Porokeratosis Of Mibelli |
|
Aplasia/Hypoplasia of the skin, Pruritus, Hyperkeratosis |
ORPHA:735 |
Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Erythematous papule, Sparse lateral eyebrow, Dermal atrophy, Dry skin, Fac... |
ORPHA:3406 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Skin erosion, Nevus, Dystrophic toenail, Failure to thrive, Atrophic scars, Milia, Palmoplantar h... |
ORPHA:89838 |
Diffuse Palmoplantar Keratoderma, Bothnian Type |
|
Papule, Erythema, Skin ulcer, Diffuse palmoplantar hyperkeratosis, Pruritus |
ORPHA:2337 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Recurrent cutaneous fungal infections, Papule, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:244850 |
Classic Mycosis Fungoides |
|
Erythema, Alopecia, Eczematoid dermatitis, Skin ulcer, Hypopigmented skin patches, Dry skin, Skin... |
ORPHA:2584 |
Hyperkeratosis Lenticularis Perstans |
|
Skin ulcer, Hyperkeratosis lenticularis perstans, Aplasia/Hypoplasia of the skin, Pruritus, Papule |
ORPHA:409 |
Aquagenic Palmoplantar Keratoderma |
|
Atopic dermatitis, Palmoplantar keratoderma, Edema, Orthokeratotic hyperkeratosis, White papule, ... |
ORPHA:498359 |
Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Erythema, Hypoplastic pilosebaceous units, Atrophic scars, Periauricular s... |
ORPHA:79100 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Erythema, Dystrophic toenail, Dermal atrophy, Milia, Erythematous plaque, Crusting erythematous d... |
ORPHA:158673 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Atrophic scars, Milia, Dermal atrophy, Nail dystrophy, Scarring, Skin plaque, Pruritus, Subcutane... |
ORPHA:89843 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Atrophic scars, Pruritus, Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Hypermelanotic macule, Plantar hyperkeratosis, Milia, Nail dystrophy, Hypomelanotic macule, Spott... |
ORPHA:79399 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis |
OMIM:146750 |
Chilblain Lupus |
|
Discoid lupus rash, Inflammatory abnormality of the skin, Erythematous papule, Skin ulcer, Malar ... |
ORPHA:90280 |
Lamellar Ichthyosis |
|
Dry skin, Lack of skin elasticity, Erythroderma, Aplasia/Hypoplasia of the eyebrow, Pruritus, Spa... |
ORPHA:313 |
Prolidase Deficiency |
|
Erythema, Palmoplantar keratoderma, Skin ulcer, Dry skin, White forelock, Low anterior hairline, ... |
ORPHA:742 |
Superficial Epidermolytic Ichthyosis |
|
Erythema, Palmoplantar keratoderma, Acantholysis, Edema, Thin skin |
ORPHA:455 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Palmoplantar keratoderma, Skin ulcer, Weight loss, Erythroderma, Hyperkeratosis |
ORPHA:312 |
Erythrokeratodermia Variabilis |
|
Erythema, Alopecia, Abnormal hair morphology, Dry skin, Patchy palmoplantar hyperkeratosis, Skin ... |
ORPHA:317 |
Lichen Planopilaris |
|
Alopecia, Skin ulcer, Hypopigmented skin patches, Dermal atrophy, Pruritus, Papule, Hyperkeratosis |
ORPHA:525 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Pruritus on foot, Erythematous papule, Eczematoid dermatitis, Urticarial plaque, Pruritis on brea... |
ORPHA:64745 |
Congenital Panfollicular Nevus |
|
Skin nodule, Hyperkeratosis, Verrucous papule |
ORPHA:139414 |
Reticular Dysgenesis |
|
Failure to thrive, Skin ulcer, Skin rash, Weight loss, Dehydration |
ORPHA:33355 |
Meige Disease |
|
Cellulitis, Predominantly lower limb lymphedema, Atypical scarring of skin, Skin erosion, Facial ... |
ORPHA:90186 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Long eyelashes, Pustule, Polyhydramnios, Papule, Dehydration |
OMIM:616069 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Nail dystrophy, Diffuse palmoplantar hyperkeratosis, Flexion contracture, Recurrent skin infectio... |
ORPHA:79503 |
Hypohidrotic Ectodermal Dysplasia |
|
Generalized hypopigmentation of hair, Xerostomia, Eczematoid dermatitis, Failure to thrive, Breas... |
ORPHA:238468 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Milia, Skin rash, Camptodactyly of finger, Thin skin |
ORPHA:1658 |
Acquired Ichthyosis |
|
Papule, Erythema, Palmoplantar keratoderma, Dry skin, Recurrent skin infections, Pruritus, Hyperk... |
ORPHA:454 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis, Macule |
OMIM:615537 |
Acrogeria |
|
Skin ulcer, Fine hair, Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Lipoatrophy, Thin... |
ORPHA:2500 |
Dracunculiasis |
|
Cellulitis, Skin ulcer, Skin rash, Subcutaneous nodule, Pruritus, Flexion contracture, Recurrent ... |
ORPHA:231 |
Dermoodontodysplasia |
|
Dry skin, Trichodysplasia, Thin skin |
OMIM:125640 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis |
OMIM:617571 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Failure to thrive, Oligohydramnios, Skin dimple, Aplasia/Hypoplasia of the eyebrow, Sparse hair, ... |
ORPHA:261304 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Acrokeratosis, Hyperkeratosis |
OMIM:101850 |
Chronic Hiccup |
|
Weight loss, Dehydration |
ORPHA:396 |
Harlequin Ichthyosis |
|
Erythroderma, Hyperkeratosis, Dehydration |
ORPHA:457 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Abnormal hair morphology, Erythematous plaque, Superficial dermal perivascular inflammatory infil... |
OMIM:618531 |
Pseudoprogeria Syndrome |
|
Alopecia, Sparse eyebrow, Failure to thrive, Decreased body weight, Absent eyelashes, Absent eyeb... |
ORPHA:2985 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse body hair, Sparse hair, Eczematoid dermatitis, Thin skin |
ORPHA:1810 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Dystrophic toenail, Sparse body hair, Dermal atrophy, Alopecia of scalp, Diffuse palmop... |
OMIM:617294 |
Necrobiosis Lipoidica |
|
Erythema, Indurated nodule, Inflammatory abnormality of the skin, Skin ulcer, Skin nodule, Atroph... |
ORPHA:542592 |
Darier Disease |
|
Plantar pits, Palmoplantar keratoderma, Abnormal hair morphology, Acrokeratosis, Skin vesicle, Su... |
ORPHA:218 |
Dermoodontodysplasia |
|
Sparse body hair, Dry skin, Melanocytic nevus, Trichodysplasia, Sparse scalp hair, Thin skin |
ORPHA:1660 |
Bazex Syndrome |
|
Yellow nails, Palmoplantar keratoderma, Nail dystrophy, Parakeratosis, Hyperkeratosis, Scaling sk... |
ORPHA:166113 |
Moynahan Syndrome |
|
Cachexia, Alopecia, Sparse hair, Hyperkeratosis |
ORPHA:2574 |
Netherton Syndrome |
|
Brittle scalp hair, Sparse eyebrow, Eczematoid dermatitis, Angioedema, Failure to thrive, Hyperna... |
OMIM:256500 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Atypical scarring of skin, Palmoplantar keratoderma, Alopecia totalis, Nail dystrophy, Lack of sk... |
ORPHA:1366 |
Hypotrichosis 6 |
|
Erythema, Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, ... |
OMIM:607903 |
Ichthyosis With Erythrokeratoderma |
|
Erythema, Palmoplantar keratoderma, Leukonychia, Diffuse palmoplantar hyperkeratosis, Parakeratos... |
OMIM:620507 |
Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Dehydration |
OMIM:610370 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Dehydration |
OMIM:601410 |
Combined Malonic And Methylmalonic Aciduria |
|
Failure to thrive, Dehydration |
OMIM:614265 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Pyoderma gangrenosum, Chronic furunculosis, Cutaneous abscess |
OMIM:619986 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Aplasia/Hypoplasia of the skin, Dermal atrophy, Macule |
ORPHA:1962 |
Familial Cold Urticaria |
|
Erythema, Pruritus, Dehydration |
ORPHA:47045 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Sparse scalp hair, Fine hair, Alopecia of scalp, Parakeratosis, Scaling skin, ... |
ORPHA:90368 |
Dowling-Degos Disease |
|
Palmar pits, Hyperkeratotic papule, Erythematous papule, Epidermoid cyst, Acne inversa, Hyperpigm... |
ORPHA:79145 |
Juvenile Hyaline Fibromatosis |
|
Skin ulcer, Abnormal hair morphology, Death in infancy, Aplasia/Hypoplasia of the skin, Progressi... |
ORPHA:2028 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
High anterior hairline, Dry skin, Medial flaring of the eyebrow, Sparse scalp hair, Thin skin |
OMIM:617364 |
Pemphigus Vulgaris |
|
Atypical scarring of skin, Urticarial plaque, Alopecia of scalp, Weight loss, Acantholysis, Recur... |
ORPHA:704 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Palmoplantar keratoderma, Sparse body hair, Atrophic scars, Milia, Nail dystrophy, Scarring alope... |
ORPHA:79402 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Small for gestational age, Dehydration, Umbilical hernia |
ORPHA:99886 |
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant |
|
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... |
OMIM:620150 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Purpura, Skin ulcer, Thin skin |
