| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis, Papule, Irregular hyperpigmentation, Multiple cafe-au-lait spots |
ORPHA:1336 |
| Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Hypomelanotic macule, Reticular hyperpigmentation, Follicular hyperkeratosis |
OMIM:615327 |
| Darier Disease |
|
Abnormality of skin pigmentation, Plantar pits, Acrokeratosis, Palmoplantar keratoderma, Subungua... |
ORPHA:218 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Erythema migrans, Hyperpigmentation of the skin, Generalized reticulate brown pigmentation, Parak... |
ORPHA:158681 |
| Acrokeratosis Verruciformis |
|
Hyperkeratosis, Acrokeratosis, Epidermal acanthosis |
OMIM:101900 |
| Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation, Papule, Hyperkeratosis |
ORPHA:315 |
| Acral Peeling Skin Syndrome |
|
Ichthyosis, Skin erosion, Scaling skin, Erythema, Macule, Excessive wrinkling of palmar skin, Hyp... |
ORPHA:263534 |
| Cole Disease |
|
Hyperkeratosis, Hypergranulosis, Epidermal acanthosis, Palmoplantar keratoderma |
OMIM:615522 |
| Insulin-Resistance Syndrome Type A |
|
Generalized hyperpigmentation, Subcutaneous nodule, Hyperkeratosis |
ORPHA:2297 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Erythema |
OMIM:617571 |
| Epidermolysis Bullosa Simplex, Localized |
|
Milia, Hyperkeratosis |
OMIM:131800 |
| Familial Benign Chronic Pemphigus |
|
Acantholysis, Skin erosion, Hyperkeratosis, Erythema, Skin vesicle |
ORPHA:2841 |
| Congenital Panfollicular Nevus |
|
Hyperkeratosis, Verrucous papule, Skin nodule |
ORPHA:139414 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Papule, Palmoplantar keratoderma |
OMIM:244850 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Epidermal acanthosis |
OMIM:617525 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Epidermal acanthosis |
OMIM:615598 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:617115 |
| Epidermolysis Bullosa, Nonspecific, Autosomal Recessive |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:615028 |
| Keratosis, Focal Palmoplantar And Gingival |
|
Subungual hyperkeratosis, Gingival hyperkeratosis, Circumungual hyperkeratosis, Focal friction-re... |
OMIM:148730 |
| Keratosis Palmoplantaris Striata Ii |
|
Epidermal acanthosis, Palmoplantar keratoderma |
OMIM:612908 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Epidermal acanthosis, Palmoplantar keratoderma |
OMIM:615735 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis, Epidermal acanthosis, Erythema |
OMIM:617526 |
| Lichen Planus Pemphigoides |
|
Hyperkeratosis, Skin vesicle, Hypopigmented streaks |
ORPHA:254478 |
| Peeling Skin Syndrome 4 |
|
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Scaling skin, Epidermal acanthosis, Orthoke... |
OMIM:607936 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Spotty hypopigmentation, Hyperkeratosis, Mixed hypo- and hyperpigmentation of the skin, Palmar hy... |
ORPHA:79399 |
| Idiopathic Localized Lipodystrophy |
|
Morphea, Scaling skin, Erythema, Hyperpigmentation of the skin, Scleroderma, Hypopigmentation of ... |
ORPHA:90158 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
| Elastosis Perforans Serpiginosa |
|
Serpiginous cutaneous lesion, Annular cutaneous lesion, Skin-colored papule, Erythematous papule,... |
ORPHA:79148 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Vitiligo, Hyperkeratosis, Cafe-au-lait spot, Hypopigmented skin pa... |
OMIM:145250 |
| Epidermolytic Hyperkeratosis |
|
Congenital bullous ichthyosiform erythroderma, Scaling skin, Epidermal acanthosis, Palmoplantar h... |
OMIM:113800 |
| Porokeratosis Plantaris Palmaris Et Disseminata |
|
Palmoplantar keratoderma, Generalized hyperkeratosis, Aplasia/Hypoplasia of the skin |
ORPHA:737 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Congenital ichthyosiform erythroderma, Epidermal acanthosis |
OMIM:615023 |
| Psoriasis 2 |
|
Hyperkeratosis, Scaling skin, Epidermal acanthosis, Parakeratosis |
OMIM:602723 |
| Pemphigus Foliaceus |
|
Acantholysis, Skin vesicle, Skin erosion, Erythema |
ORPHA:79481 |
| Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis, Epidermal acanthosis, Skin nodule |
ORPHA:199267 |
| Basan Syndrome |
|
Milia, Hyperkeratosis, Epidermal acanthosis |
OMIM:129200 |
| Porokeratosis Of Mibelli |
|
Hyperkeratosis, Porokeratosis, Aplasia/Hypoplasia of the skin |
ORPHA:735 |
| Neurofibromatosis Type 6 |
|
Freckling, Multiple cafe-au-lait spots |
ORPHA:2678 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Skin erosion, Hyperkeratosis, Atrophic scars, Nevus, Hyperpigmentation of the skin, Milia, Aplasi... |
ORPHA:89838 |
| Familial Reactive Perforating Collagenosis |
|
Hyperkeratotic papule, Erythematous papule, Spotty hyperpigmentation, Abnormal epidermal morphology |
ORPHA:79147 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Skin erosion, Atypical scarring of skin, Atrophic scars, Localized skin lesion, Erythematous papu... |
ORPHA:79410 |
| Dowling-Degos Disease 4 |
|
Hypergranulosis, Epidermal acanthosis |
OMIM:615696 |
| Pemphigus Erythematosus |
|
Skin vesicle, Acantholysis |
ORPHA:79480 |
| Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Nonepidermolytic palmoplantar hyperkeratosis, Palmoplantar scaling skin, Scaling skin, Diffuse pa... |
ORPHA:530838 |
| Anonychia With Flexural Pigmentation |
|
Hyperkeratosis, Axillary and groin hyperpigmentation and hypopigmentation, Hypermelanotic macule,... |
ORPHA:69125 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 |
|
Hyperkeratosis, Palmoplantar keratoderma |
OMIM:616400 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
| Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement |
|
Hyperkeratosis, Congenital ichthyosiform erythroderma |
OMIM:270220 |
| Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Urticarial plaque, Facial erythema, Erythematous papule, Palmoplantar erythema, Erythematous plaq... |
ORPHA:64745 |
| Dyschromatosis Universalis Hereditaria |
|
Freckling, Spotty hypopigmentation, Macule, Multiple cafe-au-lait spots, Hypopigmented skin patch... |
ORPHA:241 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Hypergranulosis, Ichthyosis, Hyperkeratosis, Erythema, Congenital ichthyosiform erythroderma, Epi... |
OMIM:613943 |
| Bazex Syndrome |
|
Palmoplantar keratoderma, Acanthosis nigricans, Lip hyperpigmentation, Hyperkeratosis, Scaling sk... |
ORPHA:166113 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Hyperkeratosis, Scaling skin, Epidermal acanthosis, Palmoplantar keratoderma |
