| Retinitis Pigmentosa, Late-Adult Onset |
|
Rod-cone dystrophy |
OMIM:268025 |
| Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
| Retinitis Pigmentosa 24 |
|
Rod-cone dystrophy, 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 |
|
Retinal dystrophy, Drusen, Reticular pigmentary degeneration |
OMIM:267800 |
| Choroidal Dystrophy, Central Areolar, 3 |
|
Chorioretinal atrophy, Drusen |
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 |
|
Generalized abnormality of skin, Palmoplantar hyperkeratosis, Hyperkeratotic papule, Porokeratosi... |
ORPHA:737 |
| Porokeratosis Of Mibelli |
|
Hyperkeratosis, Porokeratosis, Pruritus, Cutaneous photosensitivity |
ORPHA:735 |
| Keratosis, Focal Palmoplantar And Gingival |
|
Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat... |
OMIM:148730 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy |
OMIM:215500 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Perifollicular hyperkeratosis, Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Prurit... |
ORPHA:505 |
| Aquagenic Palmoplantar Keratoderma |
|
Palmoplantar keratoderma, Excessive skin wrinkling on dorsum of hands and fingers, Palmar pruritu... |
ORPHA:498359 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis, Abnormal hair morphology |
OMIM:617756 |
| Macular Degeneration, Age-Related, 13 |
|
Macular degeneration, Macular scar, Drusen, Choroidal neovascularization |
OMIM:615439 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Pruritus |
OMIM:146750 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma, Perioral hyperkeratosis,... |
OMIM:613000 |
| Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hypergranulosis, Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
| Retinitis Pigmentosa 36 |
|
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... |
OMIM:610599 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections |
OMIM:244850 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... |
OMIM:613830 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold |
OMIM:617572 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Ulerythema Ophryogenesis |
|
Facial erythema, Contact dermatitis, Miscarriage, Dry skin, Sparse lateral eyebrow, Acne, Hyperke... |
ORPHA:3406 |
| Anonychia With Flexural Pigmentation |
|
Macular telangiectasia, Alopecia of scalp, Abnormal hair morphology, Hyperkeratosis, Anonychia, F... |
ORPHA:69125 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis, Fragile skin |
OMIM:615028 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Ichthyosis, Cutaneous photosensitivity, Brittle hair, Tiger tail banding, Congenital nonbullous i... |
OMIM:618546 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Scaling skin, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform ... |
OMIM:617571 |
| Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Ichthyosis, Skin ulcer, Palmoplantar keratoderma, Cutaneous photosensitivity, Hyperkeratosis, Con... |
ORPHA:312 |
| Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dysplasia, Nail dystrophy, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly, Palmopl... |
OMIM:212360 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Nail dystrophy, Ichthyosis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Recurrent skin i... |
ORPHA:79503 |
| Hypotrichosis 6 |
|
Erythema, Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti, Pruritus, Foll... |
OMIM:607903 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis, Cutaneous photosensitivity |
ORPHA:1336 |
| Hidrotic Ectodermal Dysplasia |
|
Nail dystrophy, Small nail, Thickened skin, Generalized hypotrichosis, Sparse hair, Sparse axilla... |
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 |
|
Thickened skin, Hyperkeratosis |
ORPHA:1659 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Hyperkeratosis, Dystrophic toenail, Absent toenail, Failure to thrive, Abnormal fing... |
ORPHA:89838 |
| Ichthyosis Hystrix, Lambert Type |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis |
OMIM:146600 |
| Chronic Hiccup |
|
Dehydration, Weight loss |
ORPHA:396 |
| Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Generalized hirsutism |
ORPHA:2297 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Nail dystrophy, Parakeratosis, Onychogryposis, Generalized ichthyosis, Hyperkeratosis, Scaling sk... |
ORPHA:79395 |
| Lamellar Ichthyosis |
|
Ichthyosis, Abnormality of the nail, Hyperkeratosis, Dehydration, Dry skin, Lack of skin elastici... |
ORPHA:313 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Nail dystrophy, Pruritus |
OMIM:131850 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis, Nail dystrophy, Fine hair, Sparse hair |
OMIM:300652 |
| Ichthyosis With Erythrokeratoderma |
|
Scaling skin, Leukonychia, Parakeratosis, Palmoplantar keratoderma, Erythema, Diffuse palmoplanta... |
OMIM:620507 |
| Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
| Epidermolytic Hyperkeratosis 2A, Autosomal Dominant |
|
Generalized hyperkeratosis, Palmoplantar keratoderma, Hyperkeratosis, Cobblestone-like hyperkerat... |
OMIM:620150 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Palmoplantar keratoderma, Generalized ichthyosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, ... |
OMIM:615024 |
| Dermatoleukodystrophy |
|
Thickened skin, Premature skin wrinkling, Progeroid facial appearance |
OMIM:221790 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... |
OMIM:312700 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythema, Palmoplantar hyperker... |
OMIM:617526 |
| Moynahan Syndrome |
|
Cachexia, Hyperkeratosis, Sparse hair, Alopecia |
ORPHA:2574 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
| Elastoderma |
|
Cutis laxa, Erysipelas, Premature skin wrinkling, Eczematoid dermatitis |
ORPHA:228240 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Lymphatic Malformation 4 |
|
Toenail dysplasia, Hyperkeratosis, Lymphedema, Prominent superficial veins, Pedal edema |
OMIM:615907 |
| Hypotrichosis Simplex Of The Scalp |
|
Slow-growing scalp hair, Scaling skin, Alopecia of scalp, Parakeratosis, Hyperkeratosis, Sparse s... |
ORPHA:90368 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Dehydration |
OMIM:601410 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Dehydration |
OMIM:610370 |
| Netherton Syndrome |
|
Trichorrhexis nodosa, Ichthyosis, Acanthosis nigricans, Abnormal hair morphology, Skin rash, Dehy... |
ORPHA:634 |
| Erythrokeratodermia Variabilis |
|
Abnormal hair morphology, Abnormality of the nail, Cutaneous photosensitivity, Skin rash, Hyperke... |
ORPHA:317 |
| Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Nail dystrophy, Hyperkeratosis, Skin fragility with non-scarring blistering, Plantar hyperkeratos... |
ORPHA:79399 |
| Schopf-Schulz-Passarge Syndrome |
|
Narrow nail, Nail dystrophy, Thin nail, Ridged nail, Small nail, Hyperkeratosis, Ectodermal dyspl... |
OMIM:224750 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... |
OMIM:180210 |
| Acquired Ichthyosis |
|
Ichthyosis, Hyperkeratosis, Dry skin, Pruritus, Palmoplantar keratoderma, Recurrent skin infectio... |
ORPHA:454 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Macular Degeneration, Age-Related, 1 |
|
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... |
OMIM:603075 |
| Bazex Syndrome |
|
Scaling skin, Nail dystrophy, Yellow nails, Parakeratosis, Palmoplantar keratoderma, Acanthosis n... |
ORPHA:166113 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Ichthyosis, Palmoplantar keratoderma, Scarring alopecia of scalp, Absent eyelashes, Hyperkeratosi... |
OMIM:602540 |
| Classic Mycosis Fungoides |
|
Skin ulcer, Erythema, Abnormality of the nail, Skin rash, Hyperkeratosis, Dry skin, Eczematoid de... |
ORPHA:2584 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Nail dysplasia, Leukonychia, Brittle hair, Sparse eyebrow, Palmoplantar erythema, Sparse hair, Pa... |
OMIM:104100 |
| Parana Hard Skin Syndrome |
|
Thickened skin, Hyperkeratosis, Generalized hirsutism |
ORPHA:2812 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Abnormal hair morphology, Hyperkeratosis, Honeycomb palmoplantar hyperkeratosis, H... |
OMIM:604117 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... |
ORPHA:59181 |
| Combined Malonic And Methylmalonic Aciduria |
|
Failure to thrive, Dehydration |
OMIM:614265 |
| Olmsted Syndrome 2 |
|
Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Woolly hair, Sparse hair, Palmoplantar hy... |
OMIM:619208 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Facial erythema, Palmar pruritus, Pruritus on foot, Increased body weight, Eczemat... |
ORPHA:64745 |
| Ichthyosis, Annular Epidermolytic, 1 |
|
Scaling skin, Ichthyosis, Hyperparakeratosis, Abnormal hair morphology, Abnormality of the nail, ... |
OMIM:607602 |
| Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
| Non-Acquired Isolated Growth Hormone Deficiency |
|
Abdominal obesity, Premature skin wrinkling, Sparse hair, Prolonged neonatal jaundice |
ORPHA:631 |
| Leber Congenital Amaurosis 19 |
|
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor |
OMIM:618513 |
| Reticular Dysgenesis |
|
Skin ulcer, Skin rash, Dehydration, Failure to thrive, Weight loss |
ORPHA:33355 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Nail dystrophy, Ichthyosis, Parakeratosis, Linear arrays of macular hyperkeratoses in flexural ar... |
OMIM:601952 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration, Death in infancy |
OMIM:251850 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Leukonychia, Nail dystrophy, Parakeratosis, Erythema, Ichthyosis, Hyperkeratosis, Woolly hair, Fr... |
OMIM:615821 |
| Familial Drusen |
|
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... |
ORPHA:75376 |
| Monilethrix |
|
Brittle hair, Abnormality of the nail, Slow-growing hair, Abnormal eyelash morphology, Patchy alo... |
ORPHA:573 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Dehydration, Long eyelashes, Failure to thrive, Pustule |
OMIM:616069 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Scaling skin, Alopecia of scalp, Generalized hyperkeratosis, Absent pubic hair, Generalized ichth... |
ORPHA:2269 |
| Netherton Syndrome |
|
Parakeratosis, Brittle hair, Sparse scalp hair, Eczematoid dermatitis, Angioedema, Failure to thr... |
OMIM:256500 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Exudative retinal detachment |
OMIM:614224 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Retinitis Pigmentosa 33 |
|
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... |
OMIM:610359 |
| Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
| Ichthyosis Hystrix, Curth-Macklin Type |
|
Scaling skin, Hyperkeratotic papule, Palmoplantar keratoderma, Fragile skin |
OMIM:146590 |
| Peeling Skin Syndrome 4 |
|
Scaling skin, Nail dystrophy, Ichthyosis, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:607936 |
| Ichthyosis Prematurity Syndrome |
|
Alopecia of scalp, Polyhydramnios, Generalized ichthyosis, Erythroderma, Dermatographic urticaria... |
