Retinitis Pigmentosa, Late-Adult Onset |
|
Rod-cone dystrophy |
OMIM:268025 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Retinitis Pigmentosa 24 |
|
Cone dystrophy, Rod-cone dystrophy |
OMIM:300155 |
Retinitis Pigmentosa, Y-Linked |
|
Rod-cone dystrophy |
OMIM:400004 |
Retinitis Pigmentosa 55 |
|
Rod-cone dystrophy |
OMIM:613575 |
Cone-Rod Dystrophy, X-Linked, 2 |
|
Cone/cone-rod dystrophy, Cone dystrophy |
OMIM:300085 |
Retinitis Pigmentosa 67 |
|
Rod-cone dystrophy |
OMIM:615565 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Choroidal Dystrophy, Central Areolar, 3 |
|
Drusen, Chorioretinal atrophy |
OMIM:613144 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Porokeratosis Plantaris Palmaris Et Disseminata |
|
Porokeratosis, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratotic papule, Generalized abnormal... |
ORPHA:737 |
Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Cutaneous photosensitivity, Porokeratosis |
ORPHA:735 |
Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Perifollicular hyperkeratosis, Spars... |
ORPHA:505 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Aquagenic Palmoplantar Keratoderma |
|
Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic... |
ORPHA:498359 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Ridged nail, Acrokeratosis |
OMIM:101900 |
Ulerythema Ophryogenesis |
|
Acne, Miscarriage, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, C... |
ORPHA:3406 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Anonychia With Flexural Pigmentation |
|
Macular telangiectasia, Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular h... |
ORPHA:69125 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis, Fragile skin |
OMIM:615028 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... |
OMIM:617571 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythrode... |
ORPHA:312 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N... |
OMIM:212360 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy |
OMIM:136550 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I... |
ORPHA:79503 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sp... |
OMIM:607903 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis, Cutaneous photosensitivity |
ORPHA:1336 |
Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis |
ORPHA:139414 |
Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosi... |
ORPHA:89838 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Chronic Hiccup |
|
Dehydration, Weight loss |
ORPHA:396 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Generalized hirsutism |
ORPHA:2297 |
Lamellar Ichthyosis |
|
Pruritus, Erythroderma, Dehydration, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Sparse ... |
ORPHA:313 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Absent facial hair, Abnormality of... |
ORPHA:90368 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Dermatoleukodystrophy |
|
Thickened skin, Premature skin wrinkling, Progeroid facial appearance |
OMIM:221790 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... |
OMIM:617526 |
Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia, Cachexia |
ORPHA:2574 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Elastoderma |
|
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa |
ORPHA:228240 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Alopecia, Scaling skin on fingertip, Hypergranulosis, Honeycomb palmoplantar hyper... |
ORPHA:79395 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Lymphatic Malformation 4 |
|
Prominent superficial veins, Lymphedema, Pedal edema, Hyperkeratosis, Toenail dysplasia |
OMIM:615907 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Dehydration |
OMIM:601410 |
Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Dehydration |
OMIM:610370 |
Erythrokeratodermia Variabilis |
|
Alopecia, Skin rash, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis, Weig... |
ORPHA:317 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Skin fragility with non-scarring blistering, Na... |
ORPHA:79399 |
Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Ectodermal dysplasia, Palmoplantar k... |
OMIM:224750 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... |
OMIM:618546 |
Netherton Syndrome |
|
Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology,... |
ORPHA:634 |
Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... |
ORPHA:454 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
Classic Mycosis Fungoides |
|
Alopecia, Skin rash, Eczema, Edema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin, Abn... |
ORPHA:2584 |
Bazex Syndrome |
|
Parakeratosis, Edema, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dyst... |
ORPHA:166113 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin, Generalized hirsutism |
ORPHA:2812 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Combined Malonic And Methylmalonic Aciduria |
|
Failure to thrive, Dehydration |
OMIM:614265 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern... |
ORPHA:79147 |
Olmsted Syndrome 2 |
|
Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa... |
OMIM:619208 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery... |
ORPHA:64745 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, ... |
OMIM:607602 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... |
OMIM:601952 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Reticular Dysgenesis |
|
Skin rash, Skin ulcer, Dehydration, Weight loss, Failure to thrive |
ORPHA:33355 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Death in infancy, Dehydration |
OMIM:251850 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy... |
OMIM:615821 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Pustule, Dehydration, Long eyelashes, Failure to thrive |
OMIM:616069 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
Netherton Syndrome |
|
Hypernatremic dehydration, Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infecti... |
OMIM:256500 |
Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Ichthyosis, Orthokeratosis |
OMIM:607936 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Scaling skin, Palmoplantar keratoderma, Fragile skin |
OMIM:146590 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy |
OMIM:616487 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp... |
ORPHA:2200 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
OMIM:158000 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule |
ORPHA:464318 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
Ichthyosis Prematurity Syndrome |
|
Polyhydramnios, Pruritus, Dermatographic urticaria, Generalized ichthyosis, Follicular hyperkerat... |
OMIM:608649 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hyperkerat... |
OMIM:602400 |
Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Ectodermal dysplasia, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ich... |
OMIM:613576 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Transaldolase Deficiency |
|
Premature skin wrinkling, Hydrops fetalis, Edema, Telangiectasia |
ORPHA:101028 |
Bathing Suit Ichthyosis |
|
Parakeratosis, Alopecia, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Palmoplantar ... |
ORPHA:100976 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... |
OMIM:300918 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Alopecia, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform eryt... |
OMIM:242300 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... |
OMIM:612281 |
Epidermolytic Palmoplantar Keratoderma |
|
Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar h... |
ORPHA:2199 |
Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Cutis laxa |
OMIM:614434 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Skin ulcer,... |
ORPHA:90280 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:613943 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Plantar hyperkeratosis, Cutaneous photosensitivity, Skin fragility with non-scarring bl... |
ORPHA:79397 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Harlequin Ichthyosis |
|
Erythroderma, Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis |
ORPHA:457 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Skin vesi... |
OMIM:613102 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
Darier Disease |
|
Acrokeratosis, Pruritus, Thickened skin, Abnormal hair morphology, Palmoplantar keratoderma, Skin... |
ORPHA:218 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop... |
OMIM:148700 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... |
OMIM:620148 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Scaling skin |
OMIM:617115 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper... |
OMIM:620014 |
Central Diabetes Insipidus |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:178029 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin |
OMIM:602723 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Onycho... |
OMIM:616295 |
Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair |
OMIM:618625 |
Alg8-Cdg |
|
Small for gestational age, Abnormality of subcutaneous fat tissue, Edema, Hydrops fetalis, Cutis ... |
ORPHA:79325 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Dehydration |
