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 (1294 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		Allergic rhinitis, Erythroderma, Pruritus, Dermatographic urticaria, Polyhydramnios, Follicular h...	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, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis	OMIM:146750
Keratosis, Focal Palmoplantar And Gingival	Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperke...	OMIM:148730
Erythrokeratodermia Variabilis Et Progressiva 6	Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis	OMIM:618531
Palmoplantar Keratoderma, Norrbotten Recessive Type	Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis	OMIM:244850
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2	Palmoplantar keratoderma, Hyperkeratosis	OMIM:616400
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema	ORPHA:86923
Palmoplantar Keratoderma, Punctate Type Iii	Acrokeratosis, Hyperkeratosis	OMIM:101850
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement	Congenital ichthyosiform erythroderma, Hyperkeratosis	OMIM:270220
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	Porokeratosis, Parakeratosis	OMIM:614714
Peeling Skin Syndrome 6	Pruritus, Orthokeratosis, Parakeratosis	OMIM:618084
Ichthyosis, Congenital, Autosomal Recessive 13	Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617574
White Sponge Nevus 2	Edema, Hyperparakeratosis	OMIM:615785
Ichthyosis Bullosa Of Siemens	Congenital bullous ichthyosiform erythroderma	OMIM:146800
Ichthyosis-Mental Retardation Syndrome With Large Keratohyalin Granules In The Skin	Generalized ichthyosis	OMIM:601039
Acanthosis Nigricans	Acanthosis nigricans	OMIM:100600
Ichthyosis Hystrix Gravior	Ichthyosis	OMIM:146600
Porokeratosis 6, Multiple Types	Porokeratosis	OMIM:612353
Ichthyosis Hystrix, Curth-Macklin Type	Ichthyosis	OMIM:146590
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Porokeratosis 9, Multiple Types	Porokeratosis	OMIM:616631
Porokeratosis Of Mibelli	Pruritus, Porokeratosis, Hyperkeratosis	ORPHA:735
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Erythrokeratodermia Variabilis Et Progressiva 5	Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617756
Vohwinkel Syndrome, Variant Form	Hypergranulosis, Orthokeratosis, Hyperkeratosis, Parakeratosis	OMIM:604117
Cole Disease	Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis	OMIM:615522
Mental Retardation, Fra12A Type	Hyperkeratosis	OMIM:136630
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	Linear arrays of macular hyperkeratoses in flexural areas, Parakeratosis, Congenital nonbullous i...	OMIM:601952
Porokeratosis 3, Multiple Types	Porokeratosis, Parakeratosis	OMIM:175900
Porokeratosis Plantaris Palmaris Et Disseminata	Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis	ORPHA:737
Epidermolysis Bullosa Dystrophica, Pretibial	Pruritus, Hyperkeratosis	OMIM:131850
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Acrokeratosis Verruciformis	Acrokeratosis, Hyperkeratosis	OMIM:101900
Porokeratosis 8, Disseminated Superficial Actinic Type	Porokeratosis	OMIM:616063
Self-Improving Collodion Baby	Ichthyosis	ORPHA:281122
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Orthokeratosis	OMIM:173200
Porokeratosis 1, Multiple Types	Porokeratosis, Parakeratosis	OMIM:175800
Peeling Skin Syndrome 5	Hyperkeratosis	OMIM:617115
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis	OMIM:148500
Psoriasis 2	Hyperkeratosis, Psoriasiform dermatitis, Parakeratosis	OMIM:602723
Palmoplantar Keratoderma, Nagashima Type	Hypergranulosis, Orthokeratotic hyperkeratosis	OMIM:615598
Ichthyosis, Congenital, Autosomal Recessive 5	Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr...	OMIM:604777
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Ichthyosis Hystrix Of Curth-Macklin	Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis	ORPHA:79503
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis, Palmoplantar h...	OMIM:300918
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Keratoderma Hereditarium Mutilans With Ichthyosis	Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Congenital nonbullous ichthyosiform ery...	ORPHA:79395
Ichthyosis, Congenital, Autosomal Recessive 14	Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis	OMIM:617571
Huriez Syndrome	Dry skin, Palmoplantar keratoderma, Lack of skin elasticity, Sclerodactyly	ORPHA:384
Olmsted Syndrome 2	Pruritus, Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Palmo...	OMIM:619208
Erythrokeratodermia Variabilis Et Progressiva 3	Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis	OMIM:617525
Pruritic Urticarial Papules And Plaques Of Pregnancy	Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Stria...	ORPHA:64745
Pachyonychia Congenita 4	Palmoplantar keratoderma, Hyperkeratosis	OMIM:615728
Ichthyosis, Congenital, Autosomal Recessive 6	Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr...	OMIM:612281
Bazex Syndrome	Acanthosis nigricans, Pruritus, Edema, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis	ORPHA:166113
Erythrokeratodermia Variabilis Et Progressiva 1	Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generalized hyperkeratosis	OMIM:133200
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll...	OMIM:613736
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis, Hyperkeratosis	OMIM:610227
Ichthyosis, Congenital, Autosomal Recessive 9	Hypergranulosis, Congenital ichthyosiform erythroderma	OMIM:615023
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Erythrokeratodermia Variabilis Et Progressiva 4	Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:617526
Krt1-Related Diffuse Nonepidermolytic Keratoderma	Atopic dermatitis, Dry skin, Erythema, Abnormal umbilicus morphology, Scaling skin, Nonepidermoly...	ORPHA:530838
Olmsted Syndrome 1	Pruritus, Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis	OMIM:614594
Hypotrichosis Simplex Of The Scalp	Hyperkeratosis, Pruritus, Atopic dermatitis, Parakeratosis	ORPHA:90368
Lamellar Ichthyosis	Erythroderma, Pruritus, Lack of skin elasticity, Everted lower lip vermilion, Ichthyosis, Hyperke...	ORPHA:313
Graham Little-Piccardi-Lassueur Syndrome	Perifollicular hyperkeratosis, Pruritus	ORPHA:505
Verrucous Hemangioma	Hyperkeratotic papule, Inflammatory abnormality of the skin	ORPHA:464318
Ichthyosis With Confetti	Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis	OMIM:609165
Hypotrichosis 1	Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo...	OMIM:605389
Aquagenic Palmoplantar Keratoderma	Atopic dermatitis, Orthokeratotic hyperkeratosis, Edema, Palmoplantar keratoderma, Palmar pruritus	ORPHA:498359
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Palmoplantar keratoderma, Erythroderma, Congenital ichthyosiform erythroderma	OMIM:615024
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Pruritus, Palmoplantar keratoderma, Parakeratosis, Ichthyosis, Hyperkeratosis	OMIM:615821
Insulin-Resistance Syndrome Type A	Hyperkeratosis	ORPHA:2297
Trichothiodystrophy 7, Nonphotosensitive	Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:618546
Ichthyosis, Congenital, Autosomal Recessive 8	Hypergranulosis, Orthokeratosis, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma	OMIM:613943
Anonychia With Flexural Pigmentation	Carious teeth, Follicular hyperkeratosis, Hyperkeratosis	ORPHA:69125
