| Retinitis Pigmentosa, Late-Adult Onset |
|
Rod-cone dystrophy |
OMIM:268025 |
| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Retinitis Pigmentosa 24 |
|
Cone dystrophy, Rod-cone dystrophy |
OMIM:300155 |
| Retinitis Pigmentosa, Y-Linked |
|
Rod-cone dystrophy |
OMIM:400004 |
| Retinitis Pigmentosa 55 |
|
Rod-cone dystrophy |
OMIM:613575 |
| Cone-Rod Dystrophy, X-Linked, 2 |
|
Cone/cone-rod dystrophy, Cone dystrophy |
OMIM:300085 |
| Retinitis Pigmentosa 67 |
|
Rod-cone dystrophy |
OMIM:615565 |
| Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
| Choroidal Dystrophy, Central Areolar, 3 |
|
Drusen, Chorioretinal atrophy |
OMIM:613144 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Porokeratosis Plantaris Palmaris Et Disseminata |
|
Porokeratosis, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratotic papule, Generalized abnormal... |
ORPHA:737 |
| Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Cutaneous photosensitivity, Porokeratosis |
ORPHA:735 |
| Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Perifollicular hyperkeratosis, Spars... |
ORPHA:505 |
| Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
| Aquagenic Palmoplantar Keratoderma |
|
Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic... |
ORPHA:498359 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:617756 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
| Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
| Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
| Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Ridged nail, Acrokeratosis |
OMIM:101900 |
| Ulerythema Ophryogenesis |
|
Acne, Miscarriage, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, C... |
ORPHA:3406 |
| Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
| Anonychia With Flexural Pigmentation |
|
Macular telangiectasia, Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular h... |
ORPHA:69125 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis, Fragile skin |
OMIM:615028 |
| Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... |
OMIM:617571 |
| Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythrode... |
ORPHA:312 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N... |
OMIM:212360 |
| Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy |
OMIM:136550 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I... |
ORPHA:79503 |
| Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sp... |
OMIM:607903 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis, Cutaneous photosensitivity |
ORPHA:1336 |
| Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis |
ORPHA:139414 |
| Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
| Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosi... |
ORPHA:89838 |
| Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
| Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
| Chronic Hiccup |
|
Dehydration, Weight loss |
ORPHA:396 |
| Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Generalized hirsutism |
ORPHA:2297 |
| Lamellar Ichthyosis |
|
Pruritus, Erythroderma, Dehydration, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Sparse ... |
ORPHA:313 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Absent facial hair, Abnormality of... |
ORPHA:90368 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
| Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
| Dermatoleukodystrophy |
|
Thickened skin, Premature skin wrinkling, Progeroid facial appearance |
OMIM:221790 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... |
OMIM:617526 |
| Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia, Cachexia |
ORPHA:2574 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
| Elastoderma |
|
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa |
ORPHA:228240 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Alopecia, Scaling skin on fingertip, Hypergranulosis, Honeycomb palmoplantar hyper... |
ORPHA:79395 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
| Lymphatic Malformation 4 |
|
Prominent superficial veins, Lymphedema, Pedal edema, Hyperkeratosis, Toenail dysplasia |
OMIM:615907 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Dehydration |
OMIM:601410 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Dehydration |
OMIM:610370 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Skin rash, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis, Weig... |
ORPHA:317 |
| Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Skin fragility with non-scarring blistering, Na... |
ORPHA:79399 |
| Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Ectodermal dysplasia, Palmoplantar k... |
OMIM:224750 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... |
OMIM:618546 |
| Netherton Syndrome |
|
Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology,... |
ORPHA:634 |
| Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... |
ORPHA:454 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
| Classic Mycosis Fungoides |
|
Alopecia, Skin rash, Eczema, Edema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin, Abn... |
