Gene: Slc27a4 MGI:1347347

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

solute carrier family 27 (fatty acid transporter), member 4

Synonyms:

FATP4, fatty acid transport protein 4

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Slc27a4 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 Slc27a4 (2 diseases)
Human diseases predicted to be associated with Slc27a4 (1386 diseases)

The table below shows human diseases associated to Slc27a4 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Ichthyosis Prematurity Syndrome		Follicular hyperkeratosis, Erythroderma, Polyhydramnios, Generalized ichthyosis, Pruritus	OMIM:608649
Ichthyosis-Prematurity Syndrome		Ichthyosis	ORPHA:88621

The table below shows human diseases predicted to be associated to Slc27a4 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
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
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
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
Ichthyosis, Congenital, Autosomal Recessive 13	Palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis	OMIM:617574
Ichthyosis Hystrix, Lambert Type	Orthokeratotic hyperkeratosis, Hyperkeratosis	OMIM:146600
White Sponge Nevus 2	Edema, Hyperparakeratosis	OMIM:615785
Ichthyosis Bullosa Of Siemens	Congenital bullous ichthyosiform erythroderma	OMIM:146800
Ichthyosis-Impaired Intellectual Developmental Syndrome With Large Keratohyalin Granules In The Skin	Generalized ichthyosis	OMIM:601039
Acanthosis Nigricans	Acanthosis nigricans	OMIM:100600
Porokeratosis 6, Multiple Types	Porokeratosis	OMIM:612353
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Porokeratosis Of Mibelli	Pruritus, Hyperkeratosis, Porokeratosis	ORPHA:735
Porokeratosis 9, Multiple Types	Porokeratosis	OMIM:616631
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Parakeratosis, Hyperkerat...	OMIM:604117
Palmoplantar Keratoderma-Deafness Syndrome	Palmoplantar keratoderma, Hyperkeratosis	ORPHA:2202
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in fle...	OMIM:601952
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant...	OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 10	Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Erythroderma, Generaliz...	OMIM:615024
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis	ORPHA:737
Infantile Digital Fibromatosis	Parakeratosis, Hyperkeratosis	ORPHA:199267
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Palmoplantar hyperkeratosis, Hypergranulosis	OMIM:615598
Porokeratosis 8, Disseminated Superficial Actinic Type	Porokeratosis	OMIM:616063
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis	OMIM:173200
Self-Improving Collodion Baby	Ichthyosis	ORPHA:281122
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis, Pruritus, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Peeling Skin Syndrome 6	Atopic dermatitis, Parakeratosis, Pruritus, Orthokeratosis	OMIM:618084
Psoriasis 2	Parakeratosis, Psoriasiform dermatitis, Hyperkeratosis	OMIM:602723
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis	OMIM:131850
Ichthyosis With Erythrokeratoderma	Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Diffuse palmoplantar hyperkerato...	OMIM:620507
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Erythrokeratodermia Variabilis Et Progressiva 5	Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617756
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Palmoplantar hyperkeratosis, H...	OMIM:300918
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Ichthyosis Hystrix Of Curth-Macklin	Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyperkeratosis, Ichthyosis	ORPHA:79503
Ichthyosis, Congenital, Autosomal Recessive 14	Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform eryt...	OMIM:617571
Keratoderma Hereditarium Mutilans With Ichthyosis	Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis,...	ORPHA:79395
Ichthyosis, Congenital, Autosomal Recessive 5	Orthokeratosis, Palmoplantar keratoderma, Parakeratosis, Erythroderma, Congenital nonbullous icht...	OMIM:604777
Huriez Syndrome	Dry skin, Palmoplantar keratoderma, Sclerodactyly, Lack of skin elasticity	ORPHA:384
Olmsted Syndrome 2	Palmoplantar keratoderma, Perioral hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Pr...	OMIM:619208
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617526
Ichthyosis, Congenital, Autosomal Recessive 6	Orthokeratosis, Palmoplantar keratoderma, Parakeratosis, Erythroderma, Generalized ichthyosis, Hy...	OMIM:612281
Pruritic Urticarial Papules And Plaques Of Pregnancy	Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Striae distensae, Increased body wei...	ORPHA:64745
Dowling-Degos Disease 4	Pruritus, Hypergranulosis	OMIM:615696
Erythrokeratodermia Variabilis Et Progressiva 1	Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma, Generalized hyperkeratosis	OMIM:133200
Bazex Syndrome	Palmoplantar keratoderma, Parakeratosis, Acanthosis nigricans, Pruritus, Hyperkeratosis, Edema	ORPHA:166113
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Acne inversa, Chronic furunculosis, Perifolliculitis, Follicular hyperkeratosis, Recurrent cutane...	OMIM:613736
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Ulerythema Ophryogenesis	Hyperkeratotic papule, Dry skin, Facial erythema, Follicular hyperkeratosis, Contact dermatitis, ...	ORPHA:3406
Olmsted Syndrome 1	Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hyperparakeratosis, Periorifi...	OMIM:614594
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Hypotrichosis 1	Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar...	OMIM:605389
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Erythema, Atopic dermatitis, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkerat...	ORPHA:530838
Lamellar Ichthyosis	Abnormality of the dentition, Dry skin, Ichthyosis, Lack of skin elasticity, Erythroderma, Everte...	ORPHA:313
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
Hypotrichosis Simplex Of The Scalp	Atopic dermatitis, Parakeratosis, Pruritus, Hyperkeratosis	ORPHA:90368
Graham Little-Piccardi-Lassueur Syndrome	Pruritus, Perifollicular hyperkeratosis	ORPHA:505
Ichthyosis, Annular Epidermolytic, 1	Orthokeratosis, Hyperparakeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Congenital bullous i...	OMIM:607602
Aquagenic Palmoplantar Keratoderma	Atopic dermatitis, Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Excessive skin wrinkl...	ORPHA:498359
Ichthyosis Hystrix, Curth-Macklin Type	Hyperkeratotic papule, Palmoplantar keratoderma, Fragile skin, Scaling skin	OMIM:146590
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Parakeratosis, Hyperkeratosis	OMIM:618339
Insulin-Resistance Syndrome Type A	Hyperkeratosis	ORPHA:2297
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Palmoplantar keratoderma, Ichthyosis, Parakeratosis, Pruritus, Hyperkeratosis	OMIM:615821
Acquired Ichthyosis	Erythema, Palmoplantar keratoderma, Dry skin, Recurrent skin infections, Ichthyosis, Pruritus, Hy...	ORPHA:454
Familial Reactive Perforating Collagenosis	Hyperkeratotic papule, Inflammatory abnormality of the skin, Crusting erythematous dermatitis, Pe...	ORPHA:79147