ORPHA:28 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Atrophoderma Vermiculata |
|
Pruritus, Erythema, Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:79100 |
Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Pruritus, Skin ulcer, Hyperkeratosis, Onycholysis |
ORPHA:525 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss, Edema, Dehydration |
ORPHA:103910 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
White Sponge Nevus 2 |
|
Hyperparakeratosis, Edema |
OMIM:615785 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Familial Cold Urticaria |
|
Pruritus, Urticaria, Erythema, Dehydration |
ORPHA:47045 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin, Patchy alopecia |
OMIM:247100 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma |
OMIM:133200 |
Lichen Planus Pemphigoides |
|
Pruritus, Hyperkeratosis, Abnormality of the nail, Skin vesicle |
ORPHA:254478 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Small for gestational age, Dehydration |
ORPHA:99886 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker... |
ORPHA:2897 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering... |
ORPHA:158681 |
Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Premature skin wrinkling, Failure to thrive |
OMIM:617950 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Alopecia, Sparse eyelashes, Edema, Acantholysis, Sparse eyebrow, Palmop... |
OMIM:605676 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor... |
ORPHA:494 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Dehydration, Weight loss |
OMIM:143880 |
Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Dry skin, Ichthyosis |
ORPHA:461 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Generalized... |
ORPHA:2269 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Folliculitis, Palm... |
OMIM:308800 |
Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Thick hair, Polyhydramnios, Edema, Pericardial effusion, Large for g... |
ORPHA:363705 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss, Ascites, Palmoplantar keratoderma |
ORPHA:2198 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Thin nail, Hypergranulosis, Abnormal hair morphology, Erythema, Hyperkeratosis, Congeni... |
OMIM:242100 |
Pemphigus Vulgaris |
|
Urticaria, Recurrent cutaneous abscess formation, Weight loss, Acantholysis |
ORPHA:704 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Thickened skin, Weight loss, Fine hair, Ic... |
ORPHA:2221 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis, Nail dystrophy |
OMIM:175900 |
Acrogeria |
|
Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Fine hair, Excessive wrinkle... |
ORPHA:2500 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... |
OMIM:604777 |
Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebro... |
OMIM:610768 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Hyperkeratosis, Coarse hair, Sparse hair, Hidrotic ectodermal dysplasia |
ORPHA:1883 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti |
ORPHA:1573 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy |
ORPHA:89843 |
Combined Malonic And Methylmalonic Acidemia |
|
Failure to thrive, Dehydration |
ORPHA:289504 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ... |
ORPHA:79151 |
Ramon Syndrome |
|
Hyperkeratosis, Failure to thrive, Telangiectasia of the skin, Generalized hirsutism |
ORPHA:3019 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Brittle hair, Prematurely aged appearance, Redundant skin, A... |
ORPHA:2963 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Dry skin, Cutis laxa, Hyperkeratosis, Ichthyosis, Failure to thrive, Hypertrichosis |
OMIM:612379 |
Flynn-Aird Syndrome |
|
Hyperkeratosis, Alopecia, Alopecia of scalp |
OMIM:136300 |
Noonan Syndrome 8 |
|
Curly hair, Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis, Palmoplantar cutis... |
OMIM:615355 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Failure to thrive, Dehydration |
OMIM:618958 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Meige Disease |
|
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... |
ORPHA:90186 |
Vulvovaginal Gingival Syndrome |
|
Pruritus, Ridged nail, Parakeratosis, Erythema |
ORPHA:83453 |
Ichthyosis With Confetti |
|
Pruritus, Erythroderma, Palmoplantar hyperkeratosis, Hypoplastic nipples, Congenital nonbullous i... |
OMIM:609165 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Brittle hair, Small for gestational age, Trichoschisis, Fine hair, Telangiectas... |
OMIM:601675 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Progeroid facial appearance, Failure to thrive, Small for gestational age, Slender build |
ORPHA:50811 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Dehydration, Death in childhood, Failure to thrive, Hirsutism |
OMIM:214150 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Aged leonine appearance, Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis |
OMIM:227260 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Palmoplantar keratoderm... |
OMIM:618535 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Thin nail, Hypergranulosis, Sho... |
OMIM:257980 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Failure to thrive, Dehydration |
OMIM:251120 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Polyhydramnios, Weight loss |
OMIM:620045 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration, Failure to thrive |
OMIM:143860 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa |
ORPHA:79148 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis |
ORPHA:2841 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Excessive wrinkl... |
ORPHA:3051 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Dehydration |
OMIM:602722 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Small for gestational age, Jaundice, Dehydration, Ichthyosis, Failure to thrive... |
OMIM:208085 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Hyperkeratosis, Ichthyosis, Scaling skin, Congenital nonbullous ichthyosiform erythrode... |
OMIM:614457 |
Cog7-Cdg |
|
Excessive wrinkled skin, Jaundice, Failure to thrive, Small for gestational age |
ORPHA:79333 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s... |
OMIM:617337 |
Sjögren-Larsson Syndrome |
|
Erythema, Urticaria, Hyperkeratosis, Ichthyosis, Dry skin |
ORPHA:816 |
Microphthalmia, Syndromic 8 |
|
Premature skin wrinkling |
OMIM:601349 |
Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop... |
ORPHA:79153 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Death in adolescence, Dehydration, Death in childhood |
OMIM:560000 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... |
OMIM:615023 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Cachexia, Abnormal hair morphology, Thickened skin, Lack of ... |
ORPHA:1979 |
Cole Disease |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:615522 |
Irida Syndrome |
|
Hyperkeratosis, Pallor, Ichthyosis |
ORPHA:209981 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... |
OMIM:606545 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Pustule, Atopic dermatitis, Dehydration, Weight loss |
ORPHA:171876 |
Glucose/Galactose Malabsorption |
|
Failure to thrive, Hypertonic dehydration |
OMIM:606824 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Eczema, Xerostomia, Dry skin, Hyperkeratosis, Aplasia/... |
ORPHA:238468 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Prolidase Deficiency |
|
Abnormal fingernail morphology, Pruritus, Crusting erythematous dermatitis, Low anterior hairline... |
ORPHA:742 |
Pachyonychia Congenita |
|
Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex... |
ORPHA:2309 |
Superficial Epidermolytic Ichthyosis |
|
Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Ichthyosis |
ORPHA:455 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Pachyonychia Congenita 1 |
|
Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis |
OMIM:167200 |
Dowling-Degos Disease |
|
Abnormal fingernail morphology, Pruritus, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Ge... |
ORPHA:79145 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Toenail dysplasia, Pedal edema, Hyperkeratosis, ... |
ORPHA:79452 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Erythema, Weight loss, Urticaria |
ORPHA:703 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry... |
ORPHA:1028 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Dehydration |
OMIM:610600 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Dehydration |
OMIM:203400 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Palpebral edema... |
OMIM:137940 |
Congenital Disorder Of Glycosylation, Type If |
|
Death in infancy, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive |
OMIM:609180 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Dehydration |
ORPHA:79312 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Parakeratosis, Alopecia, Sparse eyelashes, Thick hair, Pruritus, Sparse eyebrow, Jaundice, Sparse... |
OMIM:607626 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Erythroderma, ... |
OMIM:615508 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Failure to thrive, Dehydration |
OMIM:264350 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Redundant skin, Abnormal hair pattern, Highly arched eyebrow, Prematurely... |
ORPHA:1807 |