Acquired Ichthyosis	Pruritus, Erythema, Palmoplantar keratoderma, Recurrent skin infections, Ichthyosis, Hyperkeratos...	ORPHA:454
Palmoplantar Keratoderma, Epidermolytic	Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Localized epidermolyt...	OMIM:144200
Vulvovaginal Gingival Syndrome	Pruritus, Parakeratosis	ORPHA:83453
Familial Reactive Perforating Collagenosis	Hyperkeratotic papule, Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Abnormal...	ORPHA:79147
Bathing Suit Ichthyosis	Erythroderma, Thickened skin, Parakeratosis, Congenital nonbullous ichthyosiform erythroderma, Ic...	ORPHA:100976
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis	OMIM:618339
Dowling-Degos Disease 4	Hypergranulosis	OMIM:615696
Ichthyosis, Congenital, Autosomal Recessive 1	Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, Parakeratosis	OMIM:242300
Hypotrichosis 4	Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair	OMIM:146550
Hypotrichosis Simplex	Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ...	ORPHA:55654
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Palmoplantar keratoderma, Lack of skin elasticity	ORPHA:1366
Ichthyosis-Hypotrichosis Syndrome	Ichthyosis	ORPHA:91132
Palmoplantar Keratoderma, Punctate Type Ia	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Orthokeratosis	OMIM:148600
Palmoplantar Keratoderma And Congenital Alopecia 2	Sclerodactyly, Facial erythema, Hyperkeratosis, Dry skin, Palmoplantar hyperkeratosis	OMIM:212360
Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis	Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:607602
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Pruritus, Parakeratosis	ORPHA:158681
Parana Hard Skin Syndrome	Respiratory insufficiency, Restricted chest movement, Thickened skin, Generalized hirsutism, Hype...	ORPHA:2812
Lymphatic Malformation 4	Lymphedema, Hyperkeratosis	OMIM:615907
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato...	ORPHA:284426
Cutaneous Mastocytoma	Peau d'orange, Angioedema, Pruritus, Thickened skin, Erythema, Telangiectasia of the skin, Dermat...	ORPHA:79455
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Circumungual hyperkeratosis, Palmoplantar keratoderma, Gingival hyperke...	ORPHA:2200
Costello Syndrome	Thick lower lip vermilion, Failure to thrive in infancy, Acanthosis nigricans, Abnormal hair morp...	ORPHA:3071
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Abnormal hair morphology, Weight loss, Palmoplantar keratoderma, Thickened skin, Reduce...	ORPHA:1979
Ichthyosis, Spastic Quadriplegia, And Mental Retardation	Erythema, Scaling skin, Asthma, Ichthyosis, Hyperkeratosis, Dry skin, Inguinal hernia	OMIM:614457
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosif...	ORPHA:312
Acral Self-Healing Collodion Baby	Palmoplantar scaling skin, Erythema, Lack of skin elasticity, Localized epidermolytic hyperkeratosis	ORPHA:281127
Idiopathic Localized Lipodystrophy	Inflammatory abnormality of the skin, Pruritus, Erythema, Reduced subcutaneous adipose tissue, Mo...	ORPHA:90158
Loose Anagen Hair Syndrome	Loose anagen hair, Sparse hair, Fair hair	OMIM:600628
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Pedal edema, Ichthyosis	ORPHA:75325
Congenital Disorder Of Glycosylation, Type If	Erythroderma, Failure to thrive, Ataxia, Scaling skin, Hyperkeratosis, Dry skin	OMIM:609180
Witkop Syndrome	Fine hair, Small nail, Ridged nail, Concave nail, Sparse hair, Nail pits	OMIM:189500
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Dry skin, Cutis laxa, Generalized ichthyosis, Scaling skin, Generalized hyperkeratosis, Unsteady ...	ORPHA:2269
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Netherton Syndrome	Allergic rhinitis, Erythroderma, Angioedema, Failure to thrive, Hypernatremic dehydration, Parake...	OMIM:256500
Ichthyosis, Congenital, Autosomal Recessive 7	Hypergranulosis, Palmoplantar keratoderma, Erythroderma, Ichthyosis	OMIM:615022
Hypotrichosis 11	Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil...	OMIM:615059
Singleton-Merten Syndrome 2	Hyperkeratosis	OMIM:616298
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Pruritus, Palmar hyperkeratosis, Hyperkeratosis, Abnormality of the dentition, Plantar hyperkerat...	ORPHA:79399
Psoriasis 14, Pustular	Psoriasiform dermatitis, Pustule, Erythema, Parakeratosis, Epidermal acanthosis	OMIM:614204
Cerebellar Ataxia And Ectodermal Dysplasia	Ataxia, Alopecia, Sparse hair	OMIM:212835
Epidermolytic Hyperkeratosis	Erythroderma, Scaling skin, Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkera...	OMIM:113800
Ledderhose Disease	Lack of skin elasticity	ORPHA:199251
Trichodysplasia-Xeroderma Syndrome	Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, D...	ORPHA:3361
Trichodysplasia-Xeroderma	Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ...	OMIM:190360
Familial Benign Chronic Pemphigus	Hyperkeratosis, Erythema, Acantholysis, Skin vesicle	ORPHA:2841
Odonto-Onycho Dysplasia-Alopecia Syndrome	Sparse and thin eyebrow, Alopecia, Hypoplastic toenails, Abnormal fingernail morphology, Sparse h...	ORPHA:2722
Antisynthetase Syndrome	Dysphagia, Respiratory insufficiency, Xerostomia, Pruritus, Edema, Pulmonary arterial hypertensio...	ORPHA:81
Epidermolytic Palmoplantar Keratoderma	Epidermal hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Di...	ORPHA:2199
Isolated Congenital Hypoglossia/Aglossia	Cleft palate, Weight loss, Microglossia, Upper airway obstruction, Respiratory distress, Dyspnea,...	ORPHA:141152
Ectodermal Dysplasia/Short Stature Syndrome	Hypodontia, Enamel hypoplasia, Dysphagia, Hyperkeratosis	OMIM:616029
Disseminated Superficial Actinic Porokeratosis	Pruritus, Porokeratosis	ORPHA:79152
Immunodeficiency 58	Eczema, Chronic bronchitis, Ichthyosis, Recurrent respiratory infections, Chronic pulmonary obstr...	OMIM:618131
Hypotrichosis 7	Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Woolly hair	OMIM:604379
Atrophoderma Vermiculata	Hyperkeratotic papule, Pruritus, Erythema, Abnormal epidermal morphology, Follicular hyperkeratosis	ORPHA:79100
Acral Peeling Skin Syndrome	Eczema, Erythema, Ichthyosis, Scaling skin, Excessive wrinkling of palmar skin	ORPHA:263534
Hypotrichosis 13	Sparse and thin eyebrow, Sparse hair, Woolly hair	OMIM:615896
Pemphigus Foliaceus	Psoriasiform dermatitis, Erythroderma, Pustule, Acantholysis, Pruritus, Erythema, Abnormal oral m...	ORPHA:79481
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Pruritus, Palmoplantar hyperkeratosis, Oral mucosal blisters, Hyperkeratosis	ORPHA:89838
Pityriasis Rubra Pilaris	Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritus, Thickened skin, Palmoplantar k...	ORPHA:2897
Hypotrichosis 14	Sparse hair, Sparse body hair	OMIM:618275
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal dental enamel morphology, Advanced eruption of teeth, Delayed eruption of teeth, Abnorma...	ORPHA:1028
Recessive X-Linked Ichthyosis	Dry skin, Ichthyosis, Hyperkeratosis	ORPHA:461
Chilblain Lupus	Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Cutis marmorata, Mala...	ORPHA:90280
Superficial Epidermolytic Ichthyosis	Erythema, Palmoplantar keratoderma, Acantholysis, Ichthyosis	ORPHA:455
Oculotrichodysplasia	Dry skin, Sparse eyelashes, Sparse lateral eyebrow, Sparse scalp hair, Sparse pubic hair, General...	OMIM:257960