Palmoplantar Keratoderma, Epidermolytic, 1	Plantar hyperkeratosis, Localized epidermolytic hyperkeratosis, Palmoplantar hyperkeratosis, Palm...	OMIM:144200
Anonychia With Flexural Pigmentation	Carious teeth, Follicular hyperkeratosis, Hyperkeratosis	ORPHA:69125
Vulvovaginal Gingival Syndrome	Parakeratosis, Pruritus	ORPHA:83453
Bathing Suit Ichthyosis	Thickened skin, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Erythroderma, Congenital ...	ORPHA:100976
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Ichthyosis, Congenital, Autosomal Recessive 8	Orthokeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis	OMIM:613943
Palmoplantar Keratoderma And Congenital Alopecia 2	Dry skin, Facial erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Sclerodactyly	OMIM:212360
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis, Hyperkeratosis	OMIM:610227
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Palmoplantar keratoderma, Lack of skin elasticity	ORPHA:1366
Ichthyosis-Hypotrichosis Syndrome	Ichthyosis	ORPHA:91132
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis	OMIM:618546
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Pruritus	ORPHA:158681
Hypotrichosis 10	Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair	OMIM:614238
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Psoriasiform lesion, Superficial dermal perivascula...	ORPHA:284426
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Palmoplantar keratoderma, Focal friction-related palmoplantar hyperkera...	ORPHA:2200
Recessive X-Linked Ichthyosis	Dry skin, Attention deficit hyperactivity disorder, Hyperkeratosis, Ichthyosis	ORPHA:461
Costello Syndrome	Abnormality of the dentition, Delayed skeletal maturation, Thick lower lip vermilion, Failure to ...	ORPHA:3071
Autosomal Dominant Epidermolytic Ichthyosis	Palmoplantar keratoderma, Ichthyosis, Erythroderma, Hyperkeratosis, Congenital bullous ichthyosif...	ORPHA:312
Hypotrichosis 11	Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Oral leukoplakia, Dry skin, Angular cheilitis, Follicular hyperkeratosis, Punctate palmoplantar h...	OMIM:616295
Acral Self-Healing Collodion Baby	Erythema, Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Lack of skin elasticity	ORPHA:281127
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Thickened skin, Palmoplantar keratoderma, Premature graying of hair, Abnormal hair morphology, Jo...	ORPHA:1979
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Ichthyosis, Pedal edema	ORPHA:75325
Lymphatic Malformation 4	Hyperkeratosis, Pedal edema, Lymphedema	OMIM:615907
Cutaneous Mastocytoma	Erythema, Thickened skin, Telangiectasia macularis eruptiva perstans, Dermatographic urticaria, A...	ORPHA:79455
Idiopathic Localized Lipodystrophy	Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Scleroderma,...	ORPHA:90158
Peeling Skin Syndrome 5	Epidermal acanthosis, Hyperkeratosis, Scaling skin	OMIM:617115
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Plantar hyperkeratosis, Pruritus	OMIM:616487
Parana Hard Skin Syndrome	Thickened skin, Hyperkeratosis	ORPHA:2812
Acrokeratosis Verruciformis	Acrokeratosis, Acantholysis, Hyperkeratosis, Punctate palmoplantar hyperkeratosis	OMIM:101900
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Dry skin, Inguinal hernia, Ichthyosis, Death in childhood, Scaling skin, Hyperkeratosis...	OMIM:614457
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma, Palmoplantar keratoderma, Ichthyosis, Hypergranulosis	OMIM:615022
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Generalized hyperkeratosis, Dry skin, Cutis laxa, Generalized ichthyosis, Epidermal acanthosis, S...	ORPHA:2269
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Abnormality of the dentition, Oral mucosal blisters, Palmar hyperkeratosis, Plantar hyperkeratosi...	ORPHA:79399
Familial Benign Chronic Pemphigus	Erythema, Acantholysis, Hyperkeratosis, Skin vesicle	ORPHA:2841
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
Netherton Syndrome	Failure to thrive, Angioedema, Eczematoid dermatitis, Hypernatremic dehydration, Parakeratosis, E...	OMIM:256500
Ledderhose Disease	Lack of skin elasticity	ORPHA:199251
Superficial Epidermolytic Ichthyosis	Erythema, Acantholysis, Palmoplantar keratoderma, Ichthyosis	ORPHA:455
Epidermolytic Hyperkeratosis 1	Palmoplantar hyperkeratosis, Erythroderma, Scaling skin, Epidermal acanthosis, Congenital bullous...	OMIM:113800
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperke...	ORPHA:2199
Pemphigus Foliaceus	Abnormal oral mucosa morphology, Erythema, Psoriasiform dermatitis, Oral ulcer, Crusting erythema...	ORPHA:79481
Psoriasis 14, Pustular	Erythema, Psoriasiform dermatitis, Pustule, Parakeratosis, Epidermal acanthosis	OMIM:614204
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Dry skin, Trichody...	ORPHA:3361
Ichthyosis With Confetti	Ichthyosis, Decreased body weight, Palmoplantar hyperkeratosis, Erythroderma, Scaling skin, Pruri...	OMIM:609165
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Xerostomia, Dry skin, Ichthyosis, Dysmetria, Parakeratosis, Acanthosis nigricans, Ataxia, Epiderm...	OMIM:618527
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,...	ORPHA:2722
Amelo-Onycho-Hypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent...	ORPHA:1028
Peeling Skin Syndrome 4	Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis	OMIM:607936
Atrophoderma Vermiculata	Hyperkeratotic papule, Erythema, Abnormal epidermal morphology, Follicular hyperkeratosis, Pruritus	ORPHA:79100
Pityriasis Rubra Pilaris	Thickened skin, Subungual hyperkeratosis, Palmoplantar keratoderma, Eczematoid dermatitis, Ichthy...	ORPHA:2897
Acral Peeling Skin Syndrome	Erythema, Eczematoid dermatitis, Excessive wrinkling of palmar skin, Ichthyosis, Scaling skin	ORPHA:263534
Disseminated Superficial Actinic Porokeratosis	Pruritus, Porokeratosis	ORPHA:79152
Erythrokeratodermia Variabilis Et Progressiva 3	Orthokeratosis, Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis	OMIM:617525
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Skin ulcer, Malar rash, Skin rash, Prur...	ORPHA:90280
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis, Oral mucosal blisters	ORPHA:89838
Tooth Agenesis, Selective, 8	Dry skin, Sparse eyebrow, Sparse hair	OMIM:617073
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Failure to thrive, Tooth agenesis, Palmoplant...	OMIM:605676
Ichthyosis, Annular Epidermolytic, 2	Erythema, Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Palmoplantar hyperkeratosis, Scal...	OMIM:620148
Congenital Disorder Of Glycosylation, Type If	Failure to thrive, Dry skin, Death in infancy, Erythroderma, Scaling skin, Ataxia, Hyperkeratosis	OMIM:609180
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Aspiration pneumonia, Respiratory distress, Weight loss, Dyspnea, Cleft palate	ORPHA:141152
Elastosis Perforans Serpiginosa	Crusting erythematous dermatitis, Hyperkeratotic papule, Cutis laxa	ORPHA:79148
Lichen Planus Pemphigoides	Abnormal oral mucosa morphology, Skin vesicle, Pruritus, Hyperkeratosis	ORPHA:254478
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer	ORPHA:409
Ichthyosis, Congenital, Autosomal Recessive 9	Orthokeratosis, Hypergranulosis, Erythroderma, Hyperkeratosis, Congenital nonbullous ichthyosifor...	OMIM:615023