Congenital Short Bowel Syndrome |
|
Failure to thrive, Dehydration |
OMIM:615237 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:35710 |
Acral Peeling Skin Syndrome |
|
Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin |
ORPHA:263534 |
Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Eczema, Sparse medial eyebrow, Low anterior hairline... |
OMIM:601358 |
Myoclonic-Astatic Epilepsy |
|
Premature skin wrinkling, Frontal balding |
ORPHA:1942 |
Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
Costello Syndrome |
|
Deep-set nails, Failure to thrive in infancy, Abnormal fingernail morphology, Polyhydramnios, Con... |
ORPHA:3071 |
Autosomal Agammaglobulinemia |
|
Recurrent skin infections, Failure to thrive, Skin rash, Dehydration |
ORPHA:33110 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Prematurely aged appearance, Dry skin, Low posterior hairline, Premature ... |
ORPHA:2617 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Small for gestational age, Sparse facial hair, Sparse axillary hair, Progeroid facial appearance,... |
OMIM:608154 |
Cardiofaciocutaneous Syndrome |
|
Brittle hair, Failure to thrive in infancy, Slow-growing hair, Redundant skin, Lymphedema, Abnorm... |
ORPHA:1340 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis, Telangiectasia, Telangiectasia of the skin, Lymphedema |
ORPHA:79279 |
Insulin Autoimmune Syndrome |
|
Acanthosis nigricans, Weight loss |
ORPHA:411593 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Failure to thrive, Dehydration |
OMIM:177735 |
Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion, Discoid lupus rash, Hyperkeratosis, Cutaneous photosensitivity, Vasculitis i... |
ORPHA:163525 |
Chromomycosis |
|
Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparakeratosis, Hyperkerato... |
ORPHA:182 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Xerostomia,... |
OMIM:614941 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker... |
OMIM:601214 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Dehydration |
OMIM:212140 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Prematurely aged appearance, Telangiectasia of the skin, Premature gray... |
ORPHA:100 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Scleroderma, Premature ... |
ORPHA:363618 |
Lipoid Proteinosis |
|
Acne, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp |
ORPHA:530 |
Leopard Syndrome 3 |
|
Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Dry skin |
OMIM:613707 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Neonatal death, Death in infancy, Congenital ichthyosiform erythroderma, Failure to thrive |
OMIM:242500 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Hyperkeratosis, Alopecia, Fine hair |
ORPHA:1839 |
Cog5-Cdg |
|
Abnormality of the frontal hairline, Premature skin wrinkling, Oligohydramnios |
ORPHA:263487 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin |
OMIM:618527 |
Follicular Lymphoma |
|
Pleural effusion, Weight loss, Lymphedema |
ORPHA:545 |
Propionic Acidemia |
|
Failure to thrive, Eczema, Dehydration |
OMIM:606054 |
Acrokeratoelastoidosis Of Costa |
|
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis |
ORPHA:38 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Follicular hyperkeratosis |
OMIM:615147 |
Fontaine Progeroid Syndrome |
|
Redundant skin, Synophrys, Low anterior hairline, Coarse hair, Neonatal death, Death in infancy, ... |
OMIM:612289 |
Acute Myelomonocytic Leukemia |
|
Pallor, Weight loss |
ORPHA:517 |
Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Failure to thrive, Curly hair |
OMIM:615279 |
Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Dehydration |
ORPHA:556030 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Erythema, Skin ulcer, We... |
ORPHA:37 |
Galactose Epimerase Deficiency |
|
Jaundice, Weight loss |
ORPHA:79238 |
Osteootohepatoenteric Syndrome |
|
Pruritus, Dehydration, Weight loss, Prolonged neonatal jaundice, Failure to thrive |
OMIM:619377 |
Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Cachexia, Lymphedema, Hypoplastic toenails, Dystrophic ... |
ORPHA:2930 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
Chronic Mucocutaneous Candidiasis |
|
Skin rash, Abnormal fingernail morphology, Pruritus, Erythema, Broad nail, Skin ulcer, Hyperkerat... |
ORPHA:1334 |
Eosinophilic Fasciitis |
|
Muscular edema, Acrocyanosis, Edema, Weight loss |
ORPHA:3165 |
Geroderma Osteodysplasticum |
|
Premature skin wrinkling, Neonatal wrinkled skin of hands and feet, Progeroid facial appearance, ... |
OMIM:231070 |
Short Syndrome |
|
Premature skin wrinkling, Small for gestational age, Prominent superficial veins |
OMIM:269880 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Pruritus, Weight loss |
ORPHA:86893 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Bruising susceptibility, Follicular hyperkeratosis |
ORPHA:300179 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Premature graying of hair, Excessive wrinkled skin, Nail dystrophy, Generalize... |
ORPHA:3322 |
Werner Syndrome |
|
Sparse scalp hair, Miscarriage, Prematurely aged appearance, Telangiectasia of the skin, Abnormal... |
ORPHA:902 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:95427 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Brittle hair, Redundant skin, Abnormality of hair texture, Cutis laxa, Excessive wrinkled skin, C... |
OMIM:219200 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:92050 |
Cutis Laxa, Autosomal Dominant 3 |
|
Premature skin wrinkling, Cutis laxa, Dermal translucency |
OMIM:616603 |
Beta-Ketothiolase Deficiency |
|
Weight loss, Pallor, Edema, Dehydration |
ORPHA:134 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Edema, Sparse eyebrow, Low posterior hairline, Telangiectasia,... |
OMIM:604173 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Cutis marmorata, Progeroid facial appearance, Sparse eyebrow, Re... |
OMIM:300953 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... |
OMIM:616468 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Ectodermal dysplasia, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperke... |
OMIM:615225 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:27 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Anonychia, Palmoplantar keratoderma, Nail dystrophy |
OMIM:616029 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Maculopapular exanthema, Supernumerary nipple, Erythema, Nail pits, Fine h... |
OMIM:308300 |
Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Pustule, Erythema, Nail dystrophy |
OMIM:614204 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Dehydration |
OMIM:251000 |
Adrenal Hypoplasia, Congenital |
|
Failure to thrive, Dehydration |
OMIM:300200 |
Cystinosis |
|
Failure to thrive, Dehydration |
ORPHA:213 |
Barber-Say Syndrome |
|
Dermal translucency, Absent nipple, Sparse eyelashes, Redundant skin, Sparse eyebrow, Low anterio... |
OMIM:209885 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Decreased adipose tissue around neck, Sma... |
OMIM:606721 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Failure to thrive, Dehydration |
OMIM:615453 |
Gaucher Disease, Perinatal Lethal |
|
Decreased body weight, Nonimmune hydrops fetalis, Polyhydramnios, Hyperkeratosis, Congenital nonb... |
OMIM:608013 |
Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Wolcott-Rallison Syndrome |
|
Jaundice, Ascites, Dehydration, Decreased body weight |
ORPHA:1667 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Pruritus, Palmoplantar keratoderma, Nail dystrophy, Folli... |
ORPHA:158668 |
Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail d... |
OMIM:615726 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Absent pubic h... |
OMIM:148210 |
Proteus Syndrome |
|
Hyperkeratosis |
OMIM:176920 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair |
ORPHA:1806 |
Acquired Partial Lipodystrophy |
|
Generalized hirsutism, Progeroid facial appearance |
ORPHA:79087 |
Thanatophoric Dysplasia Type 1 |
|
Redundant skin, Polyhydramnios, Increased nuchal translucency, Excessive wrinkled skin, Acanthosi... |
ORPHA:1860 |
Stuve-Wiedemann Syndrome 1 |
|
Sparse hair, Death in infancy, Premature skin wrinkling, Oligohydramnios |
OMIM:601559 |
Pachyonychia Congenita 2 |
|
Subungual hyperkeratosis, Dry hair, Sparse scalp hair, Sparse eyebrow, Palmoplantar hyperkeratosi... |
OMIM:167210 |
Malignant Peritoneal Mesothelioma |
|
Ascites, Pedal edema, Weight loss |
ORPHA:168811 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Abnormal fingernail morphology, Pruritus, Anonychia, Palmoplantar keratoderma, Nail dystrophy, Sm... |
ORPHA:79410 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Failure to thrive, Polyhydramnios, Dehydration |
OMIM:214700 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer, Poor wound healing |
ORPHA:36386 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Redundant neck skin, Thick hair, Redundant skin, Abnormal subcutaneous fat tissue distribution, P... |
ORPHA:357074 |
Microvillus Inclusion Disease |
|
Pruritus, Dehydration |
ORPHA:2290 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Cutis marmorata, Failure to thrive in infancy, Hyperkeratosis, Frontal upsweep of hair, Broad eye... |