OMIM:608649 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Plantar hyperkeratosis, Nail dystrophy, Pruritus, Alopecia |
OMIM:616487 |
| Focal Palmoplantar And Gingival Keratoderma |
|
Abnormality of the nail, Gingival hyperkeratosis, Focal friction-related palmoplantar hyperkerato... |
ORPHA:2200 |
| Familial Reactive Perforating Collagenosis |
|
Maculopapular exanthema, Perifolliculitis, Inflammatory abnormality of the skin, Hyperkeratotic p... |
ORPHA:79147 |
| Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly eyelashes, Brittle hair, Abnormality of the nail, Hyperkeratosis, Curly hair, Sparse eyelas... |
OMIM:602400 |
| Monilethrix |
|
Nail dysplasia, Perifollicular hyperkeratosis, Nail dystrophy, Brittle hair, Abnormality of hair ... |
OMIM:158000 |
| Verrucous Hemangioma |
|
Hyperkeratotic papule, Inflammatory abnormality of the skin |
ORPHA:464318 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis, Erythema |
OMIM:617525 |
| Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Premature skin wrinkling, Telangiectasia |
ORPHA:101028 |
| Retinitis Pigmentosa 50 |
|
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... |
OMIM:613194 |
| Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal atrophy, Chorioretinal dystrophy |
OMIM:600790 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus, Abnormal hair m... |
OMIM:618531 |
| Peeling Skin Syndrome 6 |
|
Scaling skin, Parakeratosis, Dry skin, Atopic dermatitis, Orthokeratosis, Pruritus |
OMIM:618084 |
| Chilblain Lupus |
|
Skin ulcer, Malar rash, Skin rash, Discoid lupus rash, Hyperkeratosis, Cutis marmorata, Inflammat... |
ORPHA:90280 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Ectodermal dysplasia, Congenital bullous ichthyosiform erythroderma, Sparse hair, Palmoplantar ke... |
OMIM:613576 |
| Olmsted Syndrome, X-Linked |
|
Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hyperkeratosis, Palmoplantar h... |
OMIM:300918 |
| Retinitis Pigmentosa 70 |
|
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... |
OMIM:615922 |
| Olmsted Syndrome 1 |
|
Nail dysplasia, Nail dystrophy, Parakeratosis, Periorificial hyperkeratosis, Hyperparakeratosis, ... |
OMIM:614594 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Nail dysplasia, Nail dystrophy, Parakeratosis, Ichthyosis, Congenital ichthyosiform erythroderma,... |
OMIM:242300 |
| Epidermolytic Palmoplantar Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Abnormal fingernail morphology, Palmoplantar hyperkeratosis,... |
ORPHA:2199 |
| Birdshot Chorioretinopathy |
|
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... |
ORPHA:179 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Scaling skin, Parakeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Hyperkeratosis, Dr... |
OMIM:612281 |
| Cutis Laxa, Autosomal Dominant 2 |
|
Cutis laxa, Premature skin wrinkling |
OMIM:614434 |
| Bathing Suit Ichthyosis |
|
Scaling skin, Nail dystrophy, Parakeratosis, Ichthyosis, Thickened skin, Congenital nonbullous ic... |
ORPHA:100976 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Ichthyosis, Hyperkeratosis, Hypergranulosis, Orthokeratosis, Erythema |
OMIM:613943 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Nail dysplasia, Nail dystrophy, Cutaneous photosensitivity, Skin fragility with non-scarring blis... |
ORPHA:79397 |
| Harlequin Ichthyosis |
|
Ichthyosis, Congenital ichthyosiform erythroderma, Hyperkeratosis, Dehydration, Erythroderma |
ORPHA:457 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Retinitis Pigmentosa 32 |
|
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... |
OMIM:609913 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Nail dystrophy, Yellow nails, Onycholysis, Orthokeratotic hyperkeratosis, Streaks of hyperkeratos... |
OMIM:148700 |
| Darier Disease |
|
Abnormal hair morphology, Abnormality of the nail, Thickened skin, Acrokeratosis, Palmoplantar ke... |
ORPHA:218 |
| Ichthyosis, Annular Epidermolytic, 2 |
|
Scaling skin, Ichthyosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, ... |
OMIM:620148 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Acne inversa, Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess formation, Foll... |
OMIM:613736 |
| Cole Disease |
|
Abnormal hair morphology, Abnormality of the nail, Hyperkeratosis, Hyperkeratotic papule, Palmopl... |
OMIM:615522 |
| Peeling Skin Syndrome 5 |
|
Scaling skin, Hyperkeratosis |
OMIM:617115 |
| Lymphatic Malformation 12 |
|
Polyhydramnios, Hyperkeratosis, Lymphedema, Death in adolescence, Neonatal death, Nonimmune hydro... |
OMIM:620014 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Scaling skin, Leukonychia, Hyperkeratosis, Dry skin, Fragile skin, Onycholysis, Punctate palmopla... |
OMIM:616295 |
| Central Diabetes Insipidus |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:178029 |
| Psoriasis 2 |
|
Scaling skin, Psoriasiform dermatitis, Parakeratosis, Hyperkeratosis |
OMIM:602723 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Nail dystrophy, Thin nail, Absent eyelashes, Hyperkeratosis, Absent eyebrow, Sparse hair |
OMIM:618625 |
| Alg8-Cdg |
|
Hydrops fetalis, Premature skin wrinkling, Ascites, Cutis laxa, Failure to thrive, Edema, Oligohy... |
ORPHA:79325 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Dehydration |
ORPHA:28 |
| Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... |
OMIM:600059 |
| Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Erythema, Pruritus, Follicular hyperkeratosis |
ORPHA:79100 |
| Lichen Planopilaris |
|
Skin ulcer, Hyperkeratosis, Onycholysis, Abnormal fingernail morphology, Pruritus, Alopecia |
ORPHA:525 |
| 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 |
| Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Dehydration, Small for gestational age |
ORPHA:99886 |
| White Sponge Nevus 2 |
|
Edema, Hyperparakeratosis |
OMIM:615785 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Dehydration, Weight loss |
ORPHA:103910 |
| Familial Cold Urticaria |
|
Urticaria, Dehydration, Erythema, Pruritus |
ORPHA:47045 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Thickened skin, Hyperkeratosis, Patchy alopecia |
OMIM:247100 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Leukonychia, Sparse scalp hair, Sparse eyelashes, Sparse body hair, Sparse eyebrow, Sparse axilla... |
OMIM:613102 |
| Lichen Planus Pemphigoides |
|
Abnormality of the nail, Skin vesicle, Hyperkeratosis, Pruritus |
ORPHA:254478 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Generalized hyperkeratosis |
OMIM:133200 |
| Pityriasis Rubra Pilaris |
|
Ichthyosis, Palmoplantar keratoderma, Abnormality of the nail, Eczematoid dermatitis, Thickened s... |
ORPHA:2897 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Palmoplantar scaling skin, Nail dystrophy, Palmoplantar keratoderma, Death in early adulthood, De... |
OMIM:605676 |
| Acrokeratosis Verruciformis |
|
Ridged nail, Hyperkeratosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis |
OMIM:101900 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Failure to thrive, Premature skin wrinkling |
OMIM:617950 |
| Keratoderma Hereditarium Mutilans |
|
Ichthyosis, Abnormality of the nail, Hyperkeratosis, Abnormal toenail morphology, Honeycomb palmo... |
ORPHA:494 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans, Skin ulcer, Pruritus |
ORPHA:409 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Dehydration, Weight loss |
OMIM:143880 |
| Acrokeratosis Verruciformis Of Hopf |
|
Leukonychia, Nail dystrophy, Hyperkeratosis, Anonychia, Punctate palmoplantar hyperkeratosis, Hyp... |
ORPHA:79151 |
| Irvan Syndrome |
|
Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm... |
ORPHA:209943 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Dystrophic fingernails, Nail dystrophy, Facial erythema, Scarring alopecia of scalp, Folliculitis... |
OMIM:308800 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
| Retinal Dystrophy And Obesity |
|
Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa... |
OMIM:616188 |
| Craniofaciofrontodigital Syndrome |
|
Large for gestational age, Polyhydramnios, Premature skin wrinkling, Thick hair, Congenital, gene... |
ORPHA:363705 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Nail dysplasia, Absent eyelashes, Sparse scalp hair, Absent eyebrow, Abnormal fingernail morpholo... |
ORPHA:1809 |
| Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis, Dry skin |
ORPHA:461 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration |
OMIM:193230 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Thin nail, Abnormal hair morphology, Small nail, Congenital ichthyosiform erythroderma, Hyperkera... |
OMIM:242100 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Palmoplantar keratoderma, Ascites, Weight loss |
ORPHA:2198 |
| Acquired Hypertrichosis Lanuginosa |
|
Ichthyosis, Acanthosis nigricans, Hypopigmentation of hair, Thickened skin, Abnormal eyebrow morp... |
ORPHA:2221 |
| Pityriasis Rubra Pilaris |
|
Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis, Orthokeratosis |
OMIM:173200 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Ichthyosis, Hyperkeratosis, Dry skin, Death in infancy, Sparse eyelashes, Failure to thrive, Spar... |
OMIM:610768 |
| Porokeratosis 3, Multiple Types |
|
Nail dystrophy, Porokeratosis, Parakeratosis |
OMIM:175900 |
| Acrogeria |
|
Skin ulcer, Excessive wrinkled skin, Prematurely aged appearance, Telangiectasia of the skin, Fin... |
ORPHA:2500 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Hyperkeratosis, Hidrotic ectodermal dysplasia, Sparse hair, Coarse hair |
ORPHA:1883 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Palmoplantar keratoderma, White scaling skin, Congenital nonbullous ichthyosiform ... |
OMIM:604777 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Brittle hair, Hyperkeratosis, Sparse scalp hair, Fine hair, Pili torti |
ORPHA:1573 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Hyperkeratosis, Nail dystrophy, Abnormal toenail morphology, Pruritus |
ORPHA:89843 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Erythroderma, Hyperkeratosis |
OMIM:136630 |
| Combined Malonic And Methylmalonic Acidemia |
|
Failure to thrive, Dehydration |
ORPHA:289504 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Ramon Syndrome |
|
Failure to thrive, Hyperkeratosis, Generalized hirsutism, Telangiectasia of the skin |
ORPHA:3019 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Skin fragility with non-scarring blistering, Skin vesicle, Erythema migrans, Pruritus |
ORPHA:158681 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Hair-nail ectodermal dysplasia, Nail dystrophy, Brittle hair, Abnormal sweat gland morphology, Ab... |
OMIM:602032 |
| Progeroid Syndrome, Petty Type |
|
Brittle hair, Abnormality of the nail, Abnormal hair morphology, Redundant skin, Prematurely aged... |