Classic Phenylketonuria	Self-injurious behavior, Tremor, Lack of skin elasticity, Attention deficit hyperactivity disorde...	ORPHA:79254
Poirier-Bienvenu Neurodevelopmental Syndrome	Downturned corners of mouth, Open mouth, Protruding tongue, Smooth philtrum, Mandibular prognathia	OMIM:618732
Keratosis Palmoplantaris Striata Ii	Epidermal acanthosis, Palmoplantar keratoderma	OMIM:612908
Lipoid Proteinosis	Abnormal oral mucosa morphology, Thickened skin, Microglossia, Thick lower lip vermilion, Pustule...	ORPHA:530
Classic Mycosis Fungoides	Erythema, Eczematoid dermatitis, Skin ulcer, Dry skin, Skin rash, Pruritus, Hyperkeratosis	ORPHA:2584
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Sparse hair, Thin toenail, Dystrophic toenail	OMIM:614928
Ichthyosis, Hystrix-Like, With Deafness	Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosi...	OMIM:602540
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Diffuse palmoplantar hyperkeratosis, Acrocyanosis	ORPHA:86918
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Acanthosis nigricans	OMIM:200170
Mal De Meleda	Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Ichthyosis, Superficial...	ORPHA:87503
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Oral mucosal blisters, Pustule, Skin ve...	ORPHA:555905
Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Sjögren-Larsson Syndrome	Erythema, Abnormal dental enamel morphology, Dry skin, Ichthyosis, Hyperkeratosis	ORPHA:816
Marshall-Smith Syndrome	Failure to thrive, Gingival overgrowth, Open mouth, Protruding tongue, Increased susceptibility t...	ORPHA:561
Irida Syndrome	Abnormal intestine morphology, Hyperkeratosis, Ichthyosis, Pallor	ORPHA:209981
Werner Syndrome	Abnormal hair whorl, Sparse scalp hair, Skin ulcer, Neoplasm of the oral cavity, Premature grayin...	ORPHA:902
Chromomycosis	Hyperkeratotic papule, Predominantly lower limb lymphedema, Vascular skin abnormality, Hyperparak...	ORPHA:182
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Orthokeratosis, Dry skin, Ichthyosis, Parakeratosis, Jaundice, Epidermal acanthosis, Pruritus	OMIM:607626
Lipoid Proteinosis Of Urbach And Wiethe	Thickened skin, Hyperkeratosis, Aggressive behavior	OMIM:247100
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair	OMIM:601553
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Palmoplantar hyperkerat...	OMIM:148700
Warty Dyskeratoma	Oral mucosa nodule, Abnormal hard palate morphology, Acantholysis, Acrokeratosis, Neoplasm of the...	ORPHA:69745
Immunodeficiency 58	Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent pneumonia, Failure to thr...	OMIM:618131
Peeling Skin Syndrome 3	Erythema, White scaling skin, Pruritus	OMIM:616265
Pruritic Urticarial Papules And Plaques Of Pregnancy	Striae distensae	OMIM:178995
Striae Distensae, Familial	Striae distensae	OMIM:185200
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Widely spaced teeth, Inappropriate laughter, Abnormal eating behavior, Wid...	ORPHA:411511
Palmoplantar Carcinoma, Multiple Self-Healing	Palmoplantar keratoderma, Parakeratosis, Ectodermal dysplasia, Follicular hyperkeratosis, Epiderm...	OMIM:615225
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Palmoplantar keratoderma, Ichthyosis, Eclabion, Hyperkeratosis, Congenital nonbullous i...	OMIM:606545
Cole Disease	Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Punctate palmop...	OMIM:615522
Baralle-Macken Syndrome	High, narrow palate, Inability to walk, Striae distensae, Hirsutism, Dystonia	OMIM:619255
Antisynthetase Syndrome	Xerostomia, Skin rash, Lack of skin elasticity, Arthritis, Pulmonary fibrosis, Abnormal pulmonary...	ORPHA:81
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Widely spaced teeth, Obesity, Abnormal eating behavior, Limitation of movement at ankles, Protrud...	ORPHA:98794
Lichen Planopilaris	Skin ulcer, Neoplasm of the oral cavity, Abnormal intestine morphology, Pruritus, Hyperkeratosis	ORPHA:525
Erythrokeratodermia Variabilis	Erythema, Dry skin, Patchy palmoplantar hyperkeratosis, Skin rash, Hyperkeratosis	ORPHA:317
Ring Chromosome 22 Syndrome	Inappropriate behavior, Lymphedema, Thick eyebrow, Pleural effusion, Protruding tongue, Thick ver...	ORPHA:1446
Acute Generalized Exanthematous Pustulosis	Facial edema, Predominantly dermal neutrophilic infiltrate, Pustule, Skin vesicle, Eosinophilic d...	ORPHA:293173
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Failure to thrive, Long philtrum, Diastema, Macrodontia, Long eyelashes, Gingival ove...	OMIM:212066
Hypotrichosis 6	Erythema, Pruritus, Follicular hyperkeratosis	OMIM:607903
Keratoderma Hereditarium Mutilans	Self-injurious behavior, Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Cleft...	ORPHA:494
Pierre Robin Syndrome	Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:261800
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Thin upper lip vermilion, Follicular hyperkeratosis, Enamel hypoplasia,...	OMIM:613576
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Orthokeratosis, Palmoplantar keratoderma, Failure to thrive, Hypergranulosis, Recurrent respirato...	OMIM:615508
Neonatal Lupus Erythematosus	Malar rash, Skin rash, Cutaneous photosensitivity, Parakeratosis, Maculopapular exanthema, Hyperk...	ORPHA:398124
Darier Disease	Thickened skin, Palmoplantar keratoderma, Subungual hyperkeratotic fragments, Acrokeratosis, Skin...	ORPHA:218
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Bruxism, Upper eyelid edema, Thin eyebrow, Open mouth, Protruding tongue, Joint hypermobility, St...	OMIM:617804
Kleefstra Syndrome 1	Natal tooth, Recurrent respiratory infections, Obesity, Persistence of primary teeth, Protruding ...	OMIM:610253
Woolly Hair-Skin Fragility Syndrome	Acantholysis, Palmoplantar keratoderma	OMIM:620415
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Neonatal death, Tachypnea, Paraseptal emphysema, Reticular pattern on pulmo...	OMIM:610921
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Interstitial pneumonitis, Telangiectasia, Scali...	ORPHA:454831
Ectodermal Dysplasia/Short Stature Syndrome	Palmoplantar keratoderma, Delayed eruption of teeth, Hypodontia, Enamel hypoplasia, Dysphagia, Hy...	OMIM:616029
Perching Syndrome	Respiratory distress, Dysphagia, Cyanosis	OMIM:617055
Darier-White Disease	Enlargement of parotid gland, Subungual hyperkeratotic fragments, Acrokeratosis, Acantholysis, Pr...	OMIM:124200
Amyloidosis, Primary Localized Cutaneous, 1	Dry skin, Pruritus, Scaling skin	OMIM:105250
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e...	ORPHA:1808
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Sparse eyebrow, Fine hair, Dry skin, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair	OMIM:129490
Ehlers-Danlos Syndrome, Hypermobility Type	Loss of ambulation, Striae distensae, Hyperextensible skin, Soft skin	OMIM:130020
Schopf-Schulz-Passarge Syndrome	Hypodontia, Palmoplantar keratoderma, Hyperkeratosis, Dry skin	OMIM:224750
Flynn-Aird Syndrome	Alopecia, Carious teeth, Joint stiffness, Increased bone density with cystic changes, Alopecia of...	OMIM:136300