ORPHA:2584 |
| Bazex Syndrome |
|
Parakeratosis, Edema, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dyst... |
ORPHA:166113 |
| Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin, Generalized hirsutism |
ORPHA:2812 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
| Combined Malonic And Methylmalonic Aciduria |
|
Failure to thrive, Dehydration |
OMIM:614265 |
| Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern... |
ORPHA:79147 |
| Olmsted Syndrome 2 |
|
Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa... |
OMIM:619208 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery... |
ORPHA:64745 |
| Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, ... |
OMIM:607602 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... |
OMIM:601952 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
| Reticular Dysgenesis |
|
Skin rash, Skin ulcer, Dehydration, Weight loss, Failure to thrive |
ORPHA:33355 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Death in infancy, Dehydration |
OMIM:251850 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy... |
OMIM:615821 |
| Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Pustule, Dehydration, Long eyelashes, Failure to thrive |
OMIM:616069 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
| Netherton Syndrome |
|
Hypernatremic dehydration, Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infecti... |
OMIM:256500 |
| Coloboma Of Macula |
|
Macular coloboma |
OMIM:120300 |
| Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Ichthyosis, Orthokeratosis |
OMIM:607936 |
| Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Scaling skin, Palmoplantar keratoderma, Fragile skin |
OMIM:146590 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy |
OMIM:616487 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp... |
ORPHA:2200 |
| Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
OMIM:158000 |
| Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule |
ORPHA:464318 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
| Ichthyosis Prematurity Syndrome |
|
Polyhydramnios, Pruritus, Dermatographic urticaria, Generalized ichthyosis, Follicular hyperkerat... |
OMIM:608649 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hyperkerat... |
OMIM:602400 |
| Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
| Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Ectodermal dysplasia, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ich... |
OMIM:613576 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
| Transaldolase Deficiency |
|
Premature skin wrinkling, Hydrops fetalis, Edema, Telangiectasia |
ORPHA:101028 |
| Bathing Suit Ichthyosis |
|
Parakeratosis, Alopecia, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Palmoplantar ... |
ORPHA:100976 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... |
OMIM:300918 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Alopecia, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform eryt... |
OMIM:242300 |
| Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... |
OMIM:612281 |
| Epidermolytic Palmoplantar Keratoderma |
|
Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar h... |
ORPHA:2199 |
| Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Cutis laxa |
OMIM:614434 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Skin ulcer,... |
ORPHA:90280 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:613943 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Plantar hyperkeratosis, Cutaneous photosensitivity, Skin fragility with non-scarring bl... |
ORPHA:79397 |
| Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
| Harlequin Ichthyosis |
|
Erythroderma, Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis |
ORPHA:457 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Skin vesi... |
OMIM:613102 |
| Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Darier Disease |
|
Acrokeratosis, Pruritus, Thickened skin, Abnormal hair morphology, Palmoplantar keratoderma, Skin... |
ORPHA:218 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop... |
OMIM:148700 |
| Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
| Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... |
OMIM:620148 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Scaling skin |
OMIM:617115 |
| Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper... |
OMIM:620014 |
| Central Diabetes Insipidus |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:178029 |
| Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin |
OMIM:602723 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Onycho... |
OMIM:616295 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair |
OMIM:618625 |
| Alg8-Cdg |
|
Small for gestational age, Abnormality of subcutaneous fat tissue, Edema, Hydrops fetalis, Cutis ... |
ORPHA:79325 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Dehydration |
ORPHA:28 |
| Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
| Atrophoderma Vermiculata |
|
Pruritus, Erythema, Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:79100 |
| Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Pruritus, Skin ulcer, Hyperkeratosis, Onycholysis |
ORPHA:525 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss, Edema, Dehydration |
ORPHA:103910 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
| White Sponge Nevus 2 |
|
Hyperparakeratosis, Edema |
OMIM:615785 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Familial Cold Urticaria |
|
Pruritus, Urticaria, Erythema, Dehydration |
ORPHA:47045 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin, Patchy alopecia |
OMIM:247100 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma |
OMIM:133200 |
| Lichen Planus Pemphigoides |
|
Pruritus, Hyperkeratosis, Abnormality of the nail, Skin vesicle |
ORPHA:254478 |
| Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Small for gestational age, Dehydration |
ORPHA:99886 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker... |
ORPHA:2897 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering... |
ORPHA:158681 |
| Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Premature skin wrinkling, Failure to thrive |
OMIM:617950 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Alopecia, Sparse eyelashes, Edema, Acantholysis, Sparse eyebrow, Palmop... |
OMIM:605676 |
| Keratoderma Hereditarium Mutilans |
|
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor... |
ORPHA:494 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Dehydration, Weight loss |
OMIM:143880 |
| Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Dry skin, Ichthyosis |
ORPHA:461 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
| Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Generalized... |
ORPHA:2269 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Folliculitis, Palm... |
OMIM:308800 |
| Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Thick hair, Polyhydramnios, Edema, Pericardial effusion, Large for g... |
ORPHA:363705 |
| Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss, Ascites, Palmoplantar keratoderma |
ORPHA:2198 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Thin nail, Hypergranulosis, Abnormal hair morphology, Erythema, Hyperkeratosis, Congeni... |
OMIM:242100 |
| Pemphigus Vulgaris |
|
Urticaria, Recurrent cutaneous abscess formation, Weight loss, Acantholysis |
ORPHA:704 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Thickened skin, Weight loss, Fine hair, Ic... |
ORPHA:2221 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
| Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis, Nail dystrophy |
OMIM:175900 |
| Acrogeria |
|
Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Fine hair, Excessive wrinkle... |
ORPHA:2500 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... |
OMIM:604777 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebro... |
OMIM:610768 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Hyperkeratosis, Coarse hair, Sparse hair, Hidrotic ectodermal dysplasia |
ORPHA:1883 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti |
ORPHA:1573 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy |
ORPHA:89843 |
| Combined Malonic And Methylmalonic Acidemia |
|
Failure to thrive, Dehydration |
ORPHA:289504 |
| Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ... |
ORPHA:79151 |
| Ramon Syndrome |
|
Hyperkeratosis, Failure to thrive, Telangiectasia of the skin, Generalized hirsutism |
ORPHA:3019 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Brittle hair, Prematurely aged appearance, Redundant skin, A... |
ORPHA:2963 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Dry skin, Cutis laxa, Hyperkeratosis, Ichthyosis, Failure to thrive, Hypertrichosis |
OMIM:612379 |
| Flynn-Aird Syndrome |
|
Hyperkeratosis, Alopecia, Alopecia of scalp |
OMIM:136300 |
| Noonan Syndrome 8 |
|
Curly hair, Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis, Palmoplantar cutis... |
OMIM:615355 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Failure to thrive, Dehydration |
OMIM:618958 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Meige Disease |
|
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... |
ORPHA:90186 |
| Vulvovaginal Gingival Syndrome |
|
Pruritus, Ridged nail, Parakeratosis, Erythema |
ORPHA:83453 |
| Ichthyosis With Confetti |
|
Pruritus, Erythroderma, Palmoplantar hyperkeratosis, Hypoplastic nipples, Congenital nonbullous i... |
OMIM:609165 |
| Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Brittle hair, Small for gestational age, Trichoschisis, Fine hair, Telangiectas... |
OMIM:601675 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Progeroid facial appearance, Failure to thrive, Small for gestational age, Slender build |
ORPHA:50811 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Dehydration, Death in childhood, Failure to thrive, Hirsutism |
OMIM:214150 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Aged leonine appearance, Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis |
OMIM:227260 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Palmoplantar keratoderm... |
OMIM:618535 |
| Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Thin nail, Hypergranulosis, Sho... |
OMIM:257980 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Failure to thrive, Dehydration |
OMIM:251120 |
| Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Polyhydramnios, Weight loss |
OMIM:620045 |
| Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration, Failure to thrive |
OMIM:143860 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
| Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa |
ORPHA:79148 |
| Familial Benign Chronic Pemphigus |
|
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis |
ORPHA:2841 |
| Nicolaides-Baraitser Syndrome |
|
Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Excessive wrinkl... |
ORPHA:3051 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Dehydration |
OMIM:602722 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Small for gestational age, Jaundice, Dehydration, Ichthyosis, Failure to thrive... |
OMIM:208085 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Hyperkeratosis, Ichthyosis, Scaling skin, Congenital nonbullous ichthyosiform erythrode... |
OMIM:614457 |
| Cog7-Cdg |
|
Excessive wrinkled skin, Jaundice, Failure to thrive, Small for gestational age |
ORPHA:79333 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s... |
OMIM:617337 |
| Sjögren-Larsson Syndrome |
|
Erythema, Urticaria, Hyperkeratosis, Ichthyosis, Dry skin |
ORPHA:816 |
| Microphthalmia, Syndromic 8 |
|
Premature skin wrinkling |
OMIM:601349 |
| Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop... |
ORPHA:79153 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Death in adolescence, Dehydration, Death in childhood |
OMIM:560000 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... |
OMIM:615023 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Cachexia, Abnormal hair morphology, Thickened skin, Lack of ... |
ORPHA:1979 |
| Cole Disease |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:615522 |
| Irida Syndrome |
|
Hyperkeratosis, Pallor, Ichthyosis |
ORPHA:209981 |
| Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... |
OMIM:606545 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Pustule, Atopic dermatitis, Dehydration, Weight loss |
ORPHA:171876 |
| Glucose/Galactose Malabsorption |
|
Failure to thrive, Hypertonic dehydration |
OMIM:606824 |
| Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Eczema, Xerostomia, Dry skin, Hyperkeratosis, Aplasia/... |
ORPHA:238468 |
| Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
| Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
| Prolidase Deficiency |
|
Abnormal fingernail morphology, Pruritus, Crusting erythematous dermatitis, Low anterior hairline... |
ORPHA:742 |
| Pachyonychia Congenita |
|
Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex... |
ORPHA:2309 |
| Superficial Epidermolytic Ichthyosis |
|
Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Ichthyosis |
ORPHA:455 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
| Pachyonychia Congenita 1 |
|
Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis |
OMIM:167200 |
| Dowling-Degos Disease |
|
Abnormal fingernail morphology, Pruritus, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Ge... |
ORPHA:79145 |
| Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Toenail dysplasia, Pedal edema, Hyperkeratosis, ... |
ORPHA:79452 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
| Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Erythema, Weight loss, Urticaria |
ORPHA:703 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry... |
ORPHA:1028 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Dehydration |
OMIM:610600 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Dehydration |
OMIM:203400 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Palpebral edema... |
OMIM:137940 |
| Congenital Disorder Of Glycosylation, Type If |
|
Death in infancy, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive |
OMIM:609180 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Dehydration |
ORPHA:79312 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Parakeratosis, Alopecia, Sparse eyelashes, Thick hair, Pruritus, Sparse eyebrow, Jaundice, Sparse... |
OMIM:607626 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Erythroderma, ... |
OMIM:615508 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Failure to thrive, Dehydration |
OMIM:264350 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Redundant skin, Abnormal hair pattern, Highly arched eyebrow, Prematurely... |
ORPHA:1807 |
| Congenital Short Bowel Syndrome |
|
Failure to thrive, Dehydration |
OMIM:615237 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:35710 |
| Acral Peeling Skin Syndrome |
|
Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin |
ORPHA:263534 |
| Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Eczema, Sparse medial eyebrow, Low anterior hairline... |
OMIM:601358 |
| Myoclonic-Astatic Epilepsy |
|
Premature skin wrinkling, Frontal balding |
ORPHA:1942 |
| Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
| Costello Syndrome |
|
Deep-set nails, Failure to thrive in infancy, Abnormal fingernail morphology, Polyhydramnios, Con... |
ORPHA:3071 |
| Autosomal Agammaglobulinemia |
|
Recurrent skin infections, Failure to thrive, Skin rash, Dehydration |
ORPHA:33110 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Prematurely aged appearance, Dry skin, Low posterior hairline, Premature ... |
ORPHA:2617 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Small for gestational age, Sparse facial hair, Sparse axillary hair, Progeroid facial appearance,... |
OMIM:608154 |
| Cardiofaciocutaneous Syndrome |
|
Brittle hair, Failure to thrive in infancy, Slow-growing hair, Redundant skin, Lymphedema, Abnorm... |
ORPHA:1340 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis, Telangiectasia, Telangiectasia of the skin, Lymphedema |
ORPHA:79279 |
| Insulin Autoimmune Syndrome |
|
Acanthosis nigricans, Weight loss |
ORPHA:411593 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Failure to thrive, Dehydration |
OMIM:177735 |
| Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion, Discoid lupus rash, Hyperkeratosis, Cutaneous photosensitivity, Vasculitis i... |
ORPHA:163525 |
| Chromomycosis |
|
Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparakeratosis, Hyperkerato... |
ORPHA:182 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Xerostomia,... |
OMIM:614941 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
| Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
| Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
| Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker... |
OMIM:601214 |
| Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Dehydration |
OMIM:212140 |
| Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Prematurely aged appearance, Telangiectasia of the skin, Premature gray... |
ORPHA:100 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Scleroderma, Premature ... |
ORPHA:363618 |
| Lipoid Proteinosis |
|
Acne, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp |
ORPHA:530 |
| Leopard Syndrome 3 |
|
Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Dry skin |
OMIM:613707 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Neonatal death, Death in infancy, Congenital ichthyosiform erythroderma, Failure to thrive |
OMIM:242500 |
| Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Hyperkeratosis, Alopecia, Fine hair |
ORPHA:1839 |
| Cog5-Cdg |
|
Abnormality of the frontal hairline, Premature skin wrinkling, Oligohydramnios |
ORPHA:263487 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin |
OMIM:618527 |
| Follicular Lymphoma |
|
Pleural effusion, Weight loss, Lymphedema |
ORPHA:545 |
| Propionic Acidemia |
|
Failure to thrive, Eczema, Dehydration |
OMIM:606054 |
| Acrokeratoelastoidosis Of Costa |
|
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis |
ORPHA:38 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Follicular hyperkeratosis |
OMIM:615147 |
| Fontaine Progeroid Syndrome |
|
Redundant skin, Synophrys, Low anterior hairline, Coarse hair, Neonatal death, Death in infancy, ... |
OMIM:612289 |
| Acute Myelomonocytic Leukemia |
|
Pallor, Weight loss |
ORPHA:517 |
| Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Failure to thrive, Curly hair |
OMIM:615279 |
| Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Dehydration |
ORPHA:556030 |
| Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
| Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Pustule, Paronychia, Erythema, Skin ulcer, We... |
ORPHA:37 |
| Galactose Epimerase Deficiency |
|
Jaundice, Weight loss |
ORPHA:79238 |
| Osteootohepatoenteric Syndrome |
|
Pruritus, Dehydration, Weight loss, Prolonged neonatal jaundice, Failure to thrive |
OMIM:619377 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Cachexia, Lymphedema, Hypoplastic toenails, Dystrophic ... |
ORPHA:2930 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
| Chronic Mucocutaneous Candidiasis |
|
Skin rash, Abnormal fingernail morphology, Pruritus, Erythema, Broad nail, Skin ulcer, Hyperkerat... |
ORPHA:1334 |
| Eosinophilic Fasciitis |
|
Muscular edema, Acrocyanosis, Edema, Weight loss |
ORPHA:3165 |
| Geroderma Osteodysplasticum |
|
Premature skin wrinkling, Neonatal wrinkled skin of hands and feet, Progeroid facial appearance, ... |
OMIM:231070 |
| Short Syndrome |
|
Premature skin wrinkling, Small for gestational age, Prominent superficial veins |
OMIM:269880 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Pruritus, Weight loss |
ORPHA:86893 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Bruising susceptibility, Follicular hyperkeratosis |
ORPHA:300179 |
| Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Premature graying of hair, Excessive wrinkled skin, Nail dystrophy, Generalize... |
ORPHA:3322 |
| Werner Syndrome |
|
Sparse scalp hair, Miscarriage, Prematurely aged appearance, Telangiectasia of the skin, Abnormal... |
ORPHA:902 |