ORPHA:2963 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Ichthyosis, Hyperkeratosis, Dry skin, Eczematoid dermatitis, Cutis laxa, Failure to thrive, Hyper... |
OMIM:612379 |
| Flynn-Aird Syndrome |
|
Hyperkeratosis, Alopecia of scalp, Alopecia |
OMIM:136300 |
| Trichothiodystrophy 1, Photosensitive |
|
Trichorrhexis nodosa, Nail dystrophy, Small nail, Brittle hair, Cutaneous photosensitivity, Hyper... |
OMIM:601675 |
| Trichodysplasia-Xeroderma Syndrome |
|
Trichorrhexis nodosa, Coarse hair, Brittle hair, Sparse scalp hair, Dry skin, Sparse body hair, S... |
ORPHA:3361 |
| Noonan Syndrome 8 |
|
Large for gestational age, Polyhydramnios, Hyperkeratosis, Pleural effusion, Eczematoid dermatiti... |
OMIM:615355 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Failure to thrive, Dehydration |
OMIM:618958 |
| Vulvovaginal Gingival Syndrome |
|
Parakeratosis, Erythema, Pruritus, Ridged nail |
ORPHA:83453 |
| Ichthyosis With Confetti |
|
Scaling skin, Ichthyosis, Hypoplastic nipples, Decreased body weight, Congenital nonbullous ichth... |
OMIM:609165 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Failure to thrive, Slender build, Small for gestational age, Progeroid facial appearance |
ORPHA:50811 |
| Meige Disease |
|
Edema of the dorsum of hands, Skin ulcer, Predominantly lower limb lymphedema, Lymphedema, Pleura... |
ORPHA:90186 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Distichiasis, Low anterior hairline, Sparse hair, Aged leonine appearance, Absent lower eyelashes |
OMIM:227260 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Death in childhood, Hirsutism, Dehydration, Failure to thrive, Small for gestational age |
OMIM:214150 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Slow-growing hair, Sparse scalp hair, Dry skin, Eczematoid dermatitis, Sparse eyelashes, Sparse b... |
OMIM:618535 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Failure to thrive, Dehydration |
OMIM:251120 |
| Odontoonychodermal Dysplasia |
|
Nail dysplasia, Dystrophic fingernails, Thin nail, Ridged nail, Erythema, Palmoplantar hyperkerat... |
OMIM:257980 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Polyhydramnios, Weight loss |
OMIM:620045 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... |
OMIM:305390 |
| Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Scaling skin, Death in childhood, Ichthyosis, Hyperkeratosis, Dry skin, Congenital nonbullous ich... |
OMIM:614457 |
| Familial Benign Chronic Pemphigus |
|
Skin vesicle, Hyperkeratosis, Acantholysis, Erythema |
ORPHA:2841 |
| Elastosis Perforans Serpiginosa |
|
Cutis laxa, Hyperkeratotic papule, Crusting erythematous dermatitis |
ORPHA:79148 |
| Nicolaides-Baraitser Syndrome |
|
Excessive wrinkled skin, Curly eyelashes, Highly arched eyebrow, Eczematoid dermatitis, Long eyel... |
ORPHA:3051 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Dehydration |
OMIM:602722 |
| Hyperchlorhidrosis, Isolated |
|
Failure to thrive, Hypernatremic dehydration |
OMIM:143860 |
| Cog7-Cdg |
|
Failure to thrive, Jaundice, Excessive wrinkled skin, Small for gestational age |
ORPHA:79333 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Jaundice, Ichthyosis, Dehydration, Death in infancy, Failure to thrive, Oligohydramnios, Small fo... |
OMIM:208085 |
| Idiopathic Trachyonychia |
|
Nail dystrophy, Ichthyosis, Toenail dysplasia, Thin nail, Ridged nail, Abnormality of the periung... |
ORPHA:79153 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Death in childhood, Dehydration, Death in adolescence |
OMIM:560000 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Trichorrhexis nodosa, Nail dystrophy, Scarring alopecia of scalp, Eczematoid dermatitis, Sparse l... |
OMIM:617337 |
| Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
| Sjögren-Larsson Syndrome |
|
Ichthyosis, Hyperkeratosis, Dry skin, Urticaria, Erythema |
ORPHA:816 |
| Microphthalmia, Syndromic 8 |
|
Premature skin wrinkling |
OMIM:601349 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Premature graying of hair, Abnormal hair morphology, Cachexia, Thickened skin, Reduced subcutaneo... |
ORPHA:1979 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... |
OMIM:614292 |
| Glucose/Galactose Malabsorption |
|
Failure to thrive, Hypertonic dehydration |
OMIM:606824 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Hypergranulosis, ... |
OMIM:615023 |
| Variegate Porphyria, Childhood-Onset |
|
Fragile skin, Epidermal hyperkeratosis, Atopic dermatitis, Cutaneous photosensitivity |
OMIM:620483 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Dehydration, Atopic dermatitis, Pustule, Weight loss, Failure to thrive in infancy |
ORPHA:171876 |
| Hypohidrotic Ectodermal Dysplasia |
|
Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnormal hair quantity, Slow-growi... |
ORPHA:238468 |
| Woolly Hair-Skin Fragility Syndrome |
|
Palmoplantar keratoderma, Acantholysis, Woolly hair, Fragile skin |
OMIM:620415 |
| Irida Syndrome |
|
Hyperkeratosis, Pallor, Ichthyosis |
ORPHA:209981 |
| Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Ichthyosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Palmoplantar kerato... |
OMIM:606545 |
| Exudative Vitreoretinopathy 1 |
|
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... |
OMIM:133780 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... |
OMIM:193235 |
| Prolidase Deficiency |
|
Skin ulcer, Erythema, Cutaneous photosensitivity, Hyperkeratosis, Hirsutism, Dry skin, White fore... |
ORPHA:742 |
| Superficial Epidermolytic Ichthyosis |
|
Palmoplantar keratoderma, Ichthyosis, Edema, Acantholysis, Erythema |
ORPHA:455 |
| Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
| Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
| Pachyonychia Congenita |
|
Palmar hyperkeratosis, Nail dystrophy, Palmoplantar keratoderma, Follicular hyperkeratosis, Onych... |
ORPHA:2309 |
| Aids Wasting Syndrome |
|
Cachexia, Weight loss |
ORPHA:90081 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Ichthyosis, Palmoplantar keratoderma, Acantholysis, Hypergranulosis, Failure to thrive, Sparse ha... |
OMIM:615508 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
| Pachyonychia Congenita 1 |
|
Nail dystrophy, Palmoplantar hyperkeratosis, Follicular hyperkeratosis, Onychogryposis |
OMIM:167200 |
| Milroy Disease |
|
Toenail dysplasia, Predominantly lower limb lymphedema, Hyperkeratosis, Lymphedema, Erysipelas, P... |
ORPHA:79452 |
| Dowling-Degos Disease |
|
Generalized abnormality of skin, Hyperkeratosis, Abnormal fingernail morphology, Skin vesicle, Hy... |
ORPHA:79145 |
| Pemphigus Vulgaris |
|
Alopecia of scalp, Urticaria, Weight loss, Recurrent cutaneous abscess formation, Acantholysis |
ORPHA:704 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Dehydration |
ORPHA:79312 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Telangiectasia of extensor surfaces, Palpebral edema, Absent eyelashes, Lymphedema, Sparse scalp ... |
OMIM:137940 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Hyperkeratosis, Dry skin, Onycholysis, Abnormal fingernail morphology, Hypoplastic toenails, Fine... |
ORPHA:1028 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Dehydration |
OMIM:610600 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Dehydration |
OMIM:203400 |
| Congenital Disorder Of Glycosylation, Type If |
|
Scaling skin, Hyperkeratosis, Dry skin, Death in infancy, Failure to thrive, Erythroderma |
OMIM:609180 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Parakeratosis, Jaundice, Ichthyosis, Thick hair, Dry skin, Sparse eyelashes, Sparse eyebrow, Spar... |
OMIM:607626 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Highly arched eyebrow, Prematurely aged appearance, Redundant skin, Distichiasis, Sparse lateral ... |
ORPHA:1807 |
| Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
| Congenital Short Bowel Syndrome |
|
Failure to thrive, Dehydration |
OMIM:615237 |
| Nicolaides-Baraitser Syndrome |
|
Ichthyosis, Excessive wrinkled skin, Premature skin wrinkling, Periorbital wrinkles, Sparse scalp... |
OMIM:601358 |
| Autosomal Agammaglobulinemia |
|
Failure to thrive, Skin rash, Dehydration, Recurrent skin infections |
ORPHA:33110 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Nail dystrophy, Small nail, Fragile skin, Abnormal fingernail morphology, Abnormal toenail morpho... |
ORPHA:79410 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis |
OMIM:148600 |
| Acral Peeling Skin Syndrome |
|
Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin, Eczematoid dermatitis, Erythema |
ORPHA:263534 |
| Myoclonic-Astatic Epilepsy |
|
Frontal balding, Premature skin wrinkling |
ORPHA:1942 |
| Costello Syndrome |
|
Polyhydramnios, Acanthosis nigricans, Abnormal hair morphology, Redundant skin, Hyperkeratosis, W... |
ORPHA:3071 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Failure to thrive, Dehydration |
OMIM:264350 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Premature graying of hair, Alopecia of scalp, Prematurely aged appearance, Abnormal hair quantity... |
ORPHA:2617 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Failure to thrive, Slender build, Sparse axillary hair, Sparse facial hair, Small for gestational... |
OMIM:608154 |
| Bullous Pemphigoid |
|
Eczematoid dermatitis, Urticaria, Pruritus, Weight loss, Psoriasiform dermatitis, Erythema |
ORPHA:703 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:35710 |
| Geroderma Osteodysplasticum |
|
Premature skin wrinkling, Abnormal hair morphology, Cutis laxa, Neonatal wrinkled skin of hands a... |
OMIM:231070 |
| Cardiofaciocutaneous Syndrome |
|
Dystrophic fingernails, Ichthyosis, Excessive wrinkled skin, Sparse or absent eyelashes, Brittle ... |
ORPHA:1340 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis, Lymphedema, Telangiectasia of the skin, Telangiectasia |
ORPHA:79279 |
| Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
| Insulin Autoimmune Syndrome |
|
Acanthosis nigricans, Weight loss |
ORPHA:411593 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Failure to thrive, Dehydration |
OMIM:177735 |
| Chromomycosis |
|
Hyperparakeratosis, Vascular skin abnormality, Predominantly lower limb lymphedema, Hyperkeratosi... |
ORPHA:182 |
| Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion, Cutaneous photosensitivity, Malar rash, Discoid lupus rash, Hyperkeratosis, ... |
ORPHA:163525 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Scaling skin, Parakeratosis, Psoriasiform lesion, Superficial dermal perivascular inflammatory in... |
ORPHA:284426 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Periorbital wrinkles, Absent eyelashes, Hypoplastic nipples, Ectodermal dysplasia, Sparse scalp h... |
OMIM:614941 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis, Hyperkeratosis |
OMIM:610227 |
| Naxos Disease |
|
Nail dystrophy, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Woolly hair, Curly hair, Fra... |
OMIM:601214 |
| Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Palmoplantar keratoderma, Leukonychia, Hyperkeratotic papule, Palmoplantar hyperkeratosis |