ORPHA:743 |
Hereditary Acrokeratotic Poikiloderma |
|
Erythema, Xerostomia, Skin ulcer, Hypopigmented skin patches, Eczematoid dermatitis, Camptodactyl... |
ORPHA:2907 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Camptodactyly of finger, Alopecia totalis, Dry skin, Nail dystrophy, Facial erythema, Palmoplanta... |
OMIM:212360 |
Netherton Syndrome |
|
Sparse eyebrow, Eczematoid dermatitis, Fine hair, Dehydration, Abnormal hair morphology, Trichorr... |
ORPHA:634 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atypical scarring of skin, Sparse eyebrow, Atrophic scars, Sparse eyelashes, Lipodystrophy, Cutis... |
ORPHA:75496 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Palmoplantar keratoderma, Premature graying of hair, Abnormal hair morphology, Reduced subcutaneo... |
ORPHA:1979 |
Familial Cervical Artery Dissection |
|
Abnormality of connective tissue, Striae distensae, Thin skin |
ORPHA:36382 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Death in infancy, Dehydration |
OMIM:251850 |
X-Linked Ehlers-Danlos Syndrome |
|
Hernia, Umbilical hernia, Inguinal hernia, Thin skin |
ORPHA:75497 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Striae distensae, Atypical scarring of skin, Petechiae, Thin skin |
OMIM:225310 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Joint contracture of the hand, Failure to thrive, Elbow flexion contracture, Death in childhood, ... |
OMIM:214150 |
Pemphigus Erythematosus |
|
Localized skin lesion, Skin erosion, Focal dermal aplasia/hypoplasia, Hypopigmented skin patches,... |
ORPHA:79480 |
Chilblain Lupus 1 |
|
Chilblains, Skin ulcer |
OMIM:610448 |
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Congenital absence of skin of limbs, Aplasia cutis congenita |
OMIM:600360 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Ascites, Weight loss, Palmoplantar keratoderma |
ORPHA:2198 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Sparse eyelashes, Abse... |
OMIM:602540 |
Premature Aging Syndrome, Penttinen Type |
|
Keloids, Failure to thrive, Dermal atrophy, Corneal stromal edema, Flexion contracture of finger,... |
OMIM:601812 |
Huriez Syndrome |
|
Aplasia/Hypoplasia of the skin, Palmoplantar keratoderma, Dry skin, Lack of skin elasticity |
ORPHA:384 |
Chromomycosis |
|
Hyperkeratotic papule, Atypical scarring of skin, Predominantly lower limb lymphedema, Hypopigmen... |
ORPHA:182 |
19Q13.11 Microdeletion Syndrome |
|
Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Failure to thrive, Dry skin, Sparse or a... |
ORPHA:217346 |
Chronic Mucocutaneous Candidiasis |
|
Papule, Erythema, Skin ulcer, Abnormal dental enamel morphology, Skin rash, Pruritus, Hyperkeratosis |
ORPHA:1334 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Stillbirth, Thin skin |
OMIM:259410 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Flexion contracture, Failure to thrive, Thin skin |
ORPHA:157965 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Acne inversa, Chronic furunculosis, Follicular hyperkeratosis, Perifolliculitis, Recurrent cutane... |
OMIM:613736 |
Arthrochalasia Ehlers-Danlos Syndrome |
|
Abnormality of subcutaneous fat tissue, Inguinal hernia, Scarring, Femoral hernia, Thin skin |
ORPHA:1899 |
Olmsted Syndrome 2 |
|
Alopecia universalis, Palmoplantar keratoderma, Perioral hyperkeratosis, Flexion contracture of d... |
OMIM:619208 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
Flynn-Aird Syndrome |
|
Dermal atrophy, Alopecia, Alopecia of scalp, Hyperkeratosis |
OMIM:136300 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Aplasia/Hypoplasia of the skin, Purpura, Thin skin |
ORPHA:745 |
Central Diabetes Insipidus |
|
Weight loss, Failure to thrive, Dehydration |
ORPHA:178029 |
Autosomal Agammaglobulinemia |
|
Cellulitis, Failure to thrive, Skin rash, Recurrent skin infections, Dehydration |
ORPHA:33110 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Abnormal sweat gland morphology, Alopecia, Predominantly lower limb lymphedema, Nonimmune hydrops... |
OMIM:607823 |
Pituitary Adenoma 4, Acth-Secreting |
|
Striae distensae, Obesity, Hirsutism, Ecchymosis, Facial erythema, Abdominal obesity, Purpura, Ed... |
OMIM:219090 |
Rapp-Hodgkin Syndrome |
|
Sparse hair, Sparse eyebrow, Palmoplantar keratoderma, Decreased number of sweat glands, Fine hai... |
OMIM:129400 |
Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele, Thin skin |
OMIM:613630 |
Combined Malonic And Methylmalonic Acidemia |
|
Failure to thrive, Dehydration |
ORPHA:289504 |
Familial Keratoacanthoma |
|
Subcutaneous nodule, Papule, Hyperkeratosis, Skin ulcer |
ORPHA:493 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Dermal atrophy, Scaling skin, Hyperkeratosis |
ORPHA:454831 |
Tooth Agenesis, Selective, 4 |
|
Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Sparse body hair, Dry skin, Dystrophic fin... |
OMIM:150400 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Erythema, Palmoplantar keratoderma, Leukonychia, Nail dystrophy, Parakeratosis, Pruritus, Woolly ... |
OMIM:615821 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Dehydration |
ORPHA:28 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Failure to thrive, Umbilical hernia, Inguinal hernia, Cutis laxa, Sparse hair, Thin skin |
OMIM:219150 |
Peeling Skin Syndrome 6 |
|
Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus |
OMIM:618084 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Failure to thrive, Dehydration |
OMIM:618958 |
Lichen Planus Pemphigoides |
|
Skin vesicle, Pruritus, Hyperkeratosis |
ORPHA:254478 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Cellulitis, Xanthomatosis, Generalized hirsutism, Aplasia/Hypoplasia of the skin, Lipodystrophy, ... |
ORPHA:2348 |
Subacute Cutaneous Lupus Erythematosus |
|
Discoid lupus rash, Dermal atrophy, Malar rash, Psoriasiform lesion, Hyperkeratosis, Annular cuta... |
ORPHA:163525 |
Psoriasis 2 |
|
Parakeratosis, Psoriasiform dermatitis, Hyperkeratosis, Scaling skin |
OMIM:602723 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Atopic dermatitis, Failure to thrive in infancy, Pustule, Weight loss, Dehydration |
ORPHA:171876 |
Adult Syndrome |
|
Absent nipple, Eczematoid dermatitis, Fair hair, Dermal atrophy, Breast hypoplasia, Dry skin, Alo... |
OMIM:103285 |
Intellectual Developmental Disorder, Fra12A Type |
|
Erythroderma, Hyperkeratosis |
OMIM:136630 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Palmoplantar keratoderma, Erythroderma, Orthokeratotic hyperkeratosis, Hyperkeratosis |
OMIM:615024 |
Xeroderma Pigmentosum |
|
Erythema, Alopecia, Hypopigmented skin patches, Failure to thrive, Dermal atrophy, Melanocytic ne... |
ORPHA:910 |
Pemphigus Foliaceus |
|
Erythema, Skin erosion, Psoriasiform dermatitis, Erythematous plaque, Crusting erythematous derma... |
ORPHA:79481 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Skin vesicle, Pruritus, Erythema migrans, Parakeratosis |
ORPHA:158681 |
Lymphatic Malformation 12 |
|
Fetal ascites, Lymphedema, Inguinal hernia, Nonimmune hydrops fetalis, Neonatal death, Death in a... |
OMIM:620014 |
Proliferating Trichilemmal Cyst |
|
Skin ulcer, Sparse scalp hair, Epidermoid cyst |
ORPHA:492 |
Hypercalcemia, Infantile, 1 |
|
Weight loss, Failure to thrive, Dehydration |
OMIM:143880 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Webbed neck, Joint contracture of the hand, Cigarette-paper scars, Camptodactyly of finger, Thin ... |
OMIM:612350 |
Bullous Pemphigoid |
|
Erythema, Eczematoid dermatitis, Psoriasiform dermatitis, Weight loss, Macule, Pruritus |
ORPHA:703 |
Kaposi Sarcoma |
|
Papule, Hypermelanotic macule, Lymphedema, Skin rash, Weight loss, Macule, Skin plaque, Skin nodule |
ORPHA:33276 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Aplasia Cutis Congenita |
|
Erythema, Skin ulcer, Aplasia cutis congenita, Aplasia cutis congenita over the scalp vertex, Con... |
ORPHA:1114 |
Short Syndrome |
|
Premature skin wrinkling, Absence of subcutaneous fat, Inguinal hernia, Reduced subcutaneous adip... |
OMIM:269880 |
Lymphatic Malformation 4 |
|
Cellulitis, Hyperkeratosis, Pedal edema, Lymphedema |
OMIM:615907 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Skin ulcer, Penetrating foot ulcers |
ORPHA:36386 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Atrophic scars, Inguinal hernia, Thin skin |
OMIM:225320 |
Olmsted Syndrome 1 |
|
Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa... |
OMIM:614594 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of facial adipose tissue, Xanthomatosis, Generalized hirsutism, Aplasia/Hypoplasia of the sk... |