OMIM:301220 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Dry skin, Hyperkeratosis, Peau d'orange, Failure to thrive |
OMIM:614576 |
Pseudomyxoma Peritonei |
|
Ascites, Weight loss |
ORPHA:26790 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Acantholysis, Absent fingernail, Neonatal death, Anonychia, Alopecia universalis |
OMIM:609638 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Overweight, Dry skin, Follicular hyperkeratosis |
ORPHA:486815 |
Short Syndrome |
|
Sparse hair, Excessive wrinkled skin, Alopecia, Weight loss |
ORPHA:3163 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Edema, Jaundice, Dehydration, Weight loss, Pallor |
ORPHA:20 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Thymic Carcinoma |
|
Palpebral edema, Edema, Weight loss |
ORPHA:99868 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Erythema, Hydrops fetalis, Dehydration, Pallor, Death in childhood, Fa... |
OMIM:557000 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Prominent superficial veins, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Fa... |
OMIM:612940 |
Xfe Progeroid Syndrome |
|
Prematurely aged appearance, Cachexia, Dry skin, Death in adolescence, Ascites, Cutaneous photose... |
OMIM:610965 |
Neonatal Lupus Erythematosus |
|
Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Cutaneous photosensitivity, Ma... |
ORPHA:398124 |
Arthrogryposis Multiplex Congenita 5 |
|
Death in infancy, Premature skin wrinkling, Polyhydramnios |
OMIM:618947 |
Familial Keratoacanthoma |
|
Hyperkeratosis, Skin ulcer |
ORPHA:493 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Pleural Mesothelioma |
|
Pleural effusion, Weight loss |
ORPHA:50251 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
Fg Syndrome Type 1 |
|
Frontal upsweep of hair, Slender build, Facial wrinkling |
ORPHA:93932 |
Poems Syndrome |
|
Edema, Pericardial effusion, Thickened skin, Abnormality of skin physiology, Leukonychia, Weight ... |
ORPHA:2905 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Hypertonic dehydration |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Hypertonic dehydration |
OMIM:304800 |
Keppen-Lubinsky Syndrome |
|
Progeroid facial appearance, Premature skin wrinkling, Failure to thrive, Polyhydramnios |
ORPHA:435628 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Ectodermal dysplasia, Atrichia, Periungual erythema, Death in childhood,... |
OMIM:308205 |
Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis, Sparse scalp hair |
ORPHA:2611 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Abnormal toenail morphology, Prematurely aged appearance, Low posterior hairline |
ORPHA:1387 |
Cholera |
|
Palmoplantar cutis laxa, Miscarriage, Dehydration |
ORPHA:173 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Jaundice, Ichthy... |
ORPHA:59303 |
Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Dehydration |
OMIM:251110 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Skin rash, Edema, Pruritus, Weight loss, Palmoplantar pustulosis |
ORPHA:324964 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Skin rash, Failure to thrive in infancy, Pustule, Joint swelling, Hyperkeratosis |
OMIM:612852 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Scaling skin |
ORPHA:454831 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Prominent superficial veins, Cutis laxa, Fine hair, Excessive wrinkled skin, Sparse hair, Dermal ... |
OMIM:614438 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Skin rash, Skin ulcer, Weight loss, Failure to t... |
ORPHA:47 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Failure to thrive, Hirsutism, Dehydration |
ORPHA:90791 |
Donohue Syndrome |
|
Hyperkeratosis, Severe failure to thrive, Nail dysplasia, Acanthosis nigricans, Hypertrichosis |
OMIM:246200 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:281090 |
Wilson Disease |
|
Pruritus, Jaundice, Increased body weight, Weight loss, Joint swelling, Failure to thrive, Bruisi... |
ORPHA:905 |
Renal Hypoplasia |
|
Small for gestational age, Dehydration |
ORPHA:93101 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Weight loss, Eczema, Perioral eczema |
ORPHA:79242 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss, Pallor, Bruising susceptibility, Lymphedema |
ORPHA:3226 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Lip telangiectasia, An... |
ORPHA:79280 |
Werner Syndrome |
|
Prematurely aged appearance, Progeroid facial appearance, Subcutaneous calcification, Scleroderma... |
OMIM:277700 |
Nodular Non-Suppurative Panniculitis |
|
Erythema, Edema, Weight loss |
ORPHA:33577 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Dehydration, Oligohydramnios |
OMIM:263200 |
Darier-White Disease |
|
Ridged nail, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratotic fragments |
OMIM:124200 |
Campomelia, Cumming Type |
|
Death in infancy, Prematurely aged appearance, Lymphedema, Hydrops fetalis, Oligohydramnios |
ORPHA:1318 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Excessive wrinkled skin, Thick hair, Progeroid facial appearance |
ORPHA:357058 |
Lysosomal Acid Lipase Deficiency |
|
Cachexia, Pruritus, Jaundice, Dehydration, Weight loss, Ascites, Failure to thrive |
ORPHA:275761 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Benign Recurrent Intrahepatic Cholestasis |
|
Pruritus, Jaundice, Weight loss |
ORPHA:65682 |
Alternating Hemiplegia Of Childhood |
|
Dehydration, Pallor, Thin eyebrow, Failure to thrive, Flushing |
ORPHA:2131 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis,... |
OMIM:607721 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism |
ORPHA:79431 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Alopecia, Small for gesta... |
OMIM:264090 |
Polyarteritis Nodosa |
|
Erythema, Cutis marmorata, Skin ulcer, Weight loss |
ORPHA:767 |
Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Death in infancy, Cachexia |
ORPHA:157973 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Acne, Cachexia, Edema, Pustule, Weight loss, Failure to thrive |
ORPHA:77297 |
Premature Aging Syndrome, Penttinen Type |
|
Prominent superficial veins, Prematurely aged appearance, Thickened skin, Palmoplantar hyperkerat... |
OMIM:601812 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormal toenail morphology |
ORPHA:1005 |
Osteosarcoma |
|
Joint swelling, Weight loss |
ORPHA:668 |
Methylmalonic Aciduria, Cbla Type |
|
Failure to thrive, Dehydration |
OMIM:251100 |
Pseudoxanthoma Elasticum |
|
Acne, Skin rash, Telangiectasia of the skin, Pruritus, Lack of skin elasticity, Excessive wrinkle... |
ORPHA:758 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Recurrent skin infections, Edema, Paronychia, Fragile skin, Dehydration, Anonychia, Pyo... |
ORPHA:79404 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Prematurely aged appearance, Skin rash, Cachexia, Dry skin, Urticaria, Cutaneous photosensitivity |
ORPHA:220295 |
3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Dehydration |
OMIM:616271 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion |
OMIM:616298 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Jaundice, Low anterior hairline, Excessive wrinkled skin, Failure to thrive, Hy... |
OMIM:608779 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Trichiasis, Hyperkeratosis, Ectodermal dysplasia, Nail dysplasia, Trichodysplasia... |
OMIM:601701 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Pleural effusion, Generalized abnormality of skin, Atopic dermatitis, Weight loss |
ORPHA:2902 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Dry skin, Failure to thrive, Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617388 |
Juvenile Dermatomyositis |
|
Alopecia, Skin rash, Palpebral edema, Telangiectasia of the skin, Pruritus, Erythema, Skin ulcer,... |
ORPHA:93672 |
Fucosidosis |
|
Failure to thrive, Vascular skin abnormality, Acrocyanosis, Generalized hyperkeratosis, Abnormali... |
ORPHA:349 |
Shigellosis |
|
Urticaria, Failure to thrive in infancy, Dehydration, Purpura |
ORPHA:810 |
Vipoma |
|
Erythema, Dehydration, Intermittent jaundice, Weight loss, Ascites, Subcutaneous lipoma |
ORPHA:97282 |
Flynn-Aird Syndrome |
|
Alopecia, Skin ulcer, Cachexia |
ORPHA:2047 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Prominent superficial blood vessels, Cyanosis, Alopecia totalis, Loss of eyelashe... |
ORPHA:740 |
19Q13.11 Microdeletion Syndrome |
|
Cachexia, Supernumerary nipple, Dry skin, Fine hair, Sparse or absent eyelashes, Nail dysplasia, ... |
ORPHA:217346 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Dry hair, Cachexia, Fine hair, Cutaneous photosensitivity, P... |
ORPHA:191 |
Kaposi Sarcoma |
|
Weight loss, Skin rash, Lymphedema |
ORPHA:33276 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Aggressive Systemic Mastocytosis |
|
Maculopapular exanthema, Pruritus, Weight loss, Urticaria, Ascites, Flushing |
ORPHA:98850 |
Opitz-Kaveggia Syndrome |
|
Sparse hair, Frontal upsweep of hair, Facial wrinkling, Fine hair |
OMIM:305450 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal fingernail morphology, Weight loss |
ORPHA:1164 |
Eosinophilic Gastroenteritis |
|
Ascites, Atopic dermatitis, Edema, Weight loss |
ORPHA:2070 |
Ramon Syndrome |
|
Angiokeratoma, Telangiectasia, Hyperkeratosis, Decreased body weight, Hypertrichosis |
OMIM:266270 |
Ogden Syndrome |
|
