Halal Type	Follicular hyperkeratosis	ORPHA:1809
Subcorneal Pustular Dermatosis	Pruritus, Erythema, Pustule	ORPHA:48377
Sarcoidosis, Susceptibility To, 2	Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morpholo...	OMIM:612387
Focal Dermal Hypoplasia	Abnormal dental morphology, Abnormal dental enamel morphology, Telangiectasia of the skin, Abnorm...	ORPHA:2092
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Everted upper lip vermilion, Abnormal oral mucosa morphology, Eczema, Conic...	OMIM:305100
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Acral ulceration, Skin ulcer	ORPHA:139578
Aarskog-Scott Syndrome	Delayed eruption of teeth, Cleft upper lip, Abnormality of the dentition, Cleft palate, Orofacial...	ORPHA:915
Xeroderma Pigmentosum	Conjunctival telangiectasia, Telangiectasia of the skin, Abnormality of the dentition, Thickened ...	ORPHA:910
Naxos Disease	Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm...	OMIM:601214
Carnitine Deficiency, Systemic Primary	Hyperammonemia, Elevated circulating creatine kinase concentration, Dehydration	OMIM:212140
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Dry skin	OMIM:300860
Distal Duplication 6P	Dry skin	ORPHA:1745
Chronic Graft Versus Host Disease	Poor wound healing, Dyspnea, Wheezing, Pneumothorax, Erythema, Bronchiectasis, Skin ulcer, Xerost...	ORPHA:99921
Aicardi-Goutieres Syndrome 1	Chilblains, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Fontaine Progeroid Syndrome	Death in infancy, Dermal translucency, Redundant skin, Neonatal death, Premature skin wrinkling, ...	OMIM:612289
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Dry skin	ORPHA:95715
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over...	ORPHA:420561
Lethal Acantholytic Erosive Disorder	Oligohydramnios, Acantholysis	ORPHA:158687
Severe Intellectual Disability And Progressive Spastic Paraplegia	Wide mouth, Everted upper lip vermilion, High palate, Short philtrum	ORPHA:280763
Jung Syndrome	Dry skin	ORPHA:2321
Lig4 Syndrome	Thin vermilion border, Erythema, Telangiectasia of the skin, Cutaneous photosensitivity	ORPHA:99812
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Recurrent respiratory infections, Thin upper lip vermilion, Tented upper lip vermilion, High pala...	OMIM:616579
Hypercalcemia, Infantile, 1	Hypercalcemia, Dehydration	OMIM:143880
Ifap Syndrome 2	Ichthyosis follicularis, Angular cheilitis, Perioral erythema	OMIM:619016
Cystinosis	Dehydration, Hypokalemia, Hypophosphatemia, Polydipsia, Abnormal repetitive mannerisms	ORPHA:213
Basan Syndrome	Ectodermal dysplasia, Palmoplantar keratoderma, Epidermal acanthosis	OMIM:129200
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:28378
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Cleft lip, Cleft palate, Downturned corners of mouth, Everted lower lip vermilion, Narrow mouth, ...	OMIM:618089
Cutis Laxa, Autosomal Dominant 1	Prematurely aged appearance, Redundant skin, Poor wound healing, Progeroid facial appearance, Dys...	OMIM:123700
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Death in adolescence, Dehydration, Death in childhood	OMIM:560000
Nicolaides-Baraitser Syndrome	Recurrent respiratory infections, Thin upper lip vermilion, Short lingual frenulum, Eczema, High,...	OMIM:601358
Congenital Short Bowel Syndrome	Dehydration, Steatorrhea	OMIM:615237
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Everted lower lip vermilion	OMIM:278200
Rothmund-Thomson Syndrome Type 2	Delayed eruption of teeth, Plantar hyperkeratosis, Porokeratosis, Abnormal dental enamel morpholo...	ORPHA:221016
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thin upper lip vermilion, Everted lower lip vermilion, High palate, Webbed neck, Long philtrum	OMIM:616549
Incontinentia Pigmenti	Delayed eruption of teeth, Maculopapular exanthema, Conical tooth, Erythema, Hyperkeratosis, Olig...	OMIM:308300
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema	OMIM:618773
Noonan Syndrome 13	Dry skin, Lymphedema	OMIM:619087
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Dehydration	OMIM:203400
Ogden Syndrome	High, narrow palate, Pulmonary artery stenosis, Everted upper lip vermilion, Cutis laxa	ORPHA:276432
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the lung, Skin ulcer	ORPHA:424019
Localized Scleroderma	Abnormality of the dentition, Thickened skin, Erythema, Dental malocclusion, Abnormality on pulmo...	ORPHA:90289
Infantile Myofibromatosis	Neoplasm of the lung, Gingival fibromatosis, Skin ulcer	ORPHA:2591
Cranioectodermal Dysplasia 3	Hypoplasia of teeth, Cutis laxa, Ectodermal dysplasia, Widely spaced teeth, Everted lower lip ver...	OMIM:614099
Chronic Granulomatous Disease	Recurrent respiratory infections, Sinusitis, Eczema, Chronic pulmonary obstruction, Skin ulcer, G...	ORPHA:379
Rapp-Hodgkin Syndrome	Dry skin, Palmoplantar keratoderma	OMIM:129400
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Dehydration	OMIM:602722
Noonan Syndrome 10	Increased nuchal translucency, Hyperkeratosis, Hyperextensible skin, High palate, Webbed neck, Pa...	OMIM:616564
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hypercholesterolem...	OMIM:610644
Myoectodermal Gonadal Dysgenesis Syndrome	Thin vermilion border, Hypodontia, Scaling skin, Long philtrum, Dry skin, Smooth philtrum	OMIM:618419
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W...	OMIM:618067
Aplasia Cutis Congenita	Skin ulcer	ORPHA:1114
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Eclabion, Recurrent respiratory infections, Thin upper lip vermilion, Reduced subcutaneous adipos...	OMIM:619950
Mass Syndrome	Striae distensae	OMIM:604308
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Polyhydramnios, Recurrent pneumonia, Dehydration, Intrauterine growth retar...	OMIM:616271
Hengel-Maroofian-Schols Syndrome	Thick vermilion border, Short philtrum, Widely spaced teeth, Everted lower lip vermilion, Tooth m...	OMIM:619641
Familial Tumoral Calcinosis	Skin rash, Abnormality of the dentition, Abnormality of the gingiva, Erythema, Gingivitis, Abnorm...	ORPHA:53715
Coffin-Lowry Syndrome	Delayed eruption of teeth, Death in early adulthood, Abnormal dental morphology, Redundant skin, ...	ORPHA:192
Koolen-De Vries Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, High, narrow palate, Cleft palat...	ORPHA:96169
Kikuchi-Fujimoto Disease	Palpebral edema, Skin rash, Pruritus, Pustule, Erythema, Abnormal pulmonary interstitial morpholo...	ORPHA:50918
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Everted lower lip vermilion, Short philtrum, Long philtrum	OMIM:619556
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Hyperalaninemia, Increased serum pyruvate, Dystonia, Hyperglutamatemia, Anorexi...	ORPHA:3008
Chikungunya	Maculopapular exanthema, Epistaxis, Skin rash, Facial edema, Pruritus, Erythema nodosum, Erythema...	ORPHA:324625
Familial Mediterranean Fever	Skin rash, Erythema, Pedal edema, Pleuritis, Ascites, Erysipelas, Oral leukoplakia	ORPHA:342
Cranioectodermal Dysplasia	Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v...	ORPHA:1515
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Thick vermilion border, Everted lower lip vermilion, Abnormal spaced incisors, Short philtrum	ORPHA:411986
Enteric Anendocrinosis	Dehydration	ORPHA:83620
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent u...	ORPHA:51636
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Polyhydramnios, Dehydration, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increa...	OMIM:214700
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Cleft lip, Pulmonary artery stenosis, Thick lower lip vermilion, Cleft...	OMIM:280000