ORPHA:79083 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Erythema, Skin erosion, Orthokeratosis, Hyperparakeratosis, Abnormal hair morphology, Erythematou... |
OMIM:607602 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyebrow, Folliculitis, Palmoplantar keratoderma, Dry skin, Nail dystrophy, Sparse eyelashe... |
OMIM:308800 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss, Dehydration, Edema |
ORPHA:103910 |
Noonan Syndrome 8 |
|
Webbed neck, Eczematoid dermatitis, Failure to thrive, Large for gestational age, Pleural effusio... |
OMIM:615355 |
Mandibuloacral Dysplasia |
|
Alopecia, Increased subcutaneous truncal adipose tissue, Contractures of the large joints, Increa... |
ORPHA:2457 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Fine hair, Supernumerary nipple, Abnormal dental enamel morphology, Dry skin, Inguinal hernia, Ap... |
ORPHA:1812 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Polyhydramnios, Flexion contracture, Aplasia cutis congenita, Neonatal death |
OMIM:612138 |
Silver-Russell Syndrome 2 |
|
Thin skin |
OMIM:618905 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Pruritus, Weight loss |
ORPHA:86893 |
Infantile Digital Fibromatosis |
|
Skin nodule, Parakeratosis, Hyperkeratosis |
ORPHA:199267 |
Propionic Acidemia |
|
Failure to thrive, Eczematoid dermatitis, Dehydration |
OMIM:606054 |
Isolated Agammaglobulinemia |
|
Cellulitis, Skin ulcer, Failure to thrive, Skin rash, Recurrent cutaneous abscess formation |
ORPHA:229717 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Dry skin, Leukonychia, Follicular hyperkeratosis, Punctate palmoplantar hyperkeratosis, Scaling s... |
OMIM:616295 |
Acrokeratosis Verruciformis Of Hopf |
|
Skin-colored papule, Leukonychia, Nail dystrophy, Punctate palmoplantar hyperkeratosis, Skin plaq... |
ORPHA:79151 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Death in adolescence, Failure to thrive, Death in childhood, Dehydration |
OMIM:560000 |
Osteogenesis Imperfecta, Type Ii |
|
Small for gestational age, Nonimmune hydrops fetalis, Thin skin |
OMIM:166210 |
Restrictive Dermopathy 1 |
|
Skin erosion, Sparse eyebrow, Short nail, Stillbirth, Epidermal hyperkeratosis, Oligohydramnios, ... |
OMIM:275210 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Dehydration |
ORPHA:79312 |
Werner Syndrome |
|
Abnormal hair whorl, Chondrocalcinosis, Skin ulcer, Premature graying of hair, Slender build, Whi... |
ORPHA:902 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Fine hair, Elbow flexion contracture, Inguinal hernia, Excessive wrinkled skin, Cutis laxa, Derma... |
OMIM:614438 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Sparse eyebrow, Absent nipple, Eczematoid dermatitis, Fine hair, Sparse body hair, Periorbital wr... |
OMIM:305100 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased adipose tissue around the neck, Premature graying of hair, Increased facial adipose tis... |
ORPHA:280365 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia universalis, Skin erosion, Alopecia totalis, Neonatal death, Aplasia cutis congenita, Ac... |
OMIM:609638 |
Adult Syndrome |
|
Alopecia, Absent nipple, Skin ulcer, Fine hair, Breast hypoplasia, Melanocytic nevus, Dry skin, H... |
ORPHA:978 |
Periventricular Nodular Heterotopia |
|
Hernia, Thin skin |
ORPHA:98892 |
Focal Dermal Hypoplasia |
|
Erythema, Alopecia, Camptodactyly of finger, Umbilical hernia, Dermal atrophy, Abnormal dental en... |
ORPHA:2092 |
Intestinal Dysmotility Syndrome |
|
Polyhydramnios, Weight loss, Failure to thrive |
OMIM:620045 |
X-Linked Agammaglobulinemia |
|
Cellulitis, Alopecia, Skin ulcer, Hypopigmented skin patches, Failure to thrive, Skin rash, Weigh... |
ORPHA:47 |
Focal Facial Dermal Dysplasia Type I |
|
Sparse lateral eyebrow, Atrophic scars, Low anterior hairline, Spotty hypopigmentation, Absent ey... |
ORPHA:79133 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Erythroderma, Scaling skin, Hy... |
OMIM:612281 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Webbed neck, Highly arched eyebrow, High anterior hairline, Coarse hair, Sparse lateral eyebrow, ... |
OMIM:617506 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczematoid dermatitis, Failure to thrive, Nail dystrophy, Erythroderma, Thin skin |
OMIM:615895 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Dehydration |
OMIM:602722 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Brit... |
OMIM:602400 |
Dermatofibrosarcoma Protuberans |
|
Erythema, Subcutaneous nodule, Skin ulcer |
ORPHA:31112 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Dehydration, Neonatal death |
OMIM:602199 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Nail d... |
ORPHA:79395 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Failure to thrive, Oligohydramnios, Death in infancy, Arthrogryposis multiplex congenita, Small f... |
OMIM:208085 |
Cushing Disease |
|
Pedal edema, Skin ulcer, Striae distensae, Dorsocervical fat pad, Hirsutism, Ecchymosis, Recurren... |
ORPHA:96253 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Dehydration |
OMIM:212140 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cellulitis, Elbow flexion contracture, Knee flexion contracture, Pyoderma gangrenosum, Cystic acn... |
OMIM:604416 |
Eosinophilic Fasciitis |
|
Cellulitis, Fasciitis, Muscular edema, Weight loss, Macule, Subcutaneous nodule, Edema |
ORPHA:3165 |
Warburg-Cinotti Syndrome |
|
Ankle flexion contracture, Erythema, Elbow flexion contracture, Joint swelling, Wrist flexion con... |
OMIM:618175 |
Osteootohepatoenteric Syndrome |
|
Pruritus, Weight loss, Failure to thrive, Dehydration |
OMIM:619377 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Abnormality of subcutaneous fat tissue, Inguinal hernia, Excessive wrinkled skin, Hernia, Hiatus ... |
ORPHA:1901 |
Acrokeratosis Verruciformis |
|
Verrucous papule, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis |
OMIM:101900 |
Prolidase Deficiency |
|
Eczematoid dermatitis, Skin ulcer, Failure to thrive, Facial hirsutism, Petechiae, Crusting eryth... |
OMIM:170100 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Inflammatory abnormality of the skin, Sparse eyebrow, Failure to thrive, Dry skin, Deat... |
OMIM:610768 |
Recon Progeroid Syndrome |
|
Dry skin, Hirsutism, Scaling skin, Absent lower eyelashes, Thin skin |
OMIM:620370 |
Milroy Disease |
|
Cellulitis, Predominantly lower limb lymphedema, Erysipelas, Lymphedema, Hyperkeratosis, Pedal edema |
ORPHA:79452 |
De Barsy Syndrome |
|
Failure to thrive, Umbilical hernia, Inguinal hernia, Excessive wrinkled skin, Lipodystrophy, Cut... |
ORPHA:2962 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hypopigmented skin patches, Multiple lentigines, Hyperkeratosis, Hypermelanotic macule, Cafe-au-l... |
OMIM:145250 |
Marshall-Smith Syndrome |
|
Generalized hirsutism, Failure to thrive, Thin skin |
ORPHA:561 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Erythema, Alopecia, Palmoplantar keratoderma, Skin ulcer, Skin fissure, Sparse hair |
ORPHA:659 |
Progressive Nodular Histiocytosis |
|
Cachexia, Subcutaneous nodule, Papule |
ORPHA:158022 |
Vohwinkel Syndrome, Variant Form |
|
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Abnormal hair morphology, Parakeratosis, H... |
OMIM:604117 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Failure to thrive, Dehydration |
OMIM:251120 |
Pyoderma Gangrenosum |
|
Skin ulcer, Atrophic scars, Pustule, Skin vesicle, Papule |
ORPHA:48104 |
Poikiloderma With Neutropenia |
|
Sparse eyebrow, Palmoplantar keratoderma, Sparse lateral eyebrow, Dermal atrophy, Skin rash, Nail... |
OMIM:604173 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Hyperkeratosis, Skin ulcer, Fine hair |
ORPHA:1806 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Striae distensae, Truncal obesity, Thin skin |
OMIM:219080 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Striae distensae, Truncal obesity, Thin skin |
OMIM:610475 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Skin erosion, Atrophic scars, Milia, Nail dystrophy, Aplasia cutis congenita |
ORPHA:79411 |
Follicular Lymphoma |
|
Skin nodule, Weight loss, Pleural effusion, Lymphedema |
ORPHA:545 |
Atypical Werner Syndrome |
|
Abnormal hair whorl, Alopecia, Chondrocalcinosis, Skin ulcer, Failure to thrive, Premature grayin... |
ORPHA:79474 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Thin skin |
ORPHA:230839 |
Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Failure to thrive, Atrophic scars, Milia, Nail dystrophy, Death in infancy, Enamel hypoplasia, Co... |
OMIM:226700 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Molluscoid pseudotumors, Inguinal hernia, Excessive wrinkled skin, Palmoplantar cutis laxa, Folli... |