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Widely spaced teeth, Wide mouth, Protruding tongue, Tongue thrusting, Dysp...	ORPHA:98795
Harlequin Ichthyosis	Self-injurious behavior, Limitation of joint mobility, Congenital ichthyosiform erythroderma, Rec...	ORPHA:457
Woolly Hair, Autosomal Recessive 3	Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair	OMIM:616760
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Ichthyosis Prematurity Syndrome	Follicular hyperkeratosis, Erythroderma, Polyhydramnios, Generalized ichthyosis, Pruritus	OMIM:608649
Diffuse Cutaneous Mastocytosis	Thickened skin, Dermatographic urticaria, Generalized abnormality of skin, Erythroderma, Scaling ...	ORPHA:79456
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia, Death in infancy, Umbilical hernia	OMIM:254120
Pierre Robin Sequence With Facial And Digital Anomalies	Short distal phalanx of finger, Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:311895
Maxillonasal Dysplasia	Short distal phalanx of finger, Hypoplasia of the maxilla, Tooth agenesis, Open bite, Striae dist...	ORPHA:1248
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Dental crowding, Micrognathia, Narrow mouth, Lack of skin elasticity	OMIM:615381
Lymphatic Malformation 12	Fetal ascites, Lymphedema, Inguinal hernia, Nonimmune hydrops fetalis, Neonatal death, Death in a...	OMIM:620014
Mednik Syndrome	Hyperkeratosis, Ichthyosis	ORPHA:171851
Ichthyosis, Congenital, Autosomal Recessive 2	Erythema, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Short toe, Hypergranul...	OMIM:242100
Rothmund-Thomson Syndrome, Type 1	Conical tooth, Delayed skeletal maturation, Nail dystrophy, Absent eyelashes, Absent eyebrow, Ost...	OMIM:618625
8Q22.1 Microdeletion Syndrome	Abnormality of the dentition, Sparse eyebrow, Highly arched eyebrow, Limitation of joint mobility...	ORPHA:178303
Congenital Disorder Of Glycosylation, Type Iq	Eczematoid dermatitis, Dry skin, Ichthyosis, Cutis laxa, Hyperkeratosis, Dysphagia	OMIM:612379
Stiff Skin Syndrome	Thickened skin, Lack of skin elasticity	ORPHA:2833
Dermoodontodysplasia	Toenail dysplasia, Sparse body hair, Dry skin, Fingernail dysplasia, Trichodysplasia, Sparse scal...	ORPHA:1660
Acrokeratoelastoidosis Of Costa	Hyperkeratotic papule, Palmoplantar hyperkeratosis, Orthokeratosis, Hypergranulosis	ORPHA:38
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosi...	ORPHA:3019
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp	OMIM:617294
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress, Limitation of joint mobility	ORPHA:2680
Gaucher Disease, Perinatal Lethal	Respiratory distress, Ascites, Akinesia, Apnea, Petechiae, Ichthyosis, Decreased body weight, Non...	OMIM:608013
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Retrognathia, Protruding tongue, Death in childhood, Alveolar ridge overgrowth, Thin...	OMIM:612938
Leri Pleonosteosis	Thickened skin, Lack of skin elasticity	ORPHA:2900
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Psoriasiform lesion, Malar rash, Cutaneous photosensitivity, Vasculitis in th...	ORPHA:163525
Pleural Mesothelioma	Respiratory distress, Abnormal pleura morphology, Pleural effusion, Weight loss, Dyspnea, Abnorma...	ORPHA:50251
Isolated Pierre Robin Syndrome	Micrognathia, Glossoptosis, Cleft palate	ORPHA:718
Noonan Syndrome 8	Webbed neck, Failure to thrive, Eczematoid dermatitis, Large for gestational age, Pleural effusio...	OMIM:615355
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Failure to thrive, Long philtrum, Redundant skin, Excessive wrinkled skin, Joint hype...	OMIM:612940
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Acrokeratosis Verruciformis Of Hopf	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	ORPHA:79151
Neu-Laxova Syndrome	Bifid uvula, Osteopenia, Rickets, Osteomalacia, Abnormal hair morphology, Ichthyosis, Submucous c...	ORPHA:2671
Developmental And Epileptic Encephalopathy 80	Short distal phalanx of finger, Long philtrum, Micrognathia, Tented upper lip vermilion, Protrudi...	OMIM:618580
Angelman Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Protruding tongue, Paroxys...	OMIM:105830
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Striae distensae, Petechiae, Hyperextensible skin, Thin skin	OMIM:225310
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	High anterior hairline, Horizontal eyebrow, Tracheomalacia, Dry skin, Gingival overgrowth, Thick ...	OMIM:618797
Ectodermal Dysplasia/Skin Fragility Syndrome	Ectodermal dysplasia, Palmoplantar hyperkeratosis, Fragile skin, Scaling skin	OMIM:604536
Congenital Sialidosis Type 2	Ascites, Gingival overgrowth, Petechiae, Protruding tongue, Respiratory tract infection, Generali...	ORPHA:93400
Epidermolysis Bullosa, Lethal Acantholytic	Acantholysis, Natal tooth, Neonatal death	OMIM:609638
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Erythema, Orthokeratosis, Congenital ichthyosiform erythroderma, Umbilical hernia, Parakeratosis,...	OMIM:308050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Failure to thrive, Protruding tongue, Chronic bronchitis, Macroglossia, Bronchiectasis	OMIM:242860
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Sparse eyebrow, Tiger tail banding, Nail dystrophy, Ataxia, Sparse hair	OMIM:619692
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair	ORPHA:1008
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, High palate, Follicular hyperkeratosis	OMIM:617066
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Macroglossia, Atelectasis, Open mouth, Protruding tongue, Hypoventilation, Decreased body weight,...	ORPHA:258
Bronchopulmonary Dysplasia	Atelectasis, Respiratory distress, Emphysema, Central apnea, Hyperoxemia, Dyspnea, Abnormal lung ...	ORPHA:70589
Stuve-Wiedemann Syndrome 2	Eczematoid dermatitis, Respiratory distress, Neonatal death, Death in adolescence, Stillbirth, Ca...	OMIM:619751
Congenital Disorder Of Glycosylation, Type Iie	Retrognathia, Micrognathia, Narrow mouth, Protruding tongue, Death in infancy, Excessive wrinkled...	OMIM:608779
Aicardi-Goutieres Syndrome 5	Dry skin, Chilblains, Scaling skin	OMIM:612952
Microcephaly 26, Primary, Autosomal Dominant	Recurrent pneumonia, Prominent eyelashes, Failure to thrive, Long philtrum, Gingival overgrowth, ...	OMIM:619179
Pachyonychia Congenita	Alopecia, Palmoplantar keratoderma, Failure to thrive, Natal tooth, Oral leukoplakia, Respiratory...	ORPHA:2309
Moynahan Syndrome	Hyperkeratosis	ORPHA:2574
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Apnea, Recurrent hand flapping, Protruding tongue, Aggressive behavior, Attention deficit hyperac...	OMIM:619580
Proteus Syndrome	Mandibular hyperostosis, Open mouth, Hyperkeratosis, Facial hyperostosis	OMIM:176920
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Gait disturbance, Fine hair, Ataxia	ORPHA:1174
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Failure to thrive, Respiratory distress, Cyanosis, ...	OMIM:263000
Angelman Syndrome	Self-injurious behavior, Fair hair, Widely spaced teeth, Obesity, Inappropriate laughter, Recurre...	ORPHA:72
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar hyperkeratosis, Palmoplantar keratoderma	ORPHA:2698
Dystonia 31	Dysphagia, Abnormal posturing	OMIM:619565
