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 |
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Fine hair, Ungual fibroma, Abnormal toenail morphology, Sparse or absent eyelashes, Abnormal fing... |
ORPHA:1433 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
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Bronchiolitis obliterans, Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, B... |
ORPHA:1303 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
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Alopecia, Absent eyebrow, Absent eyelashes, Thin skin, Abnormality of the nail, Sparse hair, Toen... |
OMIM:607823 |
Breath-Holding Spells |
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Cyanosis, Pallor |
OMIM:607578 |
Bilateral Perisylvian Polymicrogyria |
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Distal arthrogryposis, Dysphagia, Pseudobulbar paralysis, Apnea, Drooling, Aspiration, Flexion co... |
ORPHA:98889 |
Gm1 Gangliosidosis |
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Dystonia, Aplasia/Hypoplasia of the abdominal wall musculature, Dysphagia, Gait disturbance, Fail... |
ORPHA:354 |
Ectodermal Dysplasia-Blindness Syndrome |
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Abnormality of the dentition, Skin ulcer, Hyperkeratosis |
ORPHA:1806 |
Myopathy And Diabetes Mellitus |
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Progressive cerebellar ataxia, Respiratory distress, Inability to walk, Tip-toe gait |
ORPHA:2596 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
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Redundant skin, Cutis laxa, Increased number of skin folds |
ORPHA:436274 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Erythroderma, Psoriasiform lesion, Failure to thrive, Recurrent lower respiratory tract infection... |
ORPHA:169154 |
Myotubular Myopathy With Abnormal Genital Development |
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High palate, Death in infancy, Neonatal death, Polyhydramnios, Joint hypermobility, Respiratory d... |
OMIM:300219 |
Elastoderma |
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Premature skin wrinkling, Eczema, Cutis laxa, Erysipelas |
ORPHA:228240 |
Chitayat Syndrome |
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Polyhydramnios, Respiratory distress, Abnormal pulmonary interstitial morphology, Thick vermilion... |
OMIM:617180 |
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate |
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Sparse hair |