Nodular Non-Suppurative Panniculitis	Erythema, Edema	ORPHA:33577
Tangier Disease	Dry skin	OMIM:205400
Mednik Syndrome	Death in infancy, Erythema, Death in childhood, Ichthyosis, Neonatal death	OMIM:609313
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Dry skin	ORPHA:226313
German Syndrome	Lymphedema, Orofacial cleft, Everted lower lip vermilion, High palate, Open mouth	ORPHA:2077
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Skin rash, Periorbital edema, Recurrent pharyngitis, Erythema, Pleuritis, Erysipelas, Bruising su...	ORPHA:32960
Shigellosis	Urticaria, Pneumonia, Dehydration, Purpura	ORPHA:810
Hallermann-Streiff Syndrome	Recurrent respiratory infections, Natal tooth, Selective tooth agenesis, High, narrow palate, Sup...	OMIM:234100
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys...	OMIM:265120
Kindler Epidermolysis Bullosa	Recurrent skin infections, Abnormal dental enamel morphology, Premature loss of primary teeth, Ca...	ORPHA:2908
Punctate Palmoplantar Keratoderma Type 1	Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, Palmoplantar hyperkeratosis...	ORPHA:79501
8Q12 Microduplication Syndrome	Long philtrum, Everted lower lip vermilion, Narrow mouth	ORPHA:228399
Axenfeld-Rieger Syndrome	Microdontia, Everted lower lip vermilion, Redundant skin, Hypodontia	ORPHA:782
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ...	ORPHA:884
Bloom Syndrome	Recurrent upper respiratory tract infections, Bronchiectasis, Agenesis of maxillary lateral incis...	OMIM:210900
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, Prominent superficial blood vessels, Cyanosis, Dental crowding, Short ...	ORPHA:740
Rat-Bite Fever	Maculopapular exanthema, Skin rash, Erythema nodosum, Pustule, Scaling skin, Morbilliform rash, P...	ORPHA:31205
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Recurrent skin infections, Oral mucosal blisters, Erythema, Palmoplantar keratoderma, Smooth tong...	ORPHA:79396
Eec Syndrome	Hyperkeratosis, Dry skin, Xerostomia	ORPHA:1896
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H...	OMIM:619736
Ehlers-Danlos Syndrome, Classic-Like	Poor wound healing, Hyperextensible skin, Soft skin, Bruising susceptibility, Striae distensae	OMIM:606408
Leishmaniasis	Abnormal oral mucosa morphology, Skin ulcer, Rhinitis, Pallor, Abnormal oral cavity morphology	ORPHA:507
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Tented upper lip vermilion, Exaggerated cupid's bow, Narrow mouth, Deep philtrum, Downturned corn...	OMIM:619720
22Q11.2 Deletion Syndrome	Acne, Abnormal dental enamel morphology, Polyhydramnios, Abnormality of the dentition, Carious te...	ORPHA:567
Aicardi-Goutieres Syndrome 9	Chilblains, Edema, Pericardial effusion, Dry skin, Ascites	OMIM:619487
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st...	OMIM:615067
Scholte Syndrome	Reduced subcutaneous adipose tissue, Everted lower lip vermilion	OMIM:300977
Pachyonychia Congenita	Palmoplantar keratoderma, Linear arrays of macular hyperkeratoses in flexural areas, Follicular h...	ORPHA:2309
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Exaggerated cupid's bow, Dehydration, Downturned corners of mouth, P...	ORPHA:2131
Isovaleric Acidemia	Dehydration	OMIM:243500
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Redundant neck skin, Redundant skin, Carious teeth, Abnormal subcutaneous fat tissue distribution...	ORPHA:357074
Squalene Synthase Deficiency	Dry skin	OMIM:618156
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Apnea, Dental crowding, Fetal ascites, Deep philtrum, Facial erythema, Downturned corners of mout...	OMIM:619503
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Erythema, Skin rash, Cerebral edema, Death in childhood	OMIM:618321
Proteasome-Associated Autoinflammatory Syndrome 4	Erythema, Edema	OMIM:619183
Zygomycosis	Unusual skin infection, Sinusitis, Epistaxis, Periorbital edema, Atelectasis, Pustule, Pneumothor...	ORPHA:73263
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Redundant skin, Cutis laxa, Emphysema, Oligohydramnios	OMIM:219100
Noonan Syndrome 2	Polyhydramnios, Increased nuchal translucency, Hyperkeratosis, Hyperextensible skin, Palmoplantar...	OMIM:605275
3-Hydroxy-3-Methylglutaric Aciduria	Apnea, Edema, Jaundice, Tachypnea, Dehydration, Pallor	ORPHA:20
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Intrauterine growth retardation, Pulmonary artery stenosis, Everted lower lip vermilion, Long phi...	ORPHA:75389
Kleefstra Syndrome 2	Everted lower lip vermilion, Bifid uvula	OMIM:617768
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency	Redundant skin, Cutis laxa	ORPHA:91135
Atkin-Flaitz Syndrome	Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor...	ORPHA:1193
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hyperammonemia, Hyperglycinemia, Dehydration	OMIM:251000
Sialidosis Type 1	Hyperkeratosis	ORPHA:812
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion	ORPHA:181
Infantile Systemic Hyalinosis	Abnormal dental morphology, Telangiectasia of the skin, Lymphedema, Thickened skin, Gingival over...	ORPHA:2176
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hypogeusia, Dry skin, Perianal erythema, Perioral erythema	OMIM:201100
Hydroxykynureninuria	Dry skin	ORPHA:79155
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies	High, narrow palate, Thick vermilion border, Everted lower lip vermilion, Short philtrum, Long ph...	OMIM:619880
Gcgr-Related Hyperglucagonemia	Stomatitis, Necrolytic migratory erythema	ORPHA:438274
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Oligodontia, Everted lower lip vermilion, Hypodontia, Hypohidrotic ectodermal dysplasia, Dry skin	OMIM:614940
Mesoaxial Hexadactyly And Cardiac Malformation	Everted lower lip vermilion	OMIM:249670
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Dehydration	OMIM:300200
Familial Multiple Nevi Flammei	Pulmonary embolism, Skin ulcer, Edema	ORPHA:624
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Thin upper lip vermilion, Tented upper lip vermilion, Thick lower lip vermilion, Wide mouth, Ever...	OMIM:620075
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Neonatal respiratory distress, Apnea, Erythema, Aspiration, Stridor, High palate, Intrauterine gr...	OMIM:614653
Intellectual Developmental Disorder, Autosomal Recessive 35	Downturned corners of mouth, Thin upper lip vermilion, Everted lower lip vermilion, Long philtrum	OMIM:615162
Brooke-Spiegler Syndrome	Abnormality of the sublingual glands, Abnormality of the submandibular glands, Skin ulcer, Saliva...	ORPHA:79493
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Pulmonary hypoplasia, Dehydration, Oligohydramnios	OMIM:263200
Mycetoma	Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis	ORPHA:2583
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Thin upper lip vermilion, Thick lower lip vermilion, Gingival overgrowth, Cleft palate, Downturne...	OMIM:220500
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin	ORPHA:79431
Non-Distal Duplication 13Q	Abnormality of the dentition, Thin vermilion border, High palate, Everted lower lip vermilion, Lo...	ORPHA:1702
Xfe Progeroid Syndrome	Ascites, Dry skin, Death in adolescence	OMIM:610965
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema	ORPHA:1164
Congenital Disorder Of Glycosylation, Type Iir	Ascites, Cutis laxa	OMIM:301045
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Hyperkeratosis, Recurrent bacterial skin infections, Ichthyosis	OMIM:148210
