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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

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

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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.

Electroretinography 3

Fundus file

13 Images

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Gross Morphology Embryo E18.5

Images

4 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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MicroCT E18.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Gross Morphology Placenta E18.5

Images

4 Images

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Combined SHIRPA and Dysmorphology

Images

3 Images

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Electrocardiogram (ECG)

Waveform Image

15 Images

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Auditory Brain Stem Response

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

8 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 (1170 diseases)

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

Disease	Matching phenotypes	Source
Lamellar Ichthyosis	Dry skin, Ichthyosis, Lack of skin elasticity, Erythroderma, Pruritus, Hyperkeratosis, Dehydration	ORPHA:313
Harlequin Ichthyosis	Congenital ichthyosiform erythroderma, Ichthyosis, Erythroderma, Hyperkeratosis, Dehydration	ORPHA:457
Ichthyosis, Congenital, Autosomal Recessive 4B	Congenital ichthyosiform erythroderma, Everted lower lip vermilion, Death in infancy, Neonatal death	OMIM:242500
Congenital Ichthyosiform Erythroderma	Ichthyosis, Pruritus, Palmoplantar keratoderma, Erythroderma	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	Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat...	OMIM:148730
Ulerythema Ophryogenesis	Hyperkeratotic papule, Dry skin, Facial erythema, Follicular hyperkeratosis, Contact dermatitis, ...	ORPHA:3406
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ...	OMIM:613000
Palmoplantar Keratoderma, Norrbotten Recessive Type	Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
Ichthyosis, Congenital, Autosomal Recessive 13	Ichthyosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Hypergranulosis	OMIM:617574
Pruritic Urticarial Papules And Plaques Of Pregnancy	Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Striae distensae, Parakeratosis, Pal...	ORPHA:64745
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii	Acrokeratosis, Hyperkeratosis	OMIM:101850
Dermatoleukodystrophy	Thickened skin, Hyperkeratosis	ORPHA:1659
Peeling Skin Syndrome 6	Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus	OMIM:618084
Ichthyosis With Erythrokeratoderma	Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Diffuse palmoplantar h...	OMIM:620507
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis	ORPHA:737
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
Acquired Ichthyosis	Erythema, Palmoplantar keratoderma, Dry skin, Recurrent skin infections, Ichthyosis, Pruritus, Hy...	ORPHA:454
Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome	Palmoplantar keratoderma, Ichthyosis	ORPHA:281201
Palmoplantar Keratoderma, Punctate Type Ii	Spinous keratoses of palms and soles, Porokeratosis	OMIM:175860
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in fle...	OMIM:601952
Bazex Syndrome	Palmoplantar keratoderma, Parakeratosis, Acanthosis nigricans, Scaling skin, Pruritus, Hyperkerat...	ORPHA:166113
Aquagenic Palmoplantar Keratoderma	Atopic dermatitis, Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Palmar pruritus, Exce...	ORPHA:498359
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Parakeratosis, Hyperkerat...	OMIM:604117
White Sponge Nevus 2	Edema, Hyperparakeratosis	OMIM:615785
Huriez Syndrome	Dry skin, Palmoplantar keratoderma, Sclerodactyly, Lack of skin elasticity	ORPHA:384
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Infantile Digital Fibromatosis	Parakeratosis, Hyperkeratosis	ORPHA:199267
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Ichthyosis, Congenital, Autosomal Recessive 6	Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Erythroderma, Scaling skin, Ge...	OMIM:612281
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis, Pruritus, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis, Congenital nonbu...	OMIM:617571
Keratoderma Hereditarium Mutilans With Ichthyosis	Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis,...	ORPHA:79395
Psoriasis 2	Parakeratosis, Psoriasiform dermatitis, Hyperkeratosis, Scaling skin	OMIM:602723
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Palmoplantar hyperkeratosis, Hypergranulosis	OMIM:615598
Lamellar Ichthyosis	Dry skin, Ichthyosis, Lack of skin elasticity, Erythroderma, Pruritus, Hyperkeratosis, Dehydration	ORPHA:313
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus, Skin vesicle, Erythema migrans	ORPHA:158681
Hypotrichosis Simplex Of The Scalp	Atopic dermatitis, Parakeratosis, Scaling skin, Pruritus, Hyperkeratosis	ORPHA:90368
Palmoplantar Keratoderma And Congenital Alopecia 2	Dry skin, Facial erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Sclerodactyly	OMIM:212360
Vulvovaginal Gingival Syndrome	Parakeratosis, Pruritus, Erythema	ORPHA:83453
Erythrokeratodermia Variabilis Et Progressiva 5	Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617756
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis	OMIM:173200
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Ichthyosis, Congenital, Autosomal Recessive 10	Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Erythroderma, Generaliz...	OMIM:615024
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant...	OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Parakeratosis, Erythroderma, Congen...	OMIM:604777
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Atopic dermatitis, Erythema, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkerat...	ORPHA:530838
Ichthyosis, Annular Epidermolytic, 1	Erythema, Orthokeratosis, Hyperparakeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Scaling sk...	OMIM:607602
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Classic Mycosis Fungoides	Erythema, Eczematoid dermatitis, Skin ulcer, Dry skin, Skin rash, Pruritus, Hyperkeratosis, Edema	ORPHA:2584
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Erythema, Palmoplantar keratoderma, Ichthyosis, Parakeratosis, Pruritus, Hyperkeratosis	OMIM:615821
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Palmoplantar hyperkeratosis, H...	OMIM:300918
Ichthyosis Hystrix Of Curth-Macklin	Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyperkeratosis, Ichthyosis	ORPHA:79503
Erythrokeratodermia Variabilis Et Progressiva 4	Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr...	OMIM:617526
Bathing Suit Ichthyosis	Thickened skin, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Erythroderma, Scaling ski...	ORPHA:100976
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Psoriasiform lesion, Superficial dermal perivascula...	ORPHA:284426
Acral Self-Healing Collodion Baby	Erythema, Palmoplantar scaling skin, Lack of skin elasticity, Edema of the dorsum of hands, Edema...	ORPHA:281127
Recessive X-Linked Ichthyosis	Dry skin, Hyperkeratosis, Ichthyosis	ORPHA:461
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis	OMIM:131850
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Ichthyosis Vulgaris	Ichthyosis, Dry skin, Eczematoid dermatitis	OMIM:146700
Olmsted Syndrome 2	Palmoplantar keratoderma, Perioral hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Pr...	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, Fragile skin, Scaling skin	OMIM:146590
Olmsted Syndrome 1	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hyperparakeratosis, Periorifi...	OMIM:614594
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Palmoplantar keratoderma, Lack of skin elasticity	ORPHA:1366
Autosomal Dominant Epidermolytic Ichthyosis	Palmoplantar keratoderma, Skin ulcer, Ichthyosis, Erythroderma, Congenital bullous ichthyosiform ...	ORPHA:312
Ichthyosis, Congenital, Autosomal Recessive 1	Congenital ichthyosiform erythroderma, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Er...	OMIM:242300
Verrucous Hemangioma	Hyperkeratotic papule, Inflammatory abnormality of the skin	ORPHA:464318
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Parakeratosis, Hyperkeratosis	OMIM:618339
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Xerostomia, Dry skin, Ichthyosis, Parakeratosis, Acanthosis nigricans, Hyperkeratosis	OMIM:618527
Erythrokeratodermia Variabilis	Erythema, Dry skin, Patchy palmoplantar hyperkeratosis, Skin rash, Hyperkeratosis	ORPHA:317
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome	Dry skin, Ichthyosis	ORPHA:2271
C1Q Deficiency 2	Discoid lupus rash, Atelectasis, Malar rash, Chilblains, Oral ulcer, Facial erythema, Vasculitis ...	OMIM:620321
Mal De Meleda	Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Ichthyosis, Superficial...	ORPHA:87503
Superficial Epidermolytic Ichthyosis	Erythema, Palmoplantar keratoderma, Ichthyosis, Acantholysis, Edema	ORPHA:455
Dermatitis, Atopic	Atopic dermatitis, Eczematoid dermatitis, Dry skin, Pallor, Ichthyosis, Facial erythema, Pruritus...	OMIM:603165
Peeling Skin Syndrome 5	Hyperkeratosis, Scaling skin	OMIM:617115
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Generalized hyperkeratosis, Dry skin, Cutis laxa, Scaling skin, Generalized ichthyosis	ORPHA:2269
Atrophoderma Vermiculata	Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis, Erythema	ORPHA:79100
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Skin ulcer, Malar rash, Skin rash, Prur...	ORPHA:90280
Graham Little-Piccardi-Lassueur Syndrome	Pruritus, Perifollicular hyperkeratosis	ORPHA:505
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer	ORPHA:409
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Acne inversa, Chronic furunculosis, Perifolliculitis, Follicular hyperkeratosis, Recurrent cutane...	OMIM:613736
Elastosis Perforans Serpiginosa	Crusting erythematous dermatitis, Hyperkeratotic papule, Cutis laxa	ORPHA:79148
Parana Hard Skin Syndrome	Thickened skin, Hyperkeratosis	ORPHA:2812
Psoriasis 14, Pustular	Pustule, Parakeratosis, Psoriasiform dermatitis, Erythema	OMIM:614204
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Dry skin, Death in childhood, Ichthyosis, Scaling skin, Hyperkeratosis, Congenital nonb...	OMIM:614457
Familial Reactive Perforating Collagenosis	Hyperkeratotic papule, Inflammatory abnormality of the skin, Crusting erythematous dermatitis, Pe...	ORPHA:79147
Anonychia With Flexural Pigmentation	Follicular hyperkeratosis, Hyperkeratosis	ORPHA:69125
Diffuse Palmoplantar Keratoderma, Bothnian Type	Diffuse palmoplantar hyperkeratosis, Erythema, Pruritus, Skin ulcer	ORPHA:2337
Sjögren-Larsson Syndrome	Erythema, Hyperkeratosis, Ichthyosis, Dry skin	ORPHA:816
Erythrokeratodermia Variabilis Et Progressiva 1	Patchy palmoplantar hyperkeratosis, Erythroderma, Hypergranulosis, Generalized hyperkeratosis	OMIM:133200
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Dry skin, Follicular hyperkeratosis, Punctate palmoplantar hyperkeratosis, Scaling skin, Acanthol...	OMIM:616295
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Idiopathic Localized Lipodystrophy	Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Scleroderma,...	ORPHA:90158
Cutaneous Mastocytoma	Erythema, Thickened skin, Telangiectasia macularis eruptiva perstans, Dermatographic urticaria, A...	ORPHA:79455
Lipedema	Edema	OMIM:614103
Netherton Syndrome	Eczematoid dermatitis, Angioedema, Hypernatremic dehydration, Parakeratosis, Erythroderma, Recurr...	OMIM:256500
Amyloidosis, Primary Localized Cutaneous, 3	Dry skin, Pruritus	OMIM:617920
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Dermal translucency, Lymphedema, Nonimmune hydrops fetalis, Palpebral edema, Epidermal hyperkerat...	OMIM:137940
Congenital Lethal Erythroderma	Ichthyosis, Dry skin, Congenital exfoliative erythroderma, Death in infancy	ORPHA:1954
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Orthokeratosis, Dry skin, Ichthyosis, Parakeratosis, Pruritus	OMIM:607626
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Folliculitis, Palmoplantar keratoderma, Dry skin, Facial erythema, Follicular hyperkeratosis	OMIM:308800
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Palmar hyperkeratosis	ORPHA:79399
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis	ORPHA:89838
Ichthyosis, Annular Epidermolytic, 2	Erythema, Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Palmoplantar hyperkeratosis, Scal...	OMIM:620148
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Dry skin, Pruritus, Palmoplantar keratoderma, Eczematoid dermatitis	OMIM:618535
Lichen Planus Pemphigoides	Skin vesicle, Pruritus, Hyperkeratosis	ORPHA:254478
Ichthyosis, Congenital, Autosomal Recessive 8	Erythema, Orthokeratosis, Hypergranulosis, Ichthyosis, Hyperkeratosis	OMIM:613943
Schopf-Schulz-Passarge Syndrome	Dry skin, Palmoplantar keratoderma, Hyperkeratosis	OMIM:224750
Familial Benign Chronic Pemphigus	Erythema, Acantholysis, Hyperkeratosis, Skin vesicle	ORPHA:2841
Hypotrichosis 6	Erythema, Pruritus, Follicular hyperkeratosis	OMIM:607903
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Acral Peeling Skin Syndrome	Erythema, Eczematoid dermatitis, Excessive wrinkling of palmar skin, Ichthyosis, Scaling skin	ORPHA:263534
Progressive Symmetric Erythrokeratodermia	Erythema, Palmoplantar keratoderma	ORPHA:316
Netherton Syndrome	Eczematoid dermatitis, Emphysema, Dry skin, Ichthyosis, Skin rash, Acanthosis nigricans, Erythrod...	ORPHA:634
Congenital Disorder Of Glycosylation, Type Iq	Eczematoid dermatitis, Dry skin, Ichthyosis, Cutis laxa, Hyperkeratosis	OMIM:612379
Congenital Disorder Of Glycosylation, Type If	Dry skin, Death in infancy, Erythroderma, Scaling skin, Hyperkeratosis	OMIM:609180
Peeling Skin Syndrome 4	Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Scaling skin, Hyperkeratosis	OMIM:607936
Harlequin Ichthyosis	Congenital ichthyosiform erythroderma, Ichthyosis, Erythroderma, Hyperkeratosis, Dehydration	ORPHA:457
Epidermolytic Hyperkeratosis 1	Palmoplantar hyperkeratosis, Erythroderma, Scaling skin, Epidermal acanthosis, Congenital bullous...	OMIM:113800
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis	OMIM:618546
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin, Abnormal elasticity of skin, Follicular hyperkeratosis	ORPHA:486815
Peeling Skin Syndrome 3	Erythema, White scaling skin, Pruritus	OMIM:616265
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperke...	ORPHA:2199
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Palmoplantar keratoderma, Focal friction-related palmoplantar hyperkera...	ORPHA:2200
Lymphatic Malformation 4	Hyperkeratosis, Pedal edema, Lymphedema	OMIM:615907
Ledderhose Disease	Lack of skin elasticity	ORPHA:199251
Sézary Syndrome	Palmoplantar keratoderma, Dry skin, Erythroderma, Pruritus, Edema	ORPHA:3162
Costello Syndrome	Redundant skin, Lack of skin elasticity, Acanthosis nigricans, Polyhydramnios, Hyperkeratosis	ORPHA:3071
Erythrokeratodermia Variabilis Et Progressiva 2	Erythema, Palmoplantar keratoderma	OMIM:617524
Pemphigus Foliaceus	Abnormal oral mucosa morphology, Erythema, Psoriasiform dermatitis, Oral ulcer, Crusting erythema...	ORPHA:79481
Erythrokeratodermia Variabilis Et Progressiva 3	Erythema, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Hyperkeratosis	OMIM:617525
Chromomycosis	Hyperkeratotic papule, Predominantly lower limb lymphedema, Hyperparakeratosis, Lymphedema, Pruri...	ORPHA:182
Vibratory Urticaria	Facial erythema, Dermatographic urticaria, Flushing, Urticaria	OMIM:125630
Acrokeratosis Verruciformis	Acrokeratosis, Acantholysis, Hyperkeratosis, Punctate palmoplantar hyperkeratosis	OMIM:101900
Darier Disease	Thickened skin, Palmoplantar keratoderma, Subungual hyperkeratotic fragments, Skin vesicle, Acrok...	ORPHA:218