OMIM:225400 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Cellulitis, Eczematoid dermatitis, Skin ulcer, Abnormal hair morphology, Skin rash, Skin vesicle,... |
ORPHA:2314 |
Stuve-Wiedemann Syndrome 1 |
|
Thin skin, Premature skin wrinkling, Elbow flexion contracture, Milia, Oligohydramnios, Knee flex... |
OMIM:601559 |
Congenital Short Bowel Syndrome |
|
Failure to thrive, Dehydration |
OMIM:615237 |
Flynn-Aird Syndrome |
|
Dermal atrophy, Alopecia, Cachexia, Skin ulcer |
ORPHA:2047 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Thin skin, Thin eyebrow, Upper eyelid edema, Cafe-au-lait spot, Widow's peak, Synophrys |
OMIM:617804 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Failure to thrive, Dehydration |
OMIM:264350 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Umbilical hernia, Atrophic scars, Inguinal hernia, Hiatus hernia, Palmoplantar cutis laxa, Thin skin |
OMIM:130080 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Alopecia, Breast aplasia, Dermal atrophy, Abnormal eyebrow morphology, Lack of skin elasticity, A... |
ORPHA:90153 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Failure to thrive, Pustule, Cachexia, Weight loss, Flexion ... |
ORPHA:77297 |
Nodular Non-Suppurative Panniculitis |
|
Erythema, Aplasia/Hypoplasia of the skin, Weight loss, Subcutaneous nodule, Panniculitis, Edema |
ORPHA:33577 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Palmoplantar keratoderma, Alopecia totalis, Parakeratosis, Palmoplantar... |
OMIM:300918 |
Peeling Skin Syndrome 4 |
|
Orthokeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling skin, Hyperkeratosis |
OMIM:607936 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Dehydration |
OMIM:203400 |
Familial Benign Chronic Pemphigus |
|
Erythema, Skin erosion, Skin vesicle, Acantholysis, Hyperkeratosis |
ORPHA:2841 |
Free Sialic Acid Storage Disease |
|
Ascites, Failure to thrive in infancy, Hydrops fetalis, Skin ulcer |
ORPHA:834 |
Glucose/Galactose Malabsorption |
|
Failure to thrive, Hypertonic dehydration |
OMIM:606824 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Dehydration |
OMIM:610600 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Parakeratosis, Erythroderma |
OMIM:604777 |
Microvillus Inclusion Disease |
|
Pruritus, Dehydration |
ORPHA:2290 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Atopic dermatitis, Recurrent bacterial skin infections, Skin ulcer |
ORPHA:217390 |
Calciphylaxis |
|
Cellulitis, Abnormality of skin physiology, Skin ulcer |
ORPHA:280062 |
Beta-Ketothiolase Deficiency |
|
Weight loss, Pallor, Dehydration, Edema |
ORPHA:134 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Skin rash, Palmoplantar pustulosis, Weight loss, Pruritus, Acne, Edema |
ORPHA:324964 |
Secondary Short Bowel Syndrome |
|
Weight loss, Failure to thrive, Dehydration |
ORPHA:95427 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Erythema, Orthokeratosis, Palmoplantar keratoderma, Leukonychia, Hyperkeratosis |
OMIM:617525 |
Dermatomyositis |
|
Cellulitis, Erythema, Alopecia, Chondrocalcinosis, Heliotrope rash, Skin ulcer, V-sign, Dry skin,... |
ORPHA:221 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Failure to thrive, Congenital diaphragmatic hernia, Medial flaring of the eyebrow, Camptodactyly,... |
OMIM:617602 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Acrodermatitis Enteropathica |
|
Erythema, Alopecia, Skin ulcer, Failure to thrive, Abnormal eyebrow morphology, Dry skin, Pustule... |
ORPHA:37 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:27 |
Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Failure to thrive, Dehydration |
OMIM:177735 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Pyoderma gangrenosum, Alopecia, Recurrent skin infections |
OMIM:616576 |
Glucose-Galactose Malabsorption |
|
Weight loss, Failure to thrive, Dehydration |
ORPHA:35710 |
Focal Facial Dermal Dysplasia Type Iii |
|
Highly arched eyebrow, Hypopigmented skin patches, Sparse lateral eyebrow, Redundant skin, Aplasi... |
ORPHA:1807 |
Geroderma Osteodysplastica |
|
Hernia, Redundant skin, Thin skin |
ORPHA:2078 |
Familial Multiple Nevi Flammei |
|
Skin ulcer, Hypermelanotic macule, Nevus flammeus, Papule, Edema |
ORPHA:624 |
Leishmaniasis |
|
Skin ulcer, Pallor, Weight loss, Skin plaque, Papule |
ORPHA:507 |
Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Ascites, Xanthelasma, Xanthomatosis, Cachexia, Weight loss, Pruritus, Dehydration |
ORPHA:275761 |
Aids Wasting Syndrome |
|
Cachexia, Weight loss |
ORPHA:90081 |
Lipodystrophy, Familial Partial, Type 7 |
|
Failure to thrive, Facial wrinkling, Dry skin, Decreased adipose tissue around neck, Absence of s... |
OMIM:606721 |
Papa Syndrome |
|
Pustule, Acne, Skin ulcer |
ORPHA:69126 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Erythematous papule, Skin ulcer, Erythematous plaque, Weight loss, Panniculitis |
ORPHA:86884 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Atrophic scars, Thick eyebrow, Inguinal hernia, Thin skin |
ORPHA:230851 |
Cystinosis |
|
Failure to thrive, Dehydration |
ORPHA:213 |
Congenital Tufting Enteropathy |
|
Weight loss, Failure to thrive, Dehydration |
ORPHA:92050 |
Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Dehydration |
ORPHA:556030 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Striae distensae, Truncal obesity, Thin skin |
OMIM:610489 |
Immunodeficiency 114, Folate-Responsive |
|
Atopic dermatitis, Skin ulcer |
OMIM:620603 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis, Hyperkeratosis |
OMIM:610227 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Abnormal hair morphology, Dermal atrophy, Generalized lipodystrophy, Nail dystrophy, Th... |
ORPHA:90154 |
Reynolds Syndrome |
|
Xerostomia, Skin ulcer, Ascites, Skin rash, Pruritus |
ORPHA:779 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse pubic hair, Sparse eyebrow, Xerostomia, Fair hair, Inguinal hernia, Sparse eyelashes, Spar... |
OMIM:129900 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Acral ulceration, Skin ulcer |
ORPHA:139578 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Thin skin |
OMIM:201170 |
Arterial Tortuosity Syndrome |
|
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Cutis laxa, Fl... |
OMIM:208050 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Dehydration |
OMIM:251000 |
Glass Syndrome |
|
Long eyelashes, Inguinal hernia, Camptodactyly, Sparse hair, Thin skin |
OMIM:612313 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Atypical scarring of skin, Thin skin, Umbilical hernia, Inguinal hernia, Follicular hyperkeratosi... |
ORPHA:536545 |
Classic Hodgkin Lymphoma |
|
Pruritus, Weight loss, Skin rash |
ORPHA:391 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Ablepharon Macrostomia Syndrome |
|
Fine hair, Camptodactyly of finger, Umbilical hernia, Breast hypoplasia, Dry skin, Redundant skin... |
ORPHA:920 |
Polyarteritis Nodosa |
|
Erythema, Subcutaneous nodule, Weight loss, Skin ulcer |
ORPHA:767 |
Acquired Purpura Fulminans |
|
Macular purpura, Skin rash, Macule, Pyoderma gangrenosum, Erythematous macule |
ORPHA:49566 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Fine hair, Premature graying of hair, Nail dystrophy, Dermal translucency, Sparse hair, Thin skin |
OMIM:612199 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Dentinogenesis imperfecta, Atrophic scars, Oligohydramnios, Multiple joint contractures, Dermal t... |
ORPHA:536467 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Atypical scarring of skin, Sparse pubic hair, Dystrophic toenail, Milia, Atro... |
ORPHA:251393 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pedal edema, Skin ulcer, Striae distensae, Dorsocervical fat pad, Peripheral edema, Hirsutism, Ec... |
ORPHA:99889 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Failure to thrive, Dehydration |
OMIM:615453 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Lymphedema, Elbow flexion contracture, Atrophic scars, Inguinal hernia, Multip... |
ORPHA:536471 |
Incontinentia Pigmenti |
|
Erythema, Alopecia, Skin ulcer, Hypopigmented skin patches, Supernumerary nipple, Abnormal hair m... |
ORPHA:464 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Weight loss, Pallor, Dehydration, Edema |
ORPHA:20 |
Even-Plus Syndrome |
|
Atopic dermatitis, Highly arched eyebrow, Oligohydramnios, Aplasia cutis congenita, Sparse hair, ... |
OMIM:616854 |
Multicentric Reticulohistiocytosis |
|
Skin nodule, Cachexia |
ORPHA:139436 |
Kaufman Oculocerebrofacial Syndrome |
|
Preauricular skin tag, Sparse eyebrow, Failure to thrive, Sparse hair, Thin skin |