Redundant neck skin, Prematurely aged appearance, Eczema, Redundant skin, Lymphedema, Sparse eyeb... |
OMIM:300855 |
Yao Syndrome |
|
Xerostomia, Inflammatory abnormality of the skin, Skin rash, Weight loss |
OMIM:617321 |
Classic Hodgkin Lymphoma |
|
Pruritus, Skin rash, Weight loss |
ORPHA:391 |
Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Redundant skin, Absent eyelashes, Hypoplastic nipples, Sparse hair, Premature ski... |
OMIM:200110 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse eyelashes, Sparse eyebrow, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, Sparse... |
OMIM:224900 |
Laron Syndrome |
|
Truncal obesity, Prematurely aged appearance |
ORPHA:633 |
Incontinentia Pigmenti |
|
Alopecia, Skin rash, Abnormal fingernail morphology, Supernumerary nipple, Telangiectasia of the ... |
ORPHA:464 |
Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Lymphedema, Lip telangiectasia, Angiokeratoma corporis diffusu... |
OMIM:609242 |
Reactive Arthritis |
|
Pustule, Weight loss, Joint swelling, Hyperkeratosis, Dystrophic fingernails, Abnormality of the ... |
ORPHA:29207 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Prominent scalp veins, Dermal translucenc... |
ORPHA:3455 |
Dend Syndrome |
|
Dehydration |
ORPHA:79134 |
Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail |
ORPHA:28378 |
De Barsy Syndrome |
|
Progeroid facial appearance, Prominent veins on trunk, Cutis laxa, Excessive wrinkled skin, Spars... |
ORPHA:2962 |
Noonan Syndrome 2 |
|
Curly hair, Polyhydramnios, Sparse eyebrow, Increased nuchal translucency, Low posterior hairline... |
OMIM:605275 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion, Weight loss |
ORPHA:411703 |
Colchicine Poisoning |
|
Alopecia, Dehydration |
ORPHA:31824 |
Oligomeganephronia |
|
Small for gestational age, Dehydration |
ORPHA:2260 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Chronic mucocutaneous candidiasis, Coarse hair, Nail dystrophy, Follicular hyperkeratos... |
OMIM:158310 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Polyhydramnios, Absent eyelashes, Atopic dermatiti... |
OMIM:115150 |
Christianson Syndrome |
|
Death in early adulthood, Thick eyebrow, Cachexia |
ORPHA:85278 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Progeroid facial appearance, Sparse eyebrow, Cutis laxa |
ORPHA:75496 |
Noonan Syndrome 10 |
|
Curly hair, Sparse eyebrow, Increased nuchal translucency, Hyperkeratosis, Palmoplantar cutis lax... |
OMIM:616564 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Alopecia, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Stillbi... |
OMIM:308050 |
Desmoplastic Small Round Cell Tumor |
|
Ascites, Cachexia, Weight loss |
ORPHA:83469 |
Trichothiodystrophy |
|
Ridged nail, Congenital exfoliative erythroderma, Sparse scalp hair, Brittle hair, Split nail, Ec... |
ORPHA:33364 |
Sialidosis Type 1 |
|
Hyperkeratosis, Vascular skin abnormality |
ORPHA:812 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:99885 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Thin eyebrow, Cachexia |
ORPHA:3242 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Alopecia, Small for gestational age, Lack of facial subcutaneous fat, Prematurely aged appearance... |
ORPHA:2959 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Eczema, Sparse eyelashes, Concave nail, Absent eyela... |
OMIM:305100 |
Spinocerebellar Ataxia 34 |
|
Epidermal hyperkeratosis, Erythroderma |
OMIM:133190 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis, Death in infancy |
ORPHA:163966 |
Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata, Dehydration |
OMIM:259900 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Prematurely aged appearance, Progeroid facial appearance, ... |
ORPHA:90153 |
Mcdonough Syndrome |
|
Synophrys, Cachexia |
ORPHA:2471 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Pustule, Angioedema, Erythema, Weight loss, Erythroderma |
ORPHA:139402 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Cachexia, Polyhydramnios |
OMIM:618186 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wound healing, Low... |
OMIM:618000 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Jaundice, Failure to thrive, Hydrops fetalis, Dehydration |
ORPHA:79282 |
Leishmaniasis |
|
Pallor, Skin ulcer, Weight loss |
ORPHA:507 |
Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
Non-Functioning Paraganglioma |
|
Flushing, Pallor, Weight loss |
ORPHA:94080 |
Autosomal Dominant Cutis Laxa |
|
Redundant neck skin, Prematurely aged appearance, Redundant skin, Cutis laxa, Premature skin wrin... |
ORPHA:90348 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Excessive wrinkled skin |
ORPHA:137608 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Alopecia, Brittle hair, Decreased adipose tissue around neck, Prominent... |
OMIM:608612 |
Recon Progeroid Syndrome |
|
Progeroid facial appearance, Hyperconvex thumb nails, Livedo reticularis, Absent lower eyelashes,... |
OMIM:620370 |
Bone Dysplasia, Lethal Holmgren Type |
|
Redundant neck skin, Failure to thrive, Weight loss |
ORPHA:1842 |
Wild Type Attr Amyloidosis |
|
Pleural effusion, Weight loss, Pedal edema, Pulmonary edema |
ORPHA:330001 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Failure to thrive, Polyhydramnios |
ORPHA:223 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Thickened skin, Weight loss, Hyperkeratosis, Long eyelashes, Bruising s... |
ORPHA:79430 |
Bone Marrow Failure Syndrome 3 |
|
Eczema, Hyperkeratosis, Nail dystrophy, Small nail, Sparse hair, Failure to thrive, Aplasia/Hypop... |
OMIM:617052 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Prematurely aged appearance, Progeroid facial appearance, Abnormal hair morphology, Nai... |
ORPHA:90154 |
Scleromyxedema |
|
Aged leonine appearance, Pruritus, Thickened skin, Generalized abnormality of skin, Sclerodactyly |
ORPHA:167635 |
Graves Disease, Susceptibility To, 1 |
|
Onycholysis, Weight loss |
OMIM:275000 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Palpebral edema, Prematurely aged appearance, Sparse eyebrow, Early b... |
ORPHA:2067 |
Systemic Capillary Leak Syndrome |
|
Pleural effusion, Weight loss, Pedal edema, Pulmonary edema |
ORPHA:188 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Wrinkly Skin Syndrome |
|
Redundant skin, Short nail, Progeroid facial appearance, Neonatal wrinkled skin of hands and feet... |
OMIM:278250 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Acne, Miscarriage, Frontal balding, Dehydration, Weight loss, Failure to thrive, Hirsutism |
ORPHA:90794 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Alopecia, Telangiectasia of the skin, Thickened skin, Erythema, Dry ... |
ORPHA:910 |
Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Death in infancy, Dehydration, Fine hair, Skin ulcer, Joint swelling, Failure ... |
ORPHA:534 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia, Progeroid facial appearance |
OMIM:617763 |
Atypical Werner Syndrome |
|
Abnormal hair quantity, Decreased body weight, Alopecia, Prematurely aged appearance, Prominent s... |
ORPHA:79474 |
Dopamine Beta-Hydroxylase Deficiency |
|
Dehydration |
ORPHA:230 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Redundant skin, Abnormal hair pattern, Absent eyelashes, Fine hair, Excessive wri... |
ORPHA:920 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Small nail, Sclerodactyly |
OMIM:610644 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cachexia, Xerostomia, Nail dystrophy, Nail dysplasia |
OMIM:175500 |
Infantile Nephropathic Cystinosis |
|
Failure to thrive, Dehydration |
ORPHA:411629 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Hyperkeratosis with erythema, Coarse hair |
OMIM:118650 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Bartter Syndrome Type 4 |
|
Small for gestational age, Polyhydramnios, Dehydration, Severe failure to thrive, Failure to thrive |
ORPHA:89938 |
Tetrasomy 12P |
|
Sparse hair, Sparse eyebrow, Cachexia |
ORPHA:884 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Weight loss, Pleural effusion, Ascites, Generalized edema |
ORPHA:90362 |
Seckel Syndrome |
|
Sparse scalp hair, Prematurely aged appearance, Cachexia |
ORPHA:808 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia, Polyhydramnios |
ORPHA:2774 |
Eec Syndrome |
|
Slow-growing hair, Sparse eyebrow, Xerostomia, Nail pits, Fine hair, Hyperkeratosis, Coarse hair,... |
ORPHA:1896 |
Takayasu Arteritis |
|
Skin ulcer, Weight loss |
ORPHA:3287 |
Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Failure to thrive, Slender build, Follicular hyperkeratosis |
OMIM:254090 |
Dermatomyositis |
|
Abnormal hair quantity, Telangiectasia of the skin, Edema, Periorbital edema, Pruritus, Erythema,... |
ORPHA:221 |
Rheumatoid Arthritis |
|
Joint swelling, Weight loss |
OMIM:180300 |
Mycetoma |
|
Recurrent bacterial skin infections, Prominent superficial veins, Cobblestone-like hyperkeratosis |
ORPHA:2583 |
Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Dehydration |
ORPHA:3008 |
Gm1 Gangliosidosis |
|
Thickened skin, Hydrops fetalis, Weight loss, Failure to thrive, Generalized hirsutism, Hirsutism |
ORPHA:354 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Orthokera... |
ORPHA:79501 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Wolman Disease |