ORPHA:2698 |
| Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Dehydration |
OMIM:212140 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Ataxia-Telangiectasia |
|
Premature graying of hair, Hypopigmentation of hair, Prematurely aged appearance, Failure to thri... |
ORPHA:100 |
| Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Congenital ichthyosiform erythroderma, Failure to thrive, Neonatal death, Death in infancy |
OMIM:242500 |
| Leopard Syndrome 3 |
|
Hyperkeratosis, Dry skin, Low posterior hairline, Curly hair, Epidermal hyperkeratosis |
OMIM:613707 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Premature graying of hair, Premature skin wrinkling, Absent eyelashes, Absent eyebrow, Sparse hai... |
ORPHA:363618 |
| Cog5-Cdg |
|
Oligohydramnios, Premature skin wrinkling, Abnormality of the frontal hairline |
ORPHA:263487 |
| Hereditary Mucoepithelial Dysplasia |
|
Hyperkeratosis, Fine hair, Sparse hair, Alopecia |
ORPHA:1839 |
| Lipoid Proteinosis |
|
Alopecia of scalp, Hyperkeratosis, Thickened skin, Pustule, Acne |
ORPHA:530 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Ichthyosis, Acanthosis nigricans, Hyperkeratosis, Dry skin, Xerostomia |
OMIM:618527 |
| Follicular Lymphoma |
|
Lymphedema, Pleural effusion, Weight loss |
ORPHA:545 |
| Chronic Mucocutaneous Candidiasis |
|
Skin ulcer, Erythema, Abnormality of the nail, Skin rash, Hyperkeratosis, Broad nail, Abnormal fi... |
ORPHA:1334 |
| Osteootohepatoenteric Syndrome |
|
Dehydration, Failure to thrive, Prolonged neonatal jaundice, Weight loss, Pruritus |
OMIM:619377 |
| Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Dehydration |
ORPHA:556030 |
| Propionic Acidemia |
|
Failure to thrive, Dehydration, Eczematoid dermatitis |
OMIM:606054 |
| Fontaine Progeroid Syndrome |
|
Small nail, Redundant skin, Low posterior hairline, Death in infancy, Oligohydramnios, Failure to... |
OMIM:612289 |
| Acute Myelomonocytic Leukemia |
|
Pallor, Weight loss |
ORPHA:517 |
| Short Syndrome |
|
Reduced subcutaneous adipose tissue, Premature skin wrinkling, Small for gestational age, Promine... |
OMIM:269880 |
| Acrokeratoelastoidosis Of Costa |
|
Hypergranulosis, Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis |
ORPHA:38 |
| Acrodermatitis Enteropathica |
|
Generalized abnormality of skin, Skin ulcer, Ridged nail, Abnormality of the nail, Dry skin, Fail... |
ORPHA:37 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Follicular hyperkeratosis |
OMIM:615147 |
| Cardiofaciocutaneous Syndrome 3 |
|
Failure to thrive, Hyperkeratosis, Curly hair |
OMIM:615279 |
| Eosinophilic Fasciitis |
|
Edema, Muscular edema, Weight loss, Acrocyanosis |
ORPHA:3165 |
| Galactose Epimerase Deficiency |
|
Jaundice, Weight loss |
ORPHA:79238 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
| Tylosis With Esophageal Cancer |
|
Parakeratosis, Follicular hyperkeratosis, Diffuse palmoplantar hyperkeratosis |
OMIM:148500 |
| Cronkhite-Canada Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Dystrophic fingernails, Cachexia, Lymphedema, Dystrophic toena... |
ORPHA:2930 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Pruritus, Weight loss |
ORPHA:86893 |
| Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
| Werner Syndrome |
|
Premature graying of hair, Skin ulcer, Prematurely aged appearance, Miscarriage, Hyperkeratosis, ... |
ORPHA:902 |
| Secondary Short Bowel Syndrome |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:95427 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Bruising susceptibility, Follicular hyperkeratosis |
ORPHA:300179 |
| Beta-Ketothiolase Deficiency |
|
Edema, Pallor, Dehydration, Weight loss |
ORPHA:134 |
| Hoyeraal-Hreidarsson Syndrome |
|
Premature graying of hair, Nail dystrophy, Excessive wrinkled skin, Sparse scalp hair, Failure to... |
ORPHA:3322 |
| Congenital Tufting Enteropathy |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:92050 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Excessive wrinkled skin, Brittle hair, Abnormality of hair texture, Redundant skin, Cutis laxa, F... |
OMIM:219200 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
| Poikiloderma With Neutropenia |
|
Nail dystrophy, Palmoplantar keratoderma, Skin rash, Hyperkeratosis, Low posterior hairline, Spar... |
OMIM:604173 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Cutis laxa, Dermal translucency, Premature skin wrinkling |
OMIM:616603 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Palmoplantar keratoderma, Nail dystrophy, Hyperkeratosis, Anonychia |
OMIM:616029 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Cutaneous photosensitivity, Tiger tail banding, Sparse eyebrow, ... |
OMIM:300953 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:27 |
| Exudative Vitreoretinopathy 6 |
|
Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,... |
OMIM:616468 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Nail dystrophy, Parakeratosis, Ectodermal dysplasia, Palmoplantar keratoderma, Follicular hyperke... |
OMIM:615225 |
| Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Psoriasis 14, Pustular |
|
Nail dystrophy, Parakeratosis, Pustule, Psoriasiform dermatitis, Erythema |
OMIM:614204 |
| Incontinentia Pigmenti |
|
Nail dysplasia, Breast hypoplasia, Nail dystrophy, Coarse hair, Erythema, Ridged nail, Breast apl... |
OMIM:308300 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Decreased adipose tissue around neck, Acanthosis nigricans, Pleural effusion, Sparse scalp hair, ... |
OMIM:606721 |
| Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Failure to thrive, Hyperkeratosis, Death in childhood |
OMIM:301108 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Failure to thrive, Dehydration |
OMIM:615453 |
| Cystinosis |
|
Failure to thrive, Dehydration |
ORPHA:213 |
| Adrenal Hypoplasia, Congenital |
|
Failure to thrive, Dehydration |
OMIM:300200 |
| Barber-Say Syndrome |
|
Premature skin wrinkling, Redundant skin, Hypoplastic nipples, Absent nipple, Dry skin, Sparse ey... |
OMIM:209885 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Abnormal subcutaneous fat tissue distribution, Redundant neck skin, Excessive wrinkled skin, Thic... |
ORPHA:357074 |
| Gaucher Disease, Perinatal Lethal |
|
Purpura, Polyhydramnios, Ichthyosis, Petechiae, Hyperkeratosis, Decreased body weight, Ascites, N... |
OMIM:608013 |
| Coats Disease |
|
Retinal telangiectasia, Exudative retinal detachment |
OMIM:300216 |
| Pachyonychia Congenita 2 |
|
Nail dysplasia, Nail dystrophy, Palmoplantar hyperkeratosis, Sparse scalp hair, Folliculitis, Spa... |
OMIM:167210 |
| Wolcott-Rallison Syndrome |
|
Jaundice, Decreased body weight, Ascites, Dehydration |
ORPHA:1667 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Poor wound healing, Skin ulcer, Penetrating foot ulcers |
ORPHA:36386 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Nail dysplasia, Trichiasis, Nail dystrophy, Ichthyosis, Absent pubic hair, Hyperkeratosis, Recurr... |
OMIM:148210 |
| Acquired Partial Lipodystrophy |
|
Generalized hirsutism, Progeroid facial appearance |
ORPHA:79087 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Scaling skin, Nail dystrophy, Fragile skin, Failure to thrive, Pruritus, Sparse hair, Palmoplanta... |
ORPHA:158668 |
| Pachyonychia Congenita 3 |
|
Nail dystrophy, Palmoplantar keratoderma, Onychogryposis of toenails, Plantar hyperkeratosis, Pal... |
OMIM:615726 |
| Stuve-Wiedemann Syndrome 1 |
|
Oligohydramnios, Premature skin wrinkling, Sparse hair, Death in infancy |
OMIM:601559 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Skin ulcer, Hyperkeratosis, Abnormal fingernail morphology, Sparse hair, Fine hair |
ORPHA:1806 |
| Thanatophoric Dysplasia Type 1 |
|
Polyhydramnios, Excessive wrinkled skin, Acanthosis nigricans, Redundant skin, Increased nuchal t... |
ORPHA:1860 |
| Proteus Syndrome |
|
Hyperkeratosis |
OMIM:176920 |
| Malignant Peritoneal Mesothelioma |
|
Pedal edema, Ascites, Weight loss |
ORPHA:168811 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Dehydration |
OMIM:251000 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Failure to thrive, Polyhydramnios, Dehydration |
OMIM:214700 |
| Microvillus Inclusion Disease |
|
Dehydration, Pruritus |
ORPHA:2290 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hyperkeratosis, Peau d'orange, Dry skin, Death in infancy, Failure to thrive |
OMIM:614576 |
| Pseudomyxoma Peritonei |
|
Ascites, Weight loss |
ORPHA:26790 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Absent fingernail, Neonatal death, Anonychia, Alopecia totalis, Alopecia universalis, Acantholysis |
OMIM:609638 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Broad eyebrow, Hyperkeratosis, Cutis marmorata, Failure to thrive in infancy, Frontal upsweep of ... |
OMIM:301220 |
| Thymic Carcinoma |
|
Edema, Palpebral edema, Weight loss |
ORPHA:99868 |
| Short Syndrome |
|
Alopecia, Excessive wrinkled skin, Weight loss, Sparse hair |
ORPHA:3163 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Overweight, Dry skin, Follicular hyperkeratosis |
ORPHA:486815 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Jaundice, Dehydration, Weight loss, Edema, Pallor |
ORPHA:20 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Neonatal Lupus Erythematosus |
|
Parakeratosis, Cutaneous photosensitivity, Malar rash, Skin rash, Hyperkeratosis, Maculopapular e... |
ORPHA:398124 |
| Kid Syndrome |
|
Scaling skin, Trichilemmoma, Nail dystrophy, Progeroid facial appearance, Palmoplantar keratoderm... |
ORPHA:477 |
| Xfe Progeroid Syndrome |
|
Cutaneous photosensitivity, Prematurely aged appearance, Cachexia, Ascites, Dry skin, Death in ad... |
OMIM:610965 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Failure to thrive, Weight loss |
OMIM:612075 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Cachexia, Slender build, Weight loss |
OMIM:613662 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
| Pleural Mesothelioma |
|
Pleural effusion, Weight loss |
ORPHA:50251 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Excessive wrinkled skin, Redundant skin, Failure to thrive, Lack of skin elasticity, Bruising sus... |
OMIM:612940 |
| Pearson Marrow-Pancreas Syndrome |
|
Hydrops fetalis, Death in childhood, Dehydration, Failure to thrive, Pallor, Small for gestationa... |
OMIM:557000 |
| Poems Syndrome |
|
Leukonychia, Pleural effusion, Ascites, Thickened skin, Pericardial effusion, Weight loss, Acrocy... |
ORPHA:2905 |
| Familial Keratoacanthoma |
|
Hyperkeratosis, Skin ulcer |
ORPHA:493 |
| Arthrogryposis Multiplex Congenita 5 |
|
Polyhydramnios, Premature skin wrinkling, Death in infancy |
OMIM:618947 |
| Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Hypertonic dehydration |
OMIM:125800 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Death in childhood, Dehydration |
OMIM:246450 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Hypertonic dehydration |