Agammaglobulinemia 8B, Autosomal Recessive	Everted upper lip vermilion, Recurrent pneumonia, Short philtrum	OMIM:619824
Pearson Marrow-Pancreas Syndrome	Anorexia, Erythema, Hydrops fetalis, Dehydration, Death in childhood, Pallor, Hyperbilirubinemia,...	OMIM:557000
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Plantar hyperkeratosis, Porokeratosis, Abnormal dental enamel morpholo...	ORPHA:221008
Ehlers-Danlos Syndrome, Periodontal Type, 1	Alveolar bone loss around teeth, Prominent superficial veins, Poor wound healing, Hyperextensible...	OMIM:130080
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ...	OMIM:618278
Diencephalic Syndrome	Everted lower lip vermilion	ORPHA:1672
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Dry skin, Polyhydramnios	ORPHA:1812
Kawasaki Disease	Skin rash, Edema, Recurrent pharyngitis, Jaundice, Cheilitis, Abnormal pulmonary interstitial mor...	ORPHA:2331
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Thin upper lip vermilion, Everted upper lip vermilion, Deep philtrum, Pierre-Robin sequence, Ging...	OMIM:618381
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Everted lower lip vermilion, Ichthyosis	OMIM:242510
Noonan Syndrome 14	Dry skin, Polyhydramnios	OMIM:619745
Kleefstra Syndrome 1	Recurrent respiratory infections, Natal tooth, Protruding tongue, Persistence of primary teeth, T...	OMIM:610253
Loeys-Dietz Syndrome 1	Soft skin, Dermal translucency	OMIM:609192
Williams-Beuren Syndrome (WBS)	Microdontia, Everted lower lip vermilion	DECIPHER:3
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Dry skin	OMIM:618797
Alg11-Cdg	Dry skin	ORPHA:280071
Xq12-Q13.3 Duplication Syndrome	Recurrent upper respiratory tract infections, Everted lower lip vermilion, Eczema	ORPHA:314389
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Recurrent pneumonia, Cleft palate, Furrowed tongue, High palate, Shor...	OMIM:616449
Chromosome 2P16.1-P15 Deletion Syndrome	Thin upper lip vermilion, High, narrow palate, Recurrent upper respiratory tract infections, High...	OMIM:612513
Acth-Independent Macronodular Adrenal Hyperplasia	Bruising susceptibility, Thin skin, Striae distensae	OMIM:219080
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Thin upper lip vermilion, Everted lower lip vermilion, Long philtrum	ORPHA:357175
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie...	ORPHA:365
Cranioectodermal Dysplasia 4	Recurrent pneumonia, Decreased nasal nitric oxide, Cutis laxa, Thin vermilion border, Taurodontia...	OMIM:614378
Wolcott-Rallison Syndrome	Hyponatremia, Dehydration, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia, Ascites	ORPHA:1667
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Polyhydramnios, Cutis laxa, Hyperextensible skin, Follicular hyperkeratosis, Soft skin	OMIM:614557
Systemic Sclerosis	Recurrent skin infections, Nail bed telangiectasia, Pruritus, Dyspnea, Thickened skin, Abnormal p...	ORPHA:90291
Den Hoed-De Boer-Voisin Syndrome	Dry skin, Death in adolescence, Oligohydramnios	OMIM:619229
Pigmented Nodular Adrenocortical Disease, Primary, 2	Bruising susceptibility, Thin skin, Striae distensae	OMIM:610475
Donohue Syndrome	Acanthosis nigricans, Hyperkeratosis	OMIM:246200
Ververi-Brady Syndrome	Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, High palate, Intrauterine grow...	OMIM:617982
Koolen-De Vries Syndrome	Eczema, Cleft upper lip, Cleft palate, Narrow palate, High palate, Widely spaced teeth, Everted l...	OMIM:610443
Nizon-Isidor Syndrome	Thin upper lip vermilion, High, narrow palate, Upper eyelid edema, Downturned corners of mouth, S...	OMIM:618872
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Dental crowding, Poor wound healing, Recurrent pneumonia, Respiratory insufficiency, Excessive wr...	OMIM:225400
2P15P16.1 Microdeletion Syndrome	Recurrent respiratory infections, Polyhydramnios, High palate, Everted lower lip vermilion, Narro...	ORPHA:261349
Branchio-Oculo-Facial Syndrome	Deep philtrum, Non-midline cleft lip, Orofacial cleft, Premature graying of hair, Tooth agenesis,...	ORPHA:1297
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Allergic rhinitis, Pruritus, Erythrod...	ORPHA:330064
Calciphylaxis	Cutis marmorata, Abnormality of skin physiology, Skin ulcer	ORPHA:280062
Congenital Ichthyosiform Erythroderma	Pruritus, Palmoplantar keratoderma, Erythroderma, Ichthyosis	ORPHA:79394
Ollier Disease	Skin ulcer	ORPHA:296
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Wide mouth, Everted upper lip vermilion, Widely spaced teeth, Oligohydramnios	OMIM:619056
Melanocytic Nevus Syndrome, Congenital	Deep philtrum, Everted lower lip vermilion, Open mouth, Long philtrum	OMIM:137550
2Q23.1 Microdeletion Syndrome	Macrodontia, Open mouth, Tented upper lip vermilion, Everted lower lip vermilion	ORPHA:228402
Braddock-Carey Syndrome 1	Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, Thick vermilion border, U-Shape...	OMIM:619980
Proximal Xq28 Duplication Syndrome	Tented upper lip vermilion, Everted lower lip vermilion	ORPHA:1762
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:1005
Microvillus Inclusion Disease	Pruritus, Dehydration	ORPHA:2290
Cutis Laxa, Autosomal Dominant 2	Premature skin wrinkling, Cutis laxa	OMIM:614434
19Q13.11 Microdeletion Syndrome	Dry skin	ORPHA:217346
Wiedemann-Rautenstrauch Syndrome	Acanthosis nigricans, Premature skin wrinkling, Recurrent skin infections, Dermal translucency	ORPHA:3455
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis, Oral leukoplakia	OMIM:615735
Papa Syndrome	Pustule, Acne, Skin ulcer	ORPHA:69126
Flynn-Aird Syndrome	Carious teeth, Skin ulcer	ORPHA:2047
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ...	OMIM:614748
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Cystic acne, Pyoderma gangrenosum, Acne	OMIM:604416
Ogden Syndrome	Redundant neck skin, Apnea, Redundant skin, Lymphedema, Deep philtrum, Short philtrum, High palat...	OMIM:300855
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Erosion of oral mucosa, Recurrent skin infections, Pneumonia, Edema, Abnorm...	ORPHA:79404
Liver Disease, Severe Congenital	Ascites, Pulmonary edema, Eczema, Dermal translucency	OMIM:619991
Lymphatic Malformation 6	Genital edema, Abnormal pinna morphology, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facia...	OMIM:616843
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration, Hyponatremia, Hyperkalemia	OMIM:143860
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Dry skin	OMIM:619244
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Recurrent respiratory infections, Thin upper lip vermilion, Carious teeth, ...	ORPHA:177907
Marshall-Smith Syndrome	Eclabion, Irregular dentition, Apnea, Short mandibular rami, Recurrent upper respiratory tract in...	OMIM:602535
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Hyperkeratosis, Recurrent pneumonia, Cutis marmorata, Bronchiectasis	OMIM:301220
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis, Lymphedema	ORPHA:79280
Livedoid Vasculopathy	Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Cutis marmora...	ORPHA:542643
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Thin upper lip vermilion, Dental crowding, Pierre-Robin sequence, Anterior open-bite malocclusion...	OMIM:617877
Loeys-Dietz Syndrome 2	Soft skin, Striae distensae, Dermal translucency	OMIM:610168
Blau Syndrome	Skin rash, Erythema nodosum, Dyspnea, Erythema, Xerostomia, Skin ulcer, Joint swelling, Ichthyosi...	ORPHA:90340
Immunodeficiency 49	Natal tooth, Psoriasiform dermatitis, Pulmonary artery stenosis, Cutis laxa, Short philtrum	OMIM:617237
Alpha-1-Antitrypsin Deficiency	Emphysema, Jaundice	ORPHA:60