|
Ascites, Cachexia |
ORPHA:75233 |
Aicardi-Goutieres Syndrome 9 |
|
Chilblains, Edema, Pericardial effusion, Dry skin, Weight loss, Ascites, Failure to thrive |
OMIM:619487 |
Pearson Syndrome |
|
Small for gestational age, Hydrops fetalis, Dehydration, Corneal stromal edema, Cutaneous photose... |
ORPHA:699 |
Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
Budd-Chiari Syndrome |
|
Jaundice, Ascites, Weight loss |
ORPHA:131 |
Microsporidiosis |
|
Cachexia, Dehydration, Weight loss |
ORPHA:2552 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Generalized hirsutism, Cachexia |
ORPHA:1933 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Skin ulcer, Weight loss |
ORPHA:86884 |
Bartter Syndrome, Type 3 |
|
Dehydration |
OMIM:607364 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Poor wound healing, Excessive wrinkled skin, Follicular hyperkeratosis, Palmoplantar cutis laxa, ... |
OMIM:225400 |
Cystinosis, Nephropathic |
|
Hypopigmentation of hair, Failure to thrive in infancy, Dehydration, Weight loss |
OMIM:219800 |
Ménétrier Disease |
|
Peripheral edema, Weight loss |
ORPHA:2494 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Dry hair, Small for gestational age, Prematurely aged appear... |
OMIM:133540 |
Distal Renal Tubular Acidosis |
|
Failure to thrive, Dehydration |
ORPHA:18 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hypoplastic fingernail, Dehydration, Oligohydramnios |
ORPHA:96191 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Failure to thrive, Dehydration |
ORPHA:168558 |
Down Syndrome |
|
Sparse hair, Prematurely aged appearance, Obesity |
ORPHA:870 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Failure to thrive, Dehydration |
ORPHA:289548 |
Huntington Disease |
|
Decreased body mass index, Weight loss |
ORPHA:399 |
Pneumocystosis |
|
Pleural effusion, Weight loss, Chronic oral candidiasis |
ORPHA:723 |
Primary Myelofibrosis |
|
Cachexia, Pallor, Ecchymosis, Petechiae, Purpura |
ORPHA:824 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Xer... |
OMIM:604292 |
Peripheral Primitive Neuroectodermal Tumor |
|
Pruritus, Jaundice, Ascites, Weight loss |
ORPHA:370348 |
Juvenile Nephropathic Cystinosis |
|
Failure to thrive, Dehydration |
ORPHA:411634 |
Bartter Syndrome, Type 1, Antenatal |
|
Failure to thrive, Small for gestational age, Polyhydramnios, Dehydration |
OMIM:601678 |
Aredyld Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Cachexia |
ORPHA:1133 |
Adrenocortical Carcinoma |
|
Hypertrichosis, Increased body weight, Striae distensae, Weight loss |
ORPHA:1501 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Weight loss |
ORPHA:298 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Prominent superficial veins, Sparse eyelashes, Progeroid facial appe... |
OMIM:614008 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Reduced subcutaneous adipose tissue, Curly hair, Prematurely aged appearance, Low anterior hairli... |
OMIM:619950 |
Primary Fanconi Renotubular Syndrome |
|
Dehydration, Weight loss |
ORPHA:3337 |
Rhabdoid Tumor |
|
Weight loss |
ORPHA:69077 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Xer... |
OMIM:129900 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Leprechaunism |
|
Facial hypertrichosis, Reduced subcutaneous adipose tissue, Thickened skin, Hyperkeratosis, Decre... |
ORPHA:508 |
Neuroleptic Malignant Syndrome |
|
Dehydration |
ORPHA:94093 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss |
ORPHA:3208 |
Chime Syndrome |
|
Erythema, Skin ulcer, Fine hair, Hyperkeratosis, Ichthyosis, Sparse hair |
ORPHA:3474 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Excessive wrinkled skin, Abnormality of subcutaneous fat tissue |
ORPHA:1901 |
Cryptogenic Organizing Pneumonia |
|
Cyanosis, Weight loss |
ORPHA:1302 |
Acute Promyelocytic Leukemia |
|
Weight loss, Ecchymosis, Bruising susceptibility, Petechiae, Purpura |
ORPHA:520 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Eczema, Abnormal eyelash morphology, Abnormal hair mor... |
ORPHA:2273 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Progeroid facial appearance |
ORPHA:412057 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Skin rash, Cutis marmorata, Weight loss, Urticaria, Acrocyanosis, Purpura |
ORPHA:183 |
Chronic Graft Versus Host Disease |
|
Alopecia, Poor wound healing, Thickened skin, Erythema, Xerostomia, Skin ulcer, Weight loss, Onyc... |
ORPHA:99921 |
Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
Bartter Syndrome, Type 2, Antenatal |
|
Failure to thrive, Small for gestational age, Polyhydramnios, Dehydration |
OMIM:241200 |
Acute Monoblastic/Monocytic Leukemia |
|
Periorbital edema, Weight loss |
ORPHA:514 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Cutis Laxa, Autosomal Dominant 1 |
|
Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor wound healing, Cut... |
OMIM:123700 |
Kikuchi-Fujimoto Disease |
|
Alopecia, Skin rash, Palpebral edema, Pruritus, Pustule, Erythema, Weight loss, Cutaneous photose... |
ORPHA:50918 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Generalized hirsutism, Prematur... |
ORPHA:280365 |
Marburg Hemorrhagic Fever |
|
Skin rash, Maculopapular exanthema, Jaundice, Dehydration, Bruising susceptibility, Petechiae |
ORPHA:99826 |
Insulin-Resistance Syndrome Type B |
|
Alopecia, Skin rash, Abnormality of body weight, Increased body weight, Weight loss, Decreased bo... |
ORPHA:2298 |
Restrictive Dermopathy 1 |
|
Prominent superficial blood vessels, Sparse eyelashes, Short nail, Polyhydramnios, Epidermal hype... |
OMIM:275210 |
Mucolipidosis Type Ii |
|
Dry hair, Thickened skin, White hair, Weight loss, Fine hair, Telangiectases of the cheeks, Oligo... |
ORPHA:576 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Familial Thrombocytosis |
|
Pruritus, Miscarriage, Weight loss |
ORPHA:71493 |
Cystic Fibrosis |
|
Failure to thrive, Dehydration |
OMIM:219700 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Failure to thrive, Eczema, Weight loss |
OMIM:212750 |
Gallbladder Neuroendocrine Tumor |
|
Intermittent jaundice, Ascites, Weight loss |
ORPHA:100086 |
X-Linked Intellectual Disability, Cabezas Type |
|
Abnormal hair pattern, Cachexia, Synophrys, Obesity, Acanthosis nigricans |
ORPHA:85293 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Dehydration |
ORPHA:90038 |
Rat-Bite Fever |
|
Skin rash, Maculopapular exanthema, Erythema nodosum, Pustule, Weight loss, Scaling skin, Morbill... |
ORPHA:31205 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Death in infancy, Sparse eyelashes, Sparse eyebrow, Dry skin, Fine hair, Hyper... |
OMIM:210710 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Recurrent skin infections, Eczema,... |
ORPHA:37042 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Intermittent jaundice, Ascites, Facial telangiectasia, Weight loss |
ORPHA:100085 |
Leprosy |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Penetrating foot ulcers, Hyperkeratosis, Acral ulcer... |
ORPHA:548 |
Proximal Renal Tubular Acidosis |
|
Failure to thrive, Dehydration |
ORPHA:47159 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Abnormal toenail m... |
ORPHA:2908 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pruritus, Weight loss, Urticaria, Pallor, Flushing |
ORPHA:98849 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Klatskin Tumor |
|
Jaundice, Weight loss |
ORPHA:99978 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Flushing, Pallor, Weight loss |
ORPHA:276621 |
Polycythemia Vera |
|
Pruritus, Bruising susceptibility, Weight loss |
ORPHA:729 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Bruising susceptibility, Progeroid facial appearance, Oligoh... |
OMIM:616914 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Dry hair, Prematurely aged appearance, Progeroid facial appe... |
OMIM:216400 |
Giant Cell Arteritis |
|
Alopecia, Skin ulcer, Weight loss |
ORPHA:397 |
Bethlem Myopathy |
|
Hyperkeratosis |
ORPHA:610 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Pallor, Weight loss |
ORPHA:35858 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Malignant Atrophic Papulosis |
|
Pleural effusion, Telangiectasia of the skin, Weight loss |
ORPHA:679 |
Acquired Generalized Lipodystrophy |
|
Acanthosis nigricans, Generalized hirsutism, Progeroid facial appearance |
ORPHA:79086 |
Geroderma Osteodysplastica |
|
Prematurely aged appearance, Redundant skin |
ORPHA:2078 |
Al Amyloidosis |
|
Peripheral edema, Xerostomia, Bruising susceptibility, Weight loss |
ORPHA:85443 |
Multiple Endocrine Neoplasia Type 1 |
|
Dehydration, Weight loss |
ORPHA:652 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Plethora, Sparse scalp hair, Purpura, Striae distensae, Acne, Dorsocervical fat pad, Poor wound h... |
ORPHA:99889 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Skin rash, Eczema, Weight loss |
ORPHA:79128 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis, Pilomatrixoma |
OMIM:620189 |
Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
Toxic Epidermal Necrolysis |
|
Erythema, Weight loss, Skin ulcer, Acantholysis |
ORPHA:537 |
X-Linked Creatine Transporter Deficiency |
|
Redundant skin, Cachexia |
ORPHA:52503 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis, High anterior hairline |