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Thickened skin, Palmoplantar keratoderma, Lack of skin elasticity	ORPHA:1979
Reticular Dysgenesis	Skin rash, Recurrent respiratory infections, Skin ulcer, Dehydration	ORPHA:33355
Mastocytosis, Cutaneous	Erythema, Telangiectasia macularis eruptiva perstans, Edema, Urticaria	OMIM:154800
Pili Torti-Onychodysplasia Syndrome	Dry skin, Generalized keratosis follicularis, Palmoplantar keratoderma, Eczematoid dermatitis	ORPHA:2890
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Palmoplantar keratoderma, Palmoplantar scaling skin, Death in early adulthood, Death in adolescen...	OMIM:605676
Congenital Disorder Of Glycosylation, Type Im	Inflammatory abnormality of the skin, Dry skin, Ichthyosis, Death in infancy, Hyperkeratosis	OMIM:610768
Antisynthetase Syndrome	Xerostomia, Pruritus, Skin rash, Lack of skin elasticity, Telangiectasia of the skin, Abnormal pu...	ORPHA:81
Irida Syndrome	Hyperkeratosis, Ichthyosis, Pallor	ORPHA:209981
Palmoplantar Keratoderma, Epidermolytic, 1	Plantar hyperkeratosis, Localized epidermolytic hyperkeratosis, Palmoplantar hyperkeratosis, Palm...	OMIM:144200
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Erythema, Abnormality of the dentition, Carious teeth, Palmoplan...	ORPHA:659
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Soft, doughy skin, Blepharochalasis, Redundant skin, Hyperextensible skin, Dermal translucency, G...	OMIM:225410
Cutaneous Small Vessel Vasculitis	Erythema, Cutis marmorata, Skin rash, Abnormal oral cavity morphology, Recurrent skin infections,...	ORPHA:889
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Pruritus, Scaling skin	OMIM:105250
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Primary Erythromelalgia	Erythema, Recurrent respiratory infections, Pruritus	ORPHA:90026
Lichen Planopilaris	Pruritus, Hyperkeratosis, Skin ulcer	ORPHA:525
Hydroa Vacciniforme	Papulovesicular eruption, Erythema, Eczematoid dermatitis, Malar rash, Hydroa vacciniforme, Super...	ORPHA:330058
Jessner Lymphocytic Infiltration Of The Skin	Erythema, Pruritus, Cutaneous photosensitivity	ORPHA:33314
Neonatal Lupus Erythematosus	Malar rash, Skin rash, Parakeratosis, Maculopapular exanthema, Hyperkeratosis	ORPHA:398124
Keratosis Palmoplantaris Striata Ii	Abnormality of the dentition, Epidermal acanthosis, Palmoplantar keratoderma	OMIM:612908
Sydenham Chorea	Erythema, Recurrent streptococcus pneumoniae infections	ORPHA:306731
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Skin vesicle, Acantholysis, Pr...	ORPHA:555905
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl...	ORPHA:79126
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Abnormality of the dentition, Skin ulcer, Atelectasis, Delayed eruption of teeth, Generalized abn...	ORPHA:2314
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis	OMIM:615225
Prolidase Deficiency	Erythema, Carious teeth, Palmoplantar keratoderma, Skin ulcer, Dry skin, Cutaneous photosensitivi...	ORPHA:742
Familial Cold Autoinflammatory Syndrome 3	Erythema, Dermatographic urticaria, Cold urticaria, Angioedema, Recurrent sinopulmonary infection...	OMIM:614468
Lymphatic Malformation 12	Fetal ascites, Lymphedema, Nonimmune hydrops fetalis, Neonatal death, Death in adolescence, Polyh...	OMIM:620014
Amelo-Onycho-Hypohidrotic Syndrome	Dry skin, Hyperkeratosis	ORPHA:1028
Chronic Mucocutaneous Candidiasis	Erythema, Skin ulcer, Abnormal lip morphology, Abnormal dental enamel morphology, Skin rash, Prur...	ORPHA:1334
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Leopard Syndrome 3	Dry skin, Hyperkeratosis, Epidermal hyperkeratosis	OMIM:613707
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Facial erythema, Stomatitis	OMIM:618307
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis, Hyperkeratosis	OMIM:610227
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer, Thickened skin	ORPHA:31112
Werner Syndrome	Subcutaneous calcification, Skin ulcer, Neoplasm of the oral cavity, Premature graying of hair, L...	ORPHA:902
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Interstitial pneumonitis, Telangiectasia, Scali...	ORPHA:454831
Ichthyosis, Hystrix-Like, With Deafness	Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosi...	OMIM:602540
Immunodeficiency 58	Recurrent upper respiratory tract infections, Recurrent pneumonia, Cold urticaria, Eczematoid der...	OMIM:618131
Cutaneous Photosensitivity And Colitis, Lethal	Erythema, Early cutaneous photosensitivity, Death in infancy	OMIM:219095
Mal De Meleda	Ichthyosis, Congenital symmetrical palmoplantar keratosis, Perioral erythema	OMIM:248300
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis	OMIM:300455
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g...	ORPHA:2302
Ichthyosis With Confetti	Ichthyosis, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Pruritus, Congenital nonbull...	OMIM:609165
Pityriasis Rubra Pilaris	Thickened skin, Subungual hyperkeratosis, Palmoplantar keratoderma, Eczematoid dermatitis, Ichthy...	ORPHA:2897
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosifo...	OMIM:606545
Meige Disease	Facial edema, Predominantly lower limb lymphedema, Skin ulcer, Lymphedema, Cobblestone-like hyper...	ORPHA:90186
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:619466
Erythema Of Acral Regions	Erythema, Abnormality of the dentition	OMIM:227000
Lipoid Proteinosis Of Urbach And Wiethe	Thickened skin, Hyperkeratosis	OMIM:247100
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Recurrent bronchiolitis, Pustule, Polyhydramnios, Epidermal acanthosis, Dehy...	OMIM:616069
Pressure-Induced Localized Lipoatrophy	Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue	ORPHA:90160
Erosive Pustular Dermatosis Of The Scalp	Pustule, Erythema	ORPHA:222
Quinquaud Folliculitis Decalvans	Pustule, Erythema, Recurrent skin infections	ORPHA:346
Diffuse Cutaneous Mastocytosis	Thickened skin, Dermatographic urticaria, Generalized abnormality of skin, Flushing, Erythroderma...	ORPHA:79456
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis	ORPHA:89843
Cutaneous Collagenous Vasculopathy	Erythema, Bruising susceptibility, Vascular skin abnormality, Petechiae, Skin rash, Diffuse telan...	ORPHA:280779
Anonychia With Flexural Pigmentation	Dry skin	OMIM:106750
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hypergranulosis, Erythroderma, Hyperkeratosis, Congenital nonbullous ichthyosifor...	OMIM:615023
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Facial edema, Erythema, Angioedema, Tongue edema, Laryngeal edema, Palpebral edema, Pharyngeal ed...	ORPHA:100057
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti...	OMIM:616726
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Plantar hyperkeratosis, Pruritus	OMIM:616487
Panniculitis-Induced Localized Lipodystrophy	Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Vasculitis i...	ORPHA:90159
Tooth Agenesis, Selective, 8	Dry skin	OMIM:617073
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Bronchiectasis, Atelectasis	OMIM:615294
Ichthyosis Prematurity Syndrome	Follicular hyperkeratosis, Erythroderma, Polyhydramnios, Generalized ichthyosis, Pruritus	OMIM:608649
Acute Generalized Exanthematous Pustulosis	Facial edema, Predominantly dermal neutrophilic infiltrate, Pustule, Eosinophilic dermal infiltra...	ORPHA:293173
Polyarteritis Nodosa	Erythema, Skin ulcer, Cutis marmorata, Abnormal lung morphology, Pleuritis	ORPHA:767
Angioma Serpiginosum	Erythema, Vascular skin abnormality	ORPHA:95429
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Dermal translucency, Hyperextensible skin	OMIM:619120
Erythema Nodosum, Familial	Erythema, Erythema nodosum	OMIM:132990
Phenylketonuria	Dry skin, Eczematoid dermatitis, Scleroderma	OMIM:261600
Ichthyosis, Congenital, Autosomal Recessive 2	Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Hypergranulosis, Evert...	OMIM:242100
Transgrediens Et Progrediens Palmoplantar Keratoderma	Thickened skin, Diffuse palmoplantar hyperkeratosis, Angular cheilitis, Recurrent cutaneous funga...	ORPHA:495
Cole Disease	Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Punctate palmop...	OMIM:615522
Stiff Skin Syndrome	Thickened skin, Lack of skin elasticity	ORPHA:2833
Macs Syndrome	Eclabion, Bruising susceptibility, Long philtrum, Recurrent aphthous stomatitis, Gingival overgro...	OMIM:613075
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Edema, Atelectasis	OMIM:267450
Dowling-Degos Disease	Hyperkeratotic papule, Acne inversa, Skin vesicle, Pruritus, Hyperkeratosis	ORPHA:79145
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Palmoplantar hyperkerat...	OMIM:148700
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Telangiectasia, Crusting erythematous dermatitis, Palmoplantar hyperkeratosis, Fragile ...	ORPHA:158673
Orthostatic Hypotensive Disorder, Streeten Type	Facial erythema, Bruising susceptibility	OMIM:143850
Leri Pleonosteosis	Thickened skin, Lack of skin elasticity	ORPHA:2900
Moynahan Syndrome	Hyperkeratosis	ORPHA:2574
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Atelectasis, Generalized abnormality of skin, Parenchymal consolidation, Pleur...	ORPHA:2902
Aicardi-Goutieres Syndrome 5	Dry skin, Chilblains, Scaling skin	OMIM:612952
Dowling-Degos Disease 4	Epidermal acanthosis, Pruritus, Hypergranulosis	OMIM:615696
Maculopapular Cutaneous Mastocytosis	Erythema, Dermatographic urticaria, Generalized abnormality of skin, Darier's sign, Pruritus, Flu...	ORPHA:79457
Grubben-De Cock-Borghgraef Syndrome	Dry skin, Eczematoid dermatitis	ORPHA:2101
Palmoplantar Keratoderma And Congenital Alopecia 1	Plantar hyperkeratosis, Palmoplantar erythema, Palmoplantar keratoderma, Epidermal hyperkeratosis	OMIM:104100
Pruritic Urticarial Papules And Plaques Of Pregnancy	Striae distensae	OMIM:178995
Striae Distensae, Familial	Striae distensae	OMIM:185200
Cutis Laxa, Autosomal Recessive, Type Iib	Bruising susceptibility, Long philtrum, Intrauterine growth retardation, Redundant skin, Excessiv...	OMIM:612940
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Darier-White Disease	Subungual hyperkeratotic fragments, Acantholysis, Pruritus, Acrokeratosis	OMIM:124200
Neu-Laxova Syndrome	Bifid uvula, Intrauterine growth retardation, Ichthyosis, Submucous cleft hard palate, Lack of sk...	ORPHA:2671
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Psoriasiform lesion, Malar rash, Hyperkeratosis	ORPHA:163525
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:615872
Woolly Hair-Skin Fragility Syndrome	Acantholysis, Palmoplantar keratoderma	OMIM:620415
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Thyrotropin-Releasing Hormone Deficiency	Dry skin	OMIM:275120
Dermatitis Herpetiformis	Dental enamel pits, Erythema, Delayed eruption of teeth, Eczematoid dermatitis, Erosion of oral m...	ORPHA:1656
Chronic Hiccup	Abnormal eating behavior, Dehydration	ORPHA:396
Classic Phenylketonuria	Self-injurious behavior, Eczematoid dermatitis, Tremor, Lack of skin elasticity, Attention defici...	ORPHA:79254
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Dermal translucency	ORPHA:529965
Familial Cold Urticaria	Erythema, Pruritus, Dehydration, Urticaria	ORPHA:47045
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Dermal translucency, Hyperextensible skin	OMIM:619115
Night Blindness, Congenital Stationary, Type 1C	Dry skin	OMIM:613216
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome	Dry skin	OMIM:218650
Autoinflammation With Arthritis And Dyskeratosis	Dry skin, Palmoplantar hyperkeratosis, Follicular hyperkeratosis	OMIM:617388
Keratolytic Winter Erythema	Pustule, Erythema	ORPHA:50943
Glutamine Deficiency, Congenital	Thin vermilion border, Erythema, Recurrent respiratory infections, Neonatal death	OMIM:610015
Myotubular Myopathy With Abnormal Genital Development	Atelectasis, Death in infancy, Neonatal death, Polyhydramnios, High palate	OMIM:300219
Uv-Sensitive Syndrome 3	Dry skin	OMIM:614640
Keratolytic Winter Erythema	Erythema	OMIM:148370
Mhc Class I Deficiency 1	Nasal polyposis, Bronchiolitis, Skin ulcer, Emphysema, Recurrent bronchitis, Bronchiectasis	OMIM:604571
Bronchopulmonary Dysplasia	Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis	ORPHA:70589
Noonan Syndrome 8	Eczematoid dermatitis, Pleural effusion, Hyperextensible skin, Palmoplantar cutis laxa, Polyhydra...	OMIM:615355
Pierpont Syndrome	Widely spaced teeth, Excessive wrinkling of palmar skin, Thin upper lip vermilion, Smooth philtru...	ORPHA:487825
Ectodermal Dysplasia/Skin Fragility Syndrome	Ectodermal dysplasia, Palmoplantar hyperkeratosis, Fragile skin, Scaling skin	OMIM:604536
Ichthyosis, Congenital, Autosomal Recessive 7	Ichthyosis, Palmoplantar keratoderma, Erythroderma, Hypergranulosis	OMIM:615022
Ectodermal Dysplasia-Skin Fragility Syndrome	Abnormality of the dentition, Recurrent pneumonia, Carious teeth, Palmoplantar keratoderma, Chapp...	ORPHA:158668
Ataxia-Photosensitivity-Short Stature Syndrome	Dry skin	ORPHA:1184
Congenital Disorder Of Glycosylation, Type Iil	Dry skin, Hyperkeratosis, Death in infancy, Peau d'orange	OMIM:614576
Lipoid Proteinosis	Abnormal oral mucosa morphology, Thickened skin, Nasal polyposis, Microglossia, Acne, Thick lower...	ORPHA:530
Pilarowski-Bjornsson Syndrome	Dermal translucency	OMIM:617682
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Soft, doughy skin, Dermal translucency, Oligohydramnios, Hyperextensible skin	ORPHA:541423
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:79159
Acrokeratosis Verruciformis Of Hopf	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	ORPHA:79151
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Ascites, Intrauterine growth retardation, Open mouth, Petechiae, Nar...	OMIM:608013
Acrokeratoelastoidosis Of Costa	Hyperkeratotic papule, Palmoplantar hyperkeratosis, Orthokeratosis, Hypergranulosis	ORPHA:38
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Eczematoid dermatitis, Psoriasiform dermatitis, Pulmonary infiltrates, Erythroderma, Scaling skin...	OMIM:606367
Keratoderma Hereditarium Mutilans	Hyperkeratosis, Ichthyosis, Honeycomb palmoplantar hyperkeratosis	ORPHA:494
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Erythema, Orthokeratosis, Congenital ichthyosiform erythroderma, Parakeratosis, Stillbirth, Hyper...	OMIM:308050
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Meconium Aspiration Syndrome	Atelectasis, Transient pulmonary infiltrates, Aspiration pneumonia, Intrauterine growth retardati...	ORPHA:70588
Bullous Impetigo	Pustule, Erythema, Recurrent bacterial skin infections	ORPHA:36237
Ectodermal Dysplasia-Syndactyly Syndrome 2	Follicular hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma	OMIM:613576
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Follicular hyperkeratosis, Hyperextensible skin	ORPHA:300179
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Uv-Sensitive Syndrome 1	Dry skin	OMIM:600630
Dermoodontodysplasia	Dry skin	OMIM:125640
Drug-Induced Localized Lipodystrophy	Erythema, Reduced subcutaneous adipose tissue	ORPHA:90157
Necrobiosis Lipoidica	Erythema, Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia of the skin, Fragile skin	ORPHA:542592
Hypohidrotic Ectodermal Dysplasia	Xerostomia, Hyperkeratosis, Eczematoid dermatitis, Dry skin	ORPHA:238468
Recon Progeroid Syndrome	Dental crowding, Progeroid facial appearance, Dry skin, Cutaneous photosensitivity, Smooth philtr...	OMIM:620370
Odontoonychodermal Dysplasia	Erythema, Orthokeratosis, Smooth tongue, Widely spaced primary teeth, Hypergranulosis, Dry skin, ...	OMIM:257980
Rothmund-Thomson Syndrome, Type 1	Hyperkeratosis	OMIM:618625
Centrifugal Lipodystrophy	Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Lack of faci...	ORPHA:90156
Infant Acute Respiratory Distress Syndrome	Pneumonia, Atelectasis, Cyanosis, Respiratory tract infection, Pulmonary edema	ORPHA:70587
Pseudoxanthoma Elasticum	Bruising susceptibility, Striae distensae, Skin rash, Hyperextensible skin, Excessive wrinkled sk...	ORPHA:758