Ullrich Congenital Muscular Dystrophy 1	Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, High palate, Nocturn...	OMIM:254090
Granulomatosis With Polyangiitis	Recurrent respiratory infections, Recurrent intrapulmonary hemorrhage, Sinusitis, Epistaxis, Skin...	ORPHA:900
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence...	ORPHA:364577
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Progeroid facial appearance, Abnormality of primary teeth, Gingivitis, Cutis laxa, Hyperextensibl...	ORPHA:75496
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Tremor, Hyperammonemia, Dehydration, Hyperglycinemia	OMIM:251100
Kleefstra Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Tented upper lip vermilion, Exaggera...	ORPHA:261494
Malan Syndrome	Cutis marmorata, Gingival overgrowth, Everted lower lip vermilion, Narrow mouth, Advanced eruptio...	OMIM:614753
Hypocomplementemic Urticarial Vasculitis	Skin rash, Pericardial effusion, Dyspnea, Angioedema, Emphysema, Pruritus, Restrictive ventilator...	ORPHA:36412
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Trichothiodystrophy 8, Nonphotosensitive	Thin upper lip vermilion, Long philtrum, Eczema, Cutis laxa	OMIM:619691
Beta-Thalassemia	Respiratory insufficiency, Pallor, Skin ulcer	ORPHA:848
Mucolipidosis Type Iv	Microdontia, Palmoplantar keratoderma, Everted lower lip vermilion	ORPHA:578
Neuroleptic Malignant Syndrome	Hyponatremia, Oculogyric crisis, Elevated circulating creatine kinase concentration, Tremor, Hypo...	ORPHA:94093
Dermatoosteolysis, Kirghizian Type	Oligodontia, Skin ulcer, Abnormality of the dentition	ORPHA:1657
Congenital Tufting Enteropathy	Dehydration, Steatorrhea	ORPHA:92050
Dyskeratosis Congenita	Recurrent respiratory infections, Telangiectasia of the skin, Abnormality of the dentition, Cario...	ORPHA:1775
Cushing Disease	Plethora, Acne, Dorsocervical fat pad, Poor wound healing, Intra-oral hyperpigmentation, Pedal ed...	ORPHA:96253
Cutis Laxa, Autosomal Recessive, Type Iie	Long philtrum, Thick lower lip vermilion, High palate, Cutis laxa	OMIM:619451
Pgm3-Cdg	Recurrent respiratory infections, Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, R...	ORPHA:443811
Takayasu Arteritis	Pulmonary arterial hypertension, Abnormal pattern of respiration, Skin ulcer	ORPHA:3287
Chromosome 19Q13.11 Deletion Syndrome, Distal	Dry skin	OMIM:613026
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Dry skin, Skin rash	ORPHA:220295
Oligomeganephronia	Pulmonary venous occlusion, Pulmonary hypoplasia, Dehydration	ORPHA:2260
Glucose/Galactose Malabsorption	Hypertonic dehydration	OMIM:606824
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperammonemia, Dehydration	OMIM:615453
Heart And Brain Malformation Syndrome	Polyhydramnios, High, narrow palate, Cleft lip, Thick lower lip vermilion, Everted lower lip verm...	OMIM:616920
Parkes Weber Syndrome	Prominent superficial blood vessels, Scaling skin, Skin ulcer	ORPHA:90307
Trichothiodystrophy	Congenital exfoliative erythroderma, Dry skin, Eczema, Ichthyosis	ORPHA:33364
Arterial Tortuosity Syndrome	Soft, doughy skin, Progeroid facial appearance, Pulmonary artery stenosis, Cutis laxa, Hyperexten...	OMIM:208050
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Telangiectasia of the skin, Abnormality of the dentition, Thick lower lip vermilion, Dental maloc...	ORPHA:85321
Proteasome-Associated Autoinflammatory Syndrome 1	Progeroid facial appearance, Erythema nodosum, Erythema, Recurrent upper respiratory tract infect...	OMIM:256040
Fabry Disease	Conjunctival telangiectasia, Telangiectasia of the skin, Angiokeratoma, Lymphedema, Dyspnea, Chro...	ORPHA:324
Alg8-Cdg	Abnormality of subcutaneous fat tissue, Edema, Hydrops fetalis, Cutis laxa, Macroglossia, Intraut...	ORPHA:79325
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Dehydration, Increased circulat...	ORPHA:90791
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Wide mouth, Macroglossia, Open mouth, Everted lower lip vermilion	OMIM:616789
Cranioectodermal Dysplasia 2	Polyhydramnios, Recurrent pneumonia, Hydrops fetalis, Cleft palate, Cutis laxa, Broad philtrum, E...	OMIM:613610
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Protruding tongue, Upper eyelid edema, Everted lower lip vermilion, High palate, Thin skin, Open ...	OMIM:617804
Char Syndrome	Persistence of primary teeth, No permanent dentition, Thick vermilion border, Everted lower lip v...	ORPHA:46627
Gapo Syndrome	Delayed eruption of teeth, Palpebral edema, Prematurely aged appearance, Hyperextensible skin, Ev...	ORPHA:2067
Giant Cell Arteritis	Epistaxis, Abnormal pleura morphology, Recurrent pharyngitis, Skin ulcer, Cough, Glossitis	ORPHA:397
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Jaundice, Hydrops fetalis, Dehydration, Pulmonary arter...	ORPHA:79282
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Eczema, Polyhydramnios, Hyperkeratosis, Hyperextensible skin, Ichthyosis	OMIM:607721
Uruguay Faciocardiomusculoskeletal Syndrome	Everted lower lip vermilion, Thick vermilion border	OMIM:300280
Cystic Fibrosis	Nasal polyposis, Reduced forced expiratory volume in one second, Reduced forced vital capacity, R...	OMIM:219700
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia, Dehydration	ORPHA:35710
Septo-Optic Dysplasia Spectrum	Dry skin	ORPHA:3157
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hyperammonemia, Hyperglycinemia, Dehydration	OMIM:251110
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Pruritus, Hyperkalemia, Dehydration, Xanthelasma, Steatorrhea...	ORPHA:275761
Cryoglobulinemic Vasculitis	Cutis marmorata, Petechiae, Skin ulcer, Purpura	ORPHA:91138
Foxg1 Syndrome Due To 14Q12 Microdeletion	Tented upper lip vermilion, Palpebral edema, Macroglossia, Everted lower lip vermilion, Smooth ph...	ORPHA:261144
Pigmented Nodular Adrenocortical Disease, Primary, 1	Bruising susceptibility, Thin skin, Striae distensae	OMIM:610489
Dend Syndrome	Downturned corners of mouth, Dehydration, Long philtrum	ORPHA:79134
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Repeated pneumothoraces, Cutis marmorata, Carious teeth, Downturned corners of m...	OMIM:617602
9P13 Microdeletion Syndrome	Dry skin	ORPHA:324313
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Unilateral deafness, Edema	OMIM:612097
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Adult Syndrome	Dry skin, Eczema	OMIM:103285
Wagr Syndrome	Everted lower lip vermilion	ORPHA:893
Scorpion Envenomation	Pulmonary edema, Edema, Erythema, Tachypnea, Abnormal nasal mucus secretion, Purpura	ORPHA:466677
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Prominent superficial veins, Prematurely aged appearance, Thickened sk...	OMIM:601812
Behcet Syndrome	Erythema nodosum, Erythema, Oral ulcer	OMIM:109650
Bethlem Myopathy	Hyperkeratosis	ORPHA:610
Smith-Magenis Syndrome	Everted upper lip vermilion, Velopharyngeal insufficiency, Orofacial cleft, Abnormality of the de...	OMIM:182290
Mucopolysaccharidosis Type 1	Recurrent respiratory infections, Sinusitis, Apnea, Thick lower lip vermilion, Gingival overgrowt...	ORPHA:579
Hypophosphatasia	Emphysema, Respiratory insufficiency, Abnormality of the dentition	ORPHA:436
Vipoma	Respiratory insufficiency due to muscle weakness, Erythema, Dehydration, Intermittent jaundice, A...	ORPHA:97282
Reactive Arthritis	Abnormal pleura morphology, Pustule, Respiratory insufficiency, Joint swelling, Hyperkeratosis, R...	ORPHA:29207
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Hyperkeratosis, Stillbirth, Death in childhood, Dry skin, Oligohydramnios	OMIM:210710
Amyloidosis, Finnish Type	Cutis laxa	OMIM:105120