OMIM:615510 |
Thymic Neuroendocrine Tumor |
|
Prominent veins on trunk, Weight loss |
ORPHA:97289 |
Refractory Celiac Disease |
|
Inflammatory abnormality of the skin, Weight loss |
ORPHA:398063 |
Amoebiasis Due To Entamoeba Histolytica |
|
Pleural effusion, Pleural empyema, Weight loss |
ORPHA:67 |
Bronchial Neuroendocrine Tumor |
|
Dermatological manifestations of systemic disorders, Facial telangiectasia, Weight loss |
ORPHA:97287 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Alopecia, Small for gestational age, Eczema, Hyperkeratosis, Ectodermal dysplasia, Ichthyosis, Fa... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Alopecia, Small for gestational age, Eczema, Hyperkeratosis, Ectodermal dysplasia, Ichthyosis, Fa... |
ORPHA:363958 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Redundant skin, Progeroid facial appearance, Periorbital edema, Cutis laxa, Dea... |
OMIM:613177 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Caroli Disease |
|
Pruritus, Jaundice, Ascites, Weight loss |
ORPHA:53035 |
Anaplastic Thyroid Carcinoma |
|
Weight loss |
ORPHA:142 |
Lymphatic Filariasis |
|
Hyperkeratosis, Predominantly lower limb lymphedema, Lymphedema |
ORPHA:2035 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Bruising susceptibility, Follicular hyperkeratosis, Polyhydramnios, Cutis laxa |
OMIM:614557 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Joint swelling, Weight loss |
ORPHA:465508 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia |
ORPHA:42 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Progeroid facial appearance, Cutaneous photosensitivity, Cutaneous t... |
OMIM:615919 |
Fabry Disease |
|
Conjunctival telangiectasia, Telangiectasia of the skin, Angiokeratoma, Lymphedema, Hyperkeratosi... |
ORPHA:324 |
Wrinkly Skin Syndrome |
|
Excessive skin wrinkling on dorsum of hands and fingers, Prominent veins on trunk, Cutis laxa, Ex... |
ORPHA:2834 |
Aicardi-Goutieres Syndrome 7 |
|
Skin rash, Chilblains, Edema, Pericardial effusion, Atopic dermatitis, Weight loss, Urticaria, Ol... |
OMIM:615846 |
Restrictive Dermopathy |
|
Short nail, Polyhydramnios, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the ... |
ORPHA:1662 |
Simple Cryoglobulinemia |
|
Weight loss, Cold urticaria, Acral ulceration, Vascular skin abnormality, Purpura |
ORPHA:91139 |
Castleman Disease |
|
Jaundice, Anasarca, Weight loss |
ORPHA:160 |
Q Fever |
|
Maculopapular exanthema, Pericardial effusion, Weight loss, Pleural effusion, Purpura |
ORPHA:781 |
Stevens-Johnson Syndrome |
|
Erythema, Weight loss, Acantholysis |
ORPHA:36426 |
Noonan Syndrome With Multiple Lentigines |
|
Excessive wrinkled skin |
ORPHA:500 |
Glucagonoma |
|
Skin rash, Necrolytic migratory erythema, Pruritus, Weight loss, Intermittent jaundice, Ascites, ... |
ORPHA:97280 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cutaneous photosensitivity, Cachexia |
ORPHA:3217 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Sparse axillary hair, Progeroid facial appearance, Erythema nodosum, Erythema, Death in adolescen... |
OMIM:256040 |
Thymoma |
|
Scleroderma, Weight loss |
ORPHA:99867 |
Neuroendocrine Tumor Of The Colon |
|
Facial telangiectasia, Weight loss |
ORPHA:100080 |
6Q Terminal Deletion Syndrome |
|
Highly arched eyebrow, Low anterior hairline, Obesity, Hyperkeratosis, Failure to thrive |
ORPHA:75857 |
Ileal Neuroendocrine Tumor |
|
Dermatological manifestations of systemic disorders, Edema, Weight loss |
ORPHA:100078 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
Keppen-Lubinsky Syndrome |
|
Progeroid facial appearance, Failure to thrive, Lack of facial subcutaneous fat, Polyhydramnios |
OMIM:614098 |
Cystic Echinococcosis |
|
Urticaria, Jaundice, Weight loss |
ORPHA:400 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cutis marmorata, Cachexia, Lymphedema, Telangiectasia, Subcutaneous hemorrhage |
ORPHA:109 |
Alveolar Echinococcosis |
|
Jaundice, Weight loss, Pedal edema, Cutaneous abscess |
ORPHA:284 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Purpura, Petechiae, Weight loss |
ORPHA:85450 |
Acute Adrenal Insufficiency |
|
Dry skin, Failure to thrive, Sparse axillary hair, Weight loss |
ORPHA:95409 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Flushing, Pallor, Weight loss |
ORPHA:29072 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Weight loss |
OMIM:256700 |
Cockayne Syndrome Type 2 |
|
Progeroid facial appearance |
ORPHA:90322 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Weight loss |
ORPHA:747 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Death in early adulthood, Slender build, Cachexia, Weight loss |
OMIM:603041 |
De Sanctis-Cacchione Syndrome |
|
Parakeratosis, Cutaneous photosensitivity, Telangiectasia |
OMIM:278800 |
Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Dry skin, Weight loss |
ORPHA:199299 |
Primary Sclerosing Cholangitis |
|
Spider hemangioma, Pruritus, Jaundice, Dilated superficial abdominal veins, Weight loss, Palmar t... |
ORPHA:171 |
Neuroendocrine Tumor Of The Rectum |
|
Facial telangiectasia, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Facial telangiectasia, Weight loss |
ORPHA:100082 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat... |
ORPHA:83617 |
Cockayne Syndrome Type 1 |
|
Cutaneous photosensitivity, Failure to thrive, Progeroid facial appearance |
ORPHA:90321 |
Lynch Syndrome |
|
Death in infancy, Death in early adulthood, Weight loss |
ORPHA:144 |
Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
Igg4-Related Retroperitoneal Fibrosis |
|
Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Pedal edema, Weight loss |
ORPHA:49041 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Prematurely aged appearance, Redundant skin |
ORPHA:3342 |
Whipple Disease |
|
Cachexia, Pedal edema |
ORPHA:3452 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Progeroid facial appearance, Sparse eyebrow, Palmoplantar hyperkeratosis, Nail dystrophy, Death i... |
OMIM:619127 |
Polymyositis |
|
Weight loss |
ORPHA:732 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic sweat glands, Epidermal thick... |
ORPHA:73223 |
Riddle Syndrome |
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Conjunctival telangiectasia, Erythema, Telangiectasia, Weight loss, Scaling skin |
ORPHA:420741 |
Erdheim-Chester Disease |
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Joint swelling, Pleural effusion, Skin rash, Weight loss |
ORPHA:35687 |
Ppoma |
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Intermittent jaundice, Ascites, Subcutaneous lipoma, Weight loss |
ORPHA:97278 |
8P23.1 Microdeletion Syndrome |
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Obesity, Weight loss |
ORPHA:251071 |
Saul-Wilson Syndrome |
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Prominent superficial veins, Progeroid facial appearance |
OMIM:618150 |
Chromosome Xp11.3 Deletion Syndrome |
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Progeroid facial appearance |
OMIM:300578 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Edema, Weight loss |
ORPHA:309031 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Hydrops fetalis, Weight loss |
OMIM:613673 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
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Hyperparakeratosis, Telangiectasia of the skin, Seborrheic dermatitis |
ORPHA:276280 |
Warburg-Cinotti Syndrome |
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Poor wound healing, Joint swelling, Erythema, Follicular hyperkeratosis |
OMIM:618175 |
Pancreatoblastoma |
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Jaundice, Weight loss |
ORPHA:677 |
Neuroendocrine Tumor Of Stomach |
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Dermatological manifestations of systemic disorders, Facial telangiectasia, Weight loss |
ORPHA:100075 |
Schwartz-Jampel Syndrome |
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Abnormal eyebrow morphology, Death in infancy, Cachexia, Polyhydramnios, Low anterior hairline, D... |
ORPHA:800 |
Arterial Tortuosity Syndrome |
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Progeroid facial appearance, Bruising susceptibility, Telangiectases of the cheeks, Cutis laxa |
OMIM:208050 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Weight loss |
ORPHA:54251 |
Silver-Russell Syndrome |
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Failure to thrive in infancy, Obesity, Cachexia |
ORPHA:813 |
Immunodeficiency 31C |
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Eczema, Chronic mucocutaneous candidiasis, Weight loss, Chronic oral candidiasis, Recurrent vulvo... |
OMIM:614162 |
Oculogastrointestinal Muscular Dystrophy |
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Cachexia |
ORPHA:1876 |
Classical Ehlers-Danlos Syndrome |
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Striae distensae, Prematurely aged appearance, Poor wound healing, Joint swelling, Blepharochalas... |
ORPHA:287 |
Somatostatinoma |
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Intermittent jaundice, Ascites, Subcutaneous lipoma, Weight loss |
ORPHA:97283 |
Pyomyositis |
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Recurrent cutaneous abscess formation, Weight loss |
ORPHA:764 |