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema	Erythema migrans	OMIM:609352
Erythema Palmare Hereditarium	Erythema	OMIM:133000
Hailey-Hailey Disease	Erythema	OMIM:169600
Annular Erythema	Erythema	OMIM:106500
X-Linked Dominant Chondrodysplasia Punctata	Ichthyosis, Erythroderma, Scaling skin, Abnormal lung morphology, High palate	ORPHA:35173
Flynn-Aird Syndrome	Hyperkeratosis	OMIM:136300
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Dry skin, Palmoplantar keratoderma, Scaling skin	OMIM:618373
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Dental crowding, Telangiectasia of the skin, Narrow mouth, Lack of skin elasticity	OMIM:615381
Bullous Pemphigoid	Erythema, Eczematoid dermatitis, Psoriasiform dermatitis, Oral mucosal blisters, Pruritus, Urticaria	ORPHA:703
Keratosis Pilaris Atrophicans	Erythema	OMIM:604093
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Psoriasiform dermatitis, Ichthyosis, E...	OMIM:615508
Diabetes Mellitus, Transient Neonatal, 1	Intrauterine growth retardation, Dehydration	OMIM:601410
Cutis Laxa, Autosomal Dominant 3	Dermal translucency, Cutis laxa, Premature skin wrinkling	OMIM:616603
Milroy Disease	Predominantly lower limb lymphedema, Erysipelas, Lymphedema, Hyperkeratosis, Pedal edema	ORPHA:79452
Waardenburg Syndrome Type 3	Acrocyanosis, Tented upper lip vermilion, Atelectasis	ORPHA:896
Hereditary Sensory And Autonomic Neuropathy Type 1	Hyperkeratosis, Skin ulcer, Penetrating foot ulcers	ORPHA:36386
Autosomal Erythropoietic Protoporphyria	Erythema, Eczematoid dermatitis, Pruritus, Cutaneous photosensitivity, Edema	ORPHA:79278
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Cutis laxa	OMIM:614100
Singleton-Merten Syndrome 2	Psoriasiform lesion, Hyperkeratosis	OMIM:616298
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Death in infancy, Dehydration	OMIM:251850
Ehlers-Danlos Syndrome, Classic Type, 2	Bruising susceptibility, Soft, doughy skin, Hyperextensible skin, Recurrent sinusitis, Fragile sk...	OMIM:130010
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Emphysema, Intrauterine growth retarda...	ORPHA:90349
Familial Nasal Acilia	Abnormal respiratory motile cilium morphology, Recurrent upper respiratory tract infections, Bron...	ORPHA:922
Variegate Porphyria, Childhood-Onset	Atopic dermatitis, Epidermal hyperkeratosis	OMIM:620483
Hereditary Acrokeratotic Poikiloderma	Gingival bleeding, Erythema, Abnormality of the dentition, Thin skin, Xerostomia, Skin ulcer, Ora...	ORPHA:2907
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Abnormal dental morphology, Palmoplantar keratoderma, Everted lower lip vermilion, Urticaria	ORPHA:2251
Granulomatous Slack Skin	Erythema, Cutis laxa, Redundant skin	ORPHA:33111
Cutis Laxa-Marfanoid Syndrome	Emphysema, Redundant skin	ORPHA:171719
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Pulmonary fibrosis	ORPHA:254361
Kid Syndrome	Abnormality of the dentition, Folliculitis, Palmoplantar keratoderma, Congenital ichthyosiform er...	ORPHA:477
Cutis Laxa, Autosomal Recessive, Type Ic	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Progeroid facial appearance, Atelectas...	OMIM:613177
Cerebrooculofacioskeletal Syndrome 1	Recurrent pneumonia, Carious teeth, Delayed eruption of teeth, Long philtrum, Death in childhood,...	OMIM:214150
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous abscess, D...	OMIM:618282
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Dermal translucency, Cutis laxa, Hyperextensible skin, Soft skin	OMIM:615349
Mycosis Fungoides	Erythema, Psoriasiform dermatitis, Eczematoid dermatitis, Pruritus	OMIM:254400
8Q22.1 Microdeletion Syndrome	Abnormality of the dentition, Long philtrum, Submucous cleft hard palate, Lack of skin elasticity	ORPHA:178303
Trichothiodystrophy 1, Photosensitive	Dry skin, Death in infancy, Erythroderma, Hyperkeratosis, Congenital nonbullous ichthyosiform ery...	OMIM:601675
Mpdu1-Cdg	Thin vermilion border, Eczematoid dermatitis, Ichthyosis, Scaling skin	ORPHA:79323
Omenn Syndrome	Thickened skin, Dry skin, Erythroderma, Pruritus, Edema	ORPHA:39041
Fountain Syndrome	Facial edema, Erythema, Thick lower lip vermilion, Cutis marmorata, Gingival overgrowth, Hyperext...	ORPHA:3219
Aplasia Cutis Congenita	Erythema, Skin ulcer	ORPHA:1114
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Ground-glass opacification, Cystic pattern on pulmonary HRCT, Parenchymal consolidat...	OMIM:610978
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Dystonia, Dehydration, Methylmalonic acidemia	ORPHA:289504
Naegeli-Franceschetti-Jadassohn Syndrome	Dry skin, Subungual hyperkeratosis, Palmoplantar hyperkeratosis, Punctate palmoplantar hyperkerat...	ORPHA:69087
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p...	ORPHA:2357
Protoporphyria, Erythropoietic, 1	Erythema, Pruritus, Eczematoid dermatitis, Edema	OMIM:177000
Sting-Associated Vasculopathy, Infantile-Onset	Erythema, Pustular rash, Cutis marmorata, Malar rash, Skin rash, Telangiectasia, Pustule, Livedo ...	OMIM:615934
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Dry skin, Acanthosis nigricans	ORPHA:3085
Renal Hypodysplasia/Aplasia 2	Redundant skin, Pulmonary hypoplasia	OMIM:615721
Tempi Syndrome	Ascites, Transudative pleural effusion, Abnormality of the pulmonary vasculature, Telangiectasia,...	ORPHA:284227
Kanzaki Disease	Dry skin, Hyperkeratosis, Petechiae, Lymphedema	OMIM:609242
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Hyperkeratotic papule, Pruritus, Skin vesicle	ORPHA:79410
Growth Delay Due To Insulin-Like Growth Factor I Resistance	Thin vermilion border, Smooth philtrum, Intrauterine growth retardation, Everted lower lip vermilion	ORPHA:73273
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Oral ulcer, Pulmonary infiltrates, Scaling skin,...	ORPHA:39812
Cutis Laxa, Autosomal Recessive, Type Iiib	Dermal translucency, Cutis laxa, Excessive wrinkled skin	OMIM:614438
Chromosome 15Q14 Deletion Syndrome	Cleft lip, Tented upper lip vermilion, Recurrent viral upper respiratory tract infections, Everte...	OMIM:616898
Drug Reaction With Eosinophilia And Systemic Symptoms	Erythema, Angioedema, Interstitial pneumonitis, Skin rash, Pulmonary infiltrates, Pustule, Erythr...	ORPHA:139402
Bone Marrow Failure Syndrome 4	Dry skin, Eczematoid dermatitis	OMIM:618116
Cleft Palate-Lateral Synechia Syndrome	Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia	ORPHA:2016
Riddle Syndrome	Dry skin	OMIM:611943
Peeling Skin Syndrome 1	Pruritus, Erythroderma, Scaling skin	OMIM:270300
Nicolaides-Baraitser Syndrome	High, narrow palate, Eczematoid dermatitis, Long philtrum, Excessive wrinkled skin, Smooth philtr...	ORPHA:3051
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Bruising susceptibility, Striae distensae, Petechiae, Hyperextensible skin, Thin skin	OMIM:225310
Chilblain Lupus 1	Chilblains, Cutaneous photosensitivity, Skin ulcer	OMIM:610448
Man1B1-Cdg	Eclabion, Thin upper lip vermilion, Smooth philtrum, Cutis laxa, Thick vermilion border, Short ph...	ORPHA:397941
Limited Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Pulmonary fibrosis, Skin ulcer, Mucosal telangiectasiae	ORPHA:220402
Rhizomelic Chondrodysplasia Punctata	Dry skin, Ichthyosis	ORPHA:177
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar hyperkeratosis, Palmoplantar keratoderma	ORPHA:2698
Complex Regional Pain Syndrome	Erythema, Dry skin, Edema of the upper limbs, Pedal edema	ORPHA:83452
Ehlers-Danlos Syndrome, Hypermobility Type	Striae distensae, Hyperextensible skin, Soft skin	OMIM:130020
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Pemphigus Erythematosus	Acantholysis, Malar rash	ORPHA:79480
14Q11.2 Microdeletion Syndrome	Long philtrum, Narrow mouth, Exaggerated cupid's bow, Deep philtrum, Everted lower lip vermilion,...	ORPHA:261120
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum, Chronic furunculosis, Cutaneous abscess	OMIM:619986
Hennekam-Beemer Syndrome	Pneumonia, Erythema, Thickened skin, Thick lower lip vermilion, Skin vesicle, Telangiectasia of t...	ORPHA:2135
Diarrhea 4, Malabsorptive, Congenital	Dehydration	OMIM:610370
Proteus Syndrome	Hyperkeratosis	OMIM:176920
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Baralle-Macken Syndrome	Striae distensae, Acanthosis nigricans	OMIM:619255
Lactase Deficiency, Congenital	Dehydration	OMIM:223000
Immunodeficiency 114, Folate-Responsive	Atopic dermatitis, Carious teeth, Skin ulcer, Lip fissure, Aphthous ulcer, Recurrent lower respir...	OMIM:620603
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Lymphedema	ORPHA:79279
Combined Oxidative Phosphorylation Deficiency 47	Intrauterine growth retardation, Dysphagia, Dehydration	OMIM:618958
Restrictive Dermopathy 1	Thin skin, Natal tooth, Epidermal hyperkeratosis, Intrauterine growth retardation, Oligohydramnio...	OMIM:275210
Chand Syndrome	Atelectasis, Dry skin, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid tong...	ORPHA:1401
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Erythema, Bronchiolitis, Interstitial pneumonitis, Recurrent sinopulmonary infections	OMIM:614878
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Dentinogenesis imperfecta, Carious teeth, Thin skin, Bruising susceptibility, Atelectasis, Long p...	ORPHA:536467
Autosomal Agammaglobulinemia	Skin rash, High palate, Recurrent respiratory infections, Recurrent skin infections, Bronchiectas...	ORPHA:33110
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Skin ulcer, Recurrent sinusitis, Recurrent respiratory infections, ...	ORPHA:217390
Combined Malonic And Methylmalonic Aciduria	Dehydration	OMIM:614265
Recurrent Respiratory Papillomatosis	Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel...	ORPHA:60032
Atelis Syndrome 1	Dry skin, Eczematoid dermatitis	OMIM:620184
Cofs Syndrome	Intrauterine growth retardation, Cutaneous photosensitivity, Everted lower lip vermilion, Death i...	ORPHA:1466
Dracunculiasis	Skin rash, Recurrent cutaneous abscess formation, Pruritus, Skin ulcer	ORPHA:231
Central Diabetes Insipidus	Hyponatremia, Polydipsia, Dehydration, Anorexia	ORPHA:178029
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections	ORPHA:3348
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormality of the dentition, Progeroid facial appearance, Lack of skin elasticity, High palate, ...	ORPHA:90153
Ichthyosis, Congenital, Autosomal Recessive 11	Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma	OMIM:602400
Ramon Syndrome	Hyperkeratosis	ORPHA:3019
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Hypotrichosis And Recurrent Skin Vesicles	Skin vesicle, Follicular hyperkeratosis	OMIM:613102
Riddle Syndrome	Pneumonia, Erythema, Recurrent pneumonia, Bronchitis, Recurrent sinusitis, Telangiectasia, Conjun...	ORPHA:420741
Fixed Drug Eruption	Erythema, Generalized abnormality of skin, Oral ulcer, Crusting erythematous dermatitis, Stomatitis	ORPHA:293812
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b...	ORPHA:2025
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hyperammonemia, Anorexia, Dystonia, Choreoathetosis, Dehydration	ORPHA:79312
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent upper respiratory tract infections, Psoriasiform lesion, Oral ulcer, Erythroderma, Recu...	ORPHA:169154
Spinocerebellar Ataxia Type 34	Dry skin	ORPHA:1955
Rosaï-Dorfman Disease	Erythema	ORPHA:158014
Snakebite Envenomation	Gingival bleeding, Erythema, Angioedema, Ecchymosis, Edema	ORPHA:449285
Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly	Dry skin	OMIM:600906
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Hyperkeratotic papule, Plantar hyperkeratosis, Palmar hyperkeratosis	ORPHA:79397
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Erythema, Long philtrum, Dry skin, Intrauterine growth retardation, Cerebral edema, Eclabion, Con...	OMIM:620510
Mitochondrial Complex I Deficiency, Nuclear Type 35	Intrauterine growth retardation, Redundant neck skin, Neonatal death, Nonimmune hydrops fetalis, ...	OMIM:619003
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Dry skin	ORPHA:248
Transient Neonatal Diabetes Mellitus	Macroglossia, Intrauterine growth retardation, Dehydration	ORPHA:99886
Arthrogryposis And Ectodermal Dysplasia	Dry skin, Hyperkeratosis	OMIM:601701
Restrictive Dermopathy	Generalized hyperkeratosis, Scaling skin, Polyhydramnios, Dermal translucency, Epidermal hyperker...	ORPHA:1662
Warburg-Cinotti Syndrome	Erythema, Dental crowding, Poor wound healing, Gingival overgrowth, Joint swelling, Pneumothorax,...	OMIM:618175
Juvenile Hyaline Fibromatosis	Gingival fibromatosis, Gingival overgrowth, Skin ulcer, Death in infancy	ORPHA:2028
Lujo Hemorrhagic Fever	Facial edema, Generalized edema, Atelectasis, Skin rash, Ecchymosis, Periorbital edema, Cerebral ...	ORPHA:319213
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis	ORPHA:1573
Free Sialic Acid Storage Disease	Ascites, Recurrent respiratory infections, Hydrops fetalis, Skin ulcer	ORPHA:834
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Folliculitis, Palmoplantar keratoderma, Facial erythema, Enamel hypoplasia	OMIM:612843
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Thickened skin, Chylothorax, Skin ulcer, Long philtrum, Lymphedema, Erysipelas, Dry skin, Pleural...	ORPHA:2526
Warty Dyskeratoma	Acrokeratosis, Acantholysis, Epidermal thickening	ORPHA:69745
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Dry skin, Acanthosis nigricans	OMIM:268020
Hypothyroidism, Congenital, Nongoitrous, 6	Dry skin	OMIM:614450
Bacterial Toxic-Shock Syndrome	Pneumonia, Respiratory tract infection, Skin rash, Ecchymosis, Scaling skin, Recurrent skin infec...	ORPHA:36234
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Erythema, Eczematoid dermatitis, Redundant skin, Seborrheic dermatitis, Palmoplantar hyperkeratos...	OMIM:259100
Trichothiodystrophy 6, Nonphotosensitive	Dry skin, Ichthyosis	OMIM:616943
Intellectual Developmental Disorder, X-Linked 19	Dental crowding, Everted lower lip vermilion, Thick lower lip vermilion	OMIM:300844
Elastoderma	Cutis laxa, Eczematoid dermatitis, Erysipelas, Premature skin wrinkling	ORPHA:228240
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Pleural effu...	OMIM:620233
Epidermolysis Bullosa, Lethal Acantholytic	Acantholysis, Neonatal death	OMIM:609638
Cardiofaciocutaneous Syndrome	Palmoplantar keratoderma, Lymphedema, Dry skin, Redundant skin, Ichthyosis, Excessive wrinkled sk...	ORPHA:1340
Rheumatic Fever	Erythema, Abnormal pleura morphology, Pallor, Recurrent pharyngitis	ORPHA:3099
Pemphigus Vulgaris	Acantholysis, Recurrent cutaneous abscess formation	ORPHA:704
Isolated Agammaglobulinemia	Pneumonia, Skin ulcer, Skin rash, Recurrent respiratory infections, Recurrent cutaneous abscess f...	ORPHA:229717
Maxillonasal Dysplasia	Tooth agenesis, Open bite, Striae distensae, Microdontia, Cleft palate	ORPHA:1248
Acrogeria	Skin ulcer, Excessive wrinkled skin, Telangiectasia of the skin, Prematurely aged appearance, Thi...	ORPHA:2500
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero...	OMIM:610600
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Conical tooth, Everted upper lip vermilion, Periorbital wrinkles, Oligodontia, Anodontia, Hypodon...	OMIM:224900
Vitamin B12-Responsive Methylmalonic Acidemia	Hyperammonemia, Dehydration	ORPHA:28
Attenuated Chédiak-Higashi Syndrome	Gingival bleeding, Recurrent respiratory infections, Bruising susceptibility, Skin ulcer	ORPHA:352723
Congenital Syphilis	Pneumonia, Intrauterine growth retardation, Palmoplantar scaling skin, Petechiae, Maculopapular e...	ORPHA:499009
Syndromic Recessive X-Linked Ichthyosis	Hyperkeratosis, Ichthyosis	ORPHA:281090
Intellectual Developmental Disorder, Autosomal Dominant 62	Striae distensae	OMIM:618793
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Dry skin	OMIM:129490
Mitral Valve Prolapse 1	High, narrow palate, Striae distensae, High palate	OMIM:157700
Hypothyroidism, Congenital, Nongoitrous, 4	Dry skin	OMIM:275100