Ichthyosis, Congenital, Autosomal Recessive 3	Eclabion, Erythema, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, H...	OMIM:606545
Classic Phenylketonuria	Tremor, Attention deficit hyperactivity disorder, Hypopigmentation of hair, Lack of skin elasticity	ORPHA:79254
Tooth Agenesis, Selective, 8	Dry skin, Sparse hair, Sparse eyebrow	OMIM:617073
Peeling Skin Syndrome 4	Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis	OMIM:607936
Hypotrichosis 10	Sparse eyelashes, Sparse eyebrow, Sparse body hair	OMIM:614238
Lichen Planus Pemphigoides	Abnormal oral mucosa morphology, Pruritus, Hyperkeratosis, Skin vesicle	ORPHA:254478
Hyperkeratosis Lenticularis Perstans	Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Poirier-Bienvenu Neurodevelopmental Syndrome	Smooth philtrum, Mandibular prognathia, Downturned corners of mouth, Open mouth, Protruding tongue	OMIM:618732
Palmoplantar Carcinoma, Multiple Self-Healing	Follicular hyperkeratosis, Palmoplantar keratoderma, Parakeratosis	OMIM:615225
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa	ORPHA:79148
Classic Mycosis Fungoides	Eczema, Pruritus, Erythema, Skin rash, Hyperkeratosis, Dry skin, Skin ulcer	ORPHA:2584
Lipoid Proteinosis	Thick lower lip vermilion, Dysphagia, High palate, Pustule, Tongue nodules, Thickened skin, Micro...	ORPHA:530
Keratosis Palmoplantaris Striata Ii	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:612908
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Palmoplantar keratoderma, Epidermal acanthosis	OMIM:615735
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis, Diffuse palmoplantar hyperkeratosis	ORPHA:86918
Ectodermal Dysplasia 6, Hair/Nail Type	Thin toenail, Alopecia, Sparse hair, Dystrophic toenail	OMIM:614928
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Acanthosis nigricans	OMIM:200170
Mal De Meleda	Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Er...	ORPHA:87503
Porokeratosis	Pruritus, Hyperkeratosis	ORPHA:79358
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Plantar hyperkeratosis	OMIM:616487
Pachyonychia Congenita 1	Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Ulerythema Ophryogenesis	Hyperkeratotic papule, Contact dermatitis, Acne, Follicular hyperkeratosis, Facial erythema, Dry ...	ORPHA:3406
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Marshall-Smith Syndrome	Failure to thrive, Increased susceptibility to fractures, Craniosynostosis, Gingival overgrowth, ...	ORPHA:561
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Micrognathia, Narrow mouth, Lack of skin elasticity, Dental crowding, Scleroderma	OMIM:615381
Chromomycosis	Hyperkeratotic papule, Lymphedema, Vascular skin abnormality, Pruritus, Edema, Hyperparakeratosis...	ORPHA:182
Ichthyosis, Congenital, Autosomal Recessive 2	Short finger, Erythema, Palmoplantar keratoderma, Short toe, Hypergranulosis, Congenital nonbullo...	OMIM:242100
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Parakeratosis, Jaundice, Orthokeratosis, Ichthyosis, Dry skin, Epidermal acanthosis	OMIM:607626
Perching Syndrome	Dysphagia, High palate, Respiratory distress, Flexion contracture, Camptodactyly	OMIM:617055
Diffuse Cutaneous Mastocytosis	Wheezing, Erythroderma, Peau d'orange, Pruritus, Thickened skin, Dermatographic urticaria, Genera...	ORPHA:79456
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset	Dysphagia, Cleft palate, High palate, Respiratory insufficiency, Failure to thrive, Respiratory f...	OMIM:614399
Ectodermal Dysplasia 9, Hair/Nail Type	Absent hair, Nail dystrophy, Atrichia, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair	OMIM:614931
Sjögren-Larsson Syndrome	Erythema, Abnormal dental enamel morphology, Ichthyosis, Hyperkeratosis, Dry skin	ORPHA:816
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Streaks of hyperkeratosis along each fin...	OMIM:148700
Warty Dyskeratoma	Neoplasm of the tongue, Acantholysis, Abnormality of the alveolar ridges, Abnormal hard palate mo...	ORPHA:69745
Iga Pemphigus	Oral mucosal blisters, Pustule, Acantholysis, Pruritus, Neutrophilic infiltration of the skin, Ul...	ORPHA:555905
Pierre Robin Syndrome	Micrognathia, Cleft palate, Pierre-Robin sequence, Glossoptosis	OMIM:261800
Hidrotic Ectodermal Dysplasia	Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A...	ORPHA:189
Pruritic Urticarial Papules And Plaques Of Pregnancy	Striae distensae	OMIM:178995
Striae Distensae, Familial	Striae distensae	OMIM:185200
Surfactant Metabolism Dysfunction, Pulmonary, 3	Neonatal respiratory distress, Desquamative interstitial pneumonitis, Death in infancy, Nonspecif...	OMIM:610921
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis, High palate	OMIM:617066
Alopecia, Congenital	Alopecia, Sparse hair	OMIM:300042
Irida Syndrome	Abnormal intestine morphology, Pallor, Ichthyosis, Hyperkeratosis	ORPHA:209981
Bronchopulmonary Dysplasia	Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac...	ORPHA:70589
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Erythroderma, Pruritus, Dermatographic urticaria, Polyhydramnios, Follicular h...	OMIM:608649
Peeling Skin Syndrome 1	Scaling skin, Pruritus, Erythema, Asthma	OMIM:270300
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Pili torti, Reduced terminal:vellus ratio, Sparse hair	OMIM:601553
Pierre Robin Sequence With Facial And Digital Anomalies	Micrognathia, Cleft palate, Pierre-Robin sequence, Glossoptosis, Short distal phalanx of finger	OMIM:311895
Ichthyosis Vulgaris	Eczematoid dermatitis, Asthma, Ichthyosis, Absent keratohyalin granules, Dry skin	OMIM:146700
Ichthyosis, Hystrix-Like, With Deafness	Palmoplantar keratoderma, Erythroderma, Ichthyosis, Hyperkeratosis	OMIM:602540
Erythrokeratodermia Variabilis	Patchy palmoplantar hyperkeratosis, Erythema, Skin rash, Hyperkeratosis, Dry skin	ORPHA:317
Lichen Planopilaris	Abnormal intestine morphology, Pruritus, Neoplasm of the oral cavity, Hyperkeratosis, Skin ulcer	ORPHA:525
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Scaling skin, Palmoplantar keratoderma, Angular cheilitis, Hyperkeratosis	OMIM:616295
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan	Alopecia, Sparse hair	OMIM:203600
Hypotrichosis 6	Pruritus, Follicular hyperkeratosis, Erythema	OMIM:607903
Neonatal Lupus Erythematosus	Cutaneous photosensitivity, Parakeratosis, Malar rash, Skin rash, Maculopapular exanthema, Hyperk...	ORPHA:398124
Asbestos Intoxication	Wheezing, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea, Restrictive ventilatory de...	ORPHA:2302
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Erythroderma, Acantholysis, Palmoplantar keratoderma, Hypergranulosis, O...	OMIM:615508
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Neonatal respiratory distress, Wide mouth, Low anterior hairline, High anterior hairline, Gingiva...	OMIM:618797
Ectodermal Dysplasia/Skin Fragility Syndrome	Scaling skin, Ectodermal dysplasia, Palmoplantar hyperkeratosis, Fragile skin	OMIM:604536
Pleural Mesothelioma	Dysphagia, Abnormal respiratory system physiology, Weight loss, Cough, Respiratory distress, Abno...	ORPHA:50251
Baralle-Macken Syndrome	Dystonia, High, narrow palate, Hirsutism, Striae distensae, Inability to walk	OMIM:619255
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Enamel hypoplasia, Follicular hyperkeratosis, Thin upper lip vermilion,...	OMIM:613576