Hypotrichosis 7	Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill...	OMIM:604379
Mandibuloacral Dysplasia With Type A Lipodystrophy	Alopecia, Breast aplasia, Abnormal eyebrow morphology, Lack of skin elasticity, Absent eyelashes,...	ORPHA:90153
Raine Syndrome	Mandibular prognathia, Natal tooth, Micromelia, Gingival overgrowth, Narrow mouth, Protruding ton...	OMIM:259775
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Dry skin, High palate, Abnormal elasticity of skin, Follicular hyperkeratosis	ORPHA:486815
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis	ORPHA:89843
Acrocallosal Syndrome	Everted upper lip vermilion, Open mouth, Narrow mouth, Protruding tongue, Alveolar process hypopl...	OMIM:200990
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Protruding tongue, Submucous cleft hard palate, Joint hypermobility, Thick vermi...	OMIM:618106
Peeling Skin Syndrome 2	Erythema, Scaling skin	OMIM:609796
Palmoplantar Keratoderma And Congenital Alopecia 1	Plantar hyperkeratosis, Palmoplantar erythema, Palmoplantar keratoderma, Epidermal hyperkeratosis	OMIM:104100
Peroxisome Biogenesis Disorder 1A (Zellweger)	High, narrow palate, Micrognathia, Protruding tongue, Death in childhood, Redundant neck skin, Ma...	OMIM:214100
Prolidase Deficiency	Erythema, Carious teeth, Palmoplantar keratoderma, Skin ulcer, Hypoplasia of the zygomatic bone, ...	ORPHA:742
Kid Syndrome	Folliculitis, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Failure to thrive,...	ORPHA:477
Congenital Myopathy 10A, Severe Variant	Tongue fasciculations, Failure to thrive, Camptodactyly of finger, Respiratory distress, High pal...	OMIM:614399
Chronic Mucocutaneous Candidiasis	Erythema, Skin ulcer, Abnormal lip morphology, Abnormal dental enamel morphology, Skin rash, Prur...	ORPHA:1334
Pemphigus Erythematosus	Acantholysis, Malar rash, Oral ulcer	ORPHA:79480
Ectodermal Dysplasia-Skin Fragility Syndrome	Recurrent pneumonia, Palmoplantar keratoderma, Failure to thrive, Chapped lip, Difficulty walking...	ORPHA:158668
Lethal Recessive Chondrodysplasia	Respiratory distress, Generalized osteosclerosis, Accelerated skeletal maturation, Polyhydramnios...	ORPHA:1423
Ichthyosis Vulgaris	Absent keratohyalin granules, Dry skin, Eczematoid dermatitis, Ichthyosis	OMIM:146700
Pemphigus Vulgaris	Acantholysis, Erosion of oral mucosa, Recurrent cutaneous abscess formation, Oral mucosal blisters	ORPHA:704
Pseudoxanthoma Elasticum	Striae distensae, Skin rash, Excessive wrinkled skin, Hyperextensible skin, Lack of skin elastici...	ORPHA:758
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteolysis, Respiratory distress, Failure to thrive in infancy, Osteomyelitis, Joint ...	OMIM:612852
Fontaine Progeroid Syndrome	Narrow mouth, Protruding tongue, Neonatal death, Low posterior hairline, Everted lower lip vermil...	OMIM:612289
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Facial edema, Erythema, Angioedema, Respiratory distress, Tongue edema, Laryngeal edema, Palpebra...	ORPHA:100057
Achondrogenesis, Type Ia	Unossified vertebral bodies, Pulmonary hypoplasia, Increased nuchal translucency, Protruding tong...	OMIM:200600
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse body hair, Dry skin, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse scalp hair	OMIM:618535
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Motor stereotypy, Death in infancy	OMIM:616341
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Micrognathia, Death in infancy, Hyperkeratosis, Short philtrum, Short foot, Wide mout...	ORPHA:163966
Gm1-Gangliosidosis, Type Ii	Failure to thrive, Joint stiffness, Gingival overgrowth, Narrow mouth, Protruding tongue, Dysphagia	OMIM:230600
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Failure to thrive, Eczematoid dermatitis, Respiratory distress, Inguinal hernia, Superficial derm...	ORPHA:83617
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Sparse body hair, Dry skin, Congenital onychodystrophy, Nail dyst...	ORPHA:2890
Singleton-Merten Syndrome 2	Abnormality of the dentition, Psoriasiform lesion, Hyperkeratosis	OMIM:616298
Surfactant Metabolism Dysfunction, Pulmonary, 1	Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Fai...	OMIM:265120
Recurrent Respiratory Papillomatosis	Recurrent upper respiratory tract infections, Recurrent pneumonia, Failure to thrive, Tracheomala...	ORPHA:60032
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Follicular hyperkeratosis, Hyperextensible skin	ORPHA:300179
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Failure to thrive, Respiratory distress, Oligohydramnios, Aplasia/Hypoplasia of the eyebrow, Thin...	ORPHA:261304
Hypotrichosis And Recurrent Skin Vesicles	Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Skin vesicle, Sparse axillary ha...	OMIM:613102
Respiratory Distress Syndrome In Premature Infants	Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea, Edema	OMIM:267450
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Hypoplasia of the maxilla, Micrognathia, Death in childhood, Enterocolitis, Hyperkeratosis	OMIM:301108
Familial Keratoacanthoma	Hyperkeratosis, Skin ulcer	ORPHA:493
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Respiratory distr...	OMIM:614669
Dowling-Degos Disease	Hyperkeratotic papule, Acne inversa, Skin vesicle, Pruritus, Hyperkeratosis	ORPHA:79145
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Folliculitis, Palmoplantar keratoderma, Dry skin, Facial erythema, Follicular hyperkeratosis	OMIM:308800
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Eczematoid dermatitis, Failure to thrive in infancy, Psoriasiform dermatitis, Erythroderma, Scali...	OMIM:606367
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Oxygen d...	ORPHA:2302
9q subtelomeric deletion syndrome	Protruding tongue, Synophrys	DECIPHER:52
Okur-Chung Neurodevelopmental Syndrome	Highly arched eyebrow, Failure to thrive, Frequent temper tantrums, Recurrent hand flapping, Prot...	OMIM:617062
Developmental And Epileptic Encephalopathy 31B	Choking episodes, Protruding tongue, Gingival overgrowth, Failure to thrive	OMIM:620352
Leukocyte Adhesion Deficiency Type Ii	Recurrent pneumonia, Failure to thrive, Long eyelashes, Gingival overgrowth, Protruding tongue, L...	ORPHA:99843
Kondoh Syndrome	Sparse hair, Thick eyebrow, Widow's peak	OMIM:606242
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Hyperkeratotic papule, Abnormality of the dentition, Oral mucosal blisters, Palmar hyperkeratosis...	ORPHA:79397
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis, Failure to thrive	ORPHA:91130
Monilethrix	Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma...	ORPHA:573
Ectodermal Dysplasia, Trichoodontoonychial Type	Sparse body hair, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelas...	ORPHA:1818
Ehlers-Danlos Syndrome, Classic Type, 2	Soft, doughy skin, Hyperextensible skin, Generalized joint hypermobility, Joint hypermobility, Re...	OMIM:130010
Acute Interstitial Pneumonia	Bronchiectasis, Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thick...	ORPHA:79126
Odontoonychodermal Dysplasia	Erythema, Orthokeratosis, Smooth tongue, Widely spaced primary teeth, Hypergranulosis, Agenesis o...	OMIM:257980