Familial Glucocorticoid Deficiency |
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Failure to thrive, Weight loss |
ORPHA:361 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Small for gestational age, Weight loss |
ORPHA:424 |
Solitary Fibrous Tumor |
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Weight loss |
ORPHA:2126 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
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Poor wound healing, Synophrys, Follicular hyperkeratosis, Bruising susceptibility, Fragile skin |
ORPHA:536545 |
Xeroderma Pigmentosum, Complementation Group B |
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Cutaneous photosensitivity, Progeroid facial appearance |
OMIM:610651 |
Tropical Pancreatitis |
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Jaundice, Weight loss |
ORPHA:103918 |
Infantile Krabbe Disease |
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Failure to thrive, Cachexia |
ORPHA:206436 |
Grfoma |
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Intermittent jaundice, Ascites, Subcutaneous lipoma, Weight loss |
ORPHA:97261 |
Granulomatosis With Polyangiitis |
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Skin ulcer, Weight loss |
OMIM:608710 |
Granulomatosis With Polyangiitis |
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Skin rash, Periorbital edema, Skin ulcer, Weight loss, Purpura |
ORPHA:900 |
Tsh-Secreting Pituitary Adenoma |
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Pericardial effusion, Pallor, Abnormal hair quantity, Weight loss |
ORPHA:91347 |
Addison Disease |
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Dry skin, Failure to thrive, Sparse axillary hair, Weight loss |
ORPHA:85138 |
Postinfectious Vasculitis |
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Inflammatory abnormality of the skin, Palpable purpura, Cutis marmorata, Weight loss, Vasculitis ... |
ORPHA:48435 |
Brucellosis |
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Small for gestational age, Miscarriage, Weight loss, Pleural effusion, Failure to thrive, Purpura |
ORPHA:1304 |
Juvenile Amyotrophic Lateral Sclerosis |
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Cachexia |
ORPHA:300605 |
Nijmegen Breakage Syndrome |
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Abnormal hair quantity, Cachexia, Abnormal hair morphology, Low anterior hairline, Cutaneous phot... |
ORPHA:647 |
Glossopharyngeal Neuralgia |
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Weight loss |
ORPHA:221098 |
Fryns-Smeets-Thiry Syndrome |
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Cachexia |
ORPHA:2058 |
Gerstmann-Straussler Disease |
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Weight loss |
OMIM:137440 |
Rett Syndrome |
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Cachexia |
OMIM:312750 |
Lenz-Majewski Hyperostotic Dwarfism |
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Hyperconvex fingernails, Prematurely aged appearance, Redundant skin, Hypoplastic fingernail |
ORPHA:2658 |
Carney-Stratakis Syndrome |
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Weight loss |
ORPHA:97286 |
Trisomy 18 |
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Abnormal toenail morphology, Cachexia, Oligohydramnios |
ORPHA:3380 |
Multiple Myeloma |
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Pleural effusion, Weight loss |
ORPHA:29073 |
Pulmonary Alveolar Microlithiasis |
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Peripheral edema, Cyanosis, Weight loss |
ORPHA:60025 |
Cowden Syndrome |
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Failure to thrive, Palmoplantar keratoderma, Generalized hyperkeratosis, Mucosal telangiectasiae |
ORPHA:201 |
Proteus Syndrome |
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Cachexia, Lymphedema, Thickened skin, Abnormal subcutaneous fat tissue distribution, Vascular ski... |
ORPHA:744 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
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Joint swelling, Weight loss |
ORPHA:85408 |
Vascular Ehlers-Danlos Syndrome |
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Alopecia, Prematurely aged appearance, Redundant skin, Telangiectasia of the skin, Abnormality of... |
ORPHA:286 |
Familial Pancreatic Carcinoma |
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Jaundice, Weight loss |
ORPHA:1333 |
Congenital Fiber-Type Disproportion Myopathy |
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Failure to thrive, Polyhydramnios, Weight loss |
ORPHA:2020 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
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Failure to thrive, Weight loss |
ORPHA:1018 |
Familial Colorectal Cancer Type X |
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Weight loss |
ORPHA:440437 |
Familial Gestational Hyperthyroidism |
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Weight loss |
ORPHA:99819 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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Weight loss |
OMIM:607459 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Perianal abscess, Skin rash, Weight loss |
OMIM:301074 |
Cerebrotendinous Xanthomatosis |
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Prematurely aged appearance, Prolonged neonatal jaundice |
ORPHA:909 |
Immunodeficiency 82 With Systemic Inflammation |
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Recurrent skin infections, Skin rash, Weight loss, Joint swelling, Vasculitis in the skin, Pustul... |
OMIM:619381 |
Branchioskeletogenital Syndrome |
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Absent nipple, Highly arched eyebrow, Synophrys, Blepharochalasis, Periorbital wrinkles |
ORPHA:1299 |
Hereditary Late-Onset Parkinson Disease |
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Weight loss |
ORPHA:411602 |
Williams Syndrome |
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Death in early adulthood, Abnormal fingernail morphology, Failure to thrive in infancy, Redundant... |
ORPHA:904 |
Zollinger-Ellison Syndrome |
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Jaundice, Erythema, Weight loss |
ORPHA:913 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Facial edema, Xerostomia, Palpebral edema, Weight loss |
ORPHA:79078 |
Renal Nutcracker Syndrome |
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Weight loss |
ORPHA:71273 |
Sarcoidosis |
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Alopecia, Maculopapular exanthema, Erythema nodosum, Weight loss, Joint swelling, Chylothorax, Pl... |
ORPHA:797 |
Behçet Disease |
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Pleural effusion, Acne, Weight loss |
ORPHA:117 |
Thyrotoxic Periodic Paralysis |
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Obesity, Weight loss |
ORPHA:79102 |
Fanconi Anemia |
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Weight loss, Oligohydramnios |
ORPHA:84 |
Nocardiosis |
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Pleural effusion, Weight loss, Cutaneous abscess |
ORPHA:31204 |
African Trypanosomiasis |
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Alopecia, Miscarriage, Pruritus, Jaundice, Weight loss |
ORPHA:3385 |
Sarcoidosis, Susceptibility To, 1 |
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Pericardial effusion, Pleural effusion, Weight loss |
OMIM:181000 |
Malt Lymphoma |
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Weight loss |
ORPHA:52417 |
Igg4-Related Kidney Disease |
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Inflammatory abnormality of the skin, Pedal edema, Weight loss |
ORPHA:449395 |
Oculopharyngodistal Myopathy 1 |
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Weight loss |
OMIM:164310 |
Juvenile Polyposis Of Infancy |
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Subcutaneous lipoma, Cachexia |
ORPHA:79076 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Poor wound healing, Ecchymosis, Skin ulcer, Cachexia |
ORPHA:2072 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Weight loss, Skin rash, Cystoid macular edema, Macular edema |
ORPHA:91500 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
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Cachexia |
ORPHA:1969 |
Parathyroid Carcinoma |
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Weight loss |
ORPHA:143 |
Marfan Syndrome |
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Striae distensae, Slender build, Cachexia |
ORPHA:558 |
Camurati-Engelmann Disease |
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Abnormal subcutaneous fat tissue distribution, Slender build, Cachexia |
ORPHA:1328 |
Goodpasture Syndrome |
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Cyanosis, Pallor, Weight loss |
OMIM:233450 |
Tropical Endomyocardial Fibrosis |
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Cachexia, Peripheral edema, Ascites, Pedal edema |
ORPHA:75565 |
Choreoacanthocytosis |
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Weight loss |
ORPHA:2388 |
Stickler Syndrome |
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Slender build, Cachexia |
ORPHA:828 |
Norrie Disease |
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Failure to thrive, Cachexia |
ORPHA:649 |