Pierpont Syndrome	Widely spaced teeth, Prominent median palatal raphe, Smooth philtrum, Everted lower lip vermilion...	OMIM:602342
Juvenile Dermatomyositis	Erythema, Skin ulcer, Pruritus, Dry skin, Skin rash, Telangiectasia of the skin, Palpebral edema,...	ORPHA:93672
Autosomal Dominant Prognathism	Open bite, Everted lower lip vermilion	ORPHA:2964
Dermatomyositis	Erythema, Skin ulcer, V-sign, Heliotrope rash, Pruritus, Dry skin, Acrocyanosis, Cutaneous photos...	ORPHA:221
Fibromuscular Dysplasia, Multifocal	Soft, doughy skin, Striae distensae, Hyperextensible skin, Dermal translucency, Soft skin	OMIM:619329
De Barsy Syndrome	Dermal translucency, Cutis laxa, Excessive wrinkled skin	ORPHA:2962
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Thick lower lip vermilion, Persistence of primary teeth, Open mouth, Short philt...	OMIM:618342
Atypical Werner Syndrome	Subcutaneous calcification, Skin ulcer, Progeroid facial appearance, Neoplasm of the oral cavity,...	ORPHA:79474
Cdkl5-Deficiency Disorder	Deep philtrum, Everted lower lip vermilion, Thick vermilion border	ORPHA:505652
Hatipoglu Immunodeficiency Syndrome	Atopic dermatitis, Thickened skin, Eczematoid dermatitis, Dry skin, Petechiae	OMIM:620331
Hemihyperplasia-Multiple Lipomatosis Syndrome	Seborrheic dermatitis, Hyperparakeratosis	ORPHA:276280
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent pneumonia, Recurrent sinusitis, Recurrent sinopulmonary infections, Pyoderma gangrenosu...	OMIM:616576
Immunodeficiency 23	Erythema, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Molluscum contagiosum, High p...	OMIM:615816
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Conical tooth, Xerostomia, Periorbital wrinkles, Dry skin, Hypodontia, Ectodermal dysplasia, Ever...	OMIM:614941
Short-Rib Thoracic Dysplasia 12	Natal tooth, Lobulated tongue, Atelectasis, Ascites, Hamartoma of tongue, Intrauterine growth ret...	OMIM:269860
Microcephalic Primordial Dwarfism, Montreal Type	Dry skin	ORPHA:2617
Primary Ciliary Dyskinesia	Nasal polyposis, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Peribronchov...	ORPHA:244
Prolidase Deficiency	Recurrent pneumonia, Skin ulcer, Eczematoid dermatitis, Petechiae, Crusting erythematous dermatit...	OMIM:170100
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Orthokeratosis, Eczematoid dermatitis, Acne inversa	OMIM:617337
Dermoodontodysplasia	Dry skin	ORPHA:1660
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Recurrent upper respiratory tract infections, Hydromyelia, Subungual hyp...	OMIM:308205
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Oligodontia, Everted lower lip vermilion, Anodontia	ORPHA:276630
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Thin upper lip vermilion, Short philtrum, Wide mouth, Everted lower lip vermilion	ORPHA:2429
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Dry skin, Acanthosis nigricans	OMIM:262190
Hidrotic Ectodermal Dysplasia	Hyperkeratotic papule, Thickened skin, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis,...	ORPHA:189
Congenital Heart Defects And Ectodermal Dysplasia	Dry skin	OMIM:617364
Neonatal Inflammatory Skin And Bowel Disease	Erythema, Chapped lip, Generalized abnormality of skin, Psoriasiform dermatitis, Pustule, Scaling...	ORPHA:294023
Hypodontia-Dysplasia Of Nails Syndrome	Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee...	ORPHA:2228
De Sanctis-Cacchione Syndrome	Parakeratosis	OMIM:278800
Pituitary Adenoma 4, Acth-Secreting	Poor wound healing, Bruising susceptibility, Striae distensae, Ecchymosis, Facial erythema, Purpu...	OMIM:219090
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Edema, Abnormal circulating protein concentration, Abnormal circulating polysacc...	ORPHA:103910
Ectodermal Dysplasia/Short Stature Syndrome	Palmoplantar keratoderma, Hyperkeratosis	OMIM:616029
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of the dentition, Recurrent respiratory infections, Hyperkeratosis, Skin ulcer	ORPHA:1806
Progeroid Syndrome, Petty Type	Tooth agenesis, Intrauterine growth retardation, Redundant skin, Reduced subcutaneous adipose tis...	ORPHA:2963
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Palmoplantar keratoderma, Dry skin, Facial erythema, Scaling skin, Sclerodactyly	ORPHA:1010
Familial Cervical Artery Dissection	Striae distensae, Thin skin	ORPHA:36382
Developmental And Epileptic Encephalopathy 23	Short philtrum, Everted lower lip vermilion, Thick vermilion border	OMIM:615859
Xeroderma Pigmentosum Variant	Dry skin	ORPHA:90342
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Dermal translucency	OMIM:618343
Loeys-Dietz Syndrome 4	High, narrow palate, Bifid uvula, Broad uvula, Bruising susceptibility, Emphysema, Striae distens...	OMIM:614816
Beta-Mercaptolactate Cysteine Disulfiduria	Dry skin	ORPHA:1035
Interstitial Granulomatous Dermatitis With Arthritis	Erythema, Inflammatory abnormality of the skin, Pruritus	ORPHA:79099
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Open bite, Open mouth, Everted lower lip vermilion, Taurodontia, Th...	ORPHA:534
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Hyperkeratosis, Death in childhood	OMIM:301108
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Thyroid Dyshormonogenesis 1	Dry skin	OMIM:274400
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Polyhydramnios, Dermal translucency	OMIM:617506
Adult-Onset Still Disease	Erythema, Interstitial pneumonitis, Skin rash, Joint swelling, Pruritus, Pleuritis	ORPHA:829
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Tooth Agenesis, Selective, 4	Dry skin, Palmar hyperkeratosis	OMIM:150400
Ciliary Dyskinesia, Primary, 1	Pneumonia, Nasal polyposis, Atelectasis, Recurrent bronchitis, Bronchiectasis, Absent outer dynei...	OMIM:244400
Familial Melanoma	Dry skin	ORPHA:618
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Subcutaneous hemorrhage, Purpura, Skin ulcer, Thin skin	ORPHA:743
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hyperkeratosis	ORPHA:1883
Acrodermatitis Enteropathica	Erythema, Skin ulcer, Generalized abnormality of skin, Dry skin, Furrowed tongue, Pustule, Glossi...	ORPHA:37
Proliferating Trichilemmal Cyst	Skin ulcer	ORPHA:492
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperaldosteronism, Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level	OMIM:620126
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Dry skin, Eczematoid dermatitis	OMIM:620191
Monilethrix	Follicular hyperkeratosis	ORPHA:573
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Dry skin	ORPHA:95715
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating corticosterone level, Hyperka...	ORPHA:556030
Trichothiodystrophy 3, Photosensitive	Carious teeth, Natal tooth, Congenital ichthyosiform erythroderma, Intrauterine growth retardatio...	OMIM:616395
Adiposis Dolorosa	Dry skin, Recurrent skin infections, Xerostomia	ORPHA:36397
Hereditary Mucoepithelial Dysplasia	Furrowed tongue, Gingival overgrowth, Recurrent respiratory infections, Pulmonary fibrosis, Hyper...	ORPHA:1839
Poikiloderma With Neutropenia	Recurrent pneumonia, Carious teeth, Palmoplantar keratoderma, Long philtrum, Skin rash, Recurrent...	OMIM:604173
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperaldosteronism, Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level	OMIM:620125
Farber Disease	Recurrent upper respiratory tract infections, Atelectasis, Ascites, Nodular pattern on pulmonary ...	ORPHA:333
Ichthyosis, Congenital, Autosomal Recessive 4B	Congenital ichthyosiform erythroderma, Everted lower lip vermilion, Death in infancy, Neonatal death	OMIM:242500
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Dry skin	OMIM:620502
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Reduced subcutaneous adipose tissue, Thin upper lip vermilion, Short philtrum, Everted lower lip ...	ORPHA:3041
Immunodeficiency 55	Ichthyosis, Dry skin, Recurrent skin infections, Eczematoid dermatitis	OMIM:617827
Barber-Say Syndrome	Dry skin, Dermal translucency, Redundant skin, Premature skin wrinkling	OMIM:209885
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Recurrent respiratory infections, Dehydration	OMIM:264350
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pneumonia, Recurrent pneumonia, Psoriasiform lesion, Recurrent sinusitis, Erythema nodosum, Recur...	OMIM:614700
Toxic Epidermal Necrolysis	Erythema, Skin ulcer, Acantholysis, Abnormal pleura morphology, Recurrent respiratory infections	ORPHA:537
Trichodysplasia-Xeroderma Syndrome	Dry skin	ORPHA:3361
Developmental And Epileptic Encephalopathy 88	Everted lower lip vermilion	OMIM:618959
Buerger Disease	Livedo reticularis, Acrocyanosis, Skin ulcer	ORPHA:36258
Non-Distal Duplication 10Q	High palate, Everted lower lip vermilion	ORPHA:1695
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Recurrent aphthous stomatitis, Pyoderma gangrenosum, Bronchiectasis, Chronic...	OMIM:150550
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Emphysema, Respiratory tract infection, Chronic bronchitis, Diffuse r...	ORPHA:79127
Ddost-Cdg	Dry skin	ORPHA:300536
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Joint swelling, Skin rash, Pustule, Epidermal acanthosis, Pulmonary fibrosis, Hyperkeratosis, Sto...	OMIM:612852
Weill-Marchesani Syndrome 2	Tooth malposition, Thickened skin, Striae distensae, Abnormal dental morphology, Lack of skin ela...	OMIM:608328
Linear Verrucous Nevus Syndrome	Hyperkeratosis	ORPHA:2611
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Erythroderma, Perioral erythema, Perianal erythema	OMIM:614328
Liang-Wang Syndrome	Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Gingiv...	OMIM:618729
Vitamin B12-Unresponsive Methylmalonic Acidemia	Choreoathetosis, Hyperammonemia, Dehydration	ORPHA:27
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Hyperammonemia, Dehydration, Elevated circulating ...	OMIM:212140
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis	OMIM:615279
Chime Syndrome	Erythema, Abnormality of the dentition, Skin ulcer, Abnormal dental morphology, Ichthyosis, Micro...	ORPHA:3474
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Diffuse Cutaneous Systemic Sclerosis	Carious teeth, Xerostomia, Skin ulcer, Pulmonary infiltrates, Telangiectasia of the skin, Pulmona...	ORPHA:220393
X-Linked Agammaglobulinemia	Recurrent pneumonia, Skin ulcer, Skin rash, Abnormal lung morphology, Glossoptosis, Recurrent cut...	ORPHA:47
Leopard Syndrome 2	Dry skin	OMIM:611554
Propionic Acidemia	Eczematoid dermatitis, Hyperglycinemia, Hyperammonemia, Dystonia, Dehydration	OMIM:606054
Immunoglobulin A Vasculitis	Erythema, Skin ulcer, Angioedema, Vascular skin abnormality, Bruising susceptibility, Skin rash, ...	ORPHA:761
Sarcoidosis, Susceptibility To, 2	Emphysema, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Erythema nodosum, Abnormal pulm...	OMIM:612387
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Lymphedema, Emphysema, Ascites, Pulmonary lymphangiomyomatosis, Pulmona...	ORPHA:538
Generalized Pseudohypoaldosteronism Type 1	Atopic dermatitis, Glucocortocoid-insensitive primary hyperaldosteronism, Pustule, Hyponatremia, ...	ORPHA:171876
Kcnq2-Related Epileptic Encephalopathy	Cerebral edema, Facial erythema, Pallor	ORPHA:439218
Reynolds Syndrome	Xerostomia, Skin ulcer, Generalized abnormality of skin, Ascites, Skin rash, Telangiectasia of th...	ORPHA:779
Cutis Laxa, Autosomal Dominant 1	Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial appearance, Long philt...	OMIM:123700
Cataract-Intellectual Disability-Hypogonadism Syndrome	Tooth malposition, Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum, Pre...	ORPHA:1387
Noonan Syndrome 5	Polyhydramnios, Dry skin	OMIM:611553
Cutis Laxa, Autosomal Recessive, Type Ib	Oligohydramnios, Death in childhood, Neonatal death, Cutis laxa, Dermal translucency, Soft skin	OMIM:614437
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Dermal translucency	OMIM:612199
Cutis Laxa, Autosomal Recessive, Type Ia	Peripheral pulmonary artery stenosis, Poor wound healing, Emphysema, Oligohydramnios, Redundant s...	OMIM:219100
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperaldosteronism, Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level	OMIM:177735
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Cutis laxa, Redundant skin, Increased number of skin folds	ORPHA:436274
Corneodermatoosseous Syndrome	Erythema, Thickened skin, Carious teeth, Palmoplantar keratoderma, Abnormal dental enamel morphol...	ORPHA:3194
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Long philtrum	OMIM:619595
Beta-Ketothiolase Deficiency	Edema, Pallor, Hyperammonemia, Hyperuricemia, Oral aversion, Agitation, Anorexia, Dehydration	ORPHA:134
Monilethrix	Perifollicular hyperkeratosis	OMIM:158000
Cholera	Palmoplantar cutis laxa, Miscarriage, Dehydration, Aspiration pneumonia	ORPHA:173
Secondary Short Bowel Syndrome	Polyphagia, Low plasma citrulline, Steatorrhea, Abnormal blood ion concentration, Dehydration	ORPHA:95427
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Dehydration, Neonatal death	OMIM:602199
Neutrophilic Dermatosis, Acute Febrile	Pyoderma gangrenosum, Erythema, Cystic acne, Acne inversa	OMIM:608068
Autosomal Dominant Cutis Laxa	Premature skin wrinkling, Redundant skin, Redundant neck skin, Increased number of skin folds, Hy...	ORPHA:90348
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Eczematoid dermatitis, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis, Se...	ORPHA:83617
Methylmalonyl-Coa Epimerase Deficiency	Elevated circulating palmitoleylcarnitine concentration, Hyperhomocystinemia, Dehydration	OMIM:251120
Bachmann-Bupp Syndrome	Polyhydramnios, Dry skin	OMIM:619075
Uremic Pruritus	Pruritus, Inflammatory abnormality of the skin, Recurrent skin infections, Dry skin	ORPHA:94059
Geleophysic Dysplasia 1	Thickened skin, Long philtrum, Lack of skin elasticity, Thin upper lip vermilion, Smooth philtrum...	OMIM:231050
Pachyonychia Congenita 3	Palmoplantar keratoderma, Chapped lip, Follicular hyperkeratosis, Palmar hyperkeratosis, Plantar ...	OMIM:615726
Agel Amyloidosis	Xerostomia, Dry skin, Blepharochalasis, Cutis laxa, Pruritus, Edema	ORPHA:85448
Kawasaki Disease	Strawberry tongue, Lip fissure, Skin rash, Recurrent pharyngitis, Palmoplantar erythema, Jaundice...	ORPHA:2331
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dry skin	OMIM:618010
Fusariosis	Pneumonia, Bronchiectasis, Skin ulcer, Ground-glass opacification, Pleural effusion, Parenchymal ...	ORPHA:228119
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis, Death in infancy	ORPHA:163966
Refsum Disease	Dry skin, Ichthyosis	ORPHA:773
Xeroderma Pigmentosum, Complementation Group F	Erythema, Cutaneous photosensitivity	OMIM:278760
Porphyria Cutanea Tarda	Poor wound healing, Cutaneous abscess, Fragile skin, Scaling skin, Cutaneous photosensitivity, Re...	ORPHA:101330
Focal Dermal Hypoplasia	Erythema, Abnormality of the dentition, Tooth agenesis, Open bite, Abnormal dental enamel morphol...	ORPHA:2092
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Periodontitis, Recurrent aphthous stomatitis, Oral ulcer, Gingivitis, Recurrent sinopu...	ORPHA:486
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Recurrent aphthous stomatitis, Purpura, Acrocyanosis, Urticaria	ORPHA:343
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t...	ORPHA:60033
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Oligohydramnios, Ichthyosis, Death in infancy, Conjugated hyperbilirubinemia, Dehydration	OMIM:208085
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Striae distensae, Macroglossia, Wide mouth, Thick lower lip vermilion	OMIM:300354
Radio-Tartaglia Syndrome	High, narrow palate, Dental crowding, Long philtrum, Dry skin, Striae distensae, Thin upper lip v...	OMIM:619312
Sunct Syndrome	Facial edema, Palpebral edema, Facial erythema, Flushing	ORPHA:57145
Stevens-Johnson Syndrome	Erythema, Abnormal pleura morphology, Acantholysis, Recurrent respiratory infections	ORPHA:36426