Isolated Pierre Robin Syndrome	Micrognathia, Cleft palate, Glossoptosis	ORPHA:718
Pemphigus Vulgaris	Abnormal oral cavity morphology, Acantholysis, Recurrent cutaneous abscess formation	ORPHA:704
Maxillonasal Dysplasia	Cleft palate, Microdontia, Open bite, Mandibular prognathia, Striae distensae, Short distal phala...	ORPHA:1248
Interstitial Pneumonitis, Desquamative, Familial	Desquamative interstitial pneumonitis, Tachypnea, Failure to thrive, Cough, Respiratory distress,...	OMIM:263000
Flynn-Aird Syndrome	Increased bone density with cystic changes, Carious teeth, Alopecia of scalp, Osteoporosis, Alope...	OMIM:136300
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse eyelashes, Abnormal hair morphology, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sp...	ORPHA:1808
Darier Disease	Pruritus, Subungual hyperkeratotic fragments, Palmoplantar keratoderma, Thickened skin, Acrokerat...	ORPHA:218
Ring Chromosome 22 Syndrome	Edema, Thick eyebrow, Thick vermilion border, Pleural effusion, Protruding tongue, Lymphedema	ORPHA:1446
Angelman Syndrome Due To A Point Mutation	Widely spaced teeth, Dysphagia, Wide mouth, Mandibular prognathia, Drooling, Abnormal eating beha...	ORPHA:411511
Werner Syndrome	Neoplasm of the lung, Pulmonary artery stenosis, Osteoporosis, Slender build, White forelock, Neo...	ORPHA:902
Harlequin Ichthyosis	Eclabion, Respiratory insufficiency, Erythroderma, Ichthyosis, Limitation of joint mobility, Hype...	ORPHA:457
Robin Sequence-Oligodactyly Syndrome	Micrognathia, Cleft palate, Hand oligodactyly, Glossoptosis, Abnormality of the dentition	ORPHA:3104
Woolly Hair, Autosomal Recessive 3	Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair	OMIM:616760
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Erythroderma, Ectodermal dysplasia, Inguinal hernia, Follicular hyperkeratosis, Oligohydramnios, ...	OMIM:308205
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Chronic bronchitis, Pneumonia, Bronchiectasis, Macroglossia, Failure to thrive, Malabs...	OMIM:242860
Darier-White Disease	Acantholysis, Pruritus, Subungual hyperkeratotic fragments, Acrokeratosis, Enlargement of parotid...	OMIM:124200
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Dysphagia, Intercostal muscle weakness, Respiratory insufficiency, Macroglossia, Impaired mastica...	ORPHA:258
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss	Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair	OMIM:617294
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Fine hair, Sparse eyelashes, Nail dysplasia, Slow-growing hair, Dry skin, Sparse and thin eyebrow...	OMIM:129490
8Q22.1 Microdeletion Syndrome	Highly arched eyebrow, Sparse eyelashes, Long philtrum, Craniosynostosis, Abnormal hair pattern, ...	ORPHA:178303
Noonan Syndrome 8	Eczema, Palmoplantar cutis laxa, Failure to thrive, Webbed neck, Large for gestational age, Polyh...	OMIM:615355
Down Syndrome	Thick lower lip vermilion, Aganglionic megacolon, Microdontia, Macroglossia, Obesity, Anal atresi...	ORPHA:870
Dermoodontodysplasia	Fingernail dysplasia, Thin skin, Dry skin, Sparse scalp hair, Trichodysplasia, Sparse body hair, ...	ORPHA:1660
Recurrent Respiratory Papillomatosis	Wheezing, Dysphagia, Stridor, Respiratory insufficiency, Tachypnea, Failure to thrive, Choking ep...	ORPHA:60032
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Widely spaced teeth, Dysphagia, Wide mouth, Limitation of movement at ankles, Drooling, Abnormal ...	ORPHA:98794
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Neu-Laxova Syndrome	Cleft palate, Abnormal hair morphology, Rickets, Submucous cleft hard palate, Abnormality of the ...	ORPHA:2671
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Umbilical hernia, Erythema, Stillbirth, Parakeratosis, Hyperkeratosis, Pulmonary hypoplasia, Cong...	OMIM:308050
Congenital Disorder Of Glycosylation, Type Iia	Diastema, Hirsutism, Wide mouth, Failure to thrive, Long eyelashes, Gingival overgrowth, Thin ver...	OMIM:212066
Amyloidosis, Primary Localized Cutaneous, 1	Scaling skin, Pruritus, Dry skin, Cutis laxa	OMIM:105250
Rothmund-Thomson Syndrome, Type 1	Nail dystrophy, Osteoporosis, Absent eyebrow, Absent eyelashes, Conical tooth, Delayed skeletal m...	OMIM:618625
Ramon Syndrome	Abnormal dental enamel morphology, Delayed eruption of teeth, Narrow palate, Hyperkeratosis, Ging...	ORPHA:3019
Congenital Disorder Of Glycosylation, Type Iq	Eczema, Cutis laxa, Ichthyosis, Hyperkeratosis	OMIM:612379
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress, Limitation of joint mobility	ORPHA:2680
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Tongue edema, Pharyngeal edema, Angioedema, Swollen lip, Erythema, Facial edema, Upper airway obs...	ORPHA:100057
Mednik Syndrome	Ichthyosis, Hyperkeratosis	ORPHA:171851
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Widely spaced teeth, Dysphagia, Wide mouth, Mandibular prognathia, Protruding tongue	ORPHA:98795
Stiff Skin Syndrome	Thickened skin, Lack of skin elasticity	ORPHA:2833
Leri Pleonosteosis	Thickened skin, Lack of skin elasticity	ORPHA:2900
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Desquamative interstitial pneumonitis, Death in infancy, Tachypnea...	OMIM:265120
Developmental And Epileptic Encephalopathy 80	Micrognathia, High palate, Smooth philtrum, Wide mouth, Death in infancy, Long philtrum, Tented u...	OMIM:618580
Keratoderma Hereditarium Mutilans	Cleft palate, Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis	ORPHA:494
Surfactant Metabolism Dysfunction, Pulmonary, 2	Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor...	OMIM:610913
Acrokeratoelastoidosis Of Costa	Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis, Hypergranulosis	ORPHA:38
Congenital Sialidosis Type 2	Petechiae, Ascites, Edema, Gingival overgrowth, Respiratory tract infection, Generalized hypertri...	ORPHA:93400
Acrokeratosis Verruciformis Of Hopf	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis	ORPHA:79151
Aicardi-Goutieres Syndrome 5	Dry skin, Chilblains, Scaling skin	OMIM:612952
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Cleft palate, Macroglossia, Bifid uvula, Patent ductus arteriosus, Retrognathia, Protruding tongue	OMIM:612938
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis	OMIM:615632
Cholesterol Pneumonia	Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis	OMIM:215030
Raine Syndrome	Micrognathia, High palate, Cleft palate, Microdontia, Wide mouth, Mandibular prognathia, Neonatal...	OMIM:259775
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Orthokeratosis, Acne inversa, Hyperkeratosis	OMIM:617337
Ehlers-Danlos Syndrome, Hypermobility Type	Hyperextensible skin, Soft skin, Striae distensae	OMIM:130020
Kleefstra Syndrome 1	Tracheobronchomalacia, U-Shaped upper lip vermilion, Macroglossia, Obesity, Recurrent respiratory...	OMIM:610253
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Striae distensae, Hyperextensible skin, Thin skin, Petechiae	OMIM:225310
Rare Cutaneous Lupus Erythematosus	Deep dermal perivascular inflammatory infiltrate, Pustule, Cutaneous photosensitivity, Psoriasifo...	ORPHA:535
Moynahan Syndrome	Cachexia, Alopecia, Sparse hair, Hyperkeratosis	ORPHA:2574
Ectodermal Dysplasia 4, Hair/Nail Type	Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na...	OMIM:602032