OMIM:244450 |
Reactive Arthritis |
|
Joint swelling, Pustule, Dystrophic fingernails, Weight loss, Enthesitis, Hyperkeratosis |
ORPHA:29207 |
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
|
Nail dystrophy, Congenital localized absence of skin |
OMIM:132000 |
Limited Cutaneous Systemic Sclerosis |
|
Joint contracture of the hand, Foot joint contracture, Skin ulcer, Hypopigmented skin patches |
ORPHA:220402 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration, Failure to thrive |
OMIM:143860 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Death in childhood, Dehydration |
OMIM:246450 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Skin erosion, Alopecia, Failure to thrive, Dehydration, Pyoderma, Nail dystrophy, Aplasia cutis c... |
ORPHA:79404 |
Acute Myelomonocytic Leukemia |
|
Weight loss, Pallor |
ORPHA:517 |
Meier-Gorlin Syndrome 1 |
|
Joint contracture of the hand, Failure to thrive, Breast hypoplasia, Long eyelashes, Death in inf... |
OMIM:224690 |
Adrenal Hypoplasia, Congenital |
|
Failure to thrive, Dehydration |
OMIM:300200 |
Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Acne inversa, Panniculitis, Pyoderma gangrenosum, Cystic acne |
OMIM:608068 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Erythema, Alopecia, Palmoplantar keratoderma, Failure to thrive, Atrophic scars, Milia, Nail dyst... |
ORPHA:79396 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Fair hair, Edema, Umbilical hernia, Failure to thrive, Frontal upsweep of hair, Cutis laxa, Spars... |
OMIM:266920 |
Wolcott-Rallison Syndrome |
|
Ascites, Dehydration, Decreased body weight |
ORPHA:1667 |
Livedoid Vasculopathy |
|
Erythematous papule, Skin ulcer, Macular purpura, Atrophic scars, Superficial dermal perivascular... |
ORPHA:542643 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Erythema, Angioedema, Skin rash, Pustule, Weight loss, Erythroderma, Macule |
ORPHA:139402 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Premature graying of hair, Thin skin |
OMIM:112250 |
Pearson Marrow-Pancreas Syndrome |
|
Erythema, Failure to thrive, Pallor, Death in childhood, Hydrops fetalis, Small for gestational a... |
OMIM:557000 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Failure to thrive, Elbow flexion contracture, Inguinal hernia, Knee flexion contracture, Cutis la... |
OMIM:151050 |
Takayasu Arteritis |
|
Subcutaneous nodule, Weight loss, Skin ulcer |
ORPHA:3287 |
Juvenile Dermatomyositis |
|
Erythema, Alopecia, Skin ulcer, Dry skin, Skin rash, Weight loss, Palpebral edema, Pruritus |
ORPHA:93672 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Failure to thrive |
OMIM:612075 |
3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Flexion contracture, Dehydration |
OMIM:616271 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Arterial Tortuosity Syndrome |
|
Redundant skin, Inguinal hernia, Hiatus hernia, Femoral hernia, Thin skin |
ORPHA:3342 |
Pseudomyxoma Peritonei |
|
Hernia, Weight loss, Ascites |
ORPHA:26790 |
Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Alopecia, Weight loss, Eczematoid dermatitis |
ORPHA:79242 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
Progressive Hemifacial Atrophy |
|
Aplasia/Hypoplasia of the skin |
ORPHA:1214 |
Benign Recurrent Intrahepatic Cholestasis |
|
Pruritus, Weight loss |
ORPHA:65682 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Dystrophic toenail, Skin ulcer, Dystrophic fingernails |
ORPHA:1657 |
Ollier Disease |
|
Subcutaneous nodule, Skin ulcer |
ORPHA:296 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Alopecia, Sparse body hair, Ascites, Dermal atrophy, Pleural... |
ORPHA:69735 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Failure to thrive, Dehydration, Hirsutism |
ORPHA:90791 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Failure to thrive, Dehydration |
OMIM:214700 |
Brooke-Spiegler Syndrome |
|
Skin nodule, Skin-colored papule, Skin ulcer, Nodular changes affecting the eyelids |
ORPHA:79493 |
Eosinophilic Gastroenteritis |
|
Ascites, Atopic dermatitis, Weight loss, Edema |
ORPHA:2070 |
Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
Wilson Disease |
|
Failure to thrive, Joint swelling, Increased body weight, Weight loss, Pruritus |
ORPHA:905 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Flexion contracture, Cachexia, Death in infancy |
ORPHA:157973 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Thin skin |
ORPHA:449291 |
Toxic Epidermal Necrolysis |
|
Erythema, Skin ulcer, Weight loss, Macule, Acantholysis |
ORPHA:537 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Inguinal hernia, Thin skin |
ORPHA:2719 |
Ataxia-Telangiectasia |
|
Failure to thrive, Premature graying of hair, Aplasia/Hypoplasia of the skin, Multiple cafe-au-la... |
ORPHA:100 |
Alternating Hemiplegia Of Childhood |
|
Thin eyebrow, Pallor, Failure to thrive, Dehydration |
ORPHA:2131 |
Cholera |
|
Palmoplantar cutis laxa, Dehydration, Miscarriage |
ORPHA:173 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Xerostomia, Skin rash, Weight loss |
OMIM:617321 |
Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Dehydration |
OMIM:251110 |
Pleural Mesothelioma |
|
Weight loss, Pleural effusion |
ORPHA:50251 |
Methylmalonic Aciduria, Cbla Type |
|
Failure to thrive, Dehydration |
OMIM:251100 |
Dyskeratosis Congenita |
|
Sparse hair, Alopecia, Palmoplantar keratoderma, Skin ulcer, Hypopigmented skin patches, Prematur... |
ORPHA:1775 |
Poems Syndrome |
|
Abnormality of skin physiology, Hypertrichosis, Ascites, Leukonychia, Pleural effusion, Lipodystr... |
ORPHA:2905 |
Rothmund-Thomson Syndrome |
|
Facial edema, Sparse eyebrow, Abnormal dental enamel morphology, Alopecia totalis, Malar rash, Sk... |
ORPHA:2909 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Alopecia, Abnormal dental enamel morphology, Dermal atrophy, Aplasia/Hypoplasia of the skin, Skin... |
ORPHA:257 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Ascites, Dermal atrophy, Corneal scarring, Dry skin, Absence of subcutaneous f... |
OMIM:610965 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Oligohydramnios, Dehydration, Neonatal death |
OMIM:263200 |
Sweet Syndrome |
|
Erythematous papule, Acne inversa, Predominantly dermal neutrophilic infiltrate, Erythematous pla... |
ORPHA:3243 |
Stiff Skin Syndrome |
|
Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Lipoatrophy, Lack of skin elasticity |
ORPHA:2833 |
Kindler Epidermolysis Bullosa |
|
Erythema, Atypical scarring of skin, Palmoplantar keratoderma, Camptodactyly of finger, Abnormal ... |
ORPHA:2908 |
Fusariosis |
|
Cellulitis, Skin ulcer, Fasciitis, Pleural effusion, Panniculitis, Maculopapular exanthema, Subcu... |
ORPHA:228119 |
Renal Hypoplasia |
|
Small for gestational age, Dehydration |
ORPHA:93101 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse eyebrow, Alopecia, Failure to thrive, Premature skin wrinkling, Dry skin, Alopecia of scal... |
OMIM:264090 |
Kikuchi-Fujimoto Disease |
|
Erythema, Skin erosion, Alopecia, Skin nodule, Palpebral edema, Malar rash, Pleural effusion, Ski... |
ORPHA:50918 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Cellulitis, Chylothorax, Erysipelas, Skin ulcer, Lymphedema, Abnormal hair morphology, Dry skin, ... |
ORPHA:2526 |
Wiedemann-Rautenstrauch Syndrome |
|
Sparse hair, Increased subcutaneous truncal adipose tissue, Failure to thrive, Camptodactyly of f... |
ORPHA:3455 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Cachexia, Polyhydramnios, Limb joint contracture, Flexion contracture, Arthrogryp... |
OMIM:618186 |
Cronkhite-Canada Syndrome |
|
Alopecia, Dystrophic toenail, Sparse body hair, Lymphedema, Dystrophic fingernails, Patchy alopec... |
ORPHA:2930 |
Immunoglobulin A Vasculitis |
|
Erythema, Skin ulcer, Angioedema, Skin rash, Pustule, Macule, Purpura, Edema |
ORPHA:761 |
Vipoma |
|
Erythema, Subcutaneous lipoma, Ascites, Weight loss, Dehydration |
ORPHA:97282 |
Oculocerebrorenal Syndrome Of Lowe |
|
Atypical scarring of skin, Skin ulcer, Fine hair, Umbilical hernia, Abnormal dental enamel morpho... |
ORPHA:534 |
Oligomeganephronia |
|
Small for gestational age, Congenital diaphragmatic hernia, Dehydration |
ORPHA:2260 |
Aggressive Systemic Mastocytosis |
|
Ascites, Pruritus, Maculopapular exanthema, Weight loss |
ORPHA:98850 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Weight loss, Lower-limb joint contracture, Arthrogryposis multiplex congenita,... |
ORPHA:99885 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin ulcer, Skin rash, Pruritus, Subcutaneous nodule, Papule |
ORPHA:556 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Pyoderma gangrenosum, Chronic oral candidiasis |