Pyoderma Gangrenosum	Skin vesicle, Pustule, Skin ulcer	ORPHA:48104
Psoriasis-Related Juvenile Idiopathic Arthritis	Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Pruritus, Malar rash	ORPHA:85436
Craniofaciofrontodigital Syndrome	Respiratory distress, Prominent superficial veins, Polyhydramnios, Edema, Pericardial effusion, D...	ORPHA:363705
Bainbridge-Ropers Syndrome	Thin upper lip vermilion, Death in infancy, Dental crowding, Polyhydramnios, Gingival overgrowth,...	OMIM:615485
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent respiratory infections, Eczema, Abnormal dental enamel morphology, Erythema, Cheilitis,...	ORPHA:2273
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Hypernatremia, Hypertonic dehydration	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Hypernatremia, Hypertonic dehydration	OMIM:304800
Bartter Syndrome, Type 3	Hyperchloriduria, Dehydration, Hypokalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:607364
Acquired Purpura Fulminans	Skin rash, Acrocyanosis, Pyoderma gangrenosum, Macular purpura	ORPHA:49566
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip...	OMIM:616367
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Helix Syndrome	Dry skin, Xerostomia	OMIM:617671
Osteootohepatoenteric Syndrome	Pruritus, Increased serum bile acid concentration, Hypokalemia, Dehydration	OMIM:619377
Wiskott-Aldrich Syndrome	Recurrent respiratory infections, Recurrent intrapulmonary hemorrhage, Sinusitis, Epistaxis, Ecze...	ORPHA:906
X-Linked Intellectual Disability, Shashi Type	Everted lower lip vermilion, Palpebral edema	ORPHA:85286
Resistance To Thyrotropin-Releasing Hormone Syndrome	Dry skin	ORPHA:99832
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Erythematous oral mucosa, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furr...	OMIM:158310
Cutis Laxa, Autosomal Recessive, Type Iiia	Prominent superficial blood vessels, Cutis laxa, Hyperextensible skin, Thin skin, Narrow mouth, I...	OMIM:219150
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Recurrent pneumonia, Cl...	ORPHA:464738
Cardiofaciocutaneous Syndrome 1	Polyhydramnios, Abnormality of the dentition, Open bite, Deep philtrum, Submucous cleft hard pala...	OMIM:115150
Microcephaly-Deafness-Intellectual Disability Syndrome	Everted lower lip vermilion, Abnormal palate morphology	ORPHA:2533
Autosomal Dominant Hypocalcemia	Dry skin, Eczema	ORPHA:428
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Dehydration, Hypophosphatemia, Hypokalemia, Hypoc...	ORPHA:31824
Familial Renal Glucosuria	Elevated hemoglobin A1c, Dehydration	ORPHA:69076
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis	OMIM:620189
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper...	OMIM:608670
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Thick vermilion border, High palate, Short philtrum, Everted lower lip...	OMIM:615866
Acrocallosal Syndrome	Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,...	OMIM:200990
Congenital Disorder Of Glycosylation, Type Iia	Macrodontia, Protruding tongue, Diastema, Gingival overgrowth, Wide mouth, Thin vermilion border,...	OMIM:212066
Meester-Loeys Syndrome	Poor wound healing, Gingival overgrowth, High palate, Pulmonary artery aneurysm, Bruising suscept...	OMIM:300989
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Advanced eruption ...	OMIM:617865
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Dry skin, Eczema	ORPHA:508542
Isolated Thyroid-Stimulating Hormone Deficiency	Facial edema, Dry skin	ORPHA:90674
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology, Cleft palate, Cleft upper lip	ORPHA:398189
Ehlers-Danlos Syndrome, Vascular Type	Ecchymosis, Hyperextensible skin, Dermal translucency	OMIM:130050
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Everted lower lip vermilion, Upper eyelid edema	OMIM:616819
Fetal Hydantoin Syndrome	Wide mouth, Intrauterine growth retardation, Everted lower lip vermilion, Cleft palate	ORPHA:1912
Mucopolysaccharidosis, Type Iiic	Recurrent upper respiratory tract infections, Everted lower lip vermilion	OMIM:252930
Rabson-Mendenhall Syndrome	Acanthosis nigricans, Dry skin	ORPHA:769
Microsporidiosis	Sinusitis, Pneumonia, Bronchitis, Dehydration, Rhinitis, Bronchiolitis, Glossitis	ORPHA:2552
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Eczema, Cutis marmorata, Erythema nodosum, Aphthous ulcer, Oral ulcer, Skin ulcer, Rec...	OMIM:615688
Intellectual Developmental Disorder, Autosomal Dominant 54	Dry skin, Eczema	OMIM:617799
Loeys-Dietz Syndrome 3	Soft skin, Striae distensae, Dermal translucency	OMIM:613795
21Q22.11Q22.12 Microdeletion Syndrome	Dry skin	ORPHA:261323
Primary Sjögren Syndrome	Abnormal pulmonary thoracic imaging finding, Parotitis, Lymphocytic interstitial pneumonia, Bronc...	ORPHA:289390
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Dry skin	ORPHA:2637
Hermansky-Pudlak Syndrome	Epistaxis, Abnormal dental enamel morphology, Dyspnea, Thickened skin, Hyperkeratosis, Pulmonary ...	ORPHA:79430
Dyskeratosis Congenita, Autosomal Dominant 3	Dry skin	OMIM:613990
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Adrenocortical Carcinoma	Lung adenocarcinoma, Striae distensae	ORPHA:1501
Chanarin-Dorfman Syndrome	Everted lower lip vermilion, Congenital nonbullous ichthyosiform erythroderma	OMIM:275630
Helsmoortel-Van Der Aa Syndrome	Recurrent respiratory infections, Thin upper lip vermilion, Carious teeth, High, narrow palate, T...	OMIM:615873
Renal Hypoplasia	Polydipsia, Dehydration	ORPHA:93101
Adult Syndrome	Abnormal dental morphology, Abnormality of the dentition, Skin ulcer, Thin skin, Dry skin	ORPHA:978
Fucosidosis	Generalized hyperkeratosis	ORPHA:349
Marfan Syndrome	Spontaneous pneumothorax, Dental crowding, Open bite, High, narrow palate, Emphysema, Cleft palat...	ORPHA:558
Tatton-Brown-Rahman Syndrome	Everted upper lip vermilion, Deep philtrum, Thin vermilion border, Exaggerated cupid's bow	OMIM:615879
Chromosome 17P13.1 Deletion Syndrome	High, narrow palate, Everted lower lip vermilion, High palate, Short philtrum, Webbed neck, Oligo...	OMIM:613776
Intellectual Developmental Disorder, Autosomal Dominant 1	Thin upper lip vermilion, Downturned corners of mouth, Macroglossia, Wide mouth, Everted lower li...	OMIM:156200
Lymphatic Filariasis	Predominantly lower limb lymphedema, Lymphedema, Abnormal lung morphology, Wheezing, Restrictive ...	ORPHA:2035
Amoebiasis Due To Free-Living Amoebae	Abnormality of taste sensation, Unusual skin infection, Sinusitis, Pneumonia, Respiratory tract i...	ORPHA:68
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Dry skin, Oligohydramnios	ORPHA:163956
Atopic Keratoconjunctivitis	Dry skin	ORPHA:163934
Digeorge Syndrome	Acne, Seborrheic dermatitis, Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruct...	OMIM:188400
Catastrophic Antiphospholipid Syndrome	Cutis marmorata, Miscarriage, Pulmonary embolism, Skin ulcer, Pulmonary arterial hypertension	ORPHA:464343
Trisomy 20P	Smooth philtrum, Abnormality of the dentition, Downturned corners of mouth, Thin vermilion border...	ORPHA:261318
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia,...	ORPHA:189427
Hurler Syndrome	Recurrent respiratory infections, Death in infancy, Macroglossia, Rhinitis, Thick vermilion borde...	ORPHA:93473
Acrofrontofacionasal Dysostosis	Non-midline cleft lip, Everted lower lip vermilion, High palate, Cleft palate	ORPHA:1784
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Dehydration, Increased blood urea nitrogen	ORPHA:230
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Dehydration, Hypokalem...	ORPHA:411634