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Nonimmune hydrops fetalis, Dysphagia, Petechiae, Ascites, Neonatal d...	OMIM:608013
Fontaine Progeroid Syndrome	Smooth philtrum, Hypoplastic nipples, Death in infancy, Oligodontia, Neonatal death, Dermal trans...	OMIM:612289
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair	ORPHA:1008
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Abnormal elasticity of skin, High palate, Respiratory insufficiency ...	ORPHA:486815
Proteus Syndrome	Facial hyperostosis, Mandibular hyperostosis, Open mouth, Hyperkeratosis	OMIM:176920
Lethal Recessive Chondrodysplasia	Macroglossia, Generalized osteosclerosis, Edema, Polyhydramnios, Respiratory distress, Accelerate...	ORPHA:1423
Ectodermal Dysplasia-Skin Fragility Syndrome	Failure to thrive, Pruritus, Chapped lip, Palmoplantar keratoderma, Follicular hyperkeratosis, Re...	ORPHA:158668
Cryptogenic Organizing Pneumonia	Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Weight loss, Cough, Respirat...	ORPHA:1302
Mandibuloacral Dysplasia With Type A Lipodystrophy	High palate, Alopecia, Absent eyelashes, Abnormal eyebrow morphology, Thin skin, Lack of skin ela...	ORPHA:90153
Hypotrichosis And Recurrent Skin Vesicles	Sparse eyelashes, Sparse eyebrow, Sparse scalp hair, Leukonychia, Sparse axillary hair, Sparse ha...	OMIM:613102
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Acantholysis, Neonatal death	OMIM:609638
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation	Macroglossia, Protruding tongue	OMIM:227250
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Eczema, Xerostomia, Failure to thrive, Breast aplasia, Generalized hypopigmentation of...	ORPHA:238468
Melkersson-Rosenthal Syndrome	Furrowed tongue, Facial edema	OMIM:155900
Dystonia 31	Dysphagia, Abnormal posturing	OMIM:619565
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome	Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis	ORPHA:2698
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Hyperkeratosis	ORPHA:89843
Angelman Syndrome	Widely spaced teeth, Wide mouth, Macroglossia, Mandibular prognathia, Drooling, Hypoplasia of the...	OMIM:105830
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia...	OMIM:614929
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Fine hair, Gait disturbance, Sparse hair, Ataxia	ORPHA:1174
Hereditary Sensory And Autonomic Neuropathy Type 1	Gait imbalance, Steppage gait, Penetrating foot ulcers, Cough, Inability to walk, Poor wound heal...	ORPHA:36386
Hypotrichosis 8	Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,...	OMIM:278150
Gaucher Disease Type 2	Dystonia, Dysphagia, Abnormal pattern of respiration, Cough, Respiratory distress, Recurrent resp...	ORPHA:77260
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Subpleural honeycombing, Crackles, Pericard...	ORPHA:79126
Peroxisome Biogenesis Disorder 1A (Zellweger)	High, narrow palate, Micrognathia, High palate, Redundant neck skin, Macroglossia, Malar flatteni...	OMIM:214100
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Eczema, Superficial dermal perivascular inflammatory infiltrate, Failure to thrive, Seborrheic de...	ORPHA:83617
Skin Fragility-Woolly Hair Syndrome	Sparse eyelashes, Acantholysis, Failure to thrive, Nail dystrophy, Alopecia, Palmoplantar keratos...	OMIM:607655
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Micrognathia, Death in infancy, Wide mouth, Short philtrum, Rhizomelia, Short foot, Short palm, H...	ORPHA:163966
Palmoplantar Keratoderma And Congenital Alopecia 1	Epidermal hyperkeratosis, Palmoplantar erythema, Palmoplantar keratoderma, Plantar hyperkeratosis	OMIM:104100
Myasthenic Syndrome, Congenital, 6, Presynaptic	Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respi...	OMIM:254210
Microcephaly 26, Primary, Autosomal Dominant	Long philtrum, Prominent eyelashes, Failure to thrive, Gingival overgrowth, Recurrent pneumonia, ...	OMIM:619179
Dowling-Degos Disease	Hyperkeratotic papule, Pruritus, Acne inversa, Anal margin squamous cell carcinoma, Hyperkeratosi...	ORPHA:79145
Kid Syndrome	Psoriasiform dermatitis, Folliculitis, Recurrent cutaneous abscess formation, Progeroid facial ap...	ORPHA:477
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related	High palate, Long philtrum, Macroglossia, Webbed neck, Obesity, Protruding tongue, Dental crowdin...	OMIM:141750
Dyskeratosis Congenita, Autosomal Recessive 6	Ataxia, Nail dystrophy, Alopecia, Sparse hair	OMIM:616353
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, Obesity, Bronchiolitis	OMIM:615993
Pachyonychia Congenita	Failure to thrive, Nail dystrophy, Alopecia, Palmoplantar keratoderma, Linear arrays of macular h...	ORPHA:2309
Chronic Mucocutaneous Candidiasis	Abnormal lip morphology, Cheilitis, Pruritus, Erythema, Abnormal dental enamel morphology, Abnorm...	ORPHA:1334
Geographic And Fissured Tongue	Geographic tongue, Furrowed tongue	OMIM:137400
Pseudoxanthoma Elasticum	High palate, Excessive wrinkled skin, Pruritus, Acne, Striae distensae, Lack of skin elasticity, ...	ORPHA:758
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Protruding tongue, Short philtrum, Patent ductus arteriosus	OMIM:300963
Prolidase Deficiency	Carious teeth, Micrognathia, Pruritus, Erythema, Palmoplantar keratoderma, Hypoplasia of the zygo...	ORPHA:742
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Short philtrum, Failure to thrive, Thin vermilion border, Thin skin, Respiratory distress, Oligoh...	ORPHA:261304
Pili Torti-Onychodysplasia Syndrome	Cleft palate, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Nail dystrophy, Congenita...	ORPHA:2890
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, Erythroderma, Chronic oral candidi...	OMIM:606367
Catel-Manzke Syndrome	Highly arched eyebrow, Cleft palate, Failure to thrive, Glossoptosis, Camptodactyly of finger, Jo...	ORPHA:1388
Mitochondrial Complex I Deficiency, Nuclear Type 30	Respiratory failure, Neonatal death, Redundant skin	OMIM:301021
Cyanosis And Hepatic Disease	Cyanosis, Dyspnea	OMIM:219400
Peeling Skin Syndrome 2	Scaling skin, Erythema	OMIM:609796
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Failure to thrive in infancy, Pustule, Stomatitis, Osteomyelitis, Fused cervical vertebrae, Respi...	OMIM:612852
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Wheezing, Hypoxemia, Honeycomb lung, Chronic pulmonary obstruction, Chronic bronchitis, Bronchiec...	ORPHA:79127
Classic Glucose Transporter Type 1 Deficiency Syndrome	Dystonia, Central apnea, Ataxia, Cyanosis, Lethargy	ORPHA:71277
Leukocyte Adhesion Deficiency Type Ii	Broad eyebrow, Premature loss of teeth, Low anterior hairline, Long upper lip, Small for gestatio...	ORPHA:99843
Riddle Syndrome	Telangiectasia, Gait disturbance, Pneumonia, Weight loss, Chronic sinusitis, Erythema, Conjunctiv...	ORPHA:420741
Pemphigus Erythematosus	Oral ulcer, Malar rash, Acantholysis	ORPHA:79480
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Failure to thrive, Edema, Recurrent pneumonia, Recurrent bronchiolitis, Dehydration, Epi...	OMIM:616069
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness, Decreased body weight, Po...	OMIM:300580
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Dysphagia, Failure to thrive in infancy, Respiratory insufficiency, Respiratory insufficiency due...	ORPHA:254875