Hidrotic Ectodermal Dysplasia, Halal Type	Follicular hyperkeratosis	ORPHA:1809
Angioedema, Hereditary, 1	Erythema, Angioedema, Laryngeal edema, Intestinal edema, Periorbital edema, Pharyngeal edema	OMIM:106100
Naxos Disease	Subungual hyperkeratosis, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Acanthol...	OMIM:601214
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Dry skin	OMIM:300860
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Open mouth, Tented upper lip vermilion, Thin upper lip vermilion, Short philtrum, Everted lower l...	OMIM:616579
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Acral ulceration, Skin ulcer	ORPHA:139578
Incontinentia Pigmenti	Erythema, Skin ulcer, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dent...	ORPHA:464
Subcorneal Pustular Dermatosis	Pustule, Erythema, Pruritus	ORPHA:48377
Nicolaides-Baraitser Syndrome	High, narrow palate, Eczematoid dermatitis, Periorbital wrinkles, Premature skin wrinkling, Long ...	OMIM:601358
Xeroderma Pigmentosum	Erythema, Thickened skin, Abnormality of the dentition, Dry skin, Cutaneous photosensitivity, Tel...	ORPHA:910
Pyruvate Carboxylase Deficiency	Abnormal temper tantrums, Neonatal hyperbilirubinemia, Dehydration, Recurrent hand flapping, Hype...	ORPHA:3008
Aarskog-Scott Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Cleft upper lip, Hyperext...	ORPHA:915
Lethal Acantholytic Erosive Disorder	Acantholysis, Oligohydramnios	ORPHA:158687
Peroxisome Biogenesis Disorder 14B	Dry skin	OMIM:614920
Wells Syndrome	Skin vesicle, Edema	ORPHA:901
Loeys-Dietz Syndrome 6	Dermal translucency, Striae distensae, Soft skin	OMIM:619656
Fontaine Progeroid Syndrome	Premature skin wrinkling, Oligohydramnios, Redundant skin, Death in infancy, Neonatal death, Derm...	OMIM:612289
Distal Duplication 6P	Dry skin	ORPHA:1745
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Long philtrum, Gingival overgrowth, Open ...	ORPHA:420561
Congenital Short Bowel Syndrome	Steatorrhea, Dehydration	OMIM:615237
Ogden Syndrome	High, narrow palate, Pulmonary artery stenosis, Cutis laxa, Everted upper lip vermilion	ORPHA:276432
Lig4 Syndrome	Thin vermilion border, Erythema, Telangiectasia of the skin, Cutaneous photosensitivity	ORPHA:99812
Familial Renal Glucosuria	Dehydration	ORPHA:69076
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent pneumonia, Eczematoid dermatitis, Atelectasis, Ascites, Pleural eff...	OMIM:306400
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Death in adolescence, Death in childhood, Dehydration	OMIM:560000
Severe Intellectual Disability And Progressive Spastic Paraplegia	Short philtrum, High palate, Wide mouth, Everted upper lip vermilion	ORPHA:280763
Cystinosis	Polydipsia, Hypokalemia, Hypophosphatemia, Motor stereotypy, Dehydration	ORPHA:213
Hypercalcemia, Infantile, 1	Hypercalcemia, Dehydration	OMIM:143880
Squamous Cell Carcinoma Of The Anal Canal	Skin ulcer, Neoplasm of the lung	ORPHA:424019
Aicardi-Goutieres Syndrome 1	Erythema, Petechiae, Chilblains, Purpura, Prolonged neonatal jaundice, Acrocyanosis	OMIM:225750
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Macroglossia, Atelectasis, Open mouth, Protruding tongue, Cerebral edema, Recurrent lower respira...	ORPHA:258
Infantile Myofibromatosis	Gingival fibromatosis, Skin ulcer, Neoplasm of the lung	ORPHA:2591
Jung Syndrome	Dry skin	ORPHA:2321
Ifap Syndrome 2	Ichthyosis follicularis, Angular cheilitis, Perioral erythema	OMIM:619016
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Bifid uvula, Cleft lip, Downturned corners of mouth, Long philtrum, Narrow mouth, Everted lower l...	OMIM:618089
Basan Syndrome	Epidermal acanthosis, Ectodermal dysplasia, Palmoplantar keratoderma	OMIM:129200
Tyrosinemia Type 2	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:28378
Cranioectodermal Dysplasia 3	Peripheral pulmonary artery stenosis, Widely spaced teeth, Dry skin, Cutis laxa, Ectodermal dyspl...	OMIM:614099
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Narrow palate, Atelectasis, Tented upper lip vermilion, Smooth philtrum, Everted lower lip vermil...	OMIM:620371
Noonan Syndrome 10	Webbed neck, Increased nuchal translucency, Pleural effusion, Hyperextensible skin, Palmoplantar ...	OMIM:616564
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Everted lower lip vermilion	OMIM:278200
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion	OMIM:618773
Incontinentia Pigmenti	Erythema, Conical tooth, Delayed eruption of teeth, Pallor, Oligodontia, Hypodontia, Maculopapula...	OMIM:308300
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Webbed neck, Long philtrum, Thin upper lip vermilion, Everted lower lip vermilion, High palate	OMIM:616549
Hengel-Maroofian-Schols Syndrome	Tooth malposition, Widely spaced teeth, Open mouth, Everted lower lip vermilion, Thick vermilion ...	OMIM:619641
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Dehydration	OMIM:602722
Noonan Syndrome 13	Dry skin, Lymphedema	OMIM:619087
Chronic Graft Versus Host Disease	Erythema, Thickened skin, Xerostomia, Skin ulcer, Poor wound healing, Ascites, Pleural effusion, ...	ORPHA:99921
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	High, narrow palate, Eclabion, Downturned corners of mouth, Widely spaced teeth, Ankyloglossia, C...	OMIM:619950
Microscopic Polyangiitis	Erythema, Skin ulcer, Subcutaneous hemorrhage, Cutis marmorata, Skin rash	ORPHA:727
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Death in childhood, Dehydration	OMIM:246450
Enteric Anendocrinosis	Dehydration	ORPHA:83620
Developmental And Epileptic Encephalopathy 66	Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te...	OMIM:618067
Pulmonary Edema Of Mountaineers, Susceptibility To	Pulmonary edema, Edema	OMIM:178400
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level	OMIM:203400
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Webbed neck, Peripheral pulmonary artery stenosis, Cleft lip, Delayed eruption of teeth, Widely s...	OMIM:280000
Rapp-Hodgkin Syndrome	Dry skin, Palmoplantar keratoderma	OMIM:129400
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Hypercholesterolemia, Hypertriglyceridem...	OMIM:610644
Myoectodermal Gonadal Dysgenesis Syndrome	Long philtrum, Dry skin, Hypodontia, Smooth philtrum, Scaling skin, Thin vermilion border	OMIM:618419
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Abnormal oral mucosa morphology, Conical tooth, Thin skin, Everted upper lip vermilion, Periorbit...	OMIM:305100
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Short philtrum, Everted lower lip vermilion, Long philtrum	OMIM:619556
Coffin-Lowry Syndrome	Narrow palate, Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth, Abnorma...	ORPHA:192
Familial Tumoral Calcinosis	Erythema, Abnormality of the dentition, Skin rash, Abnormal palate morphology, Gingivitis, Abnorm...	ORPHA:53715
Axenfeld-Rieger Syndrome	Hypodontia, Redundant skin, Everted lower lip vermilion, Microdontia	ORPHA:782
Rothmund-Thomson Syndrome Type 2	Facial edema, Erythema, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, P...	ORPHA:221016
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Skin ulcer, Nasal mucosa vasculitis, Oral ulcer, Pulmonary infiltrat...	OMIM:608710
Shigellosis	Pneumonia, Purpura, Dehydration, Urticaria	ORPHA:810
Mass Syndrome	Striae distensae	OMIM:604308
Punctate Palmoplantar Keratoderma Type 1	Hyperkeratotic papule, Abnormal epidermal morphology, Orthokeratosis, Palmoplantar keratoderma, H...	ORPHA:79501
Kindler Epidermolysis Bullosa	Erythema, Carious teeth, Palmoplantar keratoderma, Periodontitis, Abnormal dental enamel morpholo...	ORPHA:2908
Cranioectodermal Dysplasia	Abnormality of the dentition, Abnormal dental enamel morphology, Microdontia, Taurodontia, Hypodo...	ORPHA:1515
Nodular Non-Suppurative Panniculitis	Erythema, Edema	ORPHA:33577
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Erythema, Bruising susceptibility, Erysipelas, Skin rash, Recurrent pharyngitis, Periorbital edem...	ORPHA:32960
Koolen-De Vries Syndrome	High, narrow palate, Abnormality of the dentition, Abnormal dental enamel morphology, Dry skin, I...	ORPHA:96169
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Short philtrum, Everted lower lip vermilion, Abnormal spaced incisors, Thick vermilion border	ORPHA:411986
German Syndrome	Lymphedema, Open mouth, Orofacial cleft, Everted lower lip vermilion, High palate	ORPHA:2077
Kikuchi-Fujimoto Disease	Erythema, Palpebral edema, Malar rash, Pleural effusion, Enlargement of parotid gland, Oral ulcer...	ORPHA:50918
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Paroti...	ORPHA:51636
8Q12 Microduplication Syndrome	Narrow mouth, Everted lower lip vermilion, Long philtrum	ORPHA:228399
3-Methylglutaconic Aciduria, Type Viib	Intrauterine growth retardation, Tremor, Opisthotonus, Polyhydramnios, Dystonia, Choreoathetosis,...	OMIM:616271
Relapsing Polychondritis	Erythema, Recurrent aphthous stomatitis, Purpura, Atelectasis	ORPHA:728
Tangier Disease	Dry skin	OMIM:205400
Mednik Syndrome	Erythema, Ichthyosis, Death in infancy, Death in childhood, Neonatal death	OMIM:609313
Rat-Bite Fever	Parotitis, Morbilliform rash, Skin rash, Pustule, Erythema nodosum, Scaling skin, Maculopapular e...	ORPHA:31205
Localized Scleroderma	Erythema, Abnormality of the dentition, Thickened skin, Dental malocclusion, Abnormal upper lip m...	ORPHA:90289
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Erythema, Palmoplantar keratoderma, Smooth tongue, Generalized abnormality of skin, Oral mucosal ...	ORPHA:79396
Diarrhea 1, Secretory Chloride, Congenital	Hyperaldosteronism, Hyponatremia, Hypokalemia, Polyhydramnios, Hypochloremia, Dehydration, Increa...	OMIM:214700
Tetrasomy 12P	Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,...	ORPHA:884
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Downturned corners of mouth, Long philtrum, Open mouth, Narrow mouth, Tented upper lip vermilion,...	OMIM:619720
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Dry skin	ORPHA:226313
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Pulmonary artery stenosis, Intrauterine growth retardation, Everted lower lip vermilion, Long phi...	ORPHA:75389
Eec Syndrome	Xerostomia, Hyperkeratosis, Dry skin	ORPHA:1896
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Panacinar emphysema, Chronic bronchitis	OMIM:613490
Familial Mediterranean Fever	Erythema, Oral leukoplakia, Erysipelas, Ascites, Skin rash, Pleuritis, Pedal edema	ORPHA:342
Ehlers-Danlos Syndrome, Classic-Like, 1	Poor wound healing, Bruising susceptibility, Striae distensae, Hyperextensible skin, Soft skin	OMIM:606408
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Hi...	OMIM:619736
Chronic Granulomatous Disease	Eczematoid dermatitis, Skin ulcer, Gingivitis, Recurrent respiratory infections, Cutaneous photos...	ORPHA:379
Pachyonychia Congenita	Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar keratoderma, Follicular h...	ORPHA:2309
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Cerebral edema, Death in childhood, Skin rash, Erythema	OMIM:618321
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Oligohydramnios, Dehydration, Pulmonary hypoplasia	OMIM:263200
Proteasome-Associated Autoinflammatory Syndrome 4	Erythema, Edema	OMIM:619183
Hallermann-Streiff Syndrome	High, narrow palate, Narrow palate, Recurrent pneumonia, Natal tooth, Dental malocclusion, Select...	OMIM:234100
Aicardi-Goutieres Syndrome 9	Ascites, Dry skin, Chilblains, Pericardial effusion, Edema	OMIM:619487
Isovaleric Acidemia	Dehydration	OMIM:243500
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Chikungunya	Facial edema, Erythema, Gingival bleeding, Joint swelling, Petechiae, Skin rash, Crusting erythem...	ORPHA:324625
Scholte Syndrome	Everted lower lip vermilion, Reduced subcutaneous adipose tissue	OMIM:300977
Kleefstra Syndrome 2	Bifid uvula, Everted lower lip vermilion	OMIM:617768
Bloom Syndrome	Facial telangiectasia in butterfly midface distribution, Recurrent upper respiratory tract infect...	OMIM:210900
Hydroxykynureninuria	Dry skin	ORPHA:79155
Infantile Systemic Hyalinosis	Thickened skin, Skin ulcer, Lymphedema, Abnormal dental morphology, Gingival overgrowth, Telangie...	ORPHA:2176
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hyperglycinemia, Hyperammonemia, Dehydration, Methylmalonic acidemia	OMIM:251000
22Q11.2 Deletion Syndrome	Acne, Abnormality of the dentition, Carious teeth, Atelectasis, Abnormal lung lobation, Abnormal ...	ORPHA:567
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies	High, narrow palate, Long philtrum, Everted lower lip vermilion, Thick vermilion border, Short ph...	OMIM:619880
Atkin-Flaitz Syndrome	Abnormality of the dentition, Maxillary lateral incisor microdontia, Everted lower lip vermilion,...	ORPHA:1193
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency	Cutis laxa, Redundant skin	ORPHA:91135
Sialidosis Type 1	Hyperkeratosis	ORPHA:812
Mesoaxial Hexadactyly And Cardiac Malformation	Everted lower lip vermilion	OMIM:249670
Squalene Synthase Deficiency	Dry skin	OMIM:618156
X-Linked Hypohidrotic Ectodermal Dysplasia	Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia	ORPHA:181
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Dry skin, Oligodontia, Hypodontia, Everted lower lip vermilion, Hypohidrotic ectodermal dysplasia	OMIM:614940
Allergic Bronchopulmonary Aspergillosis	Emphysema, Bronchiectasis	ORPHA:1164
Oculocutaneous Albinism Type 1A	Thickened skin, Hyperkeratosis	ORPHA:79431
Zygomycosis	Unusual skin infection, Atelectasis, Pleural effusion, Parenchymal consolidation, Pulmonary infil...	ORPHA:73263
Brooke-Spiegler Syndrome	Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo...	ORPHA:79493
Mycetoma	Cobblestone-like hyperkeratosis, Recurrent bacterial skin infections	ORPHA:2583
Leishmaniasis	Abnormal oral mucosa morphology, Abnormal oral cavity morphology, Pallor, Skin ulcer	ORPHA:507
Xfe Progeroid Syndrome	Ascites, Dry skin, Death in adolescence	OMIM:610965
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Dehydration	OMIM:300200
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Long philtrum, Thick lower lip vermilion, Tented upper lip vermilion, Thin upper lip vermilion, S...	OMIM:620075
Pearson Marrow-Pancreas Syndrome	Erythema, Hyperbilirubinemia, Pallor, Death in childhood, Anorexia, Steatorrhea, Hydrops fetalis,...	OMIM:557000
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Downturned corners of mouth, Long philtrum, Thick lower lip vermilion, Gingival overgrowth, Open ...	OMIM:220500
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Dry skin, Cleft soft palate, Narrow mouth, Reduced subcutaneous adipose tissue, High pa...	OMIM:619503
Intellectual Developmental Disorder, Autosomal Recessive 35	Thin upper lip vermilion, Everted lower lip vermilion, Long philtrum, Downturned corners of mouth	OMIM:615162
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Delayed eruption of teeth, Premature skin wrinkling, Impacted tooth, Ankylogloss...	ORPHA:740
Non-Distal Duplication 13Q	Abnormality of the dentition, Long philtrum, Everted lower lip vermilion, Thin vermilion border, ...	ORPHA:1702
Congenital Disorder Of Glycosylation, Type Iir	Ascites, Cutis laxa	OMIM:301045
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Ichthyosis, Hyperkeratosis, Recurrent bacterial skin infections	OMIM:148210
Agammaglobulinemia 8B, Autosomal Recessive	Short philtrum, Recurrent pneumonia, Everted upper lip vermilion	OMIM:619824
Hypocomplementemic Urticarial Vasculitis	Angioedema, Emphysema, Ascites, Pleural effusion, Skin rash, Pericardial effusion, Pruritus	ORPHA:36412
Ehlers-Danlos Syndrome, Periodontal Type, 1	Gingival bleeding, Thin skin, Periodontitis, Poor wound healing, Premature loss of teeth, Bruisin...	OMIM:130080
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Long philtrum, Intrauterine growth retardation, Cutis marmorata, Chronic bronchitis, Thin upper l...	OMIM:620494