Radio-Tartaglia Syndrome	Small nail, Dry skin, Ataxia, Long eyebrows, High palate, Dysphagia, Motor stereotypy, High, narr...	OMIM:619312
Hypohidrotic Ectodermal Dysplasia	Abnormality of the dentition, Generalized hypopigmentation of hair, Xerostomia, Eczematoid dermat...	ORPHA:238468
High Altitude Pulmonary Edema	Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Anorexia, Dyspnea, Hypoxemia	ORPHA:330012
Mitral Valve Prolapse 1	High, narrow palate, Striae distensae, High palate	OMIM:157700
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Smooth philtrum, Mandibular prognathia, Protruding tongue, Everted lower lip vermilion	ORPHA:324410
Variegate Porphyria, Childhood-Onset	Atopic dermatitis, Short finger, Short metacarpal, Epidermal hyperkeratosis	OMIM:620483
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intralobular septal thickening, Bronchiectasis, Spontaneous pneumothorax, Failure to thrive, Recu...	OMIM:610913
Joubert Syndrome 1	Highly arched eyebrow, Episodic tachypnea, Triangular-shaped open mouth, Protruding tongue, Self-...	OMIM:213300
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Arthro...	OMIM:254210
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Hyperkeratotic papule, Carious teeth, Oral mucosal blisters, Skin vesicle, Pruritus	ORPHA:79410
Down Syndrome	Narrow palate, Abnormality of the dentition, Macroglossia, Downturned corners of mouth, Delayed s...	ORPHA:870
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Diastema, Thick lower lip vermilion, Protruding tongue, Malar flattening, ...	OMIM:301040
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Fine hair, Furrowed tongue, Gingival overgrowth, Tracheoesophageal fistula...	ORPHA:1839
Bardet-Biedl Syndrome 16	Respiratory distress, Obesity, Bronchiolitis, Recurrent respiratory infections	OMIM:615993
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Small hand, Mandibular prognathia, Thick lower lip vermilion, Striae distensae, Aggressive behavi...	OMIM:300354
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Recurrent viral upper respiratory tract i...	OMIM:619773
Kleefstra Syndrome Due To 9Q34 Microdeletion	Highly arched eyebrow, Failure to thrive, Downturned corners of mouth, Obesity, Protruding tongue...	ORPHA:96147
Meige Disease	Facial edema, Predominantly lower limb lymphedema, Lymphedema, Cobblestone-like hyperkeratosis, P...	ORPHA:90186
Gaucher Disease Type 2	Abnormal pattern of respiration, Respiratory distress, Dysphagia, Recurrent respiratory infection...	ORPHA:77260
Cardiofaciocutaneous Syndrome 3	Webbed neck, Failure to thrive, Wide mouth, Hyperkeratosis, Curly hair, Reduced bone mineral density	OMIM:615279
Phosphoserine Aminotransferase Deficiency	Death in infancy, Apnea, Cyanotic episode	OMIM:610992
Infant Acute Respiratory Distress Syndrome	Pneumonia, Atelectasis, Cyanosis, Respiratory tract infection, Pulmonary edema, Tachypnea, Nasal ...	ORPHA:70587
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis, Central apnea, Choreoathetosis, Ataxia	ORPHA:71277
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair	OMIM:158000
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Polyhydramnios, Decreased body weight	OMIM:300580
Juvenile Sialidosis Type 2	Gingival overgrowth, Dysphagia, Protruding tongue, Generalized hypertrichosis	ORPHA:93399
Ritscher-Schinzel Syndrome 2	Pulmonary artery hypoplasia, Camptodactyly of finger, Intestinal malrotation, Protruding tongue, ...	OMIM:300963
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology, Attention deficit hyperactivity disorder, Hyperkeratosis, Ichthyosis	ORPHA:281090
Trichothiodystrophy 8, Nonphotosensitive	Sparse eyebrow, Trichorrhexis nodosa, Woolly hair, Craniofacial dystonia, Cutis laxa, Head tituba...	OMIM:619691
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Natal tooth, Acne inversa, Eczematoid dermatitis, Orthokeratosis, Short...	OMIM:617337
Hereditary Sensory And Autonomic Neuropathy Type 1	Poor wound healing, Skin ulcer, Penetrating foot ulcers, Inability to walk, Gait imbalance, Stepp...	ORPHA:36386
Icf Syndrome	Macroglossia, Micrognathia, Protruding tongue	ORPHA:2268
Melkersson-Rosenthal Syndrome	Facial edema, Furrowed tongue	OMIM:155900
Gastroschisis	Abdominal wall defect, Gastroschisis	OMIM:230750
Congenital Disorder Of Glycosylation, Type Im	Inflammatory abnormality of the skin, Dry skin, Ichthyosis, Death in infancy, Hyperkeratosis	OMIM:610768
Catel-Manzke Syndrome	Highly arched eyebrow, Failure to thrive, Oral synechia, Camptodactyly of finger, Joint stiffness...	ORPHA:1388
Centrifugal Lipodystrophy	Erythema, Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Lack of faci...	ORPHA:90156
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Cryptogenic Organizing Pneumonia	Respiratory distress, Cyanosis, Weight loss, Pneumothorax, Anorexia, Dyspnea, Hypoxemia	ORPHA:1302
Seizures, Benign Familial Infantile, 3	Apnea, Cyanosis	OMIM:607745
Focal Facial Dermal Dysplasia Type Iii	Highly arched eyebrow, Sparse lateral eyebrow, Redundant skin, Distichiasis, Abnormal hair patter...	ORPHA:1807
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Toxic Epidermal Necrolysis	Erythema, Polydipsia, Skin ulcer, Recurrent respiratory infections, Respiratory distress, Abnorma...	ORPHA:537
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Atypical Werner Syndrome	Limitation of joint mobility, Neoplasm of the oral cavity, Sclerosis of hand bone, Abnormal hair ...	ORPHA:79474
Focal Facial Dermal Dysplasia 3, Setleis Type	Low anterior hairline, Distichiasis, Anal atresia, Sparse hair, Absent lower eyelashes	OMIM:227260
Peeling Skin Syndrome 1	Pruritus, Erythroderma, Scaling skin	OMIM:270300
Leopard Syndrome 3	Dry skin, Hyperkeratosis, Epidermal hyperkeratosis	OMIM:613707
Milroy Disease	Predominantly lower limb lymphedema, Erysipelas, Lymphedema, Hyperkeratosis, Pedal edema	ORPHA:79452
Seizures, Benign Familial Infantile, 1	Apnea, Cyanosis	OMIM:601764
C1Q Deficiency 2	Discoid lupus rash, Atelectasis, Malar rash, Chilblains, Facial erythema, Vasculitis in the skin,...	OMIM:620321
Poikiloderma With Neutropenia	Recurrent pneumonia, Carious teeth, Palmoplantar keratoderma, Sparse eyebrow, Long philtrum, Spar...	OMIM:604173
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair, Thin skin	ORPHA:2985
X-Linked Dystonia-Parkinsonism	Protruding tongue, Impaired oropharyngeal swallow response, Aspiration pneumonia	ORPHA:53351
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Failure to thrive, Delayed skeletal maturation, Respiratory distress, Wrist hypermobility, Joint ...	ORPHA:544503
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Woolly hair, Sparse hair	OMIM:278200
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Congenital ichthyosiform erythroderma, Sparse body hair, Curly eyelashes, Curly h...	OMIM:602400
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:619466
Aredyld	Generalized hypotrichosis	OMIM:207780
Weill-Marchesani Syndrome 2	Tooth malposition, Thickened skin, Hypoplasia of the maxilla, Short finger, Abnormal dental morph...	OMIM:608328
Craniofaciofrontodigital Syndrome	Finger joint hypermobility, Lower eyelid edema, Osteopenia, Low anterior hairline, Thick hair, Py...	ORPHA:363705