| Secondary Short Bowel Syndrome |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:95427 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Brittle hair, Redundant skin, Abnormality of hair texture, Cutis laxa, Excessive wrinkled skin, C... |
OMIM:219200 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
| Congenital Tufting Enteropathy |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:92050 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Premature skin wrinkling, Cutis laxa, Dermal translucency |
OMIM:616603 |
| Beta-Ketothiolase Deficiency |
|
Weight loss, Pallor, Edema, Dehydration |
ORPHA:134 |
| Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Edema, Sparse eyebrow, Low posterior hairline, Telangiectasia,... |
OMIM:604173 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Cutis marmorata, Progeroid facial appearance, Sparse eyebrow, Re... |
OMIM:300953 |
| Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... |
OMIM:616468 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Ectodermal dysplasia, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperke... |
OMIM:615225 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:27 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Anonychia, Palmoplantar keratoderma, Nail dystrophy |
OMIM:616029 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
| Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Maculopapular exanthema, Supernumerary nipple, Erythema, Nail pits, Fine h... |
OMIM:308300 |
| Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Pustule, Erythema, Nail dystrophy |
OMIM:614204 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Dehydration |
OMIM:251000 |
| Adrenal Hypoplasia, Congenital |
|
Failure to thrive, Dehydration |
OMIM:300200 |
| Cystinosis |
|
Failure to thrive, Dehydration |
ORPHA:213 |
| Barber-Say Syndrome |
|
Dermal translucency, Absent nipple, Sparse eyelashes, Redundant skin, Sparse eyebrow, Low anterio... |
OMIM:209885 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Decreased adipose tissue around neck, Sma... |
OMIM:606721 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Failure to thrive, Dehydration |
OMIM:615453 |
| Gaucher Disease, Perinatal Lethal |
|
Decreased body weight, Nonimmune hydrops fetalis, Polyhydramnios, Hyperkeratosis, Congenital nonb... |
OMIM:608013 |
| Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
| Wolcott-Rallison Syndrome |
|
Jaundice, Ascites, Dehydration, Decreased body weight |
ORPHA:1667 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Pruritus, Palmoplantar keratoderma, Nail dystrophy, Folli... |
ORPHA:158668 |
| Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail d... |
OMIM:615726 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Absent pubic h... |
OMIM:148210 |
| Proteus Syndrome |
|
Hyperkeratosis |
OMIM:176920 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair |
ORPHA:1806 |
| Acquired Partial Lipodystrophy |
|
Generalized hirsutism, Progeroid facial appearance |
ORPHA:79087 |
| Thanatophoric Dysplasia Type 1 |
|
Redundant skin, Polyhydramnios, Increased nuchal translucency, Excessive wrinkled skin, Acanthosi... |
ORPHA:1860 |
| Stuve-Wiedemann Syndrome 1 |
|
Sparse hair, Death in infancy, Premature skin wrinkling, Oligohydramnios |
OMIM:601559 |
| Pachyonychia Congenita 2 |
|
Subungual hyperkeratosis, Dry hair, Sparse scalp hair, Sparse eyebrow, Palmoplantar hyperkeratosi... |
OMIM:167210 |
| Malignant Peritoneal Mesothelioma |
|
Ascites, Pedal edema, Weight loss |
ORPHA:168811 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Abnormal fingernail morphology, Pruritus, Anonychia, Palmoplantar keratoderma, Nail dystrophy, Sm... |
ORPHA:79410 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Failure to thrive, Polyhydramnios, Dehydration |
OMIM:214700 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer, Poor wound healing |
ORPHA:36386 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Redundant neck skin, Thick hair, Redundant skin, Abnormal subcutaneous fat tissue distribution, P... |
ORPHA:357074 |
| Microvillus Inclusion Disease |
|
Pruritus, Dehydration |
ORPHA:2290 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Cutis marmorata, Failure to thrive in infancy, Hyperkeratosis, Frontal upsweep of hair, Broad eye... |
OMIM:301220 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Dry skin, Hyperkeratosis, Peau d'orange, Failure to thrive |
OMIM:614576 |
| Pseudomyxoma Peritonei |
|
Ascites, Weight loss |
ORPHA:26790 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Acantholysis, Absent fingernail, Neonatal death, Anonychia, Alopecia universalis |
OMIM:609638 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Overweight, Dry skin, Follicular hyperkeratosis |
ORPHA:486815 |
| Short Syndrome |
|
Sparse hair, Excessive wrinkled skin, Alopecia, Weight loss |
ORPHA:3163 |
| Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Edema, Jaundice, Dehydration, Weight loss, Pallor |
ORPHA:20 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
| Thymic Carcinoma |
|
Palpebral edema, Edema, Weight loss |