OMIM:304800 |
| Keppen-Lubinsky Syndrome |
|
Failure to thrive, Polyhydramnios, Premature skin wrinkling, Progeroid facial appearance |
ORPHA:435628 |
| Fg Syndrome Type 1 |
|
Frontal upsweep of hair, Slender build, Facial wrinkling |
ORPHA:93932 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Prematurely aged appearance, Abnormal toenail morphology, Low posterior hairline |
ORPHA:1387 |
| Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis, Sparse scalp hair |
ORPHA:2611 |
| Cholera |
|
Miscarriage, Palmoplantar cutis laxa, Dehydration |
ORPHA:173 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Jaundice, Acanthosis nigricans, Ichthyosis, Scarring alopecia of scalp, Sparse scalp hair, Sparse... |
ORPHA:59303 |
| Acute Radiation Syndrome |
|
Scaling skin, Skin ulcer, Hyperkeratosis, Inflammatory abnormality of the skin, Telangiectasia |
ORPHA:454831 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Skin rash, Hyperkeratosis, Pustule, Joint swelling, Failure to thrive in infancy |
OMIM:612852 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Excessive wrinkled skin, Cutis laxa, Sparse hair, Fine hair, Dermal translucency, Prominent super... |
OMIM:614438 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Angiokeratoma corporis diffusum, Telangiectasia of the oral mucosa, Lip telangiectasia, Hyperkera... |
ORPHA:79280 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| X-Linked Agammaglobulinemia |
|
Skin ulcer, Skin rash, Failure to thrive, Weight loss, Recurrent cutaneous abscess formation, Alo... |
ORPHA:47 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Skin rash, Palmoplantar pustulosis, Weight loss, Acne, Edema, Psoriasiform dermatitis, Pruritus |
ORPHA:324964 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:281090 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Oligohydramnios, Dehydration |
OMIM:263200 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Failure to thrive, Hirsutism, Dehydration |
ORPHA:90791 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Nail dysplasia, Scaling skin, Nail dystrophy, Ichthyosis follicularis, Periungual erythema, Death... |
OMIM:308205 |
| Donohue Syndrome |
|
Nail dysplasia, Severe failure to thrive, Acanthosis nigricans, Hyperkeratosis, Hypertrichosis |
OMIM:246200 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Excessive wrinkled skin, Thick hair, Progeroid facial appearance |
ORPHA:357058 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Perioral eczema, Weight loss, Eczematoid dermatitis |
ORPHA:79242 |
| Renal Hypoplasia |
|
Dehydration, Small for gestational age |
ORPHA:93101 |
| Nodular Non-Suppurative Panniculitis |
|
Edema, Erythema, Weight loss |
ORPHA:33577 |
| Wilson Disease |
|
Jaundice, Increased body weight, Failure to thrive, Weight loss, Joint swelling, Bruising suscept... |
ORPHA:905 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bruising susceptibility, Pallor, Lymphedema, Weight loss |
ORPHA:3226 |
| Werner Syndrome |
|
Progeroid facial appearance, Alopecia of scalp, Prematurely aged appearance, Subcutaneous calcifi... |
OMIM:277700 |
| Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Dehydration |
OMIM:251110 |
| Campomelia, Cumming Type |
|
Hydrops fetalis, Prematurely aged appearance, Lymphedema, Death in infancy, Oligohydramnios |
ORPHA:1318 |
| Lysosomal Acid Lipase Deficiency |
|
Jaundice, Cachexia, Dehydration, Ascites, Failure to thrive, Weight loss, Pruritus |
ORPHA:275761 |
| Darier-White Disease |
|
Ridged nail, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratotic fragments |
OMIM:124200 |
| Alternating Hemiplegia Of Childhood |
|
Dehydration, Failure to thrive, Thin eyebrow, Pallor, Flushing |
ORPHA:2131 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Pruritus, Weight loss |
ORPHA:65682 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Generalized abnormality of skin, Pleural effusion, Weight loss |
ORPHA:2902 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Majeed Syndrome |
|
Cachexia, Failure to thrive, Pustule, Inflammatory abnormality of the skin, Weight loss, Acne, Edema |
ORPHA:77297 |
| Oculocutaneous Albinism Type 1A |
|
Thickened skin, Hyperkeratosis, Albinism, Hypopigmentation of hair |
ORPHA:79431 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Large for gestational age, Polyhydramnios, Loose anagen hair, Ichthyosis, Hyperkeratosis, Sparse ... |
OMIM:607721 |
| Methylmalonic Aciduria, Cbla Type |
|
Failure to thrive, Dehydration |
OMIM:251100 |
| Premature Aging Syndrome, Penttinen Type |
|
Prematurely aged appearance, Corneal stromal edema, Hyperkeratosis, Thickened skin, Failure to th... |
OMIM:601812 |
| Wiedemann-Rautenstrauch Syndrome |
|
Alopecia of scalp, Broad eyebrow, Premature skin wrinkling, Small nail, Prematurely aged appearan... |
OMIM:264090 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Death in infancy |
ORPHA:157973 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Nail dystrophy, Pyoderma, Abnormality of the nail, Dehydration, Fragile skin, Failure to thrive, ... |
ORPHA:79404 |
| Pseudoxanthoma Elasticum |
|
Excessive wrinkled skin, Skin rash, Telangiectasia of the skin, Lack of skin elasticity, Acne, Br... |
ORPHA:758 |
| Polyarteritis Nodosa |
|
Cutis marmorata, Erythema, Weight loss, Skin ulcer |
ORPHA:767 |
| Fucosidosis |
|
Generalized hyperkeratosis, Vascular skin abnormality, Abnormality of the nail, Failure to thrive... |
ORPHA:349 |
| Osteosarcoma |
|
Joint swelling, Weight loss |
ORPHA:668 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Ichthyosis, Hyperkeratosis, Abnormal toenail morphology, Sparse hair, Alopecia |
ORPHA:1005 |
| Vipoma |
|
Dehydration, Ascites, Intermittent jaundice, Weight loss, Subcutaneous lipoma, Erythema |
ORPHA:97282 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal fingernail morphology, Weight loss |
ORPHA:1164 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Dehydration |
OMIM:616271 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Jaundice, Excessive wrinkled skin, Death in infancy, Failure to thrive, Low anterior hairline, Hy... |
OMIM:608779 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cutaneous photosensitivity, Prematurely aged appearance, Cachexia, Skin rash, Dry skin, Urticaria |
ORPHA:220295 |
| Cockayne Syndrome |
|
Premature skin wrinkling, Cutaneous photosensitivity, Malar rash, Cachexia, Reduced subcutaneous ... |
ORPHA:191 |
| Shigellosis |
|
Failure to thrive in infancy, Purpura, Dehydration, Urticaria |
ORPHA:810 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Nail dysplasia, Trichiasis, Hyperkeratosis, Ectodermal dysplasia, Dry skin, Absent eyebrow, Trich... |
OMIM:601701 |
| Juvenile Dermatomyositis |
|
Palpebral edema, Skin ulcer, Erythema, Cutaneous photosensitivity, Skin rash, Dry skin, Telangiec... |
ORPHA:93672 |
| Eosinophilic Gastroenteritis |
|
Edema, Atopic dermatitis, Ascites, Weight loss |
ORPHA:2070 |
| Classic Hodgkin Lymphoma |
|
Skin rash, Pruritus, Weight loss |
ORPHA:391 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Palmoplantar hyperkeratosis, Dry skin, Follicular hyperkeratosis |
OMIM:617388 |
| Hutchinson-Gilford Progeria Syndrome |
|
Generalized abnormality of skin, Dystrophic fingernails, Severe failure to thrive, Loss of eyelas... |
ORPHA:740 |
| Aggressive Systemic Mastocytosis |
|
Ascites, Urticaria, Pruritus, Weight loss, Flushing, Maculopapular exanthema |
ORPHA:98850 |
| Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion |
OMIM:616298 |
| Kaposi Sarcoma |
|
Skin rash, Lymphedema, Weight loss |
ORPHA:33276 |
| 19Q13.11 Microdeletion Syndrome |
|
Nail dysplasia, Sparse or absent eyelashes, Cachexia, Dry skin, Sparse lateral eyebrow, Failure t... |
ORPHA:217346 |
| Kanzaki Disease |
|
Angiokeratoma corporis diffusum, Telangiectasia of the oral mucosa, Lip telangiectasia, Petechiae... |
OMIM:609242 |
| Flynn-Aird Syndrome |
|
Cachexia, Skin ulcer, Alopecia |
ORPHA:2047 |
| Ogden Syndrome |
|
Pulmonary edema, Redundant neck skin, Jaundice, Prematurely aged appearance, Redundant skin, Lymp... |
OMIM:300855 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion, Weight loss |
ORPHA:411703 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Opitz-Kaveggia Syndrome |
|
Frontal upsweep of hair, Fine hair, Facial wrinkling, Sparse hair |
OMIM:305450 |
| Dend Syndrome |
|
Dehydration |
ORPHA:79134 |
| Ramon Syndrome |
|
Hyperkeratosis, Decreased body weight, Angiokeratoma, Hypertrichosis, Telangiectasia |
OMIM:266270 |
| Wiedemann-Rautenstrauch Syndrome |
|
Acanthosis nigricans, Premature skin wrinkling, Hirsutism, Sparse scalp hair, Synophrys, Prominen... |
ORPHA:3455 |
| Incontinentia Pigmenti |
|
Skin ulcer, Hypoplastic fingernail, Abnormal hair morphology, Abnormality of the nail, Skin rash,... |
ORPHA:464 |
| Ablepharon-Macrostomia Syndrome |
|
Hypoplastic fingernail, Premature skin wrinkling, Absent eyelashes, Hypoplastic nipples, Redundan... |
OMIM:200110 |
| Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Periorbital wrinkles, Sparse eyelashes, Sparse eyebrow, Sparse hair, Hypohidrotic ectodermal dysp... |
OMIM:224900 |
| Laron Syndrome |
|
Prematurely aged appearance, Truncal obesity |
ORPHA:633 |
| De Barsy Syndrome |
|
Excessive wrinkled skin, Prominent veins on trunk, Cutis laxa, Failure to thrive, Sparse hair, De... |
ORPHA:2962 |
| Mucoepithelial Dysplasia, Hereditary |
|
Nail dysplasia, Nail dystrophy, Follicular hyperkeratosis, Chronic monilial nail infection, Chron... |
OMIM:158310 |
| Reactive Arthritis |
|
Dystrophic fingernails, Abnormality of the nail, Hyperkeratosis, Pustule, Weight loss, Joint swel... |
ORPHA:29207 |
| Tyrosinemia Type 2 |
|
Abnormality of the nail, Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:28378 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse lateral eyebrow, Fine hair, Epidermal hyperkeratosis, Sparse hair |
OMIM:190351 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:99885 |
| Desmoplastic Small Round Cell Tumor |
|
Cachexia, Ascites, Weight loss |
ORPHA:83469 |
| Colchicine Poisoning |
|
Dehydration, Alopecia |
ORPHA:31824 |
| Yao Syndrome |
|
Xerostomia, Skin rash, Inflammatory abnormality of the skin, Weight loss |
OMIM:617321 |
| Oligomeganephronia |
|
Dehydration, Small for gestational age |
ORPHA:2260 |
| Noonan Syndrome 10 |
|
Hyperkeratosis, Pleural effusion, Curly hair, Increased nuchal translucency, Sparse eyebrow, Palm... |
OMIM:616564 |
| Christianson Syndrome |
|
Cachexia, Thick eyebrow, Death in early adulthood |
ORPHA:85278 |
| Cardiofaciocutaneous Syndrome 1 |
|
Polyhydramnios, Ichthyosis, Slow-growing hair, Absent eyelashes, Hyperkeratosis, Atopic dermatiti... |
OMIM:115150 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Cutis laxa, Sparse eyebrow, Progeroid facial appearance |
ORPHA:75496 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Stillbirth, Parakeratosis, Small nail, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ort... |