Ectodermal Dysplasia, Trichoodontoonychial Type	Abnormal eyelash morphology, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Spar...	ORPHA:1818
Familial Keratoacanthoma	Skin ulcer, Hyperkeratosis	ORPHA:493
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Follicular hyperkeratosis, Hyperextensible skin	ORPHA:300179
Solar Urticaria	Wheezing, Abnormal lip morphology, Angioedema, Pruritus, Edema, Abnormal tongue morphology, Dyspn...	ORPHA:97230
Idiopathic Bronchiectasis	Wheezing, Productive cough, Cachexia, Crackles, Abnormal respiratory system physiology, Bronchiec...	ORPHA:60033
Monilethrix	Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,...	ORPHA:573
Meige Disease	Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Recurrent bacter...	ORPHA:90186
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Facial erythema, Dry skin	OMIM:308800
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Auriculocondylar Syndrome 2	Mandibular condyle aplasia, Micrognathia, Cleft palate, Glossoptosis, Short mandibular rami, Narr...	OMIM:614669
Ehlers-Danlos Syndrome, Classic Type, 2	Generalized joint laxity, Joint hypermobility, Soft, doughy skin, Hyperextensible skin, Soft skin...	OMIM:130010
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Polyhydra...	ORPHA:2759
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Failure to thrive, Respiratory distress, Cyanosis	ORPHA:91130
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Smooth philtrum, Protruding tongue, Everted lower lip vermilion	ORPHA:324410
Lethal Acantholytic Erosive Disorder	Congenital alopecia totalis, Cleft palate, Acantholysis, Absent hair, Absent eyebrow, Absent eyel...	ORPHA:158687
Congenital Disorder Of Glycosylation, Type Iie	Smooth philtrum, Hypertrichosis, Respiratory insufficiency, Low anterior hairline, Failure to thr...	OMIM:608779
Down Syndrome	Aganglionic megacolon, Duodenal stenosis, Macroglossia, Malar flattening, Anal atresia, Short mid...	OMIM:190685
Apnea, Central Sleep	Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration	OMIM:207720
Leukodystrophy, Hypomyelinating, 17	Widely spaced teeth, Hirsutism, Gingival overgrowth, Respiratory distress, Flexion contracture	OMIM:618006
Hereditary Mucoepithelial Dysplasia	Fine hair, Alopecia, Gingival overgrowth, Furrowed tongue, Tracheoesophageal fistula, Pulmonary f...	ORPHA:1839
9q subtelomeric deletion syndrome	Protruding tongue, Synophrys	DECIPHER:52
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Hyperkeratotic papule, Palmar hyperkeratosis, Abnormality of the dentition, Plantar hyperkeratosi...	ORPHA:79397
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Widow's peak, Sparse hair, Thick eyebrow	OMIM:606242
Mitral Valve Prolapse 1	High, narrow palate, High palate, Striae distensae	OMIM:157700
Congenital Pulmonary Lymphangiectasia	Chylopericardium, Chronic pulmonary obstruction, Ascites, Pulmonary arterial hypertension, Cough,...	ORPHA:2414
Respiratory Distress Syndrome In Premature Infants	Neonatal respiratory distress, Tachypnea, Edema, Respiratory distress, Pulmonary edema, Dyspnea, ...	OMIM:267450
Icf Syndrome	Macroglossia, Micrognathia, Protruding tongue, Malabsorption	ORPHA:2268
Lethal Osteosclerotic Bone Dysplasia	Median cleft lip and palate, Gingival fibromatosis, Gingival overgrowth, Respiratory distress, Re...	ORPHA:1832
Craniofaciofrontodigital Syndrome	Pyloric stenosis, Congenital, generalized hypertrichosis, Palmoplantar cutis laxa, Long philtrum,...	ORPHA:363705
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Carious teeth, Hyperkeratotic papule, Pruritus, Oral mucosal blisters, Skin vesicle	ORPHA:79410
Ullrich Congenital Muscular Dystrophy 1	High palate, Respiratory insufficiency, Failure to thrive, Respiratory insufficiency due to muscl...	OMIM:254090
Kleefstra Syndrome Due To 9Q34 Microdeletion	Highly arched eyebrow, Macroglossia, Failure to thrive, Downturned corners of mouth, Everted lowe...	ORPHA:96147
Toxic Epidermal Necrolysis	Dysphagia, Acantholysis, Polydipsia, Weight loss, Erythema, Cough, Respiratory distress, Abnormal...	ORPHA:537
Monilethrix	Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair	OMIM:158000
Degcags Syndrome	Pyloric stenosis, Smooth philtrum, Choking episodes, Delayed skeletal maturation, Oral-pharyngeal...	OMIM:619488
Weill-Marchesani Syndrome 2	High palate, Short finger, Short metatarsal, Thickened skin, Tooth malposition, Striae distensae,...	OMIM:608328
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Stridor, Choking episodes, Cough, Impaired oropharyngeal swallow r...	ORPHA:2004
Centrifugal Lipodystrophy	Inflammatory abnormality of the skin, Lack of facial subcutaneous fat, Erythema, Reduced subcutan...	ORPHA:90156
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
X-Linked Dystonia-Parkinsonism	Protruding tongue, Aspiration pneumonia, Impaired oropharyngeal swallow response	ORPHA:53351
Cardiofaciocutaneous Syndrome 3	Wide mouth, Failure to thrive, Webbed neck, Reduced bone mineral density, Curly hair, Hyperkeratosis	OMIM:615279
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Juvenile Sialidosis Type 2	Dysphagia, Generalized hypertrichosis, Gingival overgrowth, Protruding tongue	ORPHA:93399
Autosomal Recessive Cutis Laxa Type 1	Pyloric stenosis, Cutis laxa, Respiratory insufficiency, Peripheral pulmonary artery stenosis, Pn...	ORPHA:90349
Gastroschisis	Gastroschisis, Abdominal wall defect	OMIM:230750
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Pachyonychia Congenita 3	Chapped lip, Palmoplantar keratoderma, Furrowed tongue, Gingivitis, Oral leukoplakia, Hyperkerato...	OMIM:615726
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Wheezing, Hypoxemia, Dystonia, Neonatal respiratory distress, Crackles, Tachypnea, Elevated bronc...	OMIM:610978
Pseudoprogeria Syndrome	Alopecia, Absent eyebrow, Absent eyelashes, Thin skin, Sparse and thin eyebrow, Sparse hair	ORPHA:2985
Mpdu1-Cdg	Scaling skin, Eczema, Ichthyosis	ORPHA:79323
Woolly Hair	Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g...	ORPHA:170
Milroy Disease	Lymphedema, Hyperkeratosis, Pedal edema, Erysipelas, Predominantly lower limb lymphedema	ORPHA:79452
Angelman Syndrome	Widely spaced teeth, Dysphagia, Wide mouth, Polyphagia, Mandibular prognathia, Drooling, Protrudi...	ORPHA:72
Palmoplantar Keratoderma And Woolly Hair	Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Woolly hair, Leukonychia, Sparse sc...	OMIM:616099
Pilodental Dysplasia With Refractive Errors	Conical incisor, Hypodontia, Follicular hyperkeratosis	OMIM:262020
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Hypoxemia, Failure to thrive in infancy, Crackles, Tachypnea, Cough, Respir...	ORPHA:264675
Bacterial Toxic-Shock Syndrome	Sinusitis, Ecchymosis, Pneumonia, Tachypnea, Edema, Respiratory distress, Respiratory tract infec...	ORPHA:36234
Focal Facial Dermal Dysplasia 3, Setleis Type	Absent lower eyelashes, Low anterior hairline, Anal atresia, Distichiasis, Sparse hair	OMIM:227260
Hutchinson-Gilford Progeria Syndrome	Dystrophic toenail, Delayed eruption of teeth, Reduced bone mineral density, Exertional dyspnea, ...	ORPHA:740
Radio-Tartaglia Syndrome	Highly arched eyebrow, High, narrow palate, Small nail, Hirsutism, High palate, High anterior hai...	OMIM:619312