OMIM:616295 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Generalized hyperkeratosis, Generalized ichthyosis, Cutis laxa, Scaling skin, Epidermal acanthosi... |
ORPHA:2269 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
| Acral Self-Healing Collodion Baby |
|
Localized epidermolytic hyperkeratosis, Lack of skin elasticity, Palmoplantar scaling skin, Erythema |
ORPHA:281127 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Mottled pigmentation, Spotty hypopigmentation, Hyperkeratotic papule, Mixed hypo- and hyperpigmen... |
ORPHA:79397 |
| Wells Syndrome |
|
Skin vesicle, Edema |
ORPHA:901 |
| Acrokeratoelastoidosis Of Costa |
|
Hyperkeratosis, Subcutaneous nodule, Acrokeratosis, Papule |
ORPHA:38 |
| Peeling Skin Syndrome 2 |
|
Scaling skin, Erythema |
OMIM:609796 |
| Verrucous Hemangioma |
|
Hyperkeratotic papule, Skin plaque, Epidermal acanthosis |
ORPHA:464318 |
| Parana Hard Skin Syndrome |
|
Generalized hyperpigmentation, Thickened skin, Hyperkeratosis |
ORPHA:2812 |
| Mental Retardation, Fra12A Type |
|
Hyperkeratosis |
OMIM:136630 |
| Keratosis Palmoplantaris Striata Iii |
|
Palmoplantar keratoderma |
OMIM:607654 |
| Palmoplantar Keratoderma, Nonepidermolytic |
|
Nonepidermolytic palmoplantar hyperkeratosis |
OMIM:600962 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Aquagenic Palmoplantar Keratoderma |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Skin plaque, Excessive skin wrinkling on... |
ORPHA:498359 |
| Bathing Suit Ichthyosis |
|
Ichthyosis, Scaling skin, Epidermal acanthosis, Parakeratosis, Thickened skin, Congenital nonbull... |
ORPHA:100976 |
| Acrokeratosis Verruciformis Of Hopf |
|
Hypergranulosis, Skin-colored papule, Hyperkeratosis, Skin plaque, Punctate palmoplantar hyperker... |
ORPHA:79151 |
| Ulerythema Ophryogenesis |
|
Follicular hyperkeratosis, Papule, Aplasia/Hypoplasia of the skin, Erythema |
ORPHA:3406 |
| Cutaneous Mastocytoma |
|
Abnormality of skin pigmentation, Subcutaneous nodule, Hypermelanotic macule, Thickened skin |
ORPHA:79455 |
| Peeling Skin Syndrome 3 |
|
White scaling skin |
OMIM:616265 |
| Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Follicular hyperkeratosis, Skin vesicle, Epidermal acanthosis |
OMIM:613102 |
| Ichthyosis Vulgaris |
|
Ichthyosis, Absent keratohyalin granules, Dry skin |
OMIM:146700 |
| Erythema Elevatum Diutinum |
|
Skin vesicle, Skin nodule |
ORPHA:90000 |
| Pemphigoid Gestationis |
|
Skin vesicle |
ORPHA:63275 |
| Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
| Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
| Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
| Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
| Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis |
|
Ichthyosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Erythema |
OMIM:607602 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly, Palmoplantar hyperkeratosis |
OMIM:212360 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Hypergranulosis, Orthokeratosis, Epidermal acanthosis, Punctate palmoplantar hyperkeratosis |
OMIM:148600 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Macule, Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches |
ORPHA:2435 |
| Dermatitis Herpetiformis |
|
Macule, Skin vesicle, Edema, Erythema |
ORPHA:1656 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Hypergranulosis, Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Epidermal acanth... |
OMIM:133200 |
| Superficial Epidermolytic Ichthyosis |
|
Ichthyosis, Acantholysis, Palmoplantar keratoderma, Thin skin, Erythema |
ORPHA:455 |
| Acquired Ichthyosis |
|
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Papule, Dry skin |
ORPHA:454 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Scaling skin, Palmoplantar hyperkeratosis |
OMIM:604536 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans, Papule, Skin ulcer, Aplasia/Hypoplasia of the skin |
ORPHA:409 |
| Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
|
Ichthyosis, Hyperkeratosis, Scaling skin, Erythema, Dry skin |
OMIM:614457 |
| Olmsted Syndrome, X-Linked |
|
Palmoplantar keratoderma, Hyperkeratosis, Subungual hyperkeratosis, Epidermal acanthosis, Paraker... |
OMIM:300918 |
| Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Hypergranulosis, Ichthyosis, Epidermal acanthosis, Palmoplantar keratoderma |
OMIM:615022 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Psoriasiform lesion, Intermittent generalized erythematous papular rash, Annular cutaneous lesion... |
ORPHA:284426 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Iga Pemphigus |
|
Acantholysis, Skin erosion, Annular cutaneous lesion, Skin plaque, Skin vesicle |
ORPHA:555905 |
| Porokeratosis |
|
Abnormality of skin pigmentation, Hyperkeratosis, Dermal atrophy |
ORPHA:79358 |
| Darier-White Disease |
|
Plantar pits, Acrokeratosis, Acantholysis, Palmar pits, Subungual hyperkeratotic fragments, Hyper... |
OMIM:124200 |
| White Sponge Nevus 2 |
|
Epidermal acanthosis, Hyperparakeratosis |
OMIM:615785 |
| Mal De Meleda |
|
Subungual hyperkeratosis, Hyperkeratosis with erythema, Ichthyosis, Diffuse palmoplantar hyperker... |
ORPHA:87503 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Papule, Dehydration, Edema |
OMIM:616069 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Hyperkeratosis, Atrophic scars, Subcutaneous nodule, Skin plaque, Dermal atrophy, Milia, Papule |
ORPHA:89843 |
| Amyloidosis, Primary Localized Cutaneous, 1 |
|
Cutis laxa, Scaling skin, Dry skin |
OMIM:105250 |
| Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Dry skin, Generalized hyperkeratosis, Palmoplantar keratoderma, Erythema |
ORPHA:495 |
| Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
| Gilbert Syndrome |
|
Dehydration |
OMIM:143500 |
| Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis, Dry skin |
ORPHA:461 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Congenital bullous ichthyosiform erythroder... |
ORPHA:312 |
| Ichthyosis Hystrix, Curth-Macklin Type |
|
Ichthyosis |
OMIM:146590 |
| Classic Mycosis Fungoides |
|
Irregular hyperpigmentation, Hyperkeratosis, Skin plaque, Erythema, Hypopigmented skin patches, S... |
ORPHA:2584 |
| Pityriasis Rubra Pilaris |
|
Hypergranulosis, Palmoplantar keratoderma, Subungual hyperkeratosis, Erythematous plaque, Paraker... |
OMIM:173200 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar keratoderma, Epidermal acanthosis, S... |