OMIM:308050 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Angioedema, Pustule, Weight loss, Erythroderma, Erythema |
ORPHA:139402 |
| Trichothiodystrophy |
|
Alopecia of scalp, Dystrophic fingernails, Ichthyosis, Ridged nail, Brittle hair, Cutaneous photo... |
ORPHA:33364 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Prematurely aged appearance, Redundant skin, Low posterior hairline, Thin eyebrow, Bruising susce... |
OMIM:618000 |
| Sialidosis Type 1 |
|
Hyperkeratosis, Vascular skin abnormality |
ORPHA:812 |
| Renpenning Syndrome |
|
Cachexia, Abnormal hairshaft morphology, Thin eyebrow, Alopecia |
ORPHA:3242 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Prematurely aged appearance, Alopecia, Low posterior hairline, Lack of facial subcutaneous fat, S... |
ORPHA:2959 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Brittle hair, Periorbital wrinkles, Absent eyelashes, Hypoplastic nipples, Absent nipple, Dry ski... |
OMIM:305100 |
| Spinocerebellar Ataxia 34 |
|
Erythroderma, Epidermal hyperkeratosis |
OMIM:133190 |
| Leishmaniasis |
|
Pallor, Skin ulcer, Weight loss |
ORPHA:507 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Polyhydramnios, Neonatal death |
OMIM:618186 |
| Mcdonough Syndrome |
|
Cachexia, Synophrys |
ORPHA:2471 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis, Death in infancy |
ORPHA:163966 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Breast aplasia, Prematurely aged appearance, Alopecia, Absent eyelashes, Abnormal eyebrow morphol... |
ORPHA:90153 |
| Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
| Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
| Non-Functioning Paraganglioma |
|
Pallor, Flushing, Weight loss |
ORPHA:94080 |
| Dermatomyositis |
|
Palmar hyperkeratosis, Facial erythema, Skin ulcer, Erythema, V-sign, Cutaneous photosensitivity,... |
ORPHA:221 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Failure to thrive, Hydrops fetalis, Dehydration, Jaundice |
ORPHA:79282 |
| Autosomal Dominant Cutis Laxa |
|
Redundant neck skin, Premature skin wrinkling, Prematurely aged appearance, Redundant skin, Cutis... |
ORPHA:90348 |
| Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
| Systemic Capillary Leak Syndrome |
|
Pulmonary edema, Pedal edema, Pleural effusion, Weight loss |
ORPHA:188 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Excessive wrinkled skin |
ORPHA:137608 |
| Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Hyperkeratosis, Long eyelashes, Thickened skin, Weight loss, Bruising s... |
ORPHA:79430 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Progeroid facial appearance, Brittle hair, Death in early a... |
OMIM:608612 |
| Scleromyxedema |
|
Generalized abnormality of skin, Sclerodactyly, Thickened skin, Aged leonine appearance, Pruritus |
ORPHA:167635 |
| Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Dehydration, Acrocyanosis |
OMIM:259900 |
| Recon Progeroid Syndrome |
|
Scaling skin, Cutaneous photosensitivity, Hyperconvex thumb nails, Hirsutism, Dry skin, Livedo re... |
OMIM:620370 |
| Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Redundant neck skin, Weight loss |
ORPHA:1842 |
| Nephrogenic Diabetes Insipidus |
|
Failure to thrive, Polyhydramnios, Hypernatremic dehydration |
ORPHA:223 |
| Bone Marrow Failure Syndrome 3 |
|
Nail dystrophy, Small nail, Hyperkeratosis, Eczematoid dermatitis, Failure to thrive, Sparse hair... |
OMIM:617052 |
| Gapo Syndrome |
|
Palpebral edema, Prematurely aged appearance, Sparse eyelashes, Sparse eyebrow, Early balding, Al... |
ORPHA:2067 |
| Focal Myositis |
|
Weight loss |
ORPHA:48918 |
| Alexander Disease Type I |
|
Cachexia, Failure to thrive |
ORPHA:363717 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Frontal balding, Miscarriage, Hirsutism, Dehydration, Failure to thrive, Weight loss, Acne |
ORPHA:90794 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Patchy alopecia, Sparse hair, Progeroid facial appearance |
OMIM:617763 |
| Wrinkly Skin Syndrome |
|
Redundant skin, Failure to thrive, Short nail, Fragile nails, Sparse hair, Palmoplantar cutis lax... |
OMIM:278250 |
| Graves Disease |
|
Onycholysis, Weight loss |
OMIM:275000 |
| Xeroderma Pigmentosum |
|
Cutaneous photosensitivity, Alopecia, Hyperkeratosis, Dry skin, Conjunctival telangiectasia, Fail... |
ORPHA:910 |
| Bartter Syndrome Type 4 |
|
Polyhydramnios, Severe failure to thrive, Dehydration, Failure to thrive, Small for gestational age |
ORPHA:89938 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Skin ulcer, Dehydration, Sparse scalp hair, Death in infancy, Failure to thrive, Joint swelling, ... |
ORPHA:534 |
| Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
| Atypical Werner Syndrome |
|
Premature graying of hair, Progeroid facial appearance, Skin ulcer, Abnormal hair morphology, Pre... |
ORPHA:79474 |
| Ablepharon Macrostomia Syndrome |
|
Breast hypoplasia, Excessive wrinkled skin, Absent eyelashes, Redundant skin, Dry skin, Absent ey... |
ORPHA:920 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Nail dystrophy, Small nail, Sclerodactyly, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma |
OMIM:610644 |
| Primary Intestinal Lymphangiectasia |
|
Pleural effusion, Ascites, Generalized edema, Pericardial effusion, Weight loss, Edema |
ORPHA:90362 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Nail dysplasia, Nail dystrophy, Cachexia, Xerostomia, Alopecia |
OMIM:175500 |
| Infantile Nephropathic Cystinosis |
|
Failure to thrive, Dehydration |
ORPHA:411629 |
| Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Coarse hair, Hyperkeratosis with erythema, Sparse hair |
OMIM:118650 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Progeroid facial appearance, Nail dystrophy, Abnormal hair morphology, Prematurely aged appearanc... |
ORPHA:90154 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Tetrasomy 12P |
|
Cachexia, Sparse eyebrow, Sparse hair |
ORPHA:884 |
| Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Dehydration |
ORPHA:230 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia, Polyhydramnios |
ORPHA:2774 |
| Seckel Syndrome |
|
Prematurely aged appearance, Cachexia, Sparse scalp hair |
ORPHA:808 |
| Eec Syndrome |
|
Coarse hair, Nail dystrophy, Slow-growing hair, Hyperkeratosis, Dry skin, Nail pits, Sparse eyebr... |
ORPHA:1896 |
| Ullrich Congenital Muscular Dystrophy 1A |
|
Failure to thrive, Slender build, Follicular hyperkeratosis |
OMIM:254090 |
| Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Dehydration |
ORPHA:3008 |
| Mycetoma |
|
Recurrent bacterial skin infections, Prominent superficial veins, Cobblestone-like hyperkeratosis |
ORPHA:2583 |
| Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
| Takayasu Arteritis |
|
Skin ulcer, Weight loss |
ORPHA:3287 |
| Cystinosis, Nephropathic |
|
Hypopigmentation of hair, Dehydration, Failure to thrive, Weight loss, Failure to thrive in infancy |
OMIM:219800 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| Wolman Disease |
|
Cachexia, Ascites |
ORPHA:75233 |
| Gm1 Gangliosidosis |
|
Hydrops fetalis, Hirsutism, Thickened skin, Failure to thrive, Generalized hirsutism, Weight loss |
ORPHA:354 |
| Budd-Chiari Syndrome |
|
Jaundice, Ascites, Weight loss |
ORPHA:131 |
| Rheumatoid Arthritis |
|
Joint swelling, Weight loss |
OMIM:180300 |
| Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
| Wild Type Attr Amyloidosis |
|
Pleural effusion, Pulmonary edema, Pedal edema, Weight loss |
ORPHA:330001 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Nail dystrophy, Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Hyperkera... |
ORPHA:79501 |
| Pearson Syndrome |
|
Hydrops fetalis, Cutaneous photosensitivity, Corneal stromal edema, Dehydration, Small for gestat... |
ORPHA:699 |
| Aicardi-Goutieres Syndrome 9 |
|
Ascites, Chilblains, Dry skin, Failure to thrive, Pericardial effusion, Weight loss, Edema |
OMIM:619487 |
| Microsporidiosis |
|
Cachexia, Dehydration, Weight loss |
ORPHA:2552 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Skin ulcer, Weight loss |
ORPHA:86884 |
| Cockayne Syndrome B |
|
Severe failure to thrive, Death in childhood, Abnormal hair morphology, Cutaneous photosensitivit... |
OMIM:133540 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Generalized hirsutism |
ORPHA:1933 |
| Primary Myelofibrosis |
|
Purpura, Petechiae, Cachexia, Ecchymosis, Pallor |
ORPHA:824 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
| Bartter Syndrome, Type 3 |
|
Dehydration |
OMIM:607364 |
| Ménétrier Disease |
|
Peripheral edema, Weight loss |
ORPHA:2494 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Excessive wrinkled skin, Bruising susceptibility, Poor wound healing, Palmoplantar cutis laxa, Fo... |
OMIM:225400 |
| Nestor-Guillermo Progeria Syndrome |
|
Progeroid facial appearance, Nail dystrophy, Sparse scalp hair, Dry skin, Sparse eyelashes, Failu... |
OMIM:614008 |
| Adult-Onset Still Disease |
|
Erythema, Skin rash, Weight loss, Joint swelling, Pruritus |
ORPHA:829 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Failure to thrive, Dehydration |
ORPHA:168558 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hypoplastic fingernail, Oligohydramnios, Dehydration |
ORPHA:96191 |
| Distal Renal Tubular Acidosis |
|
Failure to thrive, Dehydration |
ORPHA:18 |
| Pneumocystosis |
|
Chronic oral candidiasis, Pleural effusion, Weight loss |
ORPHA:723 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Failure to thrive, Dehydration |
ORPHA:289548 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Nail dystrophy, Facial hirsutism, Hyperkeratosis, Hypoplastic nipples, Ectodermal dysplasia, Spar... |
OMIM:604292 |
| Huntington Disease |
|
Decreased body mass index, Weight loss |
ORPHA:399 |
| Noonan Syndrome 2 |
|
Redundant neck skin, Polyhydramnios, Hyperkeratosis, Low posterior hairline, Curly hair, Increase... |
OMIM:605275 |
| Juvenile Nephropathic Cystinosis |
|
Failure to thrive, Dehydration |
ORPHA:411634 |
| Chronic Graft Versus Host Disease |
|
Nail dystrophy, Skin ulcer, Morphea, Erythema, Pleural effusion, Ascites, Thickened skin, Onychol... |
ORPHA:99921 |
| Aredyld Syndrome |
|
Cachexia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:1133 |
| Bartter Syndrome, Type 1, Antenatal |
|
Failure to thrive, Polyhydramnios, Dehydration, Small for gestational age |
OMIM:601678 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Weight loss |
ORPHA:298 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Nail dysplasia, Hyperkeratosis, Hypoplastic nipples, Ectodermal dysplasia, Sparse scalp hair, Spa... |
OMIM:129900 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
High anterior hairline, Excessive wrinkled skin, Prematurely aged appearance, Long eyelashes, Spa... |
OMIM:619950 |
| Adrenocortical Carcinoma |
|
Increased body weight, Striae distensae, Hypertrichosis, Weight loss |
ORPHA:1501 |
| Cryptogenic Organizing Pneumonia |
|
Cyanosis, Weight loss |
ORPHA:1302 |