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Gingival overgrowth, Median cleft palate, Dyspnea, Gingival fibromatosis	ORPHA:1832
X-Linked Dominant Chondrodysplasia Punctata	Abnormal lung morphology, Erythroderma, Ichthyosis, Scaling skin	ORPHA:35173
Developmental And Epileptic Encephalopathy 100	Recurrent respiratory infections, Elbow flexion contracture, Gingival overgrowth, Tented upper li...	OMIM:619777
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Ascites, Pleural effusion, Cyanosis, Hydrops fetalis, Chylopericardium	ORPHA:2414
Hair Defect With Photosensitivity And Impaired Intellectual Development	Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair	OMIM:234030
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Pallor, Dysphagia, Failure to thrive	OMIM:613561
Lethal Acantholytic Erosive Disorder	Natal tooth, Congenital alopecia totalis, Absent hair, Oligohydramnios, Camptodactyly of toe, Abs...	ORPHA:158687
Netherton Syndrome	Sparse eyebrow, Sparse scalp hair, Eczematoid dermatitis, Fine hair, Emphysema, Dry skin, Abnorma...	ORPHA:634
Mpdu1-Cdg	Eczematoid dermatitis, Ichthyosis, Scaling skin	ORPHA:79323
Familial Cervical Artery Dissection	Striae distensae, Thin skin	ORPHA:36382
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Oligohydramnios, Flexion contracture, Small for gestational age, Pulmonary ...	OMIM:616733
Bacterial Toxic-Shock Syndrome	Pneumonia, Respiratory distress, Skin rash, Respiratory tract infection, Ecchymosis, Tachypnea, S...	ORPHA:36234
Fg Syndrome 3	Fine hair, Frontal upsweep of hair, Death in infancy, Hyperactivity, Sparse hair, Pyloric stenosis	OMIM:300406
Ectodermal Dysplasia 9, Hair/Nail Type	Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail...	OMIM:614931
De Sanctis-Cacchione Syndrome	Telangiectasia, Parakeratosis, Scissor gait, Ataxia, Cutaneous photosensitivity, Choreoathetosis	OMIM:278800
Degcags Syndrome	Oral-pharyngeal dysphagia, Premature graying of hair, Protruding tongue, Low posterior hairline, ...	OMIM:619488
Ullrich Congenital Muscular Dystrophy 1A	Failure to thrive, Slender build, Nocturnal hypoventilation, Increased laxity of fingers, Wrist h...	OMIM:254090
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal lip morphology, Aplasia/Hypoplasia of the tongue, Respiratory distress, Polyhydramnios, ...	ORPHA:2759
Hypotrichosis 9	Sparse eyebrow, Sparse body hair, Abnormal eyelash morphology, Abnormality of the nail, Sparse sc...	OMIM:614237
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Abnormality of the dentition, Osteopenia, Delayed eruption of teeth, Eczematoid dermatitis, Skin ...	ORPHA:2314
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Long eyelashes, Alopecia, Sparse hair, Ataxia	ORPHA:3363
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Abnormality of the dentition, Micrognathia, Glossoptosis, Cleft palate	ORPHA:3104
Neurogenic Arthrogryposis Multiplex Congenita	Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, Oligohydramnios, Knee...	ORPHA:1143
Oliver-Mcfarlane Syndrome	Long eyelashes, Long eyebrows, Alopecia, Sparse hair	OMIM:275400
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Natal tooth, Long philtrum, Protruding tongue, Accelerated skeletal maturat...	ORPHA:50945
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Wide mouth, Failure to thrive, Widely spaced teeth	OMIM:300934
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Plantar hyperkeratosis, Palmoplantar keratoderma	OMIM:615735
Myotubular Myopathy With Abnormal Genital Development	Atelectasis, Respiratory distress, Death in infancy, Neonatal death, Joint hypermobility, Polyhyd...	OMIM:300219
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Intellectual Developmental Disorder, Autosomal Dominant 62	Striae distensae	OMIM:618793
Hutchinson-Gilford Progeria Syndrome	Limitation of joint mobility, Ankyloglossia, Limited hip movement, Alopecia totalis, Short lingua...	ORPHA:740
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Hyperkeratosis	ORPHA:1883
Pitt-Hopkins-Like Syndrome 2	Hyperventilation, Wide mouth, Protruding tongue	OMIM:614325
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Small bowel diverticula, Pathologic fr...	ORPHA:90349
Gand Syndrome	Tics, Inappropriate laughter, Sparse hair, Hyperactivity	OMIM:615074
Ichthyosis-Prematurity Syndrome	Ichthyosis	ORPHA:88621
Pachyonychia Congenita 3	Palmoplantar keratoderma, Oral leukoplakia, Chapped lip, Furrowed tongue, Follicular hyperkeratos...	OMIM:615726
Ectodermal Dysplasia 4, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys...	OMIM:602032
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Dry skin, Palmoplantar keratoderma, Scaling skin	OMIM:618373
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden...	OMIM:605809
Recon Progeroid Syndrome	Progeroid facial appearance, Dry skin, Livedo reticularis, Scaling skin, Cutaneous photosensitivi...	OMIM:620370
Trichothiodystrophy 1, Photosensitive	Fine hair, Trichorrhexis nodosa, Dry skin, Tiger tail banding, Nail dystrophy, Intestinal obstruc...	OMIM:601675
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Tongue fasciculations	ORPHA:238329
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Hydromyelia, Recurrent upper respiratory tract...	OMIM:308205
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse body hair, Abnormal fingernail morphology, Sparse hair, Thin skin	ORPHA:1810
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Recurrent pneumonia, Respiratory distress, Difficulty walking, Failure to thrive in infancy, Dysp...	ORPHA:254875
Palmoplantar Keratoderma And Woolly Hair	Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair	OMIM:616099
Focal Facial Dermal Dysplasia Type I	Sparse lateral eyebrow, Low anterior hairline, Absent eyelashes, Distichiasis, Sparse hair	ORPHA:79133
Trichorhinophalangeal Syndrome, Type Iii	Dental crowding, Long philtrum, Short finger, Thin upper lip vermilion, Smooth philtrum, Short fo...	OMIM:190351
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail dysplasia, Sparse hair	ORPHA:2251
Crandall Syndrome	Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Ataxia	OMIM:619099
Riddle Syndrome	Pneumonia, Erythema, Recurrent pneumonia, Bronchitis, Recurrent sinusitis, Telangiectasia, Conjun...	ORPHA:420741
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Broad-based gait, Elevated bronchoalveolar lavage fluid neutrophil proportion, Atelectasis, Respi...	OMIM:610978
Solar Urticaria	Periorbital edema, Angioedema, Abnormal lip morphology, Abnormal tongue morphology, Dyspnea, Prur...	ORPHA:97230
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Progeroid Syndrome, Petty Type	Abnormal hair morphology, Thick eyebrow, Redundant skin, Long eyelashes in irregular rows, Genera...	ORPHA:2963
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Arthrogryposis-like hand anomaly, Respiratory distress, Recurrent acute respiratory tract infecti...	OMIM:620011
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Retrognathia, Dry skin, Death in infancy, Enamel hypoplasia,...	OMIM:614576
Graft Versus Host Disease	Pneumonia, Inflammatory abnormality of the skin, Failure to thrive, Scaling skin, Jaundice, Macul...	ORPHA:39812