Methylmalonic Aciduria, Cblb Type	Elevated circulating propionylcarnitine concentration, Hyperglycinemia, Hyperammonemia, Elevated ...	OMIM:251110
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Erythema, Pulmonary cyst, Recurrent pneumonia, Recurrent upper respiratory tract infections, Ecze...	OMIM:147060
Xq12-Q13.3 Duplication Syndrome	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Everted lower lip vermilion	ORPHA:314389
Diencephalic Syndrome	Everted lower lip vermilion	ORPHA:1672
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Pallor, Dehydration, Edema	ORPHA:20
Alternating Hemiplegia Of Childhood	Oral-pharyngeal dysphagia, Pallor, Tremor, Impulsivity, Aggressive behavior, Anorexia, Dystonia, ...	ORPHA:2131
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Everted upper lip vermilion, Gingival overgrowth, Thin upper lip vermilion, Deep philtrum, Short ...	OMIM:618381
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Polyhydramnios, Dry skin	ORPHA:1812
Wolcott-Rallison Syndrome	Hypoalbuminemia, Ascites, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Dehydration	ORPHA:1667
Chromosome 2P16.1-P15 Deletion Syndrome	High, narrow palate, Recurrent upper respiratory tract infections, Long philtrum, Intrauterine gr...	OMIM:612513
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Perianal erythema, Dry skin, Perioral erythema	OMIM:201100
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development	Ichthyosis, Everted lower lip vermilion	OMIM:242510
Hypophosphatasia	Emphysema, Abnormality of the dentition	ORPHA:436
Noonan Syndrome 14	Polyhydramnios, Dry skin	OMIM:619745
Alg11-Cdg	Dry skin	ORPHA:280071
Williams-Beuren Syndrome (WBS)	Everted lower lip vermilion, Microdontia	DECIPHER:3
Disabling Pansclerotic Morphea Of Childhood	Skin ulcer, Oral ulcer, Morphea	OMIM:620443
Acth-Independent Macronodular Adrenal Hyperplasia	Striae distensae, Bruising susceptibility, Thin skin	OMIM:219080
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Dry skin	OMIM:618797
Koolen-De Vries Syndrome	Narrow palate, Eczematoid dermatitis, Cleft upper lip, Widely spaced teeth, Dry skin, Intrauterin...	OMIM:610443
Methylmalonic Aciduria, Cbla Type	Hyperglycinemia, Hyperammonemia, Tremor, Dehydration, Methylmalonic acidemia	OMIM:251100
2P15P16.1 Microdeletion Syndrome	Long philtrum, Intrauterine growth retardation, Narrow mouth, Smooth philtrum, Everted lower lip ...	ORPHA:261349
Rothmund-Thomson Syndrome Type 1	Facial edema, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Porokeratos...	ORPHA:221008
Pigmented Nodular Adrenocortical Disease, Primary, 2	Striae distensae, Bruising susceptibility, Thin skin	OMIM:610475
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Thin upper lip vermilion, Everted lower lip vermilion, Long philtrum	ORPHA:357175
Ververi-Brady Syndrome	Intrauterine growth retardation, Thin upper lip vermilion, Smooth philtrum, Everted lower lip ver...	OMIM:617982
Donohue Syndrome	Acanthosis nigricans, Hyperkeratosis	OMIM:246200
Den Hoed-De Boer-Voisin Syndrome	Death in adolescence, Dry skin, Oligohydramnios	OMIM:619229
Noonan Syndrome 2	Webbed neck, Long philtrum, Increased nuchal translucency, Wide mouth, Redundant neck skin, Nonim...	OMIM:605275
Congenital Ichthyosiform Erythroderma	Ichthyosis, Pruritus, Palmoplantar keratoderma, Erythroderma	ORPHA:79394
Loeys-Dietz Syndrome 1	Striae distensae, Dermal translucency, Soft skin	OMIM:609192
Cranioectodermal Dysplasia 4	Recurrent pneumonia, Taurodontia, Smooth philtrum, Cutis laxa, Thin vermilion border	OMIM:614378
Immunodeficiency 49	Natal tooth, Psoriasiform dermatitis, Pulmonary artery stenosis, Cutis laxa, Short philtrum	OMIM:617237
Wiedemann-Rautenstrauch Syndrome	Dermal translucency, Acanthosis nigricans, Recurrent skin infections, Premature skin wrinkling	ORPHA:3455
Basel-Vanagaite-Smirin-Yosef Syndrome	Recurrent pneumonia, Furrowed tongue, Tented upper lip vermilion, Everted lower lip vermilion, Hi...	OMIM:616449
Familial Multiple Nevi Flammei	Skin ulcer, Edema	ORPHA:624
Kleefstra Syndrome 1	Natal tooth, Persistence of primary teeth, Protruding tongue, Everted lower lip vermilion, Macrog...	OMIM:610253
Ollier Disease	Skin ulcer	ORPHA:296
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis, Lymphedema	ORPHA:79280
Papa Syndrome	Pustule, Acne, Skin ulcer	ORPHA:69126
Melanocytic Nevus Syndrome, Congenital	Deep philtrum, Open mouth, Everted lower lip vermilion, Long philtrum	OMIM:137550
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Oligohydramnios, Wide mouth, Everted upper lip vermilion, Widely spaced teeth	OMIM:619056
Branchio-Oculo-Facial Syndrome	Upper lip pit, Tooth agenesis, Premature graying of hair, Intrauterine growth retardation, Microd...	ORPHA:1297
Calciphylaxis	Abnormality of skin physiology, Cutis marmorata, Skin ulcer	ORPHA:280062
2Q23.1 Microdeletion Syndrome	Tented upper lip vermilion, Macrodontia, Open mouth, Everted lower lip vermilion	ORPHA:228402
Nizon-Isidor Syndrome	High, narrow palate, Downturned corners of mouth, Upper eyelid edema, Open mouth, Narrow mouth, T...	OMIM:618872
Microvillus Inclusion Disease	Pruritus, Dehydration	ORPHA:2290
Braddock-Carey Syndrome 1	Enamel hypoplasia, Everted lower lip vermilion, Thick vermilion border, U-Shaped upper lip vermil...	OMIM:619980
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:1005
Cutis Laxa, Autosomal Dominant 2	Cutis laxa, Premature skin wrinkling	OMIM:614434
Proximal Xq28 Duplication Syndrome	Tented upper lip vermilion, Everted lower lip vermilion	ORPHA:1762
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Hyperextensible skin, Cutis laxa, Follicular hyperkeratosis, Polyhydramnios, Soft skin	OMIM:614557
Dyskeratosis Congenita	Abnormality of the dentition, Carious teeth, Palmoplantar keratoderma, Skin ulcer, Periodontitis,...	ORPHA:1775
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi...	OMIM:615067
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
19Q13.11 Microdeletion Syndrome	Dry skin	ORPHA:217346
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Oral leukoplakia	OMIM:615735
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pyoderma gangrenosum, Cystic acne, Acne	OMIM:604416
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Hyperkeratosis, Bronchiectasis, Cutis marmorata	OMIM:301220
Flynn-Aird Syndrome	Carious teeth, Skin ulcer	ORPHA:2047
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Dry skin	OMIM:619244
Loeys-Dietz Syndrome 2	Striae distensae, Dermal translucency, Soft skin	OMIM:610168
Ectopia Lentis 1, Isolated, Autosomal Dominant	Striae distensae, High palate	OMIM:129600
Livedoid Vasculopathy	Poor wound healing, Skin ulcer, Macular purpura, Cutis marmorata, Superficial dermal perivascular...	ORPHA:542643
Congenital Tufting Enteropathy	Steatorrhea, Dehydration	ORPHA:92050
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Dental crowding, Long philtrum, Thin upper lip vermilion, Everted lower lip vermilion, High palat...	OMIM:617877
Liver Disease, Severe Congenital	Pulmonary edema, Dermal translucency, Eczematoid dermatitis, Ascites	OMIM:619991
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperammonemia, Dehydration	OMIM:615453
Neuroleptic Malignant Syndrome	Oculogyric crisis, Hyperphosphatemia, Dehydration, Hypomagnesemia, Hypocalcemia, Hyperuricemia, E...	ORPHA:94093
Systemic Sclerosis	Thickened skin, Digital ulcer, Pruritus, Narrow mouth, Joint swelling, Acral ulceration, Gastroin...	ORPHA:90291
Lymphatic Malformation 6	Facial edema, Generalized edema, Cupped ear, Hearing impairment, Chylothorax, Lymphedema, Ascites...	OMIM:616843
Malan Syndrome	Cutis marmorata, Gingival overgrowth, Narrow mouth, Advanced eruption of teeth, Everted lower lip...	OMIM:614753
Oligomeganephronia	Dehydration, Pulmonary venous occlusion, Pulmonary hypoplasia	ORPHA:2260
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Progeroid facial appearance, Abnormality of primary teeth, Narrow mouth, Hyperextensible skin, Cu...	ORPHA:75496
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Recurrent pneumonia, Thin skin, Dental crowding, Poor wound healing, Bruising susceptibility, Hyp...	OMIM:225400
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Microglossia, Intrauterine growth retardation, Oligohydramnios, Tented upp...	ORPHA:364577
Arterial Tortuosity Syndrome	Bifid uvula, Thin skin, Bruising susceptibility, Long philtrum, Progeroid facial appearance, Soft...	OMIM:208050
Prader-Willi Syndrome Due To Translocation	Bifid uvula, Carious teeth, Downturned corners of mouth, Intrauterine growth retardation, Oligohy...	ORPHA:177907
Mucolipidosis Type Iv	Palmoplantar keratoderma, Everted lower lip vermilion, Microdontia	ORPHA:578
Trichothiodystrophy 8, Nonphotosensitive	Thin upper lip vermilion, Cutis laxa, Eczematoid dermatitis, Long philtrum	OMIM:619691
Cutis Laxa, Autosomal Recessive, Type Iie	High palate, Cutis laxa, Long philtrum, Thick lower lip vermilion	OMIM:619451
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration, Hyperkalemia, Hyponatremia	OMIM:143860
Glucose/Galactose Malabsorption	Hypertonic dehydration	OMIM:606824
Dermatoosteolysis, Kirghizian Type	Abnormality of the dentition, Skin ulcer, Oligodontia	ORPHA:1657
Parkes Weber Syndrome	Prominent superficial blood vessels, Skin ulcer, Scaling skin	ORPHA:90307
Proteasome-Associated Autoinflammatory Syndrome 1	Erythema, Recurrent upper respiratory tract infections, Progeroid facial appearance, Thick lower ...	OMIM:256040
Heart And Brain Malformation Syndrome	High, narrow palate, Cleft lip, Thick lower lip vermilion, Everted lower lip vermilion, Polyhydra...	OMIM:616920
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Pulmonary fibrosis, Death in childhood, Atelectasis	OMIM:618278
Ogden Syndrome	Everted upper lip vermilion, Facial wrinkling, Thick upper lip vermilion, Pulmonary edema, Jaundi...	OMIM:300855
Ullrich Congenital Muscular Dystrophy 1A	Follicular hyperkeratosis, Mildly elevated creatine kinase, Torticollis	OMIM:254090
Cranioectodermal Dysplasia 2	Recurrent pneumonia, Widely spaced teeth, Microdontia, Fused teeth, Smooth philtrum, Cutis laxa, ...	OMIM:613610
Cushing Disease	Acne, Poor wound healing, Skin ulcer, Bruising susceptibility, Striae distensae, Flushing, Dorsoc...	ORPHA:96253
Char Syndrome	Agenesis of permanent teeth, Persistence of primary teeth, Triangular mouth, Everted lower lip ve...	ORPHA:46627
Chromosome 19Q13.11 Deletion Syndrome, Distal	Dry skin	OMIM:613026
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Dry skin, Skin rash	ORPHA:220295
Trichorhinophalangeal Syndrome, Type Iii	Epidermal hyperkeratosis	OMIM:190351
Marshall-Smith Syndrome	Eclabion, Recurrent upper respiratory tract infections, Aspiration pneumonia, Gingival overgrowth...	OMIM:602535
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Erythema, Intrauterine growth retardation, Open mouth, High palate	OMIM:614653
Trichothiodystrophy	Congenital exfoliative erythroderma, Dry skin, Ichthyosis, Eczematoid dermatitis	ORPHA:33364
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali...	OMIM:265300
Alg8-Cdg	Abnormality of subcutaneous fat tissue, Premature skin wrinkling, Ascites, Intrauterine growth re...	ORPHA:79325
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Dehydration, Increased circulat...	ORPHA:90791
Chronic Actinic Dermatitis	Eczematoid dermatitis, Erythroderma, Late onset atopic dermatitis, Epidermal acanthosis, Pruritus...	ORPHA:330064
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Abnormality of the dentition, Dental malocclusion, Thick lower lip vermilion, Telangiectasia of t...	ORPHA:85321
Uruguay Faciocardiomusculoskeletal Syndrome	Everted lower lip vermilion, Thick vermilion border	OMIM:300280
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macroglossia, Wide mouth, Open mouth, Everted lower lip vermilion	OMIM:616789
Kleefstra Syndrome	Delayed eruption of teeth, Downturned corners of mouth, Tented upper lip vermilion, Exaggerated c...	ORPHA:261494
Lysosomal Acid Lipase Deficiency	Hyperkalemia, Ascites, Xanthelasma, Hyponatremia, Hypercholesterolemia, Hypertriglyceridemia, Ste...	ORPHA:275761
Gapo Syndrome	Delayed eruption of teeth, Long philtrum, Hyperextensible skin, Abnormal palate morphology, Evert...	ORPHA:2067
Ehlers-Danlos Syndrome, Vascular Type	Dermal translucency, Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Periodontitis, Bruisi...	OMIM:130050
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Abnormal oral mucosa morphology, Edema, Pyoderma, Erosion of oral mucosa, Pneumothorax...	ORPHA:79404
Pgm3-Cdg	Atopic dermatitis, Recurrent pneumonia, Skin ulcer, Eczematoid dermatitis, Cutaneous abscess, Vas...	ORPHA:443811
Dend Syndrome	Long philtrum, Downturned corners of mouth, Dehydration	ORPHA:79134
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Eczematoid dermatitis, Ichthyosis, Hyperextensible skin, Polyhydramnios, Hyperkeratosis	OMIM:607721
Septo-Optic Dysplasia Spectrum	Dry skin	ORPHA:3157
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Upper eyelid edema, Open mouth, Protruding tongue, Smooth philtrum, Everted lower lip vermilion, ...	OMIM:617804
Resistance To Thyrotropin-Releasing Hormone Syndrome	Dry skin	ORPHA:99832
Glucose-Galactose Malabsorption	Hypercalcemia, Hypernatremia, Dehydration	ORPHA:35710
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Dental crowding, Downturned corners of mouth, Thin skin, Intrauterine growth retar...	OMIM:617602
Surfactant Metabolism Dysfunction, Pulmonary, 1	Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int...	OMIM:265120
Cryoglobulinemic Vasculitis	Petechiae, Cutis marmorata, Purpura, Skin ulcer	ORPHA:91138
Osteootohepatoenteric Syndrome	Hypokalemia, Pruritus, Dehydration, Increased serum bile acid concentration	OMIM:619377
Premature Aging Syndrome, Penttinen Type	Thickened skin, Delayed eruption of teeth, Corneal stromal edema, Narrow philtrum, Palmoplantar h...	OMIM:601812
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent pneumonia, Eczematoid dermatitis, Emphysema, Pyoderma, Recurrent bronchopulmonary infec...	OMIM:242700
Foxg1 Syndrome Due To 14Q12 Microdeletion	Macroglossia, Tented upper lip vermilion, Smooth philtrum, Everted lower lip vermilion, Palpebral...	ORPHA:261144
9P13 Microdeletion Syndrome	Dry skin	ORPHA:324313
Blau Syndrome	Erythema, Xerostomia, Skin ulcer, Dry skin, Joint swelling, Skin rash, Ichthyosis, Erythema nodosum	ORPHA:90340
Bethlem Muscular Dystrophy	Hyperkeratosis	ORPHA:610
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Erythema, Eczematoid dermatitis, Abnormal dental enamel morphology, Ichthyosis, Recurrent respira...	ORPHA:2273
Autoinflammatory Disease, Systemic, With Vasculitis	Erythema, Atopic dermatitis, Parotitis, Intrauterine growth retardation, Oral ulcer, Periorbital ...	OMIM:620376
Pigmented Nodular Adrenocortical Disease, Primary, 1	Striae distensae, Bruising susceptibility, Thin skin	OMIM:610489
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Unilateral deafness, Edema	OMIM:612097
Wagr Syndrome	Everted lower lip vermilion	ORPHA:893
Adult Syndrome	Dry skin, Eczematoid dermatitis	OMIM:103285
Behcet Syndrome	Erythema, Erythema nodosum, Oral ulcer	OMIM:109650
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Hypernatremia, Hypertonic dehydration	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Hypernatremia, Hypertonic dehydration	OMIM:304800
Beta-Thalassemia	Pallor, Skin ulcer	ORPHA:848
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Dry skin, Oligohydramnios, Death in childhood, Death in infancy, Stillbirth, Hyperkeratosis	OMIM:210710
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Everted lower lip vermilion, Glossoptosis, Cl...	OMIM:616367
Acquired Purpura Fulminans	Pyoderma gangrenosum, Acrocyanosis, Skin rash, Macular purpura	ORPHA:49566
Psoriasis-Related Juvenile Idiopathic Arthritis	Malar rash, Psoriasiform lesion, Psoriasiform dermatitis, Skin rash, Pruritus	ORPHA:85436