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Odontoonychodermal Dysplasia	Hypodontia, Erythema, Hypergranulosis, Abnormality of primary teeth, Orthokeratosis, Dry skin, Sm...	OMIM:257980
Laryngotracheal Angioma	Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions	ORPHA:137935
Short Chain Acyl-Coa Dehydrogenase Deficiency	Dystonia, Respiratory distress, Failure to thrive, Lethargy	ORPHA:26792
Focal Facial Dermal Dysplasia Type Iii	Highly arched eyebrow, Sparse lateral eyebrow, Abnormal hair pattern, Anal atresia, Sparse lower ...	ORPHA:1807
Auriculocondylar Syndrome 3	Retrognathia, Micrognathia, Bifid uvula, Glossoptosis	OMIM:615706
Hair Defect With Photosensitivity And Mental Retardation	Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair	OMIM:234030
Netherton Syndrome	Fine hair, Eczema, Sparse eyelashes, Abnormal hair morphology, Erythroderma, Acanthosis nigricans...	ORPHA:634
X-Linked Dominant Chondrodysplasia Punctata	Scaling skin, Erythroderma, Ichthyosis, Abnormal lung morphology	ORPHA:35173
Pulmonary Non-Tuberculous Mycobacterial Infection	Chronic pulmonary obstruction, Crackles, Pericardial effusion, Bronchiectasis, Pneumothorax, Weig...	ORPHA:411703
Infant Acute Respiratory Distress Syndrome	Hypoxemia, Pneumonia, Tachypnea, Respiratory tract infection, Pulmonary edema, Cyanosis, Respirat...	ORPHA:70587
Pitt-Hopkins-Like Syndrome 2	Protruding tongue, Wide mouth, Hyperventilation, Drooling	OMIM:614325
Ichthyosis, Congenital, Autosomal Recessive 12	White scaling skin	OMIM:617320
Peeling Skin Syndrome 3	White scaling skin	OMIM:616265
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Respiratory distress, Oligohydramnios, Flexion contracture, Pulmonary ...	OMIM:616733
Pulmonary Alveolar Proteinosis, Acquired	Hypoxemia, Lung abscess, Pneumonia, Cough, Cyanosis, Recurrent respiratory infections, Decreased ...	OMIM:610910
Premature Aging Syndrome, Penttinen Type	Micrognathia, Thin vermilion border, Delayed eruption of teeth, Hyperkeratosis, Hypoplasia of the...	OMIM:601812
Leopard Syndrome 3	Dry skin, Epidermal hyperkeratosis, Hyperkeratosis	OMIM:613707
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respi...	OMIM:605809
Growth Factors, Combined Defect Of	Micrognathia, Narrow mouth, Plantar hyperkeratosis, Scleroderma	OMIM:233805
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Neurogenic Arthrogryposis Multiplex Congenita	Ankle flexion contracture, Hip contracture, Respiratory insufficiency due to muscle weakness, Kne...	ORPHA:1143
Geleophysic Dysplasia 1	Smooth philtrum, Wide mouth, Long philtrum, Thickened skin, Short metacarpals with rounded proxim...	OMIM:231050
Atypical Werner Syndrome	Abnormal hair morphology, Reduced bone mineral density, White forelock, Increased bone mineral de...	ORPHA:79474
Aredyld	Generalized hypotrichosis	OMIM:207780
Familial Cervical Artery Dissection	Thin skin, Striae distensae	ORPHA:36382
Epilepsy, Pyridoxine-Dependent	Respiratory distress, Neonatal respiratory distress	OMIM:266100
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked	Thick lower lip vermilion, U-Shaped upper lip vermilion, Macroglossia, Malar flattening, Absent f...	OMIM:301040
Oliver-Mcfarlane Syndrome	Long eyebrows, Sparse hair, Long eyelashes, Alopecia	OMIM:275400
Cutis Laxa, Autosomal Recessive, Type Iiib	Fine hair, Cutis laxa, Excessive wrinkled skin, Thin skin, Dermal translucency, Sparse hair	OMIM:614438
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Dry skin, Sparse eyelashes, Sparse body hair, Slow-growing hair	OMIM:618535
Juvenile Idiopathic Arthritis	Psoriasiform dermatitis, Pericardial effusion, Thickened skin, Malabsorption, Arthritis, Skin ras...	ORPHA:92
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Carious teeth, Hypodontia, Thickened skin, Erythema, Abnormality of the gingiva, Palmoplantar ker...	ORPHA:659
Stevens-Johnson Syndrome	Dysphagia, Acantholysis, Weight loss, Erythema, Cough, Recurrent respiratory infections, Abnormal...	ORPHA:36426
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy	Omphalocele, Small for gestational age, Diastasis recti, Scaling skin, Dry skin	OMIM:618419
Popov-Chang syndrome	Long philtrum, Small hand, Short foot, Thick vermilion border, Hyperkeratosis, Dry skin, Thin upp...	OMIM:618428
Congenital Myasthenic Syndrome	Respiratory arrest, Dysphagia, Stridor, Apneic episodes precipitated by illness, fatigue, stress,...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Respiratory arrest, Dysphagia, Stridor, Apneic episodes precipitated by illness, fatigue, stress,...	ORPHA:98914
Blomstrand Lethal Chondrodysplasia	Long philtrum, Polyhydramnios, Synostosis of joints, Increased bone mineral density, Accelerated ...	ORPHA:50945
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Dystonia, Falls, Bradykinesia, Respiratory distress, Neuromuscular dysphagia	ORPHA:240085
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Sparse hair, Sparse body hair, Thin skin	ORPHA:1810
Schopf-Schulz-Passarge Syndrome	Small nail, Apocrine hidrocystoma, Onycholysis, Ridged nail, Thin nail, Narrow nail, Sparse hair,...	OMIM:224750
Trichothiodystrophy 1, Photosensitive	Fine hair, Tiger tail banding, Erythroderma, Small for gestational age, Brittle hair, Nail dystro...	OMIM:601675
Chronic Pneumonitis Of Infancy	Hypoxemia, Tachypnea, Failure to thrive, Cough, Respiratory distress, Cyanosis, Intercostal retra...	ORPHA:91359
Intellectual Developmental Disorder, Autosomal Dominant 62	Striae distensae	OMIM:618793
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Thick lower lip vermilion, Wide mouth, Macroglossia, Mandibular prognathia, Small hand, Striae di...	OMIM:300354
Macs Syndrome	Thick lower lip vermilion, Irregular dentition, High palate, Cutis laxa, Eclabion, Bronchiectasis...	OMIM:613075
Primary Pulmonary Hypoplasia	Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumothorax, Failure...	ORPHA:2257
Menkes Disease	Sparse hair, Cutis laxa, Death in childhood	OMIM:309400
Congenital Disorder Of Glycosylation, Type Iy	Widely spaced teeth, Respiratory distress, Wide mouth, Failure to thrive	OMIM:300934
Filippi Syndrome	Dystonia, Frontal hirsutism, Sparse hair, Hypertrichosis	OMIM:272440
Graft Versus Host Disease	Inflammatory abnormality of the skin, Pneumonia, Failure to thrive, Maculopapular exanthema, Scal...	ORPHA:39812
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency, Tongue fasciculations	ORPHA:238329
Joubert Syndrome 1	Highly arched eyebrow, Central apnea, Triangular-shaped open mouth, Macroglossia, Episodic tachyp...	OMIM:213300
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Hypodontia, Abnormality of primary molar morphology, Micrognathia, Gingival bleeding, Limb underg...	OMIM:225410
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Hyperkeratosis	ORPHA:1883
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Congenital Tracheomalacia	Wheezing, Neonatal respiratory distress, Apnea, Decreased peak expiratory flow, Emphysema, Respir...	ORPHA:95430
Staphylococcal Necrotizing Pneumonia	Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Pulmonary pneumatocele, Cough, Pleural empyema, Re...	ORPHA:36238
Faciocardiomelic Dysplasia, Lethal	Micrognathia, Neonatal death, Microglossia, Fibular hypoplasia, Hypoplasia of the radius, Short 5...	OMIM:227270