OMIM:148700 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Hyperkeratosis, Ichthyosis, Diffuse palmoplantar hyperkeratosis |
ORPHA:79503 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Mottled pigmentation of the trunk and proximal extremities, Discrete 2 to 5-mm hyper- and hypopig... |
OMIM:131960 |
| Pachyonychia Congenita 4 |
|
Hyperkeratosis, Palmoplantar keratoderma |
OMIM:615728 |
| Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss |
|
Dermal atrophy, Hypopigmentation of the skin, Diffuse palmoplantar hyperkeratosis |
OMIM:617294 |
| Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratosis, Subcutaneous nodule, Palmoplantar keratoderma |
ORPHA:2698 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Palmoplantar keratoderma, Epidermal hyperkeratosis, Palmoplantar erythema, Hyperpigmentation of t... |
OMIM:104100 |
| Congenital Disorder Of Glycosylation, Type If |
|
Hyperkeratosis, Scaling skin, Dry skin |
OMIM:609180 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Palmoplantar keratoderma, Hyperkeratosis, Epidermal acanthosis, Parakeratosis, Congenital nonbull... |
OMIM:612281 |
| Lichen Planopilaris |
|
Hyperkeratosis, Dermal atrophy, Hypopigmented skin patches, Papule, Skin ulcer |
ORPHA:525 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Dermal atrophy, Papule, Skin vesicle, Aplasia/Hypoplasia of the skin |
ORPHA:257 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Abnormality of skin pigmentation, Aplasia cutis congenita, Palmoplantar keratoderma, Atrophic sca... |
ORPHA:79402 |
| Xeroderma Pigmentosum, Autosomal Dominant, Mild |
|
Freckling, Hyperpigmentation of the skin, Erythema |
OMIM:194400 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... |
ORPHA:42665 |
| Erythrokeratodermia Variabilis |
|
Irregular hyperpigmentation, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Erythema, Macule... |
ORPHA:317 |
| Uv-Sensitive Syndrome 1 |
|
Pigmentation anomalies of sun-exposed skin, Freckling, Dry skin |
OMIM:600630 |
| Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Erythema |
OMIM:606545 |
| Hennekam-Beemer Syndrome |
|
Abnormality of skin pigmentation, Irregular hyperpigmentation, Subcutaneous nodule, Erythema, Mac... |
ORPHA:2135 |
| Pyoderma Gangrenosum |
|
Atrophic scars, Skin vesicle, Papule, Skin ulcer |
ORPHA:48104 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation |
OMIM:300719 |
| Porphyria Variegata |
|
Skin erosion, Localized skin lesion, Thickened skin, Hyperpigmentation of the skin, Milia, Skin v... |
ORPHA:79473 |
| Familial Keratoacanthoma |
|
Hyperkeratosis, Subcutaneous nodule, Papule, Skin ulcer |
ORPHA:493 |
| Vohwinkel Syndrome, Variant Form |
|
Hyperkeratosis, Hypergranulosis, Orthokeratosis, Parakeratosis |
OMIM:604117 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Linear arrays of macular hyperkeratoses in fle... |
OMIM:601952 |
| Striate Palmoplantar Keratoderma |
|
Palmoplantar keratoderma |
ORPHA:50942 |
| Uv-Sensitive Syndrome 3 |
|
Freckling, Dry skin |
OMIM:614640 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis |
OMIM:618339 |
| Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Ichthyosis, Hyperkeratosis, Erythema, Generalized hyperpigme... |
ORPHA:816 |
| Peeling Skin Syndrome 1 |
|
Scaling skin, Erythema |
OMIM:270300 |
| Vulvovaginal Gingival Syndrome |
|
Parakeratosis, Epidermal acanthosis, Skin erosion, Erythema |
ORPHA:83453 |
| Chronic Hiccup |
|
Dehydration |
ORPHA:396 |
| Rare Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion, Intermittent generalized erythematous papular rash, Verrucous papule, Indura... |
ORPHA:535 |
| Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration, Dehydration |
OMIM:143860 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Palmoplantar keratoderma, Epidermal acanthosis, Parakeratosis, Orthokeratosis, Congenital nonbull... |
OMIM:604777 |
| Irida Syndrome |
|
Hyperkeratosis, Ichthyosis, Pallor |
ORPHA:209981 |
| Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
| Drug-Induced Localized Lipodystrophy |
|
Hyperpigmentation of the skin, Hypopigmentation of the skin, Erythema |
ORPHA:90157 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Erythematous plaque, Parakeratosis |
OMIM:618531 |
| Aicardi-Goutieres Syndrome 5 |
|
Scaling skin, Dry skin |
OMIM:612952 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:616029 |
| Focal Palmoplantar And Gingival Keratoderma |
|
Palmoplantar keratoderma, Gingival hyperkeratosis, Focal friction-related palmoplantar hyperkerat... |
ORPHA:2200 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Congenital ichthyosiform ery... |
OMIM:242100 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:618546 |
| Oculotrichodysplasia |
|
Scaling skin, Dry skin |
OMIM:257960 |
| Pityriasis Rubra Pilaris |
|
Ichthyosis, Irregular hyperpigmentation, Palmoplantar keratoderma, Subungual hyperkeratosis, Thic... |
ORPHA:2897 |
| Olmsted Syndrome 2 |
|
Palmoplantar keratoderma, Hyperkeratosis, Epidermal acanthosis, Parakeratosis, Perioral hyperkera... |
OMIM:619208 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Abnormality of skin pigmentation, Aplasia cutis congenita, Skin erosion, Atrophic scars, Milia |
ORPHA:79411 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis |
OMIM:131850 |
| Proteus Syndrome |
|
Epidermal nevus, Hyperkeratosis, Nevus, Epidermal acanthosis, Depigmentation/hyperpigmentation of... |
OMIM:176920 |
| Diarrhea 2, With Microvillus Atrophy |
|
Dehydration |
OMIM:251850 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Melanocytic nevus, Freckling, Hyperkeratosis |
ORPHA:1573 |
| Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:214450 |
| Retinohepatoendocrinologic Syndrome |
|
Abnormality of skin pigmentation, Pallor |
OMIM:268040 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
| Porokeratosis 7, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:614714 |
| Palmoplantar Keratoderma, Epidermolytic |
|
Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm... |
OMIM:144200 |
| Chronic Actinic Dermatitis |
|
Progressive hyperpigmentation, Erythematous papule, Epidermal acanthosis, Hypopigmented skin patches |
ORPHA:330064 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Abnormality of skin pigmentation, Cutis laxa, Hyperkeratosis, Ichthyosis |
OMIM:612379 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Hyperkeratosis, Cafe-au-lait spot |
OMIM:618625 |
| Keratoderma Hereditarium Mutilans |
|
Hyperkeratosis, Papule, Ichthyosis, Honeycomb palmoplantar hyperkeratosis |