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Skin ulcer	ORPHA:2218
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Menkes Disease	Thickened skin, Hyperextensible skin, Dry skin	ORPHA:565
Hajdu-Cheney Syndrome	Recurrent respiratory infections, Abnormality of the dentition, Open bite, Thickened skin, Skin u...	ORPHA:955
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Skin ulcer	OMIM:613640
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Dehydration, Abnormal circulati...	ORPHA:168558
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema	OMIM:118650
Bone Marrow Failure Syndrome 3	Hyperkeratosis, Hyperactivity, Eczema, Intrauterine growth retardation	OMIM:617052
Fryns-Smeets-Thiry Syndrome	Thick lower lip vermilion, Wide mouth, Downturned corners of mouth, Everted lower lip vermilion, ...	ORPHA:2058
Fucosidosis	Dry skin, Petechiae	OMIM:230000
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Dehydration, Hypokalemia, Hypophosphatemia, Polydipsia	ORPHA:411629
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Dehydration, Abnormal circulati...	ORPHA:289548
Pearson Syndrome	Hypomagnesemia, Hydrops fetalis, Dehydration, Steatorrhea, Corneal stromal edema, Hypophosphatemi...	ORPHA:699
Cushing Syndrome Due To Ectopic Acth Secretion	Plethora, Acne, Dorsocervical fat pad, Poor wound healing, Small cell lung carcinoma, Intra-oral ...	ORPHA:99889
Cutis Laxa, Autosomal Recessive, Type Iia	Redundant skin, Carious teeth, Cutis laxa, Excessive wrinkled skin, High palate, Narrow mouth, In...	OMIM:219200
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyhydramnios, Dehydration, Hypochloremia, H...	OMIM:241200
Paternal Uniparental Disomy Of Chromosome 6	Neonatal respiratory distress, Gingival overgrowth, Dehydration, Macroglossia, High palate, Intra...	ORPHA:96191
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Thin upper lip vermilion, Everted lower lip vermilion	OMIM:617101
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dry skin	OMIM:619306
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis	OMIM:615510
Dubowitz Syndrome	Dry skin, Eczema	ORPHA:235
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Polyhydramnios, Dehydration, H...	OMIM:601678
Anauxetic Dysplasia 3	Recurrent respiratory infections, Oligodontia, Cutis laxa	OMIM:618853
Cardiac Valvular Dysplasia, X-Linked	Thick vermilion border, Cutis laxa	OMIM:314400
Trisomy 12P	Downturned corners of mouth, Everted lower lip vermilion, Cleft palate	ORPHA:1699
Trisomy 8Q	Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum morphology, Everted ...	ORPHA:1752
Glucagonoma	Skin rash, Necrolytic migratory erythema, Pruritus, Intermittent jaundice, Stomatitis, Ascites, G...	ORPHA:97280
Coffin-Siris Syndrome 4	Thin upper lip vermilion, Everted upper lip vermilion, Thick lower lip vermilion, Cleft palate, W...	OMIM:614609
Melas	Pulmonary arterial hypertension, Erythema	ORPHA:550
Late-Onset Isolated Acth Deficiency	Dry skin	ORPHA:199299
Marfan Syndrome	Reduced subcutaneous adipose tissue, Dental crowding, Emphysema, Pneumothorax, Narrow palate, Hig...	OMIM:154700
3M Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Everted lower lip vermilion, Long p...	ORPHA:2616
Sheehan Syndrome	Dry skin, Pallor	ORPHA:91355
Scalp-Ear-Nipple Syndrome	Thickened skin, Dry skin, Palpebral edema	OMIM:181270
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Pruritus, Abnormality of the tongue, Skin ulcer,...	ORPHA:556
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Acral ulceration	OMIM:613115
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Polyhydramnios, Anorexia, Polydipsia, Hypernatremia	ORPHA:223
Hamamy Syndrome	Thin upper lip vermilion, Dental malocclusion, Wide mouth, Everted lower lip vermilion, High pala...	OMIM:611174
3Q29 Microdeletion Syndrome	Dental crowding, Abnormality of the dentition, Orofacial cleft, High palate, Short philtrum, Ever...	ORPHA:65286
Bainbridge-Ropers Syndrome	High, narrow palate, Open mouth, Everted lower lip vermilion, Dental crowding	ORPHA:352577
Scheie Syndrome	Wide mouth, Thick vermilion border, Rhinitis, Everted lower lip vermilion	ORPHA:93474
Leprechaunism	Thickened skin, Hyperkeratosis, Hypokalemia, Hyperaldosteronism, Hyperextensible skin, Severe int...	ORPHA:508
X-Linked Intellectual Disability, Snyder Type	Smooth philtrum, Dental crowding, Thick lower lip vermilion, Cleft palate, Webbed neck, High pala...	ORPHA:3063
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Acral ulceration, Tongue fasciculations	OMIM:162400
Common Variable Immunodeficiency	Recurrent respiratory infections, Pneumonia, Bronchiectasis, Restrictive ventilatory defect, Emph...	ORPHA:1572
Marburg Hemorrhagic Fever	Skin rash, Maculopapular exanthema, Anorexia, Aggressive behavior, Elevated circulating creatine ...	ORPHA:99826
Ichthyosis, Congenital, Autosomal Recessive 4A	Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma	OMIM:601277
Geroderma Osteodysplasticum	Progeroid facial appearance, Neonatal wrinkled skin of hands and feet, Cutis laxa, Periodontitis,...	OMIM:231070
Leukocyte Adhesion Deficiency, Type I	Poor wound healing, Chronic mucocutaneous candidiasis, Skin ulcer, Gingivitis, Periodontitis	OMIM:116920
Bartter Syndrome Type 4	Hyponatremia, Polyhydramnios, Dehydration, Hypochloremia, Hypokalemia, Hyperaldosteronism, Increa...	ORPHA:89938
Leprosy	Hyperkeratosis, Penetrating foot ulcers, Acral ulceration	ORPHA:548
Johnson Neuroectodermal Syndrome	Carious teeth, Everted lower lip vermilion, Cleft palate	ORPHA:2316
Developmental And Epileptic Encephalopathy 49	Tented upper lip vermilion, Short philtrum, Everted lower lip vermilion, Open mouth, Thick upper ...	OMIM:617281
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Pyoderma, Emphysema, ...	OMIM:242700
Neutral Lipid Storage Disease With Ichthyosis	Eclabion, Congenital nonbullous ichthyosiform erythroderma	ORPHA:98907
Fanconi Renotubular Syndrome 5	Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Vici Syndrome	Recurrent respiratory infections, Everted upper lip vermilion, Median cleft lip, Cleft upper lip,...	OMIM:242840
Schwartz-Jampel Syndrome	Pursed lips, Death in infancy, Apnea, Polyhydramnios, Supernumerary tooth, Dental malocclusion, R...	ORPHA:800
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Everted lower lip vermilion, Smooth philtrum, Protruding tongue	ORPHA:324410
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Inflammatory abnormalit...	ORPHA:95455
Vascular Ehlers-Danlos Syndrome	Excessive wrinkled skin, Redundant skin, Dermal translucency	ORPHA:286
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent respiratory infections, Abnormal dental morphology, Eczema, Hyperkeratosis, Ectodermal ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent respiratory infections, Abnormal dental morphology, Eczema, Hyperkeratosis, Ectodermal ...	ORPHA:363958
Megalocornea-Intellectual Disability Syndrome	Open mouth, Everted lower lip vermilion, High palate, Short philtrum	ORPHA:2479
Meier-Gorlin Syndrome 4	Intrauterine growth retardation, Emphysema, Thick lower lip vermilion, Narrow mouth	OMIM:613804
Nestor-Guillermo Progeria Syndrome	Dry skin	OMIM:614008
Axenfeld-Rieger Syndrome, Type 2	Microdontia, Everted lower lip vermilion, Short philtrum, Hypodontia	OMIM:601499
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Death in infancy, Tented upper lip vermilion, Abnormality of the dentition, Thick lower lip vermi...	ORPHA:847
Cystinosis, Nephropathic	Hyponatremia, Oral-pharyngeal dysphagia, Hypomagnesemia, Dehydration, Reduced blood urea nitrogen...	OMIM:219800