Bainbridge-Ropers Syndrome	Dental crowding, Intrauterine growth retardation, Gingival overgrowth, Death in infancy, Thin upp...	OMIM:615485
Pyoderma Gangrenosum	Pustule, Skin vesicle, Skin ulcer	ORPHA:48104
Meester-Loeys Syndrome	Bifid uvula, Pulmonary artery aneurysm, Poor wound healing, Bruising susceptibility, Striae diste...	OMIM:300989
Smith-Magenis Syndrome	Abnormality of the dentition, Everted upper lip vermilion, Orofacial cleft, Velopharyngeal insuff...	OMIM:182290
Mucopolysaccharidosis, Type Iiic	Recurrent upper respiratory tract infections, Everted lower lip vermilion	OMIM:252930
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Erythema, Narrow mouth, Fragile skin, Abnormal pulmonary interstitial morphology, Recurrent respi...	OMIM:614748
Reactive Arthritis	Pustule, Hyperkeratosis, Joint swelling	ORPHA:29207
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis	OMIM:620189
Meier-Gorlin Syndrome 4	Emphysema, Intrauterine growth retardation, Narrow mouth, Thick lower lip vermilion	OMIM:613804
Vipoma	Erythema, Increased circulating cortisol level, Ascites, Hypokalemia, Anorexia, Hypercalcemia, De...	ORPHA:97282
Giant Cell Arteritis	Glossitis, Abnormal pleura morphology, Skin ulcer, Recurrent pharyngitis	ORPHA:397
Common Variable Immunodeficiency	Pneumonia, Emphysema, Recurrent bronchitis, Recurrent respiratory infections, Purpura, Bronchiect...	ORPHA:1572
Cutis Laxa, Autosomal Recessive, Type Iiia	Intrauterine growth retardation, Narrow mouth, Hyperextensible skin, Cutis laxa, Prominent superf...	OMIM:219150
Helix Syndrome	Dry skin, Xerostomia	OMIM:617671
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Dry skin, Increased nuchal translucency	OMIM:620654
Fanconi Renotubular Syndrome 5	Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Fabry Disease	Thick lower lip vermilion, Emphysema, Lymphedema, Angiokeratoma, Conjunctival telangiectasia, Tel...	ORPHA:324
Bartter Syndrome, Type 3	Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Dehydration, Increased circulating renin level	OMIM:607364
Microcephaly-Deafness-Intellectual Disability Syndrome	Everted lower lip vermilion, Abnormal palate morphology	ORPHA:2533
Scorpion Envenomation	Pulmonary edema, Erythema, Purpura, Edema	ORPHA:466677
X-Linked Intellectual Disability, Shashi Type	Palpebral edema, Everted lower lip vermilion	ORPHA:85286
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Elevated circulating palmitoleylcarnitine concentration, Intrauterine growth retardation, Hyperam...	ORPHA:79282
Cardiofaciocutaneous Syndrome 1	Abnormality of the dentition, Atopic dermatitis, Webbed neck, Dental malocclusion, Open bite, Ope...	OMIM:115150
Granulomatosis With Polyangiitis	Skin ulcer, Pleuritis, Skin rash, Pulmonary infiltrates, Purpura, Abnormal oral cavity morphology...	ORPHA:900
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microglossia, Exaggerated median tongue furrow, Long philtrum, Intrauterine growth retardation, O...	OMIM:608670
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Dry skin, Eczematoid dermatitis	ORPHA:508542
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Intrauterine growth retardation, Thick vermilion border, Open mouth, E...	OMIM:615866
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Recurrent pneumonia, Furrowed tongue, Tented upper lip vermilion, Exaggerate...	ORPHA:464738
Takayasu Arteritis	Skin ulcer	ORPHA:3287
Autosomal Dominant Hypocalcemia	Dry skin, Eczematoid dermatitis	ORPHA:428
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Erythematous oral mucosa, Furr...	OMIM:158310
Mucopolysaccharidosis Type 1	Widely spaced teeth, Thick lower lip vermilion, Gingival overgrowth, Microdontia, Everted lower l...	ORPHA:579
Colchicine Poisoning	Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Isolated Thyroid-Stimulating Hormone Deficiency	Facial edema, Dry skin	ORPHA:90674
Glycogen Storage Disease Due To Acid Maltase Deficiency	Macroglossia, Respiratory tract infection, Atelectasis	ORPHA:365
Adrenocortical Carcinoma	Striae distensae, Lung adenocarcinoma	ORPHA:1501
Acrocallosal Syndrome	Everted upper lip vermilion, Open mouth, Narrow mouth, Protruding tongue, Alveolar process hypopl...	OMIM:200990
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Downturned corners of mouth, Widely spaced teeth, Open mouth, Advanced eruption of teeth, Everted...	OMIM:617865
Ehlers-Danlos Syndrome, Classic Type, 1	Poor wound healing, Bruising susceptibility, Hyperextensible skin, Recurrent sinusitis, Fragile s...	OMIM:130000
Loeys-Dietz Syndrome 3	Dermal translucency, Striae distensae, Soft skin	OMIM:613795
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin ulcer, Eczematoid dermatitis, Cutis marmorata, Aphthous ulcer, Livedo racemosa, Oral ulcer, ...	OMIM:615688
Congenital Disorder Of Glycosylation, Type Iia	Long philtrum, Diastema, Macrodontia, Gingival overgrowth, Open mouth, Protruding tongue, Everted...	OMIM:212066
Fucosidosis	Generalized hyperkeratosis	ORPHA:349
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Carious teeth, Long philtrum, Widely spaced teeth, Thick lower lip vermilion...	OMIM:615873
Focal Facial Dermal Dysplasia Type Iv	Abnormal epidermal morphology, Cleft palate, Cleft upper lip	ORPHA:398189
Chanarin-Dorfman Syndrome	Congenital nonbullous ichthyosiform erythroderma, Everted lower lip vermilion	OMIM:275630
Rabson-Mendenhall Syndrome	Dry skin, Acanthosis nigricans	ORPHA:769
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Upper eyelid edema, Everted lower lip vermilion	OMIM:616819
Intellectual Developmental Disorder, Autosomal Dominant 54	Dry skin, Eczematoid dermatitis	OMIM:617799
21Q22.11Q22.12 Microdeletion Syndrome	Dry skin	ORPHA:261323
Fetal Hydantoin Syndrome	Intrauterine growth retardation, Wide mouth, Everted lower lip vermilion, Cleft palate	ORPHA:1912
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em...	ORPHA:95430
Tatton-Brown-Rahman Syndrome	Thin vermilion border, Deep philtrum, Everted upper lip vermilion, Exaggerated cupid's bow	OMIM:615879
X-Linked Intellectual Disability, Nascimento Type	Dry skin, Oligohydramnios, Recurrent cutaneous abscess formation	ORPHA:163956
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Dry skin	ORPHA:2637
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Increased blood urea nitrogen, Dehydration	ORPHA:230
Intellectual Developmental Disorder, Autosomal Dominant 1	Downturned corners of mouth, Widely spaced teeth, Open mouth, Microdontia, Thin upper lip vermili...	OMIM:156200
Renal Hypoplasia	Polydipsia, Dehydration	ORPHA:93101
Chromosome 17P13.1 Deletion Syndrome	High, narrow palate, Webbed neck, Oligohydramnios, Short philtrum, Everted lower lip vermilion, H...	OMIM:613776
Wiskott-Aldrich Syndrome	Gingival bleeding, Skin ulcer, Spontaneous hematomas, Recurrent intrapulmonary hemorrhage, Bruisi...	ORPHA:906
Lmna-Related Cardiocutaneous Progeria Syndrome	Premature graying of hair, Emphysema, Premature skin wrinkling, Abnormality of the pulmonary arte...	ORPHA:363618
Hajdu-Cheney Syndrome	Abnormality of the dentition, Thickened skin, Periodontitis, Skin ulcer, Downturned corners of mo...	ORPHA:955
Adult Syndrome	Abnormality of the dentition, Skin ulcer, Dry skin, Abnormal dental morphology, Thin skin	ORPHA:978
Juvenile Nephropathic Cystinosis	Hypouricemia, Polydipsia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp...	ORPHA:411634
Primary Sjögren Syndrome	Usual interstitial pneumonia, Xerostomia, Bronchitis, Skin ulcer, Parotitis, Dry skin, Cutis marm...	ORPHA:289390
Anauxetic Dysplasia 3	Recurrent respiratory infections, Cutis laxa, Oligodontia	OMIM:618853
Craniofaciofrontodigital Syndrome	Lower eyelid edema, Long philtrum, Premature skin wrinkling, Gingival overgrowth, Prominent media...	ORPHA:363705
Lymphatic Filariasis	Predominantly lower limb lymphedema, Hyperkeratosis, Lymphedema	ORPHA:2035
Microsporidiosis	Pneumonia, Bronchiolitis, Bronchitis, Glossitis, Dehydration	ORPHA:2552
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Skin ulcer	ORPHA:2218
Trisomy 20P	Abnormality of the dentition, Downturned corners of mouth, Abnormal palate morphology, Microdonti...	ORPHA:261318
Acrofrontofacionasal Dysostosis	High palate, Cleft palate, Everted lower lip vermilion, Non-midline cleft of the upper lip	ORPHA:1784
Cushing Syndrome Due To Ectopic Acth Secretion	Acne, Small cell lung carcinoma, Poor wound healing, Skin ulcer, Bruising susceptibility, Striae ...	ORPHA:99889
Pearson Syndrome	Hypomagnesemia, Hypocalcemia, Hypokalemia, Corneal stromal edema, Hypophosphatemia, Hyperalaninem...	ORPHA:699
Cutis Laxa, Autosomal Recessive, Type Iia	Carious teeth, Long philtrum, Intrauterine growth retardation, Redundant skin, Narrow mouth, Exce...	OMIM:219200
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased circulating cortisol level, Hyperaldosteronism, Striae distensae, Hyperlipidemia, Acne,...	ORPHA:189427
Menkes Disease	Dry skin, Hyperextensible skin, Thickened skin	ORPHA:565
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema	OMIM:118650
Cardiac Valvular Dysplasia, X-Linked	Cutis laxa, Thick vermilion border	OMIM:314400
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Skin ulcer	OMIM:613640
Bone Marrow Failure Syndrome 3	Intrauterine growth retardation, Hyperkeratosis, Eczematoid dermatitis, Hyperactivity	OMIM:617052
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Hyponatremia, Decreased circulating cortisol leve...	ORPHA:168558
Coffin-Siris Syndrome 4	Macroglossia, Everted upper lip vermilion, Long philtrum, Thick lower lip vermilion, Intrauterine...	OMIM:614609
Hermansky-Pudlak Syndrome	Thickened skin, Bruising susceptibility, Abnormal dental enamel morphology, Pulmonary fibrosis, H...	ORPHA:79430
Cystic Fibrosis	Recurrent pneumonia, Nasal polyposis, Recurrent bronchopulmonary infections, Bronchiectasis, Dehy...	OMIM:219700
Hurler Syndrome	Death in infancy, Everted lower lip vermilion, Thick vermilion border, Macroglossia, Recurrent re...	ORPHA:93473
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Thin upper lip vermilion, Everted lower lip vermilion	OMIM:617101
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Hyponatremia, Decreased circulating cortisol leve...	ORPHA:289548
Fryns-Smeets-Thiry Syndrome	Downturned corners of mouth, Thick lower lip vermilion, Everted lower lip vermilion, Short philtr...	ORPHA:2058
Geroderma Osteodysplasticum	Abnormality of the dentition, Periodontitis, Progeroid facial appearance, Premature skin wrinklin...	OMIM:231070
Infantile Nephropathic Cystinosis	Polydipsia, Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration, Dehydration	ORPHA:411629
Alpha-1-Antitrypsin Deficiency	Emphysema, Jaundice, Bronchiectasis, Bronchitis	ORPHA:60
Digeorge Syndrome	High, narrow palate, Bifid uvula, Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Short ph...	OMIM:188400
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis	OMIM:615510
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polydipsia, Hypomagnesemia, Hyperaldosteronis...	OMIM:241200
Dubowitz Syndrome	Dry skin, Eczematoid dermatitis	ORPHA:235
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dry skin	OMIM:619306
Marfan Syndrome	Narrow palate, Pulmonary artery dilatation, Dental crowding, Emphysema, Striae distensae, Reduced...	OMIM:154700
Fucosidosis	Dry skin, Petechiae	OMIM:230000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Pulmonary fibrosis, Premature graying of hair	OMIM:620365
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Carious teeth, Long philtrum, Prominent veins on trunk, Intrauterine growth retardation, Redundan...	ORPHA:357074
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronism, Hypokalem...	OMIM:601678
Trisomy 12P	Everted lower lip vermilion, Cleft palate, Downturned corners of mouth	ORPHA:1699
Late-Onset Isolated Acth Deficiency	Dry skin	ORPHA:199299
Trisomy 8Q	Abnormal oral frenulum morphology, Orofacial cleft, Everted lower lip vermilion, Bifid tongue, Hi...	ORPHA:1752
Glucagonoma	Subcutaneous lipoma, Ascites, Necrolytic migratory erythema, Skin rash, Intermittent jaundice, Gl...	ORPHA:97280
3M Syndrome	Delayed eruption of teeth, Long philtrum, Abnormal dental enamel morphology, Intrauterine growth ...	ORPHA:2616
Dyskeratosis Congenita, Autosomal Dominant 3	Dry skin	OMIM:613990
Scalp-Ear-Nipple Syndrome	Palpebral edema, Thickened skin, Dry skin	OMIM:181270
Marburg Hemorrhagic Fever	Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Skin rash, Hyper...	ORPHA:99826
Sheehan Syndrome	Dry skin, Pallor	ORPHA:91355
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Acral ulceration	OMIM:613115
Vici Syndrome	Everted upper lip vermilion, Long philtrum, Cleft upper lip, Chronic mucocutaneous candidiasis, T...	OMIM:242840
Nephrogenic Diabetes Insipidus	Polydipsia, Hypernatremic dehydration, Anorexia, Polyhydramnios, Hypernatremia	ORPHA:223
Nestor-Guillermo Progeria Syndrome	Dry skin	OMIM:614008
Bainbridge-Ropers Syndrome	High, narrow palate, Dental crowding, Open mouth, Everted lower lip vermilion	ORPHA:352577
Ichthyosis, Congenital, Autosomal Recessive 4A	Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma	OMIM:601277
Developmental And Epileptic Encephalopathy 49	Thick upper lip vermilion, Tented upper lip vermilion, Open mouth, Everted lower lip vermilion, S...	OMIM:617281
Catastrophic Antiphospholipid Syndrome	Cutis marmorata, Skin ulcer, Miscarriage	ORPHA:464343
Hamamy Syndrome	Dental malocclusion, Long philtrum, Thin upper lip vermilion, Hypodontia, Smooth philtrum, Enamel...	OMIM:611174
Marfan Syndrome	High, narrow palate, Spontaneous pneumothorax, Pulmonary artery dilatation, Dental crowding, Emph...	ORPHA:558
X-Linked Intellectual Disability, Snyder Type	Webbed neck, Dental crowding, Thick lower lip vermilion, Narrow mouth, Smooth philtrum, Everted l...	ORPHA:3063
Leprechaunism	Thickened skin, Hyperaldosteronism, Hyperextensible skin, Hypokalemia, Acanthosis nigricans, Seve...	ORPHA:508
Leukocyte Adhesion Deficiency, Type I	Poor wound healing, Chronic mucocutaneous candidiasis, Periodontitis, Skin ulcer, Gingivitis	OMIM:116920
Bartter Syndrome Type 4	Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Hyponatremia, Polyhydramnios, Hypochloremia, Deh...	ORPHA:89938
Leprosy	Hyperkeratosis, Acral ulceration, Penetrating foot ulcers	ORPHA:548
Neutral Lipid Storage Disease With Ichthyosis	Eclabion, Congenital nonbullous ichthyosiform erythroderma	ORPHA:98907
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Inflammatory abnormality of the skin, Xerostomia, Skin ulcer, Skin rash, Acantholysis	ORPHA:95455
Melas	Erythema	ORPHA:550
Atopic Keratoconjunctivitis	Dry skin	ORPHA:163934
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Unusual skin infection, Skin ulcer, Respiratory tract infection, Pustule, Cerebral edema	ORPHA:68
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Abnormality of the dentition, Delayed eruption of teeth, Emphyse...	ORPHA:289
Johnson Neuroectodermal Syndrome	Carious teeth, Everted lower lip vermilion, Cleft palate	ORPHA:2316
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Polydipsia, Hypomagnesemia, Hypophosphatemic ricke...	OMIM:219800
Paternal Uniparental Disomy Of Chromosome 6	Intrauterine growth retardation, Oligohydramnios, Gingival overgrowth, Macroglossia, High palate,...	ORPHA:96191
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Smooth philtrum, Protruding tongue, Everted lower lip vermilion	ORPHA:324410
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir...	ORPHA:90038
Vascular Ehlers-Danlos Syndrome	Dermal translucency, Redundant skin, Excessive wrinkled skin	ORPHA:286
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Carious teeth, Xerostomia, Selective tooth agenesis, Cleft upper lip, Oligodontia, Microdontia, A...	OMIM:129900
Megalocornea-Intellectual Disability Syndrome	Short philtrum, High palate, Open mouth, Everted lower lip vermilion	ORPHA:2479