ORPHA:494 |
| Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Palmar pits, Epidermal acanthosis |
OMIM:618267 |
| Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
| Chromomycosis |
|
Verrucous papule, Serpiginous cutaneous lesion, Annular cutaneous lesion, Hyperkeratosis, Atypica... |
ORPHA:182 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Perifollicular hyperkeratosis |
ORPHA:505 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormality of skin pigmentation, Purpura, Thin skin, Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:743 |
| Lamellar Ichthyosis |
|
Hyperkeratosis, Lack of skin elasticity, Dehydration, Dry skin |
ORPHA:313 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Abnormality of skin pigmentation, Thin skin, Aplasia/Hypoplasia of the skin, Purpura |
ORPHA:745 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
|
Vitiligo, Nevus |
OMIM:193200 |
| Centrifugal Lipodystrophy |
|
Scaling skin, Erythema |
ORPHA:90156 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Erythema, Parakeratosis |
OMIM:615821 |
| Reticular Dysgenesis |
|
Dehydration, Skin ulcer |
ORPHA:33355 |
| Pemphigus Vulgaris |
|
Atypical scarring of skin, Acantholysis |
ORPHA:704 |
| Leopard Syndrome 3 |
|
Few cafe-au-lait spots, Hyperkeratosis, Epidermal hyperkeratosis, Numerous nevi, Multiple lentigi... |
OMIM:613707 |
| Chilblain Lupus |
|
Hyperkeratosis, Erythematous papule, Skin ulcer |
ORPHA:90280 |
| Singleton-Merten Syndrome 2 |
|
Hyperkeratosis |
OMIM:616298 |
| Oculocutaneous Albinism Type 1A |
|
Iris hypopigmentation, Freckling, Albinism, Hypopigmentation of hair, Hyperkeratosis, Ocular albi... |
ORPHA:79431 |
| Xeroderma Pigmentosum Variant |
|
Freckles in sun-exposed areas, Dermal atrophy, Hyperpigmentation of the skin, Hypopigmentation of... |
ORPHA:90342 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Albinism, Pallor, Hypopigmentation of the skin |
ORPHA:2786 |
| Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
| Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
| Porokeratosis 3, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:175900 |
| Familial Cold Urticaria |
|
Dehydration, Erythema |
ORPHA:47045 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Papule, Skin vesicle, Skin ulcer |
ORPHA:2314 |
| Idiopathic Achalasia |
|
Weight loss, Decreased prealbumin level |
ORPHA:930 |
| Hypotrichosis 6 |
|
Follicular hyperkeratosis, Erythema |
OMIM:607903 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Follicular hyperkeratosis, Dry skin |
OMIM:617066 |
| Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:126070 |
| Porokeratosis 1, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:175800 |
| Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis |
OMIM:148500 |
| Dyskeratosis Congenita |
|
Premature graying of hair, Palmoplantar keratoderma, White hair, Macule, Aplasia/Hypoplasia of th... |
ORPHA:1775 |
| Flynn-Aird Syndrome |
|
Dermal atrophy, Hyperkeratosis |
OMIM:136300 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Hyperkeratosis, Ichthyosis, Scarring alopecia of scalp, Palmoplantar keratoderma |
OMIM:602540 |
| Ichthyosis With Confetti |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:609165 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:28 |
| Mantle Cell Lymphoma |
|
Weight loss, Splenomegaly |
ORPHA:52416 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Ichthyosis, Epidermal acanthosis, Parakeratosis, Orthokeratosis, Dry skin |
OMIM:607626 |
| Sweet Syndrome |
|
Erythematous papule, Pyoderma gangrenosum, Erythematous plaque, Skin vesicle, Skin nodule |
ORPHA:3243 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Congenital ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Epidermal acanthosis, Paraker... |
OMIM:242300 |
| Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Follicular hyperkeratosis, Scaling skin, Dry skin |
OMIM:308205 |
| Transient Neonatal Diabetes Mellitus |
|
Dehydration |
ORPHA:99886 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Weight loss, Dehydration, Edema, Hypoalbuminemia, Abnormal circulating protein conc... |
ORPHA:103910 |
| Moynahan Syndrome |
|
Hyperkeratosis |
ORPHA:2574 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dehydration |
ORPHA:289504 |
| Epidermolytic Palmoplantar Keratoderma |
|
Localized epidermolytic hyperkeratosis, Palmoplantar keratoderma, Erythema |
ORPHA:2199 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma |
OMIM:613576 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Dehydration |
OMIM:618958 |
| Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Hypopigmentation of hair, Albinism, Abnormality of retinal pigmentation, N... |
ORPHA:79435 |
| Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
| Ermine Phenotype |
|
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation |
OMIM:227010 |
| Oculocutaneous Albinism Type 3 |
|
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... |
ORPHA:79433 |
| Pilodental Dysplasia With Refractive Errors |
|
Follicular hyperkeratosis, Reticular hyperpigmentation |
OMIM:262020 |
| Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... |
ORPHA:998 |
| Harlequin Ichthyosis |
|
Hyperkeratosis, Dehydration |
ORPHA:457 |
| Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis |
OMIM:618084 |
| Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Palmoplantar keratoderma, Thin skin, Hyperkeratosis, Erythem... |
ORPHA:742 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Follicular hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Parakeratosis |
OMIM:615225 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypergranulosis, Orthokeratosis, Palmoplantar keratoderma, Acantholysis |
OMIM:615508 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Palmoplantar keratoderma, Weight loss, Ascites, Gastrointestinal hemorrhage |
ORPHA:2198 |
| Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Facial erythema, Palmoplantar keratoderma, Scarring alopecia of scalp, Follicular hyperkeratosis,... |
OMIM:308800 |
| Familial Melanoma |
|
Freckling, Dry skin, Nevus |
ORPHA:618 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Skin rash, Reduced ejection fraction, Arrhythmia, Increased serum interferon-gamma level, Abnorma... |
ORPHA:542323 |
| Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
| Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Weight loss, Abnormal B cell count, Anemia, Splenomegaly |
ORPHA:100024 |
| Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy |
|
Scaling skin, Dry skin |
OMIM:618419 |
| Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Weight loss |
ORPHA:100083 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Skin rash, Pruritus, Palmoplantar pustulosis, Weight loss, Edema, Elevated circulating C-reactive... |
ORPHA:324964 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Acantholysis, Aplasia cutis congenita, Skin erosion |
OMIM:609638 |
| Porphyria Cutanea Tarda |
|
Scaling skin, Hyperpigmentation of the skin, Hypopigmentation of the skin |
ORPHA:101330 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Atrophic scars, Follicular hyperkeratosis |
ORPHA:300179 |
| Immunodeficiency 58 |
|
Psoriasiform lesion, Atrophic scars, Ichthyosis, Scaling skin |
OMIM:618131 |
| Ramon Syndrome |
|
Hyperkeratosis, Abnormality of retinal pigmentation |
ORPHA:3019 |
| Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis |
OMIM:181600 |
| Chikungunya |
|
Skin vesicle, Erythema, Macule, Petechiae, Depigmentation/hyperpigmentation of skin |
ORPHA:324625 |
| Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration |
OMIM:602722 |
| Central Diabetes Insipidus |
|
Dehydration |
ORPHA:178029 |
| Familial Cutaneous Collagenoma |
|
Abnormality of skin pigmentation, Papule, Skin nodule |
ORPHA:53296 |
| Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
| Carcinoma Of Esophagus |
|
Weight loss, Obesity |
ORPHA:70482 |
| Eosinophilic Gastroenteritis |
|
Atopic dermatitis, Hematochezia, Leukocytosis, Weight loss, Edema, Hypoalbuminemia, Anemia, Eleva... |
ORPHA:2070 |
| Skin Fragility-Woolly Hair Syndrome |
|
Palmoplantar keratosis with erythema and scale, Acantholysis |
OMIM:607655 |
| Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Weight loss |
ORPHA:411593 |
| Lymphatic Malformation 4 |
|
Hyperkeratosis |
OMIM:615907 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of skin pigmentation, Hyperkeratosis, Skin ulcer |
ORPHA:1806 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis |
OMIM:610227 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Follicular hyperkeratosis |
OMIM:613736 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Pruritus, Weight loss, Splenomegaly |
ORPHA:86893 |
| Lipoid Proteinosis |
|
Hyperkeratosis, Subcutaneous nodule, Papule, Thickened skin |
ORPHA:530 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormality of skin pigmentation, Palmoplantar keratoderma, Premature graying of hair, Aplasia/Hy... |
ORPHA:1979 |
| Limited Cutaneous Systemic Sclerosis |
|
Abnormality of skin pigmentation, Skin ulcer, Hypopigmented skin patches |
ORPHA:220402 |
| Fixed Drug Eruption |
|
Skin erosion, Erythema, Hyperpigmentation of the skin, Erythematous plaque, Skin detachment |
ORPHA:293812 |
| Retinitis Pigmentosa 35 |
|
Abnormality of skin pigmentation |
OMIM:610282 |
| Graft Versus Host Disease |
|
Lichenoid skin lesion, Scaling skin, Skin erosion, Cutaneous sclerotic plaque |
ORPHA:39812 |
| Hypercalcemia, Infantile, 1 |
|
Dehydration |
OMIM:143880 |
| Immunodeficiency 27A |
|
Increased circulating IgM level, Thrombocytosis, Leukocytosis, Weight loss, Histiocytosis, Increa... |
OMIM:209950 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Follicular hyperkeratosis, Multiple cafe-au-lait spots |
ORPHA:1809 |
| Salt And Pepper Developmental Regression Syndrome |
|
Abnormality of skin pigmentation, Hypermelanotic macule |
OMIM:609056 |
| Hypertrichosis Lanuginosa Congenita |
|
Abnormality of skin pigmentation |
ORPHA:2222 |
| Chronic Graft Versus Host Disease |
|
Abnormality of skin pigmentation, Intermittent generalized erythematous papular rash, Morphea, Er... |
ORPHA:99921 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Eosinophilia |
ORPHA:517 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Pustule, Arrhythmia, Atopic dermatitis, Hyponatremia, Increased circulating renin level, Weight l... |
ORPHA:171876 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dehydration |
ORPHA:79312 |
| Oculocutaneous Albinism Type 1B |
|
Iris hypopigmentation, Freckling, Albinism, Abnormality of retinal pigmentation, Hypopigmentation... |
ORPHA:79434 |
| Pachyonychia Congenita 3 |
|
Palmoplantar keratoderma, Hyperkeratosis, Palmar hyperkeratosis, Plantar hyperkeratosis, Epidermo... |
OMIM:615726 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Nevus, Abnormal epidermal morphology |
ORPHA:398189 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
| Glucose/Galactose Malabsorption |
|
Hypertonic dehydration |
OMIM:606824 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Hyperkeratosis, Dry skin |
ORPHA:1028 |
| Large Congenital Melanocytic Nevus |
|
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Subcutaneous nodule, Nevus,... |
ORPHA:626 |
| Psoriasis 14, Pustular |
|
Parakeratosis, Epidermal acanthosis, Erythema |
OMIM:614204 |
| Noonan Syndrome 8 |
|
Palmoplantar cutis laxa, Hyperkeratosis, Hyperpigmentation of the skin |
OMIM:615355 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Dehydration |
OMIM:610600 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Dehydration, Oligohydramnios |
OMIM:263200 |
| Pachyonychia Congenita |
|
Palmoplantar keratoderma, Eruptive vellus hair cyst, Palmar hyperkeratosis, Follicular hyperkerat... |
ORPHA:2309 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Dehydration |
OMIM:203400 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:27 |
| Primary Intestinal Lymphangiectasia |
|
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hydrops fetalis, Lymphedema, Decreased cir... |
ORPHA:90362 |
| Hodgkin Lymphoma |
|
Pruritus, Weight loss, Splenomegaly |
ORPHA:98293 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Congestive heart failure, Death in infancy, Cachexia, Arrhythmia |
ORPHA:157973 |
| Odontoonychodermal Dysplasia |
|
Hypergranulosis, Erythema, Epidermal acanthosis, Plantar hyperkeratosis, Orthokeratosis, Dry skin |
OMIM:257980 |
| Rhabdoid Tumor |
|
Internal hemorrhage, Hypertension, Weight loss, Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis |
OMIM:614594 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Epidermal acanthosis, Dry skin |
OMIM:617388 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Dehydration |
OMIM:264350 |
| Netherton Syndrome |
|
Dehydration, Dry skin |
ORPHA:634 |
| Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis, Verrucous papule |
ORPHA:2611 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Scaling skin |