ORPHA:99868 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Erythema, Hydrops fetalis, Dehydration, Pallor, Death in childhood, Fa... |
OMIM:557000 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Prominent superficial veins, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Fa... |
OMIM:612940 |
| Xfe Progeroid Syndrome |
|
Prematurely aged appearance, Cachexia, Dry skin, Death in adolescence, Ascites, Cutaneous photose... |
OMIM:610965 |
| Neonatal Lupus Erythematosus |
|
Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Cutaneous photosensitivity, Ma... |
ORPHA:398124 |
| Arthrogryposis Multiplex Congenita 5 |
|
Death in infancy, Premature skin wrinkling, Polyhydramnios |
OMIM:618947 |
| Familial Keratoacanthoma |
|
Hyperkeratosis, Skin ulcer |
ORPHA:493 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Pleural Mesothelioma |
|
Pleural effusion, Weight loss |
ORPHA:50251 |
| Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
| Fg Syndrome Type 1 |
|
Frontal upsweep of hair, Slender build, Facial wrinkling |
ORPHA:93932 |
| Poems Syndrome |
|
Edema, Pericardial effusion, Thickened skin, Abnormality of skin physiology, Leukonychia, Weight ... |
ORPHA:2905 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Hypertonic dehydration |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Hypertonic dehydration |
OMIM:304800 |
| Keppen-Lubinsky Syndrome |
|
Progeroid facial appearance, Premature skin wrinkling, Failure to thrive, Polyhydramnios |
ORPHA:435628 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Ectodermal dysplasia, Atrichia, Periungual erythema, Death in childhood,... |
OMIM:308205 |
| Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis, Sparse scalp hair |
ORPHA:2611 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Abnormal toenail morphology, Prematurely aged appearance, Low posterior hairline |
ORPHA:1387 |
| Cholera |
|
Palmoplantar cutis laxa, Miscarriage, Dehydration |
ORPHA:173 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Jaundice, Ichthy... |
ORPHA:59303 |
| Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Dehydration |
OMIM:251110 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Skin rash, Edema, Pruritus, Weight loss, Palmoplantar pustulosis |
ORPHA:324964 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Skin rash, Failure to thrive in infancy, Pustule, Joint swelling, Hyperkeratosis |
OMIM:612852 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Scaling skin |
ORPHA:454831 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Prominent superficial veins, Cutis laxa, Fine hair, Excessive wrinkled skin, Sparse hair, Dermal ... |
OMIM:614438 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Skin rash, Skin ulcer, Weight loss, Failure to t... |
ORPHA:47 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Failure to thrive, Hirsutism, Dehydration |
ORPHA:90791 |
| Donohue Syndrome |
|
Hyperkeratosis, Severe failure to thrive, Nail dysplasia, Acanthosis nigricans, Hypertrichosis |
OMIM:246200 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:281090 |
| Wilson Disease |
|
Pruritus, Jaundice, Increased body weight, Weight loss, Joint swelling, Failure to thrive, Bruisi... |
ORPHA:905 |
| Renal Hypoplasia |
|
Small for gestational age, Dehydration |
ORPHA:93101 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Weight loss, Eczema, Perioral eczema |
ORPHA:79242 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss, Pallor, Bruising susceptibility, Lymphedema |
ORPHA:3226 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Lip telangiectasia, An... |
ORPHA:79280 |
| Werner Syndrome |
|
Prematurely aged appearance, Progeroid facial appearance, Subcutaneous calcification, Scleroderma... |
OMIM:277700 |
| Nodular Non-Suppurative Panniculitis |
|
Erythema, Edema, Weight loss |
ORPHA:33577 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Dehydration, Oligohydramnios |
OMIM:263200 |
| Darier-White Disease |
|
Ridged nail, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratotic fragments |
OMIM:124200 |
| Campomelia, Cumming Type |
|
Death in infancy, Prematurely aged appearance, Lymphedema, Hydrops fetalis, Oligohydramnios |
ORPHA:1318 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Excessive wrinkled skin, Thick hair, Progeroid facial appearance |
ORPHA:357058 |
| Lysosomal Acid Lipase Deficiency |
|
Cachexia, Pruritus, Jaundice, Dehydration, Weight loss, Ascites, Failure to thrive |
ORPHA:275761 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Pruritus, Jaundice, Weight loss |
ORPHA:65682 |
| Alternating Hemiplegia Of Childhood |
|
Dehydration, Pallor, Thin eyebrow, Failure to thrive, Flushing |
ORPHA:2131 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis,... |
OMIM:607721 |
| Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism |
ORPHA:79431 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Alopecia, Small for gesta... |
OMIM:264090 |
| Polyarteritis Nodosa |
|
Erythema, Cutis marmorata, Skin ulcer, Weight loss |
ORPHA:767 |
| Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Death in infancy, Cachexia |