Koolen-De Vries Syndrome Due To A Point Mutation	Eczematoid dermatitis, Abnormal dental morphology, Open mouth, Ichthyosis, Ectodermal dysplasia, ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Eczematoid dermatitis, Abnormal dental morphology, Open mouth, Ichthyosis, Ectodermal dysplasia, ...	ORPHA:363958
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the dentition, Thick lower lip vermilion, Tented upper lip vermilion, Death in inf...	ORPHA:847
Hereditary Spherocytosis	Jaundice, Maculopapular exanthema, Pallor, Skin ulcer	ORPHA:822
Axenfeld-Rieger Syndrome, Type 2	Hypodontia, Short philtrum, Everted lower lip vermilion, Microdontia	OMIM:601499
Scheie Syndrome	Wide mouth, Everted lower lip vermilion, Thick vermilion border	ORPHA:93474
Cranioectodermal Dysplasia 1	High, narrow palate, Widely spaced teeth, Anodontia, Microdontia, Hypodontia, Ectodermal dysplasi...	OMIM:218330
Woodhouse-Sakati Syndrome	Scaling skin, Anodontia	ORPHA:3464
Menkes Disease	Intrauterine growth retardation, Cutis laxa, Death in childhood	OMIM:309400
3Q29 Microdeletion Syndrome	Abnormality of the dentition, Dental crowding, Orofacial cleft, Everted lower lip vermilion, High...	ORPHA:65286
Lipodystrophy, Familial Partial, Type 7	Dry skin, Acanthosis nigricans, Pleural effusion, Facial wrinkling	OMIM:606721
Plague	Skin ulcer, Chapped lip, Dry skin, Skin rash, Carbuncle, Erythema nodosum, Edema	ORPHA:707
Coffin-Lowry Syndrome	Narrow palate, Dental malocclusion, Thick lower lip vermilion, Widely spaced teeth, Cutis marmora...	OMIM:303600
Limb-Mammary Syndrome	Dry skin, Psoriasiform dermatitis	ORPHA:69085
Intellectual Developmental Disorder, Autosomal Dominant 73	Widely spaced teeth, Thick lower lip vermilion, Ankyloglossia, Cleft soft palate, Increased overb...	OMIM:620450
Ablepharon Macrostomia Syndrome	Dry skin, Redundant skin, Excessive wrinkled skin	ORPHA:920
Moebius Syndrome	Aplasia/Hypoplasia of the tongue, Tooth agenesis, Open mouth, Death in infancy, Microdontia, Ever...	ORPHA:570
Hyperoxaluria, Primary, Type I	Cutis marmorata, Acrocyanosis, Dehydration	OMIM:259900
Immunodeficiency 89 And Autoimmunity	Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening	OMIM:619632
Kleefstra Syndrome Due To 9Q34 Microdeletion	Macroglossia, Protruding tongue, Everted lower lip vermilion, Downturned corners of mouth	ORPHA:96147
Schwartz-Jampel Syndrome	Odontogenic neoplasm, Dental malocclusion, Pursed lips, Long philtrum, Narrow mouth, Death in inf...	ORPHA:800
Neonatal Marfan Syndrome	Emphysema, Cutis laxa, High, narrow palate	ORPHA:284979
Simple Cryoglobulinemia	Cold urticaria, Vascular skin abnormality, Acral ulceration, Abnormal lung morphology, Purpura	ORPHA:91139
Meier-Gorlin Syndrome 1	Emphysema, Intrauterine growth retardation, Narrow mouth, Death in infancy, Microdontia, Thick ve...	OMIM:224690
Distal Renal Tubular Acidosis	Hypokalemia, Polydipsia, Dehydration	ORPHA:18
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Skin ulcer	ORPHA:86884
Primary Fanconi Renotubular Syndrome	Pulmonary fibrosis, Dehydration	ORPHA:3337
Aortic Aneurysm, Familial Thoracic 10	Striae distensae, High palate, Dental crowding	OMIM:617168
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Acral ulceration	OMIM:162400
Isolated Permanent Neonatal Diabetes Mellitus	Intrauterine growth retardation, Downturned corners of mouth, Dehydration	ORPHA:99885
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Cutis laxa	OMIM:610842
Bohring-Opitz Syndrome	Cleft upper lip, Intrauterine growth retardation, Narrow mouth, Bilateral cleft palate, Cutis lax...	OMIM:605039
Acute Adrenal Insufficiency	Dry skin	ORPHA:95409
2Q31.1 Microdeletion Syndrome	Downturned corners of mouth, Long philtrum, Deep philtrum, Everted lower lip vermilion, Thin verm...	ORPHA:251014
Dominant Beta-Thalassemia	Abnormality of the dentition, Jaundice, Pallor, Skin ulcer	ORPHA:231226
Ramon Syndrome	Hyperkeratosis	OMIM:266270
Cockayne Syndrome B	Dry skin, Death in childhood	OMIM:133540
Autosomal Recessive Faciodigitogenital Syndrome	Long philtrum, Open bite, Hyperextensible skin, Deep philtrum, Everted lower lip vermilion, High ...	ORPHA:1974
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Short philtrum, Deep philtrum, Everted upper lip vermilion	OMIM:619951
Scarf Syndrome	Webbed neck, Long philtrum, Cutis laxa, Enamel hypoplasia, Hypocalcification of dental enamel	ORPHA:3134
Classical Ehlers-Danlos Syndrome	Poor wound healing, Bruising susceptibility, Soft, doughy skin, Striae distensae, Blepharochalasi...	ORPHA:287
Aicardi-Goutières Syndrome	Dry skin, Chilblains	ORPHA:51
Nablus Mask-Like Facial Syndrome	Abnormality of the dentition, Long philtrum, Narrow mouth, Thin upper lip vermilion, Smooth philt...	OMIM:608156
Baller-Gerold Syndrome	Erythema, Bifid uvula, Narrow mouth, Long upper lip, Severe intrauterine growth retardation, Thin...	OMIM:218600
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Long philtrum, Abnormality of dental eruption, Everted lower lip vermilion, ...	ORPHA:96092
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Long philtrum, Narrow mouth, Thin upper lip vermilion, Pulmonary artery stenosis, Smooth philtrum...	ORPHA:459070
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cleft lip, Open mouth, Acanthosis nigricans, Everted lower lip vermilion, Thick vermilion border,...	OMIM:301066
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormality of the dentition, Pulmonary hypoplasia, Thin skin, Long philtrum, Lymphedema, Soft, d...	ORPHA:536471
Beta-Thalassemia Intermedia	Jaundice, Pallor, Skin ulcer	ORPHA:231222
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Acne, Hypochloremia, Dehydratio...	ORPHA:90794
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bifid uvula, Long philtrum, Widely spaced teeth, Thick lower lip vermilion, Microdontia, Thin upp...	OMIM:612474
Urachal Cyst	Erythema	ORPHA:488
Hereditary Elliptocytosis	Prolonged neonatal jaundice, Jaundice, Hydrops fetalis, Skin ulcer	ORPHA:288
Perlman Syndrome	Everted upper lip vermilion, Ascites, Open mouth, Tented upper lip vermilion, Long upper lip, Pol...	OMIM:267000
Sympathetic Ophthalmia	Erythema, Macular edema	ORPHA:79098
Loeys-Dietz Syndrome	Bifid uvula, Bruising susceptibility, Striae distensae, Orofacial cleft, High palate, Thin skin	ORPHA:60030
Epidermodysplasia Verruciformis, Susceptibility To, 3	Epidermal acanthosis	OMIM:618267
Adenocarcinoma Of The Anal Canal	Skin ulcer, Neoplasm of the lung	ORPHA:424016
Bartsocas-Papas Syndrome 1	Dry skin	OMIM:263650
Thyroid Ectopia	Dry skin	ORPHA:95712
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	Polyhydramnios, Cutis laxa, Cleft palate	OMIM:270420
Williams Syndrome	Peripheral pulmonary artery stenosis, Carious teeth, Dental malocclusion, Long philtrum, Thick lo...	ORPHA:904
Pseudoxanthoma Elasticum	Civatte bodies, Cutis laxa, White oral mucosal macule	OMIM:264800
Huriez Syndrome	Epidermal acanthosis, Congenital palmoplantar hyperkeratosis	OMIM:181600
Malakoplakia	Skin rash, Pruritus, Inflammatory abnormality of the skin, Skin ulcer	ORPHA:556
Cockayne Syndrome A	Dry skin	OMIM:216400
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Poor wound healing, Skin ulcer, Hyperextensible skin, Ecchymosis, Abnormal pulmonary interstitial...	ORPHA:2072
Blau Syndrome	Eczematoid dermatitis, Skin ulcer, Joint swelling, Cystoid macular edema, Erythema nodosum	OMIM:186580
Tangier Disease	Dry skin	ORPHA:31150
Multiple Endocrine Neoplasia Type 1	Increased circulating cortisol level, Primary hypercortisolism, Anorexia, Hypercalcemia, Dehydration	ORPHA:652
Alzahrani-Kuwahara Syndrome	Dry skin, Eczematoid dermatitis	OMIM:619268
Beta-Thalassemia Major	Abnormality of the dentition, Jaundice, Pallor, Skin ulcer	ORPHA:231214
Orofaciodigital Syndrome Type 1	Dry skin	ORPHA:2750
Sarcoidosis, Susceptibility To, 1	Abnormal salivary gland morphology, Emphysema, Pleural effusion, Pulmonary infiltrates, Pericardi...	OMIM:181000
Cutis Laxa, Autosomal Recessive, Type Iic	Dental crowding, Long philtrum, Oligohydramnios, Narrow mouth, Median cleft palate, Reduced subcu...	OMIM:617402
Macrocephaly/Autism Syndrome	High palate, Cutis laxa, Long philtrum	OMIM:605309
Sweet Syndrome	Acne inversa, Predominantly dermal neutrophilic infiltrate, Pustule, Skin vesicle, Pyoderma gangr...	ORPHA:3243
Goldberg-Shprintzen Syndrome	Short philtrum, Thick vermilion border, Everted lower lip vermilion, Oligodontia	OMIM:609460
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Bifid uvula, Thin skin, Widely spaced teeth, Microdontia, Smooth philtrum, Cutis laxa, High palat...	OMIM:266920
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Thin vermilion border, Cutis laxa, Long philtrum	OMIM:614800
Microphthalmia With Linear Skin Defects Syndrome	Abnormal dental enamel morphology, Erythema	ORPHA:2556
Zollinger-Ellison Syndrome	Erythema, Jaundice	ORPHA:913
Meier-Gorlin Syndrome 6	Emphysema, Recurrent respiratory infections, Cleft palate, Thick vermilion border	OMIM:616835
Proximal Renal Tubular Acidosis	Hypokalemia, Polydipsia, Dehydration, Bicarbonaturia	ORPHA:47159
Hypermobile Ehlers-Danlos Syndrome	High, narrow palate, Thin skin, Dental crowding, Bruising susceptibility, Striae distensae, Gingi...	ORPHA:285
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Amelogenesis imperfecta, Enamel hypoplasia, Skin ulcer	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
Ablepharon-Macrostomia Syndrome	Dry skin, Redundant skin, Premature skin wrinkling	OMIM:200110
Hypothyroidism, Congenital, Nongoitrous, 2	Dry skin	OMIM:218700
Lysinuric Protein Intolerance	Pulmonary hemorrhage, Cutis laxa, Intraalveolar phospholipid accumulation, Hyperextensible skin	OMIM:222700
Kyphoscoliotic Ehlers-Danlos Syndrome	Poor wound healing, Bruising susceptibility, Soft, doughy skin, Hyperextensible skin, Follicular ...	ORPHA:536545
Wrinkly Skin Syndrome	Carious teeth, Delayed eruption of teeth, Long philtrum, Prominent veins on trunk, Intrauterine g...	ORPHA:2834
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Thickened skin, Abnormal temper tantrums, Aggressive behavior, Attention deficit hyperactivity di...	ORPHA:73223
Noonan Syndrome 1	Dry skin, Chylothorax, Lymphedema	OMIM:163950
Rajab Interstitial Lung Disease With Brain Calcifications 1	Anasarca, Emphysema, Ascites, Intrauterine growth retardation, Oligohydramnios, Abnormal pulmonar...	OMIM:613658
Scarf Syndrome	Webbed neck, Cutis laxa, Enamel hypoplasia, Long philtrum	OMIM:312830
6Q Terminal Deletion Syndrome	Hyperkeratosis	ORPHA:75857
Van Den Ende-Gupta Syndrome	High, narrow palate, Dental crowding, Narrow mouth, Everted lower lip vermilion, High palate, Cle...	OMIM:600920
Duane Retraction Syndrome	Webbed neck, Everted lower lip vermilion, Cleft palate	ORPHA:233
Xp21 Deletion Syndrome	Everted lower lip vermilion	ORPHA:261476
Leukocyte Adhesion Deficiency	Pneumonia, Abnormality of the dentition, Intrauterine growth retardation, Recurrent aphthous stom...	ORPHA:2968
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Absent uvula, Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia	OMIM:619708
Charcot-Marie-Tooth Disease Type 4B2	Tongue atrophy, Penetrating foot ulcers	ORPHA:99956
Lenz-Majewski Hyperostotic Dwarfism	Abnormality of the dentition, Microglossia, Prominent scalp veins, Intrauterine growth retardatio...	OMIM:151050
Nelson Syndrome	Hypokalemia, Striae distensae, Increased circulating cortisol level, Secondary hypercortisolism	ORPHA:199244
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Acral ulceration	OMIM:201300
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Carious teeth, Xerostomia, Selective tooth agenesis, Cleft upper lip, Microdontia, Absence of Ste...	OMIM:604292
Keutel Syndrome	Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent bronchiti...	OMIM:245150
Exercise-Induced Malignant Hyperthermia	Dry skin	ORPHA:466650
Viss Syndrome	High, narrow palate, Bifid uvula, Pulmonary artery aneurysm, Atopic dermatitis, Broad uvula, Brui...	OMIM:619472
Proteus Syndrome	Thickened skin, Pulmonary cyst, Carious teeth, Bronchogenic cyst, Vascular skin abnormality, Abno...	ORPHA:744
Wiedemann-Rautenstrauch Syndrome	Dry skin, Premature skin wrinkling	OMIM:264090
Trichorhinophalangeal Syndrome, Type Ii	Dry skin, Redundant skin in infancy, Cutis laxa	OMIM:150230
Feingold Syndrome 1	Polyhydramnios, High palate, Everted lower lip vermilion, Thick vermilion border	OMIM:164280
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Cyanosis, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infecti...	ORPHA:293987
Biliary, Renal, Neurologic, And Skeletal Syndrome	Generalized edema, Pulmonary artery dilatation, Ascites, Neonatal death, Prolonged neonatal jaund...	OMIM:619534
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Acral ulceration	OMIM:256840
Intellectual Developmental Disorder, Autosomal Dominant 38	High palate, Tented upper lip vermilion, Everted lower lip vermilion, Downturned corners of mouth	OMIM:616393
Neuropathy, Hereditary Sensory And Autonomic, Type V	Acral ulceration	OMIM:608654
Menke-Hennekam Syndrome 1	Recurrent upper respiratory tract infections, Everted upper lip vermilion, Long philtrum, Agenesi...	OMIM:618332
Nocardiosis	Pneumonia, Cutaneous abscess, Emphysema, Pleural effusion, Pneumothorax, Pleuritis	ORPHA:31204
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Long philtrum, Intrauterine growth retardation, Narrow mouth, Tented upper lip vermilion, Redunda...	ORPHA:96334
Sarcoidosis	Chylothorax, Parotitis, Emphysema, Abnormal pleura morphology, Pleural effusion, Joint swelling, ...	ORPHA:797
Pallister-Killian Syndrome	Bifid uvula, Webbed neck, Delayed eruption of teeth, Long philtrum, Polyhydramnios, Tented upper ...	OMIM:601803
Aneurysm-Osteoarthritis Syndrome	Bifid uvula, Dental malocclusion, Bruising susceptibility, Striae distensae, High palate, Cleft p...	ORPHA:284984
Cutis Laxa, Autosomal Recessive, Type Iid	Cutis laxa, Pneumothorax, Redundant skin, Reduced subcutaneous adipose tissue	OMIM:617403
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor, Everted lower lip vermilion	OMIM:253280
Cowden Syndrome	Palmoplantar keratoderma, Generalized hyperkeratosis	ORPHA:201
Insensitivity To Pain, Congenital, With Anhidrosis	Poor wound healing, Acral ulceration	OMIM:256800
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Bifid uvula, Downturned corners of mouth, Emphysema, Soft, doughy skin, Intrauterine growth retar...	ORPHA:500150
Amyloidosis, Finnish Type	Cutis laxa	OMIM:105120
Specc1L-Related Hypertelorism Syndrome	Long philtrum, Advanced eruption of teeth, Orofacial cleft, Everted lower lip vermilion, Thin ver...	ORPHA:1519
Hereditary Sensory And Autonomic Neuropathy Type 4	Dry skin	ORPHA:642
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, High palate, Deep philtrum, Everted lower lip vermilion	OMIM:613884
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Ascites, Jaundice, Prolonged neonatal jaundice, Acral ulceration	OMIM:256810
Carney Complex	Bruising susceptibility, Abnormal hard palate morphology, Striae distensae, Dorsocervical fat pad...	ORPHA:1359
Mowat-Wilson Syndrome	Bifid uvula, Tooth malposition, Submucous cleft of soft and hard palate, Dental crowding, Delayed...	ORPHA:2152
Periventricular Nodular Heterotopia 9	High palate, Gingival overgrowth, Hypoplastic philtrum, Everted upper lip vermilion	OMIM:618918
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Widely spaced teeth, Absent cupid's bow, Abnormality of the gingiva,...	ORPHA:513456
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Dry skin	ORPHA:99646
Sotos Syndrome	Small cell lung carcinoma, Abnormality of the dentition, Agenesis of permanent teeth, Flushing, H...	ORPHA:821

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

Electroretinography 3

Gross Morphology Embryo E18.5

X-ray

X-ray

X-ray

MicroCT E18.5

X-ray

X-ray

Gross Morphology Placenta E18.5

Combined SHIRPA and Dysmorphology

Electrocardiogram (ECG)

Auditory Brain Stem Response

Human diseases caused by Abca12 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data