OMIM:150550 |
Ablepharon-Macrostomia Syndrome |
|
Premature skin wrinkling, Dry skin, Redundant skin, Absent eyelashes, Ventral hernia, Hypoplastic... |
OMIM:200110 |
Infantile Myofibromatosis |
|
Abnormal hair morphology, Subcutaneous nodule, Chondrocalcinosis, Skin ulcer |
ORPHA:2591 |
Shigellosis |
|
Failure to thrive in infancy, Purpura, Dehydration |
ORPHA:810 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Hypertonic dehydration |
OMIM:125800 |
Helsmoortel-Van Der Aa Syndrome |
|
High anterior hairline, Failure to thrive, Obesity, Truncal obesity, Thin skin |
OMIM:615873 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Weight loss, Pleural effusion |
ORPHA:2902 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Hypertonic dehydration |
OMIM:304800 |
Kosaki Overgrowth Syndrome |
|
Xanthelasma, Thin skin |
OMIM:616592 |
Christianson Syndrome |
|
Cachexia, Thick eyebrow, Arthrogryposis multiplex congenita, Death in early adulthood |
ORPHA:85278 |
Chronic Granulomatous Disease |
|
Eczematoid dermatitis, Hypermelanotic macule, Skin ulcer, Macule |
ORPHA:379 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hernia, Weight loss, Failure to thrive, Redundant neck skin |
ORPHA:1842 |
Infantile Systemic Hyalinosis |
|
Skin ulcer, Failure to thrive, Lymphedema, Camptodactyly of finger, Subcutaneous nodule |
ORPHA:2176 |
Thymic Carcinoma |
|
Palpebral edema, Weight loss, Edema |
ORPHA:99868 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss, Pallor, Lymphedema |
ORPHA:3226 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Alopecia universalis, Palmoplantar keratoderma, Failure to thrive, Chapped lip, Recurrent skin in... |
ORPHA:158668 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Highly arched eyebrow, Congenital diaphragmatic hernia, Nail dystrophy, Aplasia cutis congenita, ... |
OMIM:300887 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Blau Syndrome |
|
Eczematoid dermatitis, Skin ulcer, Camptodactyly of finger, Joint swelling, Cystoid macular edema... |
OMIM:186580 |
Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Xp22.3 Microdeletion Syndrome |
|
Aplasia/Hypoplasia of the skin, Sacral dimple |
ORPHA:1643 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Generalized hirsutism, Skin ulcer |
ORPHA:2218 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Frontal balding, Failure to thrive, Hirsutism, Weight loss, Acne, Dehydration, Miscarriage |
ORPHA:90794 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Leprosy |
|
Alopecia, Penetrating foot ulcers, Hypopigmented macule, Urticarial plaque, Sparse body hair, Acr... |
ORPHA:548 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Pyoderma gangrenosum, Recurrent skin infections, Cellulitis |
ORPHA:486 |
Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Weight loss, Hypopigmentation of hair |
ORPHA:2221 |
Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta, Thin skin |
OMIM:166200 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Ascites, Dry skin, Chilblains, Weight loss, Pericardial effusion, Edema |
OMIM:619487 |
Malignant Peritoneal Mesothelioma |
|
Ascites, Weight loss, Pedal edema |
ORPHA:168811 |
Dend Syndrome |
|
Dehydration |
ORPHA:79134 |
Microscopic Polyangiitis |
|
Skin rash, Erythema, Subcutaneous nodule, Skin ulcer |
ORPHA:727 |
Adult-Onset Still Disease |
|
Erythema, Joint swelling, Skin rash, Weight loss, Pruritus |
ORPHA:829 |
Eec Syndrome |
|
Sparse eyebrow, Coarse hair, Xerostomia, Nevus, Fine hair, Abnormal dental enamel morphology, Dry... |
ORPHA:1896 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Hypopigmented skin patches, Skin rash, Weight loss, Subcutaneous nodule, Papule, Purpura |
ORPHA:183 |
Microsporidiosis |
|
Skin nodule, Cachexia, Weight loss, Dehydration |
ORPHA:2552 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Hermansky-Pudlak Syndrome |
|
Abnormal dental enamel morphology, Long eyelashes, Melanocytic nevus, Weight loss, Hypopigmentati... |
ORPHA:79430 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrops fetalis, Failure to thrive, Dehydration |
ORPHA:79282 |
Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
Acrofacial Dysostosis, Palagonia Type |
|
Sparse lateral eyebrow, Dermal atrophy, Thin eyebrow, Low anterior hairline, Sparse eyelashes, Ap... |
ORPHA:1787 |
Stevens-Johnson Syndrome |
|
Erythema, Acantholysis, Weight loss, Macule |
ORPHA:36426 |
Rhabdoid Tumor |
|
Subcutaneous nodule, Weight loss |
ORPHA:69077 |
Colchicine Poisoning |
|
Alopecia, Dehydration |
ORPHA:31824 |
Mcdonough Syndrome |
|
Cachexia, Synophrys |
ORPHA:2471 |
Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Dehydration |
ORPHA:3008 |
Chime Syndrome |
|
Erythema, Skin ulcer, Fine hair, Sparse hair, Hyperkeratosis |
ORPHA:3474 |
Renpenning Syndrome |
|
Thin eyebrow, Alopecia, Cachexia, Abnormal hairshaft morphology |
ORPHA:3242 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Pgm3-Cdg |
|
Atopic dermatitis, Eczematoid dermatitis, Skin ulcer, Cutaneous abscess, Failure to thrive, Recur... |
ORPHA:443811 |
Dopamine Beta-Hydroxylase Deficiency |
|
Dehydration |
ORPHA:230 |
Systemic Sclerosis |
|
Alopecia, Digital ulcer, Acral ulceration, Joint swelling, Spotty hypopigmentation, Cutaneous scl... |
ORPHA:90291 |
Short Syndrome |
|
Alopecia, Abnormal dental enamel morphology, Inguinal hernia, Excessive wrinkled skin, Lipodystro... |
ORPHA:3163 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Weight loss, Pleural effusion |
ORPHA:411703 |
Osteosarcoma |
|
Weight loss, Joint swelling |
ORPHA:668 |
Pneumocystosis |
|
Weight loss, Pleural effusion, Chronic oral candidiasis |
ORPHA:723 |
Hereditary Spherocytosis |
|
Maculopapular exanthema, Pallor, Skin ulcer |
ORPHA:822 |
Pearson Syndrome |
|
Corneal stromal edema, Hydrops fetalis, Cafe-au-lait spot, Small for gestational age, Dehydration |
ORPHA:699 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Non-Functioning Paraganglioma |
|
Weight loss, Pallor |
ORPHA:94080 |
Cystinosis, Nephropathic |
|
Failure to thrive, Failure to thrive in infancy, Weight loss, Hypopigmentation of hair, Dehydration |
OMIM:219800 |
Alexander Disease Type I |
|
Cachexia, Failure to thrive |
ORPHA:363717 |
Desmoplastic Small Round Cell Tumor |
|
Ascites, Cachexia, Weight loss |
ORPHA:83469 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Oligohydramnios, Aplasia cutis congenita, Low anterior hairline |
OMIM:614219 |
Lymphoid Interstitial Pneumonia |
|
Eczematoid dermatitis, Failure to thrive, Abnormality of connective tissue, Skin rash, Weight loss |
ORPHA:79128 |
Infantile Nephropathic Cystinosis |
|
Failure to thrive, Dehydration |
ORPHA:411629 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Dermal atrophy, Cachexia, Skin rash, Dry skin |
ORPHA:220295 |
Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss, Knee flexion contracture |
ORPHA:3208 |
Familial Thrombocytosis |
|
Pruritus, Weight loss, Miscarriage |
ORPHA:71493 |
Bartter Syndrome Type 4 |
|
Failure to thrive, Severe failure to thrive, Polyhydramnios, Small for gestational age, Dehydration |
ORPHA:89938 |
Adams-Oliver Syndrome |
|
Alopecia, Failure to thrive, Ascites, Aplasia/Hypoplasia of the skin, Aplasia cutis congenita, Sp... |
ORPHA:974 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Polyhydramnios, Cachexia, Camptodactyly of finger |
ORPHA:2774 |
Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
Mhc Class I Deficiency 1 |
|
Skin ulcer |
OMIM:604571 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Failure to thrive, Dehydration |
ORPHA:168558 |
Huntington Disease |
|
Weight loss, Decreased body mass index |
ORPHA:399 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Failure to thrive, Dehydration |
ORPHA:289548 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia, Hip contracture |
OMIM:616801 |
Liposarcoma |
|
Subcutaneous nodule, Weight loss |
ORPHA:69078 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Dry skin, Death in childhood, Neonatal death, Absent eyelashes, Erythroderma, Absent eyebrow, Fol... |
OMIM:308205 |
Peripheral Primitive Neuroectodermal Tumor |
|
Ascites, Pruritus, Weight loss |
ORPHA:370348 |
Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
Barber-Say Syndrome |
|
Failure to thrive, Breast aplasia, Sparse or absent eyelashes, Redundant skin, Generalized hirsut... |
ORPHA:1231 |
Primary Intestinal Lymphangiectasia |
|
Generalized edema, Ascites, Pleural effusion, Weight loss, Pericardial effusion, Edema |
ORPHA:90362 |
Diffuse Cutaneous Systemic Sclerosis |
|
Flexion contracture, Xerostomia, Skin ulcer |
ORPHA:220393 |
Acute Monoblastic/Monocytic Leukemia |
|