Hereditary Spherocytosis	Jaundice, Maculopapular exanthema, Pallor, Skin ulcer	ORPHA:822
Woodhouse-Sakati Syndrome	Scaling skin, Anodontia	ORPHA:3464
Menkes Disease	Death in childhood, Intrauterine growth retardation, Cutis laxa	OMIM:309400
Moebius Syndrome	Death in infancy, Aplasia/Hypoplasia of the tongue, Cleft palate, Tooth agenesis, High palate, Ev...	ORPHA:570
Coffin-Lowry Syndrome	Cutis marmorata, Thick lower lip vermilion, Dental malocclusion, Narrow palate, Cutis laxa, High ...	OMIM:303600
Hyperoxaluria, Primary, Type I	Acrocyanosis, Cutis marmorata, Dehydration	OMIM:259900
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Epistaxis, Cutis laxa	OMIM:610842
Ablepharon Macrostomia Syndrome	Excessive wrinkled skin, Dry skin, Redundant skin	ORPHA:920
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Recurrent respiratory infections, Absence of Stensen duct, Selective tooth agenesis, Cleft upper ...	OMIM:129900
Bohring-Opitz Syndrome	Bilateral cleft palate, Neonatal respiratory distress, Polyhydramnios, Cleft upper lip, Narrow pa...	OMIM:605039
Cranioectodermal Dysplasia 1	Recurrent respiratory infections, High, narrow palate, Ectodermal dysplasia, High palate, Widely ...	OMIM:218330
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Elevated circulating creatinine concentration, Dehydration, Hypokalemia, Unconjugat...	ORPHA:90038
Dominant Beta-Thalassemia	Abnormality of the dentition, Dyspnea, Jaundice, Skin ulcer, Pallor	ORPHA:231226
Lipodystrophy, Familial Partial, Type 7	Acanthosis nigricans, Pleural effusion, Dry skin, Facial wrinkling	OMIM:606721
Plague	Chapped lip, Skin rash, Edema, Erythema nodosum, Skin ulcer, Dry skin	ORPHA:707
Kleefstra Syndrome Due To 9Q34 Microdeletion	Downturned corners of mouth, Macroglossia, Everted lower lip vermilion, Protruding tongue	ORPHA:96147
Limb-Mammary Syndrome	Dry skin, Psoriasiform dermatitis	ORPHA:69085
Wrinkly Skin Syndrome	Delayed eruption of teeth, Recurrent sinopulmonary infections, Carious teeth, Excessive skin wrin...	ORPHA:2834
Lmna-Related Cardiocutaneous Progeria Syndrome	Emphysema, Premature graying of hair, Scleroderma, Premature skin wrinkling, Abnormality of the p...	ORPHA:363618
Beta-Thalassemia Intermedia	Pulmonary arterial hypertension, Jaundice, Pallor, Skin ulcer	ORPHA:231222
Distal Renal Tubular Acidosis	Polydipsia, Hypokalemia, Dehydration	ORPHA:18
Simple Cryoglobulinemia	Abnormal lung morphology, Cold urticaria, Acral ulceration, Vascular skin abnormality, Purpura	ORPHA:91139
Loeys-Dietz Syndrome 6	High palate, Striae distensae	OMIM:619656
Acute Adrenal Insufficiency	Dry skin	ORPHA:95409
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Skin ulcer	ORPHA:86884
Classical Ehlers-Danlos Syndrome	Prematurely aged appearance, Poor wound healing, Bruising susceptibility, Joint swelling, Blephar...	ORPHA:287
Autosomal Recessive Faciodigitogenital Syndrome	Open bite, Deep philtrum, Wide mouth, Hyperextensible skin, Everted lower lip vermilion, High pal...	ORPHA:1974
Primary Fanconi Renotubular Syndrome	Pulmonary fibrosis, Dehydration	ORPHA:3337
Spondylodysplastic Ehlers-Danlos Syndrome	Prominent scalp veins, Soft, doughy skin, Lymphedema, Abnormality of the dentition, Respiratory i...	ORPHA:536471
Ramon Syndrome	Hyperkeratosis	OMIM:266270
Scarf Syndrome	Cutis laxa, Hypocalcification of dental enamel, Webbed neck, Enamel hypoplasia, Long philtrum	ORPHA:3134
2Q31.1 Microdeletion Syndrome	Deep philtrum, Cleft palate, Downturned corners of mouth, Thin vermilion border, Everted lower li...	ORPHA:251014
Aortic Aneurysm, Familial Thoracic 10	High palate, Dental crowding, Striae distensae	OMIM:617168
Pseudoxanthoma Elasticum	Decreased DLCO, Civatte bodies, White oral mucosal macule, Cutis laxa	OMIM:264800
Aicardi-Goutières Syndrome	Dry skin, Chilblains	ORPHA:51
Adenocarcinoma Of The Anal Canal	Neoplasm of the lung, Skin ulcer	ORPHA:424016
Nablus Mask-Like Facial Syndrome	Thin upper lip vermilion, Abnormality of the dentition, Everted lower lip vermilion, High palate,...	OMIM:608156
Baller-Gerold Syndrome	Erythema, Cleft palate, Thin vermilion border, High palate, Severe intrauterine growth retardatio...	OMIM:218600
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Abnormality of dental eruption, Wide mouth, Everted lower lip vermilion, Lon...	ORPHA:96092
Cockayne Syndrome B	Dry skin, Death in childhood	OMIM:133540
Isolated Permanent Neonatal Diabetes Mellitus	Downturned corners of mouth, Intrauterine growth retardation, Dehydration	ORPHA:99885
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis	OMIM:618267
Charcot-Marie-Tooth Disease Type 4B2	Reduced vital capacity, Tongue atrophy, Penetrating foot ulcers, Respiratory insufficiency, Diffi...	ORPHA:99956
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Everted upper lip vermilion, Deep philtrum, Short philtrum	OMIM:619951
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Poor wound healing, Abnormal pulmonary interstitial morphology,...	ORPHA:2072
Loeys-Dietz Syndrome	Orofacial cleft, High palate, Thin skin, Bruising susceptibility, Bifid uvula, Striae distensae	ORPHA:60030
Beta-Thalassemia Major	Abnormality of the dentition, Dyspnea, Jaundice, Skin ulcer, Pallor	ORPHA:231214
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Miscarriage, Acne, Hyperkalemia, Dehydration,...	ORPHA:90794
Perlman Syndrome	Everted upper lip vermilion, Tented upper lip vermilion, Polyhydramnios, Edema, Long upper lip, A...	OMIM:267000
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Thin upper lip vermilion, Thick lower lip vermilion, Thin vermilion border, Widely spaced teeth, ...	OMIM:612474
Urachal Cyst	Erythema	ORPHA:488
Sympathetic Ophthalmia	Erythema, Macular edema	ORPHA:79098
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cleft lip, Cleft palate, Everted lower lip vermilion, Thick vermilion border, Acanthosis nigrican...	OMIM:301066
Tangier Disease	Dry skin	ORPHA:31150
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Thin upper lip vermilion, Polyhydramnios, Pulmonary artery stenosis, Everted lower lip vermilion,...	ORPHA:459070
Bartsocas-Papas Syndrome 1	Dry skin	OMIM:263650
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Abnormal dental enamel morphology, Dyspnea, Erythema, Respiratory failure	ORPHA:2556
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Premature graying of hair, Emphysema, Pulmonary fibrosis	OMIM:620365
Syndromic Diarrhea	Dry skin	ORPHA:84064
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Everted lower lip vermilion	OMIM:615471
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Cleft palate, Polyhydramnios, Cutis laxa	OMIM:270420
Huriez Syndrome	Congenital palmoplantar hyperkeratosis, Epidermal acanthosis	OMIM:181600
Alzahrani-Kuwahara Syndrome	Dry skin, Eczema	OMIM:619268
Blau Syndrome	Eczema, Erythema nodosum, Skin ulcer, Joint swelling, Cystoid macular edema	OMIM:186580
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Anorexia, Dehydration, Increased circulating cortisol level, Primary hypercortisolism	ORPHA:652
Orofaciodigital Syndrome Type 1	Dry skin	ORPHA:2750
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Hypogeusia, Acral ulceration	OMIM:201300
Cockayne Syndrome A	Dry skin	OMIM:216400
Cutis Laxa, Autosomal Recessive, Type Iic	Reduced subcutaneous adipose tissue, Prominent superficial veins, Dental crowding, Pneumothorax, ...	OMIM:617402
Williams Syndrome	Recurrent respiratory infections, Death in early adulthood, Abnormal dental morphology, Redundant...	ORPHA:904
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Respiratory insufficiency, Cutis laxa, Hyperextensible s...	OMIM:222700