OMIM:606367 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Leishmaniasis |
|
Increased circulating antibody level, Abnormal macrophage morphology, Weight loss, Pancytopenia, ... |
ORPHA:507 |
| Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation |
OMIM:300700 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Skin vesicle, Palpebral edema |
ORPHA:99843 |
| Refractory Celiac Disease |
|
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Iron deficiency anemia, Inflammatory abnormality... |
ORPHA:398063 |
| Bacterial Toxic-Shock Syndrome |
|
Localized skin lesion, Scaling skin, Ecchymosis |
ORPHA:36234 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration |
OMIM:177735 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Psoriasiform lesion, Vitiligo |
OMIM:614700 |
| Costello Syndrome |
|
Acanthosis nigricans, Hyperkeratosis, Redundant skin, Generalized hyperpigmentation, Lack of skin... |
ORPHA:3071 |
| Follicular Lymphoma |
|
Lymphedema, Pleural effusion, Weight loss, Splenomegaly |
ORPHA:545 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Hyperkeratosis, Congenital ichthyosiform erythroderma |
OMIM:602400 |
| Hypohidrotic Ectodermal Dysplasia |
|
Irregular hyperpigmentation, Generalized hypopigmentation of hair, Thin skin, Hyperkeratosis, Dry... |
ORPHA:238468 |
| Autosomal Agammaglobulinemia |
|
Dehydration |
ORPHA:33110 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Abnormality of retinal pigmentation, Subcutaneous nodule, Scaling skin, Thickened skin, Skin ulce... |
ORPHA:2526 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Dehydration |
OMIM:560000 |
| Polyarteritis Nodosa |
|
Pericarditis, Raynaud phenomenon, Hypertension, Weight loss, Elevated circulating C-reactive prot... |
ORPHA:767 |
| Juvenile Huntington Disease |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Weight loss |
ORPHA:248111 |
| Focal Myositis |
|
Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
| Takayasu Arteritis |
|
Hypertensive crisis, Hypertension, Weight loss, Myocardial infarction, Cerebral ischemia, Anemia,... |
ORPHA:3287 |
| Meige Disease |
|
Skin erosion, Atypical scarring of skin, Skin dimple, Cobblestone-like hyperkeratosis, Skin ulcer |
ORPHA:90186 |
| Wild Type Attr Amyloidosis |
|
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Pleural effusion, Pedal edema, ... |
ORPHA:330001 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Follicular hyperkeratosis, Dry skin |
ORPHA:486815 |
| Galactose Epimerase Deficiency |
|
Weight loss, Splenomegaly |
ORPHA:79238 |
| Early-Onset Familial Hypoaldosteronism |
|
Dehydration |
ORPHA:556030 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Dehydration |
OMIM:251000 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:281090 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Hyperkeratosis, Orthokeratosis |
OMIM:617337 |
| Aggressive Systemic Mastocytosis |
|
Increased proportion of CD25+ mast cells, Pruritus, Gastrointestinal hemorrhage, Hypotension, Leu... |
ORPHA:98850 |
| Rheumatoid Arthritis |
|
Vasculitis, Joint swelling, Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Follicular hyperkeratosis, Scaling skin, Palmoplantar keratoderma |
ORPHA:158668 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Psoriasiform lesion |
ORPHA:169154 |
| Pleural Mesothelioma |
|
Pleural effusion, Abnormal cardiovascular system physiology, Weight loss |
ORPHA:50251 |
| Beta-Ketothiolase Deficiency |
|
Dehydration, Edema, Pallor |
ORPHA:134 |
| Multicentric Reticulohistiocytosis |
|
Histiocytosis, Cachexia |
ORPHA:139436 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Dehydration |
OMIM:214700 |
| Ménétrier Disease |
|
Hypochromic microcytic anemia, Hypoproteinemia, Gastrointestinal hemorrhage, Peripheral edema, We... |
ORPHA:2494 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Dehydration |
OMIM:208085 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of skin pigmentation, Thin skin |
ORPHA:1810 |
| Propionic Acidemia |
|
Dehydration |
OMIM:606054 |
| X-Linked Agammaglobulinemia |
|
Hypocalcemia, Skin rash, Neutropenia, Weight loss, Thrombocytopenia, Agammaglobulinemia, Recurren... |
ORPHA:47 |
| Xeroderma Pigmentosum |
|
Freckling, Thin skin, Hyperkeratosis, Melanocytic nevus, Erythema, Dermal atrophy, Macule, Hypopi... |
ORPHA:910 |
| Attrv30M Amyloidosis |
|
Atrioventricular block, Arrhythmia, Cardiomyopathy, Weight loss |
ORPHA:85447 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Abnormality of skin pigmentation |
OMIM:616353 |
| Parkes Weber Syndrome |
|
Scaling skin, Erythematous plaque, Skin ulcer, Capillary malformation |
ORPHA:90307 |
| Non-Functioning Paraganglioma |
|
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... |
ORPHA:94080 |
| Microvillus Inclusion Disease |
|
Dehydration |
ORPHA:2290 |
| Donohue Syndrome |
|
Hyperkeratosis, Hypermelanotic macule, Acanthosis nigricans |
OMIM:246200 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Hyperkeratosis, Reticular hyperpigmentation, Generalized reticulate brown pigmentation |
OMIM:301220 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Juvenile Dermatomyositis |
|
Skin rash, Pruritus, Arrhythmia, Bundle branch block, Pericarditis, Gastrointestinal hemorrhage, ... |
ORPHA:93672 |
| Isaac Syndrome |
|
Weight loss |
ORPHA:84142 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Patent ductus arteriosus, Weight loss, Failure to thrive, Anemia, Hypertrophic cardiomyopathy |
ORPHA:1842 |
| Majeed Syndrome |
|
Hypochromic microcytic anemia, Pustule, Leukocytosis, Congenital hypoplastic anemia, Weight loss,... |
ORPHA:77297 |
| Christianson Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Cerebellar atrophy, Cachexia, Death in early adulthood |
ORPHA:85278 |
| Netherton Syndrome |
|
Hypernatremic dehydration, Angioedema, Parakeratosis |
OMIM:256500 |
| Restrictive Dermopathy |
|
Generalized hyperkeratosis, Dermal translucency, Skin erosion, Scaling skin, Epidermal hyperkerat... |
ORPHA:1662 |
| Polymyositis |
|
Arrhythmia, Dilated cardiomyopathy, Pericarditis, Gastrointestinal hemorrhage, Weight loss, Myoca... |
ORPHA:732 |
| Trichothiodystrophy 1, Photosensitive |
|
Hyperkeratosis, Freckling, Congenital nonbullous ichthyosiform erythroderma, Dry skin |
OMIM:601675 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Palpitations, Hypokalemia, Tachycardia, Weight loss |
OMIM:613239 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Palpitations, Hypokalemia, Tachycardia, Weight loss |