Focal Facial Dermal Dysplasia Type I	Low anterior hairline, Sparse lateral eyebrow, Absent eyelashes, Distichiasis, Sparse hair	ORPHA:79133
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Death in infancy, Esophageal varix, Patent ductus arteriosus...	OMIM:614576
Ichthyosis-Prematurity Syndrome	Ichthyosis	ORPHA:88621
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Apnea, Protruding tongue, Drooling	OMIM:619580
Congenital Disorder Of Glycosylation, Type Ix	Failure to thrive, Respiratory distress, Death in childhood	OMIM:615597
Crandall Syndrome	Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair	ORPHA:202
Basan Syndrome	Palmoplantar keratoderma, Ectodermal dysplasia, Epidermal acanthosis	OMIM:129200
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pneumonia, Bronchiectasis, Psoriasiform lesion, Failure to thrive, Recurrent pneumonia, Asthma, C...	OMIM:614700
Syndromic Recessive X-Linked Ichthyosis	Abnormality of the abdominal wall, Abdominal wall defect, Ichthyosis, Hyperkeratosis, Attention d...	ORPHA:281090
Progeroid Syndrome, Petty Type	Long eyelashes in irregular rows, Abnormal hair morphology, Cutis laxa, Brittle hair, Thick eyebr...	ORPHA:2963
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Fingernail dysplasia, Alopecia, Ridged fingernail, Sparse hair	ORPHA:2251
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Hypodontia, Failure to thrive, Joint hypermobility, Respiratory distress, Finger joint hypermobil...	ORPHA:544503
Bazex-Dupré-Christol Syndrome	Sparse and thin eyebrow, Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse or absent eyelashe...	ORPHA:113
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Ataxia	OMIM:619099
Mass Syndrome	Striae distensae	OMIM:604308
Neuralgic Amyotrophy	Acrocyanosis, Respiratory insufficiency	ORPHA:2901
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Hypoxemia, Crackles, Weight loss, Cough, Cyanosis, Decreased DLCO, Restrict...	ORPHA:747
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Cerebrooculofacioskeletal Syndrome 2	Death in infancy, Sparse hair, Death in childhood	OMIM:610756
X-Linked Centronuclear Myopathy	High palate, Pneumonia, Polyhydramnios, Respiratory distress, Recurrent respiratory infections, R...	ORPHA:596
Reactive Arthritis	Inflammation of the large intestine, Pustule, Dystrophic fingernails, Respiratory insufficiency, ...	ORPHA:29207
Arthrogryposis And Ectodermal Dysplasia	Cleft palate, Oligodontia, Cleft upper lip, Abnormal dental enamel morphology, Hyperkeratosis, Dr...	OMIM:601701
Congenital Disorder Of Glycosylation, Type Iu	Neonatal respiratory distress, High palate, Death in infancy, Respiratory distress, Thin upper li...	OMIM:615042
Combined Oxidative Phosphorylation Deficiency 19	Failure to thrive, Respiratory distress	OMIM:615595
Ehlers-Danlos Syndrome, Periodontal Type, 1	Alveolar bone loss around teeth, Premature loss of teeth, Palmoplantar cutis laxa, Gingival bleed...	OMIM:130080
Plummer-Vinson Syndrome	Dysphagia, Geophagia, Cheilitis, Esophageal web, Narrow mouth, Glossitis, Tongue atrophy, Intra-o...	ORPHA:54028
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec...	OMIM:619466
Severe Acute Respiratory Syndrome	Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea...	ORPHA:140896
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair	Sparse eyelashes, Sparse hair, Sparse eyebrow, Hypoplastic toenails	OMIM:616901
Acquired Hypertrichosis Lanuginosa	Fine hair, Acanthosis nigricans, Macroglossia, Weight loss, Thickened skin, Abnormal eyebrow morp...	ORPHA:2221
Pulmonary Capillary Hemangiomatosis	Hypoxemia, Pericardial effusion, Pulmonary capillary hemangiomatosis, Pedal edema, Interlobular s...	ORPHA:199241
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	High palate, Low anterior hairline, Failure to thrive, Deep philtrum, Osteopenia, Polyhydramnios,...	ORPHA:329178
Trichodental Dysplasia	Fine hair, Brittle hair, Sparse hair, Slow-growing hair	OMIM:601453
Syndromic X-Linked Intellectual Disability 7	Sparse body hair	ORPHA:85274
Acute Lung Injury	Hypoxemia, Pneumonia, Tachypnea, Edema, Respiratory distress, Abnormal pulmonary interstitial mor...	ORPHA:178320
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse eyelashes, Hypoplastic nipples, Xerostomia, Sparse lateral eyebrow, Rhinitis, Sparse scalp...	OMIM:614941
Ichthyosis, Congenital, Autosomal Recessive 11	Congenital ichthyosiform erythroderma, Hyperkeratosis	OMIM:602400
Anaplastic Thyroid Carcinoma	Dysphagia, Neoplasm of the lung, Stridor, Weight loss, Cough, Upper airway obstruction, Respirato...	ORPHA:142
Cutis Laxa, Autosomal Dominant 1	Progeroid facial appearance, Prematurely aged appearance, Emphysema, Redundant skin, Inguinal hernia	OMIM:123700
Infantile-Onset X-Linked Spinal Muscular Atrophy	Interphalangeal joint contracture of finger, Ankle flexion contracture, High palate, Hip contract...	ORPHA:1145
Coffin-Siris Syndrome 3	Hypertrichosis, Hirsutism, Macroglossia, Long eyelashes, Thick eyebrow, Sparse scalp hair, Sparse...	OMIM:614608
Hypertrichosis-Acromegaloid Facial Appearance Syndrome	Gingival overgrowth, Furrowed tongue, Everted lower lip vermilion, Generalized hirsutism, Thick v...	ORPHA:966
Lelis Syndrome	Carious teeth, Hypodontia, Acanthosis nigricans, Mandibular prognathia, Furrowed tongue, Abnormal...	ORPHA:140936
Pulmonary Alveolar Microlithiasis	Pleural thickening, Exertional dyspnea, Restrictive ventilatory defect, Respiratory failure, Incr...	ORPHA:60025
Choroidal Atrophy-Alopecia Syndrome	Fine hair, Ungual fibroma, Abnormal toenail morphology, Sparse or absent eyelashes, Abnormal fing...	ORPHA:1433
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Bronchiolitis obliterans, Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, B...	ORPHA:1303
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Alopecia, Absent eyebrow, Absent eyelashes, Thin skin, Abnormality of the nail, Sparse hair, Toen...	OMIM:607823
Breath-Holding Spells	Cyanosis, Pallor	OMIM:607578
Bilateral Perisylvian Polymicrogyria	Distal arthrogryposis, Dysphagia, Pseudobulbar paralysis, Apnea, Drooling, Aspiration, Flexion co...	ORPHA:98889
Gm1 Gangliosidosis	Dystonia, Aplasia/Hypoplasia of the abdominal wall musculature, Dysphagia, Gait disturbance, Fail...	ORPHA:354
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of the dentition, Skin ulcer, Hyperkeratosis	ORPHA:1806
Myopathy And Diabetes Mellitus	Progressive cerebellar ataxia, Respiratory distress, Inability to walk, Tip-toe gait	ORPHA:2596
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Redundant skin, Cutis laxa, Increased number of skin folds	ORPHA:436274
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Erythroderma, Psoriasiform lesion, Failure to thrive, Recurrent lower respiratory tract infection...	ORPHA:169154
Myotubular Myopathy With Abnormal Genital Development	High palate, Death in infancy, Neonatal death, Polyhydramnios, Joint hypermobility, Respiratory d...	OMIM:300219
Elastoderma	Premature skin wrinkling, Eczema, Cutis laxa, Erysipelas	ORPHA:228240
Chitayat Syndrome	Polyhydramnios, Respiratory distress, Abnormal pulmonary interstitial morphology, Thick vermilion...	OMIM:617180
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate	Sparse hair

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