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Addictive alcohol use, Tachypnea, D...	ORPHA:178320
Shukla-Vernon Syndrome	Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder, Sparse hair, Mot...	OMIM:301029
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Basan Syndrome	Epidermal acanthosis, Ectodermal dysplasia, Palmoplantar keratoderma	OMIM:129200
X-Linked Centronuclear Myopathy	Pneumonia, Recurrent respiratory infections, Respiratory distress, Polyhydramnios, High palate	ORPHA:596
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Striae distensae, Obesity, Ecchymosis, Hirsutism, Facial erythema...	OMIM:219090
Stevens-Johnson Syndrome	Erythema, Recurrent respiratory infections, Abnormal pleura morphology, Weight loss, Dyspnea, Aca...	ORPHA:36426
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Failure to thrive, Apnea, Cyanosis, Tachypnea, Pneumothorax...	ORPHA:2257
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Respiratory distress, Gait ataxia, Cachexia, Weight loss	OMIM:612075
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Exertional dyspnea, Honeycomb ...	ORPHA:2032
Arthrogryposis And Ectodermal Dysplasia	Cleft upper lip, Abnormal dental enamel morphology, Dry skin, Oligodontia, Orofacial cleft, Hyper...	OMIM:601701
Choroidal Atrophy-Alopecia Syndrome	Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T...	ORPHA:1433
Bazex-Dupré-Christol Syndrome	Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse...	ORPHA:113
Trichodental Dysplasia	Sparse hair, Slow-growing hair, Fine hair, Brittle hair	OMIM:601453
Witkop Syndrome	Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,...	OMIM:189500
Mohr-Tranebjaerg Syndrome	Dysphagia, Abnormal posturing	OMIM:304700
Pulmonary Non-Tuberculous Mycobacterial Infection	Dyspnea, Respiratory distress, Pleural effusion, Weight loss, Pneumothorax, Pericardial effusion,...	ORPHA:411703
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Dental malocclusion, Failure to thrive, Contractures of the large joints, Recurrent r...	ORPHA:329178
Geleophysic Dysplasia 1	Osteopenia, Joint contracture of the hand, Thickened skin, Long philtrum, Delayed skeletal matura...	OMIM:231050
Congenital Heart Block	Oligohydramnios, Pallor, Cyanosis, Pleural effusion, Peripheral edema, Pericardial effusion, Hydr...	ORPHA:60041
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Failure to thrive, Recurrent bronchiolitis, Pustule, Polyhydramnios, Epiderm...	OMIM:616069
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent nipple, Xerostomia, Sparse lateral eyebrow, Periorbital wrinkles, Sparse body hair, Dry sk...	OMIM:614941
Hereditary Methemoglobinemia	Cyanosis, Athetosis, Exertional dyspnea, Small for gestational age	ORPHA:621
Auriculocondylar Syndrome 4	Micrognathia, Glossoptosis, Narrow mouth, Cleft palate	OMIM:620457
Syndromic X-Linked Intellectual Disability 7	Sparse body hair	ORPHA:85274
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of the dentition, Hyperkeratosis, Skin ulcer	ORPHA:1806
Nicolaides-Baraitser Syndrome	High, narrow palate, Highly arched eyebrow, Alopecia, Long eyelashes, Curly eyelashes, Excessive ...	ORPHA:3051
Holocarboxylase Synthetase Deficiency	Ataxia, Perioral eczema, Eczematoid dermatitis, Respiratory distress, Tachypnea, Weight loss, Ano...	ORPHA:79242
Chronic Pneumonitis Of Infancy	Intercostal retractions, Failure to thrive, Respiratory distress, Cyanosis, Tachypnea, Hyperventi...	ORPHA:91359
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Trichiasis, Sparse eyebrow, Oral leukoplakia, Elbow flexion contracture, Furrowed tongue, Ichthyo...	OMIM:148210
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Atelectasis, Generalized abnormality of skin, Pleural effusion, Weight loss, D...	ORPHA:2902
Naxos Disease	Subungual hyperkeratosis, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Epiderma...	OMIM:601214
Agnathia-Otocephaly Complex	Microglossia, Tracheomalacia, Respiratory distress, Aglossia, Narrow mouth, Polyhydramnios, Cleft...	OMIM:202650
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Cutis laxa, Redundant skin, Increased number of skin folds	ORPHA:436274
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Loose anagen hair, Webbed neck, Eczematoid dermatitis, Failure to thrive, Large for gestational a...	OMIM:607721
Neuralgic Amyotrophy	Acrocyanosis, Redundant neck skin	ORPHA:2901
Myopathy And Diabetes Mellitus	Respiratory distress, Tip-toe gait, Inability to walk, Progressive cerebellar ataxia	ORPHA:2596
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Inability to walk	OMIM:617977
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis	ORPHA:1573
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Decreased cervical spine flexion due to contractures of posterior cer...	ORPHA:254361
Elastoderma	Cutis laxa, Eczematoid dermatitis, Erysipelas, Premature skin wrinkling	ORPHA:228240
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair, Death in childhood	OMIM:619985
Breath-Holding Spells	Pallor, Cyanosis	OMIM:607578
Congenital Disorder Of Glycosylation, Type Iu	Congenital contracture, Respiratory distress, Death in infancy, Thin upper lip vermilion, High pa...	OMIM:615042
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent upper respiratory tract infections, Failure to thrive, Psoriasiform lesion, Erythroderm...	ORPHA:169154
Staphylococcal Necrotizing Pneumonia	Pneumonia, Respiratory distress, Pleural effusion, Addictive alcohol use, Tachypnea, Pneumothorax...	ORPHA:36238
Cardiofaciocutaneous Syndrome	Dry skin, Excessive wrinkled skin, Low posterior hairline, Brittle hair, High palate, Sparse hair...	ORPHA:1340
Congenital Myasthenic Syndrome	Tip-toe gait, Recurrent respiratory infections, Difficulty walking, Cyanosis, Episodic respirator...	ORPHA:590
Hypotrichosis 12	Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ...	OMIM:615885
Presynaptic Congenital Myasthenic Syndromes	Tip-toe gait, Recurrent respiratory infections, Difficulty walking, Cyanosis, Episodic respirator...	ORPHA:98914
Porphyria Cutanea Tarda	Poor wound healing, Cutaneous abscess, Addictive alcohol use, Fragile skin, Scaling skin, Cutaneo...	ORPHA:101330
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Neuromuscular dysphagia, Falls	ORPHA:240085
Hidrotic Ectodermal Dysplasia, Halal Type	Follicular hyperkeratosis, Retrognathia	ORPHA:1809
Kindler Epidermolysis Bullosa	Cheilitis, Inflammation of the large intestine, Carious teeth, Periodontitis, Palmoplantar kerato...	ORPHA:2908
Restrictive Dermopathy 1	Pulmonary hypoplasia, Epidermal hyperkeratosis, Oligohydramnios, Neonatal death, Prominent superf...	OMIM:275210
Laryngotracheal Angioma	Respiratory distress, Apnea, Intercostal retractions, Cyanosis	ORPHA:137935
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Weight loss, Honeycomb lung, Dyspnea,...	ORPHA:79127
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Microglossia, Retrognathia, Short thumb, Micrognathia, Narrow mouth, Neonatal d...	OMIM:227270
Restrictive Dermopathy 2	Respiratory distress, Thickened skin, Cyanosis, Scleroderma	OMIM:619793

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