OMIM:188580 |
| Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level, Weight loss |
ORPHA:90003 |
| Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Weight loss, Thrombocytopenia, Eczema, Hyperammonemia |
ORPHA:79242 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Systemic Capillary Leak Syndrome |
|
Arrhythmia, Pericarditis, Hypotension, Leukocytosis, Pleural effusion, Pedal edema, Weight loss, ... |
ORPHA:188 |
| Tropical Endomyocardial Fibrosis |
|
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Hypoalbuminemia, Eosinophi... |
ORPHA:75565 |
| Cystinosis |
|
Dehydration |
ORPHA:213 |
| Marburg Hemorrhagic Fever |
|
Skin rash, Gastrointestinal hemorrhage, Subconjunctival hemorrhage, Weight loss, Thrombocytopenia... |
ORPHA:99826 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Scaling skin, Erythema |
ORPHA:294023 |
| Eosinophilic Fasciitis |
|
Muscular edema, Weight loss, Edema, Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
| Hermansky-Pudlak Syndrome |
|
Iris hypopigmentation, Hypopigmentation of hair, Hyperkeratosis, Melanocytic nevus, Ocular albini... |
ORPHA:79430 |
| Glucose-Galactose Malabsorption |
|
Dehydration |
ORPHA:35710 |
| Chronic Mucocutaneous Candidiasis |
|
Hyperkeratosis, Papule, Skin ulcer, Erythema |
ORPHA:1334 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis |
ORPHA:79279 |
| Al Amyloidosis |
|
Arrhythmia, Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Incr... |
ORPHA:85443 |
| Riddle Syndrome |
|
Scaling skin, Erythema |
ORPHA:420741 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Leukocytosis, Lymphedema, Weight loss, Thrombocytopenia, Abnormal neutro... |
ORPHA:3226 |
| Adrenal Hypoplasia, Congenital |
|
Dehydration |
OMIM:300200 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Hyperkeratosis |
ORPHA:1883 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Secondary Short Bowel Syndrome |
|
Dehydration |
ORPHA:95427 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Dehydration, Edema, Pallor |
ORPHA:20 |
| Polycythemia Vera |
|
Pruritus, Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Budd-Chiari sy... |
ORPHA:729 |
| Monilethrix |
|
Perifollicular hyperkeratosis |
OMIM:158000 |
| Classic Hodgkin Lymphoma |
|
Skin rash, Pruritus, Weight loss, Splenomegaly |
ORPHA:391 |
| Wilson Disease |
|
Pruritus, Joint swelling, Weight loss, Thrombocytopenia, Splenomegaly, Increased body weight, Fai... |
ORPHA:905 |
| Pten Hamartoma Tumor Syndrome |
|
Hyperkeratotic papule, Papule, Freckling, Plantar pits |
ORPHA:306498 |
| Neonatal Lupus Erythematosus |
|
Hyperkeratosis, Erythematous plaque, Parakeratosis |
ORPHA:398124 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormality of skin pigmentation, Thin skin, Atrophic scars, Cutis laxa, Atypical scarring of skin |
ORPHA:75496 |
| Spinocerebellar Ataxia 34 |
|
Hyperkeratosis |
OMIM:133190 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Cachexia |
OMIM:618093 |
| Monilethrix |
|
Follicular hyperkeratosis |
ORPHA:573 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Arrhythmia, Abnormality of iron homeostasis, Joint ... |
ORPHA:465508 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Constrictive pericarditis, Leukocytosis, Pleural effusion, Weight loss, Pleural empyema, Congesti... |
ORPHA:67 |
| Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Methylmalonic Aciduria, Cblb Type |
|
Dehydration |
OMIM:251110 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis |
OMIM:615279 |
| Cardiofaciocutaneous Syndrome |
|
Ichthyosis, Palmoplantar keratoderma, Hyperkeratosis, Redundant skin, Multiple cafe-au-lait spots... |
ORPHA:1340 |
| Mast Cell Sarcoma |
|
Mastocytosis, Weight loss, Splenomegaly |
ORPHA:66661 |
| Yao Syndrome |
|
Skin rash, Pericarditis, Weight loss, Xerostomia, Inflammatory abnormality of the skin |
OMIM:617321 |
| Wolcott-Rallison Syndrome |
|
Dehydration, Ascites |
ORPHA:1667 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Popov-Chang syndrome |
|
Hyperkeratosis, Dry skin |
OMIM:618428 |
| Igg4-Related Aortitis |
|
Increased circulating IgE level, Increased circulating antibody level, Weight loss, Increased cir... |
ORPHA:449400 |
| Oculocutaneous Albinism Type 2 |
|
Iris hypopigmentation, Abnormality of retinal pigmentation, Freckling, Hypopigmentation of hair, ... |
ORPHA:79432 |
| Methylmalonic Aciduria, Cbla Type |
|
Dehydration |
OMIM:251100 |
| Diffuse Cutaneous Mastocytosis |
|
Abnormality of skin pigmentation, Thickened skin |
ORPHA:79456 |
| Xfe Progeroid Syndrome |
|
Ascites, Cachexia, Hypertension |
OMIM:610965 |
| Kaposi Sarcoma |
|
Lymphedema, Skin rash, Abnormality of the spleen, Weight loss |
ORPHA:33276 |
| Bullous Pemphigoid |
|
Eczema, Psoriasiform dermatitis, Weight loss |
ORPHA:703 |
| Pseudomyxoma Peritonei |
|
Ascites, Weight loss |
ORPHA:26790 |
| Rat-Bite Fever |
|
Scaling skin |
ORPHA:31205 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Pruritus, Elevated alpha-fetoprotein, Weight loss, Ascites, Anemia, Abnormal superior cerebellar ... |
ORPHA:370348 |
| Hereditary Mucoepithelial Dysplasia |
|
Hyperkeratosis |
ORPHA:1839 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hyperkeratosis, Dry skin |
OMIM:614576 |
| Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
| Yellow Fever |
|
Dehydration |
ORPHA:99829 |
| Cryptosporidiosis |
|
Dehydration |
ORPHA:1549 |
| Werner Syndrome |
|
Abnormality of retinal pigmentation, Premature graying of hair, Hyperkeratosis, White forelock, A... |
ORPHA:902 |
| Thymic Carcinoma |
|
Edema, Weight loss, Palpebral edema |
ORPHA:99868 |
| Kindler Epidermolysis Bullosa |
|
Abnormality of skin pigmentation, Palmoplantar keratoderma, Hyperkeratosis, Atypical scarring of ... |
ORPHA:2908 |
| Renal Hypoplasia |
|
Dehydration |
ORPHA:93101 |
| Poems Syndrome |
|
Thrombocytosis, Increased circulating antibody level, Polycythemia, Pericardial effusion, Pleural... |
ORPHA:2905 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Myeloid leukemia, Pruritus, Hypotension, Leukocytosis, Chronic lymphatic leukemia, Weight loss, N... |
ORPHA:98849 |
| Noonan Syndrome 2 |
|
Palmoplantar cutis laxa, Hyperkeratosis, Nevus, Hyperpigmentation of the skin, Cafe-au-lait spot |
OMIM:605275 |
| Malignant Peritoneal Mesothelioma |
|
Pedal edema, Ascites, Weight loss |
ORPHA:168811 |
| Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
| Cholera |
|
Palmoplantar cutis laxa, Dehydration |
ORPHA:173 |
| Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure, Weight loss |
OMIM:275000 |
| Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
| Familial Thrombocytosis |
|
Pruritus, Thrombocytosis, Chronic myelogenous leukemia, Weight loss, Acute myeloid leukemia, Cere... |
ORPHA:71493 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hyperalaninemia, Anemia, Cachexia, Weight loss |
ORPHA:298 |
| Naxos Disease |
|
Palmoplantar keratoderma, Epidermal acanthosis, Acantholysis |
OMIM:601214 |
| Desmoplastic Small Round Cell Tumor |
|
Ascites, Anemia, Cachexia, Weight loss |
ORPHA:83469 |
| Pneumocystosis |
|
Chronic oral candidiasis, Increased circulating antibody level, Pleural effusion, Weight loss, Ab... |
ORPHA:723 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Hyperkeratosis, Atypical scarring of skin, Dry skin |
OMIM:601701 |
| Noonan Syndrome 10 |
|
Palmoplantar cutis laxa, Hyperkeratosis, Hyperpigmentation of the skin, Cafe-au-lait spot |
OMIM:616564 |
| Premature Aging Syndrome, Penttinen Type |
|
Hyperkeratosis |
OMIM:601812 |
| Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:28378 |
| Mycetoma |
|
Subcutaneous nodule, Cobblestone-like hyperkeratosis, Cutaneous cyst |
ORPHA:2583 |
| Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Abnormality of skin pigmentation |
OMIM:613988 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Anemia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:54251 |
| Gaucher Disease, Perinatal Lethal |
|
Ichthyosis, Purpura, Hyperkeratosis, Petechiae, Congenital nonbullous ichthyosiform erythroderma |
OMIM:608013 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:612852 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypertonic dehydration |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, X-Linked |
|
Hypertonic dehydration |
OMIM:304800 |
| Drug Rash With Eosinophilia And Systemic Symptoms |
|
Lymphocytosis, Skin rash, Pustule, Erythroderma, Weight loss, Cardiac arrest, Myocarditis, Angioe... |
ORPHA:139402 |
| Dend Syndrome |
|
Dehydration |
ORPHA:79134 |
| Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Weight loss, Anemia, P... |
ORPHA:514 |
| Incontinentia Pigmenti |
|
Abnormality of skin pigmentation, Hyperkeratosis, Pallor, Erythema |
OMIM:308300 |
| Shigellosis |
|
Dehydration, Purpura |
ORPHA:810 |
| Aregenerative Anemia |
|
Erythroid hypoplasia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive ... |
ORPHA:101096 |
| Huntington Disease |
|
Decreased body mass index, Abnormal circulating cholesterol concentration, Weight loss |
ORPHA:399 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Increased blood urea nitrogen, Large vessel vasculitis, Renovascular hypertension, Elevated circu... |
ORPHA:49041 |
| Free Sialic Acid Storage Disease |
|
Abnormality of skin pigmentation, Iris hypopigmentation, Skin ulcer |
ORPHA:834 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Arrhythmia, Decreased plasma total carnitine, Cachexia, Elevated circulating creatine kinase conc... |
ORPHA:42 |
| Huntington Disease-Like 1 |
|
Cerebellar atrophy, Weight loss |
ORPHA:157941 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
| Alternating Hemiplegia Of Childhood |
|
Dehydration, Pallor |
ORPHA:2131 |
| Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Thrombocytopenia, Pulmo... |
ORPHA:90060 |
| Inflammatory Bowel Disease 11 |
|
Weight loss, Hematochezia |
OMIM:191390 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Polyhydramnios, Cerebellar atrophy, Cachexia |
OMIM:618186 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Skin rash, Recurrent intrapulmonary hemorrhage, Hypertension, Weight loss, Myocardial infarction,... |
ORPHA:183 |
| Osteosarcoma |
|
Joint swelling, Weight loss |
ORPHA:668 |
| Castleman Disease |
|
Anasarca, Restrictive cardiomyopathy, Weight loss, Increased circulating interleukin 6, Thrombocy... |
ORPHA:160 |
| Wolman Disease |
|
Bone-marrow foam cells, Splenomegaly, Ascites, Cachexia, Anemia |
ORPHA:75233 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Dehydration |
ORPHA:230 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Pruritus, Weight loss |
ORPHA:65682 |
| Pfapa Syndrome |
|
Weight loss, Splenomegaly |
ORPHA:42642 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hyperkeratosis, Subcutaneous nodule, Papule |
ORPHA:79280 |
| Incontinentia Pigmenti |
|
Abnormality of skin pigmentation, Irregular hyperpigmentation, Hyperkeratosis, Erythema, Hypopigm... |
ORPHA:464 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Hyperkeratosis, Parakeratosis, Congenital ichthyosiform erythroderma, Erythema |
OMIM:308050 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Abnormal left ventricular function, Weight loss, Abnormal atriovent... |
ORPHA:3208 |
| Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Bone-marrow foam cells, Pruritus, Vacuolated lymphocytes, Hypovolemia, Hypo... |
ORPHA:275761 |
| Sialidosis Type 1 |
|
Hyperkeratosis |
ORPHA:812 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypocalcemia, Hematochezia, Xerostomia, Hypokalemia, Cachexia, Anemia, Hypomagnesemia |
OMIM:175500 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:90791 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypocalcemia, Decreased prealbumin level, Eczematoid dermatitis, Neutropenia, Abnormal blood ion ... |
ORPHA:37042 |
| Vipoma |
|
Dehydration, Ascites, Erythema |
ORPHA:97282 |
| Bartter Syndrome, Type 3 |
|
Dehydration |
OMIM:607364 |
| Primary Myelofibrosis |
|
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Cache... |
ORPHA:824 |
| Q Fever |
|
Pericarditis, Increased circulating antibody level, Pericardial effusion, Pleural effusion, Abnor... |
ORPHA:781 |
| Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss, Leukocytosis |
ORPHA:1302 |
| Multiple Myeloma |
|
Decreased circulating antibody level, Elevated circulating creatinine concentration, Pleural effu... |
ORPHA:29073 |
| Riboflavin Transporter Deficiency |
|
Cachexia, Hypertension |
ORPHA:97229 |
| Whipple Disease |
|
Pericarditis, Gastrointestinal hemorrhage, Hypotension, Pedal edema, Hyponatremia, Myocardial inf... |
ORPHA:3452 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... |
ORPHA:276621 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis |
ORPHA:163966 |
| Congenital Tufting Enteropathy |
|
Dehydration |
ORPHA:92050 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Elevated circulating creatine kinase concentration, Cachexia |
ORPHA:1933 |