Xp21 Deletion Syndrome	Apneic episodes in infancy, Everted lower lip vermilion	ORPHA:261476
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Acne, Pustule, Pyoderma gangrenosum, Skin vesicle, ...	ORPHA:3243
Zollinger-Ellison Syndrome	Jaundice, Erythema	ORPHA:913
Neonatal Marfan Syndrome	Neonatal respiratory distress, High, narrow palate, Cutis laxa, Hypoxemia, Emphysema	ORPHA:284979
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Aplasia...	ORPHA:289
Goldberg-Shprintzen Syndrome	Oligodontia, Everted lower lip vermilion, Short philtrum, Thick vermilion border	OMIM:609460
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Long philtrum, Thin vermilion border, Cutis laxa	OMIM:614800
Macrocephaly/Autism Syndrome	Long philtrum, High palate, Cutis laxa	OMIM:605309
Van Den Ende-Gupta Syndrome	Dental crowding, High, narrow palate, Cleft palate, Stridor, High palate, Everted lower lip vermi...	OMIM:600920
Proximal Renal Tubular Acidosis	Hypokalemia, Polydipsia, Bicarbonaturia, Dehydration	ORPHA:47159
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Skin ulcer, Amelogenesis imperfecta	OMIM:245660
Ectodermal Dysplasia And Immunodeficiency 2	Dry skin	OMIM:612132
Multiple Endocrine Neoplasia Type 4	Erythema, Subcutaneous lipoma	ORPHA:276152
Addison Disease	Dry skin	ORPHA:85138
Noonan Syndrome 1	Dry skin, Chylothorax, Lymphedema	OMIM:163950
Ablepharon-Macrostomia Syndrome	Premature skin wrinkling, Dry skin, Redundant skin	OMIM:200110
Hypothyroidism, Congenital, Nongoitrous, 2	Dry skin	OMIM:218700
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Recurrent respiratory infections, Edema, Accessory oral frenulum, Cutis laxa, Wide mouth, Macrogl...	OMIM:266920
Kyphoscoliotic Ehlers-Danlos Syndrome	Poor wound healing, Hyperextensible skin, High palate, Thin skin, Follicular hyperkeratosis, Soft...	ORPHA:536545
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Lymphocytic interstitial pneumonia, Pneumonia, Abnormality of th...	ORPHA:2968
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Impulsivity, Aggressive behavior, Thickened skin, Epidermal thickening, Orthokeratotic hyperkerat...	ORPHA:73223
Duane Retraction Syndrome	Everted lower lip vermilion, Cleft palate, Webbed neck	ORPHA:233
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphol...	OMIM:181000
Scarf Syndrome	Webbed neck, Long philtrum, Enamel hypoplasia, Cutis laxa	OMIM:312830
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Recurrent upper respiratory tract inf...	ORPHA:293987
6Q Terminal Deletion Syndrome	Hyperkeratosis	ORPHA:75857
Nelson Syndrome	Secondary hypercortisolism, Increased circulating cortisol level, Hypokalemia, Striae distensae	ORPHA:199244
Lenz-Majewski Hyperostotic Dwarfism	Prominent scalp veins, Cutis marmorata, Abnormality of the dentition, Cleft palate, Cutis laxa, T...	OMIM:151050
Exercise-Induced Malignant Hyperthermia	Dry skin	ORPHA:466650
Biliary, Renal, Neurologic, And Skeletal Syndrome	Recurrent respiratory infections, Edema, Polyhydramnios, Asthma, Jaundice, Pulmonary arterial hyp...	OMIM:619534
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth, Xerostomia, Cl...	OMIM:604292
Wiedemann-Rautenstrauch Syndrome	Premature skin wrinkling, Dry skin	OMIM:264090
Trichorhinophalangeal Syndrome, Type Ii	Redundant skin in infancy, Dry skin, Cutis laxa	OMIM:150230
Feingold Syndrome 1	Thick vermilion border, Everted lower lip vermilion, High palate, Polyhydramnios	OMIM:164280
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Redundant neck skin, Tented upper lip vermilion, Miscarriage, Polyhydramnios, Pulmonary artery st...	ORPHA:96334
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Acral ulceration	OMIM:256840
Neuropathy, Hereditary Sensory And Autonomic, Type V	Acral ulceration	OMIM:608654
Intellectual Developmental Disorder, Autosomal Dominant 38	Downturned corners of mouth, Tented upper lip vermilion, High palate, Everted lower lip vermilion	OMIM:616393
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Everted lower lip vermilion, Pallor	OMIM:253280
Menke-Hennekam Syndrome 1	Thin upper lip vermilion, Everted upper lip vermilion, Deep philtrum, Recurrent upper respiratory...	OMIM:618332
Proteus Syndrome	Abnormal dental enamel morphology, Pulmonary embolism, Lymphedema, Carious teeth, Thickened skin,...	ORPHA:744
Aneurysm-Osteoarthritis Syndrome	Dental malocclusion, Cleft palate, High palate, Bruising susceptibility, Bifid uvula, Striae dist...	ORPHA:284984
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Pneumothorax, Redundant skin, Cutis laxa	OMIM:617403
Pallister-Killian Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Edema of the dorsum of feet, Tented upper li...	OMIM:601803
Cowden Syndrome	Palmoplantar keratoderma, Generalized hyperkeratosis	ORPHA:201
Keutel Syndrome	Sinusitis, Miscarriage, Recurrent bronchitis, Deep philtrum, Pulmonary artery hypoplasia, Emphyse...	OMIM:245150
Insensitivity To Pain, Congenital, With Anhidrosis	Acral ulceration, Poor wound healing	OMIM:256800
Viss Syndrome	Prominent superficial blood vessels, Polyhydramnios, High, narrow palate, Hyperextensible skin, H...	OMIM:619472
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Jaundice, Acral ulceration, Prolonged neonatal jaundice, Ascites	OMIM:256810
Specc1L-Related Hypertelorism Syndrome	Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, Advanced erup...	ORPHA:1519
Hereditary Sensory And Autonomic Neuropathy Type 4	Dry skin	ORPHA:642
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Deep philtrum, Everted lower lip vermilion, High palate	OMIM:613884
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Abnormality of the gingiva, Absent cupid's bow, Cleft palate, Widely...	ORPHA:513456
Carney Complex	Dorsocervical fat pad, Tongue nodules, Abnormal hard palate morphology, Bruising susceptibility, ...	ORPHA:1359
Mowat-Wilson Syndrome	Delayed eruption of teeth, Dental crowding, Pulmonary artery sling, Abnormal dental morphology, C...	ORPHA:2152
Periventricular Nodular Heterotopia 9	Everted upper lip vermilion, High palate, Gingival overgrowth, Hypoplastic philtrum	OMIM:618918
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Dry skin	ORPHA:99646
Split Cord Malformation	Penetrating foot ulcers, Hydromyelia	ORPHA:573278

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 Abca12

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 Abca12.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Topical Aminosalicylic Acid Improves Keratinocyte Differentiation in an Inducible Mouse Model of Harlequin Ichthyosis.	Cell reports. Medicine (November 2020)	Abca12^{tm1a(EUCOMM)Hmgu} EUCOMMAbca12^{tm1a(EUCOMM)Hmgu}	PMC7691394
ABCA12 regulates insulin secretion from β-cells.	EMBO reports (February 2020)	Abca12^{tm1e(EUCOMM)Hmgu}	PMC7054684

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
Abca12^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Abca12^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Abca12^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Abca12^em1(IMPC)J	Exon Deletion	Mice

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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Gene: Abca12 MGI:2676312

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Morphology Embryo E18.5

MicroCT E18.5

X-ray

Electroretinography 3

Combined SHIRPA and Dysmorphology

X-ray

X-ray

X-ray

Gross Morphology Placenta E18.5

Auditory Brain Stem Response

Electrocardiogram (ECG)

Human diseases caused by Abca12 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data