| Neuroleptic Malignant Syndrome |
|
Dehydration |
ORPHA:94093 |
| Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
| Leprechaunism |
|
Acanthosis nigricans, Hyperkeratosis, Decreased body weight, Thickened skin, Reduced subcutaneous... |
ORPHA:508 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss |
ORPHA:3208 |
| Rhabdoid Tumor |
|
Weight loss |
ORPHA:69077 |
| Cystic Fibrosis |
|
Failure to thrive, Dehydration |
OMIM:219700 |
| Acute Promyelocytic Leukemia |
|
Purpura, Petechiae, Ecchymosis, Weight loss, Bruising susceptibility |
ORPHA:520 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Excessive wrinkled skin, Abnormality of subcutaneous fat tissue |
ORPHA:1901 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Cachexia, Failure to thrive in infancy |
OMIM:616801 |
| Primary Fanconi Renotubular Syndrome |
|
Dehydration, Weight loss |
ORPHA:3337 |
| Chime Syndrome |
|
Skin ulcer, Ichthyosis, Hyperkeratosis, Sparse hair, Fine hair, Erythema |
ORPHA:3474 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Pruritus, Jaundice, Ascites, Weight loss |
ORPHA:370348 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Purpura, Skin rash, Urticaria, Cutis marmorata, Weight loss, Acrocyanosis |
ORPHA:183 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Ichthyosis, Hypoplastic fingernail, Hyperconvex fingernails, Abnormal hair morphology, Abnormalit... |
ORPHA:2273 |
| Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Progeroid facial appearance, Alopecia |
ORPHA:412057 |
| Acute Monoblastic/Monocytic Leukemia |
|
Weight loss, Periorbital edema |
ORPHA:514 |
| Mucolipidosis Type Ii |
|
White hair, Thickened skin, Weight loss, Fine hair, Oligohydramnios, Telangiectases of the cheeks... |
ORPHA:576 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Bartter Syndrome, Type 2, Antenatal |
|
Failure to thrive, Polyhydramnios, Dehydration, Small for gestational age |
OMIM:241200 |
| Marburg Hemorrhagic Fever |
|
Jaundice, Petechiae, Skin rash, Dehydration, Bruising susceptibility, Maculopapular exanthema |
ORPHA:99826 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Prematurely aged appearance, Redundant skin, Cutis laxa, Poor wound healing, Progeroid facial app... |
OMIM:123700 |
| Insulin-Resistance Syndrome Type B |
|
Acanthosis nigricans, Skin rash, Increased body weight, Decreased body weight, Abnormality of bod... |
ORPHA:2298 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Premature graying of hair, Acanthosis nigricans, Abnormality of the nail, Reduced subcutaneous ad... |
ORPHA:280365 |
| Kikuchi-Fujimoto Disease |
|
Palpebral edema, Erythema, Cutaneous photosensitivity, Malar rash, Skin rash, Pleural effusion, V... |
ORPHA:50918 |
| Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Dehydration |
ORPHA:90038 |
| Rat-Bite Fever |
|
Morbilliform rash, Scaling skin, Skin rash, Pustule, Weight loss, Erythema nodosum, Maculopapular... |
ORPHA:31205 |
| Restrictive Dermopathy 1 |
|
Scaling skin, Stillbirth, Polyhydramnios, Absent eyelashes, Prominent superficial blood vessels, ... |
OMIM:275210 |
| Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
| Familial Thrombocytosis |
|
Miscarriage, Pruritus, Weight loss |
ORPHA:71493 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Facial telangiectasia, Intermittent jaundice, Ascites, Weight loss |
ORPHA:100085 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Acanthosis nigricans, Cachexia, Synophrys, Obesity, Abnormal hair pattern |
ORPHA:85293 |
| Gallbladder Neuroendocrine Tumor |
|
Intermittent jaundice, Ascites, Weight loss |
ORPHA:100086 |
| Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Alopecia, Weight loss, Eczematoid dermatitis |
OMIM:212750 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Stillbirth, Death in childhood, Hyperkeratosis, Sparse scalp hair, Dry skin, Death in infancy, Sp... |
OMIM:210710 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Kindler Epidermolysis Bullosa |
|
Cutaneous photosensitivity, Hyperkeratosis, Abnormal toenail morphology, Palmoplantar keratoderma... |
ORPHA:2908 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
| Proximal Renal Tubular Acidosis |
|
Failure to thrive, Dehydration |
ORPHA:47159 |
| Leprosy |
|
Loss of eyelashes, Acral ulceration, Hyperkeratosis, Penetrating foot ulcers, Absent eyebrow, Spa... |
ORPHA:548 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Nail dystrophy, Cachexia, Eczematoid dermatitis, Urticaria, Inflammatory abnormality of the skin,... |
ORPHA:37042 |
| Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Urticaria, Weight loss, Pallor, Flushing, Pruritus |
ORPHA:98849 |
| Cockayne Syndrome A |
|
Cutaneous photosensitivity, Prematurely aged appearance, Dry skin, Failure to thrive, Reduced sub... |
OMIM:216400 |
| Klatskin Tumor |
|
Jaundice, Weight loss |
ORPHA:99978 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor, Flushing, Weight loss |
ORPHA:276621 |
| Al Amyloidosis |
|
Peripheral edema, Xerostomia, Bruising susceptibility, Weight loss |
ORPHA:85443 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Caroli Disease |
|
Pruritus, Jaundice, Ascites, Weight loss |
ORPHA:53035 |
| Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Skin rash, Weight loss, Eczematoid dermatitis |
ORPHA:79128 |
| Giant Cell Arteritis |
|
Skin ulcer, Weight loss, Alopecia |
ORPHA:397 |
| Bronchial Neuroendocrine Tumor |
|
Dermatological manifestations of systemic disorders, Facial telangiectasia, Weight loss |
ORPHA:97287 |
| Toxic Epidermal Necrolysis |
|
Acantholysis, Skin ulcer, Erythema, Weight loss |
ORPHA:537 |
| Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Pallor, Weight loss |
ORPHA:35858 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Oligohydramnios, Bruising susceptibility, Progeroid facial a... |
OMIM:616914 |
| Bethlem Muscular Dystrophy |
|
Hyperkeratosis |
ORPHA:610 |
| Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis, Pilomatrixoma |
OMIM:620189 |
| Acquired Generalized Lipodystrophy |
|
Acanthosis nigricans, Generalized hirsutism, Progeroid facial appearance |
ORPHA:79086 |
| Geroderma Osteodysplastica |
|
Prematurely aged appearance, Redundant skin |
ORPHA:2078 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Purpura, Skin ulcer, Increased body weight, Hirsutism, Sparse scalp hair, Plethora, Flushing, Ecc... |
ORPHA:99889 |
| X-Linked Creatine Transporter Deficiency |
|
Cachexia, Redundant skin |
ORPHA:52503 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
| Multiple Endocrine Neoplasia Type 1 |
|
Dehydration, Weight loss |
ORPHA:652 |
| Thymic Neuroendocrine Tumor |
|
Prominent veins on trunk, Weight loss |
ORPHA:97289 |
| Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
| Lymphatic Filariasis |
|
Hyperkeratosis, Lymphedema, Predominantly lower limb lymphedema |
ORPHA:2035 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Anaplastic Thyroid Carcinoma |
|
Weight loss |
ORPHA:142 |
| Refractory Celiac Disease |
|
Inflammatory abnormality of the skin, Weight loss |
ORPHA:398063 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis, High anterior hairline |
OMIM:615510 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Pleural empyema, Pleural effusion, Weight loss |
ORPHA:67 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Ichthyosis, Hyperkeratosis, Ectodermal dysplasia, Eczematoid dermatitis, Slender build, Small for... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Ichthyosis, Hyperkeratosis, Ectodermal dysplasia, Eczematoid dermatitis, Slender build, Small for... |
ORPHA:363958 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in childhood, Redundant skin, Ascites, Death in infancy, Cutis laxa, Periorbital edema, Pro... |
OMIM:613177 |
| Malignant Atrophic Papulosis |
|
Pleural effusion, Telangiectasia of the skin, Weight loss |
ORPHA:679 |
| Nephroblastoma |
|
Weight loss |
ORPHA:654 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Cachexia, Severe failure to thrive |
ORPHA:371364 |
| Aicardi-Goutieres Syndrome 7 |
|
Skin rash, Chilblains, Atopic dermatitis, Pericardial effusion, Urticaria, Weight loss, Edema, Ol... |
OMIM:615846 |
| Wrinkly Skin Syndrome |
|
Excessive wrinkled skin, Excessive skin wrinkling on dorsum of hands and fingers, Prominent veins... |
ORPHA:2834 |
| Castleman Disease |
|
Anasarca, Jaundice, Weight loss |
ORPHA:160 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia |
ORPHA:42 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Cutaneous telangiectasia, Cutaneous photosensitivity, Progeroid faci... |
OMIM:615919 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Joint swelling, Weight loss |
ORPHA:465508 |
| Stevens-Johnson Syndrome |
|
Acantholysis, Erythema, Weight loss |
ORPHA:36426 |
| Fabry Disease |
|
Hyperkeratosis, Lymphedema, Conjunctival telangiectasia, Angiokeratoma, Telangiectasia of the ski... |
ORPHA:324 |
| Q Fever |
|
Purpura, Pleural effusion, Pericardial effusion, Weight loss, Maculopapular exanthema |
ORPHA:781 |
| Down Syndrome |
|
Prematurely aged appearance, Obesity, Sparse hair |
ORPHA:870 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia, Cutaneous photosensitivity |
ORPHA:3217 |
| Restrictive Dermopathy |
|
Scaling skin, Polyhydramnios, Generalized hyperkeratosis, Sparse or absent eyelashes, Aplasia/Hyp... |
ORPHA:1662 |
| Neuroendocrine Tumor Of The Colon |
|
Facial telangiectasia, Weight loss |
ORPHA:100080 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Cutis laxa, Bruising susceptibility, Polyhydramnios, Follicular hyperkeratosis |
OMIM:614557 |
| Noonan Syndrome With Multiple Lentigines |
|
Excessive wrinkled skin |
ORPHA:500 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Weight loss |
ORPHA:747 |
| Simple Cryoglobulinemia |
|
Purpura, Acral ulceration, Vascular skin abnormality, Weight loss, Cold urticaria |
ORPHA:91139 |
| Glucagonoma |
|
Skin rash, Intermittent jaundice, Ascites, Weight loss, Subcutaneous lipoma, Necrolytic migratory... |
ORPHA:97280 |
| 6Q Terminal Deletion Syndrome |
|
Highly arched eyebrow, Hyperkeratosis, Failure to thrive, Obesity, Low anterior hairline |
ORPHA:75857 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Premature graying of hair, Acanthosis nigricans, Erythema, Death in adolescence, Failure to thriv... |
OMIM:256040 |
| Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
| Perry Syndrome |
|
Weight loss |
OMIM:168605 |
| Polycythemia Vera |
|
Bruising susceptibility, Pruritus, Weight loss |
ORPHA:729 |
| Thymoma |
|
Weight loss, Scleroderma |
ORPHA:99867 |
| Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Failure to thrive, Polyhydramnios, Progeroid facial appearance |
OMIM:614098 |
| Alveolar Echinococcosis |
|
Jaundice, Cutaneous abscess, Pedal edema, Weight loss |
ORPHA:284 |
| Pelizaeus-Merzbacher Disease |
|
Cachexia, Failure to thrive in infancy |
ORPHA:702 |
| Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
| Ileal Neuroendocrine Tumor |
|
Edema, Dermatological manifestations of systemic disorders, Weight loss |