Periorbital edema, Subcutaneous nodule, Weight loss |
ORPHA:514 |
Cryoglobulinemic Vasculitis |
|
Petechiae, Purpura, Skin ulcer |
ORPHA:91138 |
Rat-Bite Fever |
|
Morbilliform rash, Skin rash, Pustule, Weight loss, Erythema nodosum, Scaling skin, Maculopapular... |
ORPHA:31205 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Aplasia cutis congenita of scalp, Skin erosion, Atrophic scars, Milia, Nail dystrophy, Scarring a... |
ORPHA:158684 |
Neuroleptic Malignant Syndrome |
|
Dehydration |
ORPHA:94093 |
Gm1 Gangliosidosis |
|
Failure to thrive, Camptodactyly of finger, Inguinal hernia, Hirsutism, Generalized hirsutism, We... |
ORPHA:354 |
Multiple Endocrine Neoplasia Type 1 |
|
Confetti-like hypopigmented macules, Large cafe-au-lait macules with irregular margins, Multiple ... |
ORPHA:652 |
Bartter Syndrome, Type 1, Antenatal |
|
Chondrocalcinosis, Failure to thrive, Polyhydramnios, Small for gestational age, Dehydration |
OMIM:601678 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Eczematoid dermatitis, Skin ulcer, Urticarial plaque, Skin rash, Erythema nodosum, Panniculitis, ... |
OMIM:615688 |
Giant Cell Arteritis |
|
Alopecia, Weight loss, Skin ulcer |
ORPHA:397 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Atypical scarring of skin, Skin erosion, Nevus, Failure to thrive, Milia, Decreased body weight, ... |
ORPHA:89842 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Dermal atrophy, Lack of skin elasticity, Lipodystrophy, Loss of subcutaneous adipose tissue in li... |
OMIM:615381 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Weight loss |
ORPHA:298 |
Distal Renal Tubular Acidosis |
|
Failure to thrive, Dehydration |
ORPHA:18 |
Xeroderma Pigmentosum Variant |
|
Dermal atrophy, Dry skin |
ORPHA:90342 |
Systemic Capillary Leak Syndrome |
|
Pulmonary edema, Weight loss, Pleural effusion, Pedal edema |
ORPHA:188 |
Wild Type Attr Amyloidosis |
|
Pulmonary edema, Weight loss, Pleural effusion, Pedal edema |
ORPHA:330001 |
Marburg Hemorrhagic Fever |
|
Petechiae, Maculopapular exanthema, Skin rash, Dehydration |
ORPHA:99826 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Dermal atrophy, Generalized lipodystrophy, Decreased adipose tissue around neck, Loss o... |
OMIM:608612 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Eczematoid dermatitis, Failure to thrive, Weight loss, Enamel hypoplasia |
OMIM:212750 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Oculocerebrocutaneous Syndrome |
|
Preauricular skin tag, Alopecia, Hypopigmented skin patches, Skin tags, Congenital diaphragmatic ... |
ORPHA:1647 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Polyhydramnios, Failure to thrive |
ORPHA:223 |
Juvenile Nephropathic Cystinosis |
|
Failure to thrive, Dehydration |
ORPHA:411634 |
Bartter Syndrome, Type 3 |
|
Dehydration |
OMIM:607364 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Trichiasis, Atypical scarring of skin, Inflammatory abnormality of the skin, Xerostomia, Skin ulc... |
ORPHA:95455 |
Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Palm... |
OMIM:604536 |
Primary Myelofibrosis |
|
Pallor, Petechiae, Ecchymosis, Cachexia, Purpura |
ORPHA:824 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Hoyeraal-Hreidarsson Syndrome |
|
Generalized hypopigmentation of hair, Failure to thrive, Premature graying of hair, Dermal atroph... |
ORPHA:3322 |
Loeys-Dietz Syndrome |
|
Striae distensae, Atypical scarring of skin, Camptodactyly of finger, Thin skin |
ORPHA:60030 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Aredyld Syndrome |
|
Sparse body hair, Abnormal dental enamel morphology, Cachexia, Aplasia/Hypoplasia of the eyebrow,... |
ORPHA:1133 |
Bartter Syndrome, Type 2, Antenatal |
|
Chondrocalcinosis, Failure to thrive, Polyhydramnios, Small for gestational age, Dehydration |
OMIM:241200 |
Refractory Celiac Disease |
|
Inflammatory abnormality of the skin, Weight loss |
ORPHA:398063 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Skin ulcer |
OMIM:613640 |
Vascular Ehlers-Danlos Syndrome |
|
Dermal translucency, Alopecia, Cigarette-paper scars, Umbilical hernia, Melanocytic nevus, Cystoc... |
ORPHA:286 |
Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
Hypermobile Ehlers-Danlos Syndrome |
|
Atypical scarring of skin, Umbilical hernia, Striae distensae, Cystocele, Inguinal hernia, Subcut... |
ORPHA:285 |
Tetrasomy 12P |
|
Cachexia, Sparse eyebrow, Sparse hair |
ORPHA:884 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Oligohydramnios, Dehydration, Umbilical hernia |
ORPHA:96191 |
Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Skin ulcer, Pustule, Cerebral edema, Subcutaneous nodule, Papule |
ORPHA:68 |
Disabling Pansclerotic Morphea Of Childhood |
|
Skin ulcer, Joint contracture |
OMIM:620443 |
Granulomatosis With Polyangiitis |
|
Skin ulcer, Skin rash, Weight loss, Periorbital edema, Papule, Purpura |
ORPHA:900 |
Restrictive Dermopathy |
|
Webbed neck, Skin erosion, Sparse eyebrow, Short nail, Camptodactyly of finger, Generalized hyper... |
ORPHA:1662 |
Rothmund-Thomson Syndrome Type 1 |
|
Facial edema, Abnormal dental enamel morphology, Dermal atrophy, Alopecia totalis, Sparse or abse... |
ORPHA:221008 |
Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Adrenocortical Carcinoma |
|
Increased body weight, Striae distensae, Weight loss, Hypertrichosis |
ORPHA:1501 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424019 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Acral ulceration |
OMIM:613115 |
Rothmund-Thomson Syndrome Type 2 |
|
Facial edema, Erythema, Abnormal dental enamel morphology, Dermal atrophy, Alopecia totalis, Spar... |
ORPHA:221016 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pruritus, Pallor, Weight loss |
ORPHA:98849 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Dehydration |
ORPHA:90038 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Elbow flexion contracture, Knee flexion contracture, Hip contracture, Severe failure to thrive, C... |
ORPHA:371364 |
Ménétrier Disease |
|
Peripheral edema, Weight loss |
ORPHA:2494 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Generalized hirsutism, Cachexia |
ORPHA:1933 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Failure to thrive in infan... |
ORPHA:37042 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Malignant Atrophic Papulosis |
|
Dermal atrophy, Papule, Pleural effusion, Weight loss |
ORPHA:679 |
Attenuated Chédiak-Higashi Syndrome |
|
Skin ulcer |
ORPHA:352723 |
Wolman Disease |
|
Ascites, Cachexia |
ORPHA:75233 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss, Dehydration |
ORPHA:3337 |
Chronic Graft Versus Host Disease |
|
Erythema, Alopecia, Xerostomia, Skin ulcer, Fasciitis, Ascites, Pleural effusion, Nail dystrophy,... |
ORPHA:99921 |
Felty Syndrome |
|
Cellulitis, Subcutaneous nodule, Weight loss |
ORPHA:47612 |
Hyperoxaluria, Primary, Type I |
|
Dehydration |
OMIM:259900 |
Caroli Disease |
|
Ascites, Pruritus, Weight loss |
ORPHA:53035 |
Graves Disease |
|
Weight loss |
OMIM:275000 |
Rheumatoid Arthritis |
|
Weight loss, Joint swelling |
OMIM:180300 |
Proximal Renal Tubular Acidosis |
|
Enamel hypomineralization, Failure to thrive, Dehydration |
ORPHA:47159 |
Catastrophic Antiphospholipid Syndrome |
|
Skin ulcer, Miscarriage |
ORPHA:464343 |
Blau Syndrome |
|
Erythema, Xerostomia, Skin ulcer, Camptodactyly of finger, Dry skin, Skin rash, Joint swelling, E... |
ORPHA:90340 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Webbed neck, Nevus, Failure to thrive, Camptodactyly of finger, Umbilical hernia, Inguinal hernia... |
ORPHA:2990 |
Q Fever |
|
Pleural effusion, Weight loss, Pericardial effusion, Maculopapular exanthema, Purpura |
ORPHA:781 |
Glucagonoma |
|
Subcutaneous lipoma, Ascites, Necrolytic migratory erythema, Skin rash, Weight loss, Pruritus |
ORPHA:97280 |
Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, Pallor, Skin ulcer |
ORPHA:231226 |
Erdheim-Chester Disease |
|
Xanthelasma, Pleural effusion, Joint swelling, Skin rash, Weight loss |
ORPHA:35687 |
Cystic Fibrosis |
|
Failure to thrive, Dehydration |
OMIM:219700 |
Leukocyte Adhesion Deficiency, Type I |
|
Chronic mucocutaneous candidiasis, Skin ulcer |
OMIM:116920 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Cachexia |
ORPHA:42 |
Hajdu-Cheney Syndrome |
|
Coarse hair, Skin ulcer, Failure to thrive, Umbilical hernia, Dry skin, Thick eyebrow, Inguinal h... |
ORPHA:955 |
Igg4-Related Retroperitoneal Fibrosis |
|
Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Weight loss, Pedal edema |
ORPHA:49041 |
Pyomyositis |
|
Subcutaneous nodule, Weight loss, Recurrent cutaneous abscess formation |