ORPHA:100078 |
| Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
| Cystic Echinococcosis |
|
Urticaria, Jaundice, Weight loss |
ORPHA:400 |
| Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia, Lymphedema, Cutis marmorata, Subcutaneous hemorrhage, Telangiectasia |
ORPHA:109 |
| Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Petechiae, Purpura, Weight loss |
ORPHA:85450 |
| Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor, Flushing, Weight loss |
ORPHA:29072 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Pallor, Weight loss |
OMIM:301310 |
| Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Weight loss |
OMIM:256700 |
| Cockayne Syndrome Type 2 |
|
Progeroid facial appearance |
ORPHA:90322 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Slender build, Weight loss, Death in early adulthood |
OMIM:603041 |
| Acute Adrenal Insufficiency |
|
Failure to thrive, Sparse axillary hair, Dry skin, Weight loss |
ORPHA:95409 |
| Primary Sclerosing Cholangitis |
|
Jaundice, Spider hemangioma, Pleural effusion, Ascites, Dilated superficial abdominal veins, Weig... |
ORPHA:171 |
| Neuroendocrine Tumor Of The Rectum |
|
Facial telangiectasia, Weight loss |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Facial telangiectasia, Weight loss |
ORPHA:100082 |
| Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Dry skin, Weight loss |
ORPHA:199299 |
| Pancreatoblastoma |
|
Jaundice, Weight loss |
ORPHA:677 |
| Cockayne Syndrome Type 1 |
|
Failure to thrive, Cutaneous photosensitivity, Progeroid facial appearance |
ORPHA:90321 |
| De Sanctis-Cacchione Syndrome |
|
Parakeratosis, Cutaneous photosensitivity, Telangiectasia |
OMIM:278800 |
| Neuroblastoma |
|
Anemic pallor, Weight loss |
ORPHA:635 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Coarse hair, Parakeratosis, Seborrheic dermatitis, Superficial dermal perivascular inflammatory i... |
ORPHA:83617 |
| Erdheim-Chester Disease |
|
Joint swelling, Skin rash, Pleural effusion, Weight loss |
ORPHA:35687 |
| Arterial Tortuosity Syndrome |
|
Prematurely aged appearance, Redundant skin, Telangiectasia of the skin |
ORPHA:3342 |
| Whipple Disease |
|
Cachexia, Pedal edema |
ORPHA:3452 |
| Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
| Polymyositis |
|
Weight loss |
ORPHA:732 |
| Amyotrophic Lateral Sclerosis |
|
Cachexia, Xerostomia |
ORPHA:803 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Nail dystrophy, Death in childhood, Sparse eyebrow, Sparse hair, Palmoplantar hyperkeratosis, Pro... |
OMIM:619127 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Progeroid facial appearance |
OMIM:300578 |
| Riddle Syndrome |
|
Scaling skin, Conjunctival telangiectasia, Weight loss, Erythema, Telangiectasia |
ORPHA:420741 |
| Neuroendocrine Tumor Of Stomach |
|
Dermatological manifestations of systemic disorders, Facial telangiectasia, Weight loss |
ORPHA:100075 |
| Systemic Lupus Erythematosus |
|
Cutaneous photosensitivity, Malar rash, Discoid lupus rash, Weight loss, Alopecia |
ORPHA:536 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Abnormality of hair texture, Epidermal thickening, Synophrys, Thickened skin, Orthokeratotic hype... |
ORPHA:73223 |
| Saul-Wilson Syndrome |
|
Prominent superficial veins, Progeroid facial appearance |
OMIM:618150 |
| 8P23.1 Microdeletion Syndrome |
|
Obesity, Weight loss |
ORPHA:251071 |
| Ppoma |
|
Subcutaneous lipoma, Intermittent jaundice, Ascites, Weight loss |
ORPHA:97278 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Pedal edema, Weight loss |
ORPHA:49041 |
| Warburg-Cinotti Syndrome |
|
Joint swelling, Poor wound healing, Erythema, Follicular hyperkeratosis |
OMIM:618175 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Edema, Weight loss |
ORPHA:309031 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hydrops fetalis, Weight loss |
OMIM:613673 |
| Immunodeficiency 31C |
|
Chronic oral candidiasis, Chronic mucocutaneous candidiasis, Recurrent vulvovaginal candidiasis, ... |
OMIM:614162 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Seborrheic dermatitis, Hyperparakeratosis, Telangiectasia of the skin |
ORPHA:276280 |
| Arterial Tortuosity Syndrome |
|
Cutis laxa, Bruising susceptibility, Telangiectases of the cheeks, Progeroid facial appearance |
OMIM:208050 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Schwartz-Jampel Syndrome |
|
Polyhydramnios, Cachexia, Decreased body weight, Distichiasis, Death in infancy, Abnormal eyebrow... |
ORPHA:800 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss |
ORPHA:54251 |
| Silver-Russell Syndrome |
|
Cachexia, Obesity, Failure to thrive in infancy |
ORPHA:813 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
| Familial Glucocorticoid Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:361 |
| Classical Ehlers-Danlos Syndrome |
|
Blepharochalasis, Prematurely aged appearance, Fragile skin, Ecchymosis, Acrocyanosis, Joint swel... |
ORPHA:287 |
| Somatostatinoma |
|
Subcutaneous lipoma, Intermittent jaundice, Ascites, Weight loss |
ORPHA:97283 |
| Pyomyositis |
|
Recurrent cutaneous abscess formation, Weight loss |
ORPHA:764 |
| Solitary Fibrous Tumor |
|
Weight loss |
ORPHA:2126 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Cutaneous photosensitivity, Progeroid facial appearance |
OMIM:610651 |
| Infantile Krabbe Disease |
|
Cachexia, Failure to thrive |
ORPHA:206436 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Fragile skin, Synophrys, Bruising susceptibility, Poor wound healing, Follicular hyperkeratosis |
ORPHA:536545 |
| Granulomatosis With Polyangiitis |
|
Skin ulcer, Weight loss |
OMIM:608710 |
| Tropical Pancreatitis |
|
Jaundice, Weight loss |
ORPHA:103918 |
| Granulomatosis With Polyangiitis |
|
Purpura, Skin ulcer, Skin rash, Weight loss, Periorbital edema |
ORPHA:900 |
| Grfoma |
|
Subcutaneous lipoma, Intermittent jaundice, Ascites, Weight loss |
ORPHA:97261 |
| Addison Disease |
|
Failure to thrive, Sparse axillary hair, Dry skin, Weight loss |
ORPHA:85138 |
| Postinfectious Vasculitis |
|
Palpable purpura, Vasculitis in the skin, Cutis marmorata, Inflammatory abnormality of the skin, ... |
ORPHA:48435 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:300605 |
| Pulmonary Alveolar Microlithiasis |
|
Peripheral edema, Cyanosis, Weight loss |
ORPHA:60025 |
| Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Pallor, Abnormal hair quantity, Weight loss |
ORPHA:91347 |
| Brucellosis |
|
Purpura, Miscarriage, Pleural effusion, Failure to thrive, Weight loss, Small for gestational age |
ORPHA:1304 |
| Nijmegen Breakage Syndrome |
|
Cutaneous photosensitivity, Abnormal hair morphology, Cachexia, Abnormal hair quantity, Low anter... |
ORPHA:647 |
| Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
| Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Rett Syndrome |
|
Cachexia |
OMIM:312750 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Prematurely aged appearance, Redundant skin, Hypoplastic fingernail, Hyperconvex fingernails |
ORPHA:2658 |
| Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
| Trisomy 18 |
|
Cachexia, Abnormal toenail morphology, Oligohydramnios |
ORPHA:3380 |
| Multiple Myeloma |
|
Pleural effusion, Weight loss |
ORPHA:29073 |
| Cowden Syndrome |
|
Palmoplantar keratoderma, Failure to thrive, Mucosal telangiectasiae, Generalized hyperkeratosis |
ORPHA:201 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Joint swelling, Weight loss |
ORPHA:85408 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
| Vascular Ehlers-Danlos Syndrome |
|
Excessive wrinkled skin, Prematurely aged appearance, Abnormal eyelash morphology, Abnormality of... |
ORPHA:286 |
| Familial Colorectal Cancer Type X |
|
Weight loss |
ORPHA:440437 |
| Familial Pancreatic Carcinoma |
|
Jaundice, Weight loss |
ORPHA:1333 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Polyhydramnios, Weight loss |
ORPHA:2020 |
| Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Skin rash, Weight loss |
OMIM:301074 |
| Cerebrotendinous Xanthomatosis |
|
Prematurely aged appearance, Prolonged neonatal jaundice |
ORPHA:909 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Skin rash, Pustular rash, Vasculitis in the skin, Weight loss, Joint swelling, Recurrent skin inf... |
OMIM:619381 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss |
OMIM:607459 |
| Williams Syndrome |
|
Hypoplastic toenails, Death in early adulthood, Prematurely aged appearance, Redundant skin, Incr... |
ORPHA:904 |
| Proteus Syndrome |
|
Abnormal subcutaneous fat tissue distribution, Generalized hyperkeratosis, Vascular skin abnormal... |
ORPHA:744 |
| Branchioskeletogenital Syndrome |
|
Highly arched eyebrow, Periorbital wrinkles, Absent nipple, Synophrys, Blepharochalasis |
ORPHA:1299 |
| Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
| Zollinger-Ellison Syndrome |
|
Jaundice, Erythema, Weight loss |
ORPHA:913 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Facial edema, Xerostomia, Palpebral edema, Weight loss |
ORPHA:79078 |
| Thyrotoxic Periodic Paralysis |
|
Obesity, Weight loss |
ORPHA:79102 |
| Fanconi Anemia |
|
Oligohydramnios, Weight loss |
ORPHA:84 |
| Sarcoidosis |
|
Chylothorax, Pleural effusion, Joint swelling, Weight loss, Erythema nodosum, Maculopapular exant... |
ORPHA:797 |
| Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
| Lynch Syndrome |
|
Death in early adulthood, Weight loss, Death in infancy |
ORPHA:144 |
| Nocardiosis |
|
Cutaneous abscess, Pleural effusion, Weight loss |
ORPHA:31204 |
| Behçet Disease |
|
Pleural effusion, Weight loss, Acne |
ORPHA:117 |
| Igg4-Related Kidney Disease |
|
Pedal edema, Inflammatory abnormality of the skin, Weight loss |
ORPHA:449395 |
| African Trypanosomiasis |
|
Jaundice, Miscarriage, Weight loss, Pruritus, Alopecia |
ORPHA:3385 |
| Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Pleural effusion, Weight loss |
OMIM:181000 |
| Juvenile Polyposis Of Infancy |
|
Cachexia, Subcutaneous lipoma |
ORPHA:79076 |
| Oculopharyngodistal Myopathy 1 |
|
Weight loss |
OMIM:164310 |
| Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Poor wound healing, Skin ulcer, Ecchymosis |
ORPHA:2072 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Cystoid macular edema, Skin rash, Macular edema, Weight loss |
ORPHA:91500 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
| Parathyroid Carcinoma |
|
Weight loss |
ORPHA:143 |
| Camurati-Engelmann Disease |
|
Abnormal subcutaneous fat tissue distribution, Cachexia, Slender build |
ORPHA:1328 |
| Goodpasture Syndrome |
|
Pallor, Cyanosis, Weight loss |
OMIM:233450 |
| Marfan Syndrome |
|
Cachexia, Slender build, Striae distensae |
ORPHA:558 |
| Tropical Endomyocardial Fibrosis |
|
Peripheral edema, Cachexia, Ascites, Pedal edema |
ORPHA:75565 |
| Choreoacanthocytosis |
|
Weight loss |
ORPHA:2388 |
| Stickler Syndrome |
|
Cachexia, Slender build |
ORPHA:828 |
| Norrie Disease |
|
Cachexia, Failure to thrive |
ORPHA:649 |