ORPHA:764 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cachexia, Xerostomia, Nail dystrophy |
OMIM:175500 |
Curry-Jones Syndrome |
|
Generalized hirsutism, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches |
ORPHA:1553 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Ascites, Weight loss, Erythematous plaque |
ORPHA:100085 |
Acute Promyelocytic Leukemia |
|
Weight loss, Purpura, Petechiae, Ecchymosis |
ORPHA:520 |
Neuroblastoma, Susceptibility To, 1 |
|
Skin nodule, Weight loss, Failure to thrive |
OMIM:256700 |
Lyme Disease |
|
Skin nodule, Dermal atrophy, Joint swelling |
ORPHA:91546 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Insulin-Resistance Syndrome Type B |
|
Alopecia, Abnormality of body weight, Skin rash, Decreased body weight, Increased body weight, Hi... |
ORPHA:2298 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Acral ulceration |
OMIM:162400 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Aicardi-Goutieres Syndrome 7 |
|
Atopic dermatitis, Oligohydramnios, Skin rash, Chilblains, Weight loss, Pericardial effusion, Edema |
OMIM:615846 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nail dystrophy, Aplasia cutis congenita, Enamel hypoplasia, Polyhydramnios, Recurrent skin infect... |
ORPHA:79403 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Nevus, Lymphedema, Cachexia, Multiple cafe-au-lait spots, Lipoma, Subcutaneous nodule |
ORPHA:109 |
De Sanctis-Cacchione Syndrome |
|
Dermal atrophy, Hypermelanotic macule, Parakeratosis |
OMIM:278800 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Simple Cryoglobulinemia |
|
Localized skin lesion, Weight loss, Purpura, Acral ulceration |
ORPHA:91139 |
Beta-Thalassemia Intermedia |
|
Pallor, Skin ulcer |
ORPHA:231222 |
Neuroblastoma |
|
Subcutaneous nodule, Anemic pallor, Weight loss |
ORPHA:635 |
Polycythemia Vera |
|
Pruritus, Weight loss |
ORPHA:729 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Obesity, Shoulder dimple, Cachexia, Cafe-au-lait spot |
ORPHA:813 |
Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Amelogenesis imperfecta, Nail dystrophy, Enamel hypoplasia, Skin ulcer |
OMIM:245660 |
Granulomatosis With Polyangiitis |
|
Weight loss, Skin ulcer |
OMIM:608710 |
Beta-Thalassemia Major |
|
Failure to thrive in infancy, Pallor, Skin ulcer |
ORPHA:231214 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
Plague |
|
Localized skin lesion, Skin ulcer, Chapped lip, Dry skin, Skin rash, Carbuncle, Erythema nodosum,... |
ORPHA:707 |
Immunodeficiency 31C |
|
Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Weight loss, Recurrent vulvovaginal can... |
OMIM:614162 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Weight loss, Joint swelling |
ORPHA:465508 |
Budd-Chiari Syndrome |
|
Ascites, Weight loss |
ORPHA:131 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Imerslund-Gräsbeck Syndrome |
|
Weight loss, Pallor, Failure to thrive |
ORPHA:35858 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Sparse eyebrow, Sparse scalp hair, Hypoplastic pilosebaceous units, Sparse eyelashes, Hypoplastic... |
OMIM:601345 |
Wiskott-Aldrich Syndrome |
|
Petechiae, Eczematoid dermatitis, Purpura, Skin ulcer |
ORPHA:906 |
Alveolar Echinococcosis |
|
Weight loss, Cutaneous abscess, Pedal edema |
ORPHA:284 |
Anaplastic Thyroid Carcinoma |
|
Weight loss |
ORPHA:142 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Cutis Marmorata Telangiectatica Congenita |
|
Skin erosion, Ascites, Aplasia/Hypoplasia of the skin, Blue nevus, Multiple cafe-au-lait spots, P... |
ORPHA:1556 |
Polymyositis |
|
Chondrocalcinosis, Weight loss |
ORPHA:732 |
X-Linked Creatine Transporter Deficiency |
|
Cachexia, Redundant skin |
ORPHA:52503 |
Primary Sjögren Syndrome |
|
Xerostomia, Skin ulcer, Dry skin, Lichenoid skin lesion, Erythema nodosum, Purpura |
ORPHA:289390 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss, Pallor |
ORPHA:276621 |
Hereditary Elliptocytosis |
|
Hydrops fetalis, Skin ulcer |
ORPHA:288 |
Mucolipidosis Type Ii |
|
Dry hair, White hair, Umbilical hernia, Fine hair, Oligohydramnios, Inguinal hernia, Hip contract... |
ORPHA:576 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Obesity, Inguinal hernia, Cachexia, Abnormal hair pattern, Synophrys |
ORPHA:85293 |
8P23.1 Microdeletion Syndrome |
|
Obesity, Weight loss, Congenital diaphragmatic hernia |
ORPHA:251071 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
Desmosterolosis |
|
Aplasia/Hypoplasia of the skin, Dermal atrophy, Failure to thrive |
ORPHA:35107 |
Al Amyloidosis |
|
Peripheral edema, Xerostomia, Weight loss |
ORPHA:85443 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Weight loss, Pallor |
OMIM:301310 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Schwartz-Jampel Syndrome |
|
Shoulder flexion contracture, Umbilical hernia, Abnormal eyebrow morphology, Long eyelashes in ir... |
ORPHA:800 |
Infantile Krabbe Disease |
|
Cachexia, Hypopigmented skin patches, Failure to thrive |
ORPHA:206436 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Weight loss, Purpura, Petechiae |
ORPHA:85450 |
Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss, Pleural effusion, Pleural empyema |
ORPHA:67 |
Barber-Say Syndrome |
|
Sparse eyebrow, Absent nipple, Hypertrichosis, Premature skin wrinkling, Dermal atrophy, Dry skin... |
OMIM:209885 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Toriello-Lacassie-Droste Syndrome |
|
Polyhydramnios, Aplasia/Hypoplasia of the skin, Failure to thrive |
ORPHA:3339 |
Late-Onset Isolated Acth Deficiency |
|
Dry skin, Weight loss, Failure to thrive |
ORPHA:199299 |
Adams-Oliver Syndrome 5 |
|
Dystrophic toenail, Umbilical hernia, Cutis marmorata telangiectatica congenita, Inguinal hernia,... |
OMIM:616028 |
Trisomy 18 |
|
Webbed neck, Camptodactyly of finger, Oligohydramnios, Congenital diaphragmatic hernia, Hernia, C... |
ORPHA:3380 |
Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
Cockayne Syndrome B |
|
Atypical scarring of skin, Dry hair, Failure to thrive, Abnormal hair morphology, Dermal atrophy,... |
OMIM:133540 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Cystic Echinococcosis |
|
Localized skin lesion, Weight loss |
ORPHA:400 |
Kindler Syndrome |
|
Spotty hypopigmentation, Dermal atrophy, Palmoplantar hyperkeratosis, Diffuse skin atrophy |
OMIM:173650 |
Nocardiosis |
|
Cellulitis, Cutaneous abscess, Pleural effusion, Weight loss, Subcutaneous nodule |
ORPHA:31204 |
Brucellosis |
|
Cutaneous cyst, Erythematous papule, Failure to thrive, Pleural effusion, Weight loss, Purpura, S... |
ORPHA:1304 |
Primary Sclerosing Cholangitis |
|
Ascites, Pruritus, Pleural effusion, Weight loss |
ORPHA:171 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Death in early adulthood, Weight loss |
OMIM:603041 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Corneal scarring, Nail dystrophy, Acral ulceration, Sparse scalp hair |
OMIM:256800 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Lower-limb joint contracture, Upper-limb joint contracture, Cachexia |
ORPHA:300605 |
Postinfectious Vasculitis |
|
Palpable purpura, Subcutaneous nodule, Inflammatory abnormality of the skin, Weight loss |
ORPHA:48435 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Dysosteosclerosis |
|
Abnormal dental enamel morphology, Aplasia/Hypoplasia of the skin |
ORPHA:1782 |
Whipple Disease |
|
Cachexia, Pedal edema |
ORPHA:3452 |
Parkes Weber Syndrome |
|
Capillary malformation, Erythematous plaque, Skin ulcer, Scaling skin |
ORPHA:90307 |
Proteus Syndrome |
|
Verrucous epidermal nevus, Abnormal dental enamel morphology, Capillary malformation, Melanocytic... |
ORPHA:744 |
Behçet Disease |
|
Pleural effusion, Weight loss, Subcutaneous nodule, Papule, Acne |
ORPHA:117 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Alopecia, Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexio... |
OMIM:248370 |
Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
Acute Adrenal Insufficiency |
|
Sparse axillary hair, Weight loss, Failure to thrive, Dry skin |
ORPHA:95409 |
Amyotrophic Lateral Sclerosis |
|
Cachexia, Xerostomia |
ORPHA:803 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Weight loss, Pallor |
ORPHA:29072 |
Congenital Fiber-Type Disproportion Myopathy |
|
Ankle flexion contracture, Failure to thrive, Elbow flexion contracture, Knee flexion contracture... |
ORPHA:2020 |
Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
Sarcoidosis |
|
Alopecia, Chylothorax, Pleural effusion, Joint swelling, Maculopapular exanthema, Scarring, Weigh... |
ORPHA:797 |
Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
Hutchinson-Gilford Progeria Syndrome |
|
Dystrophic toenail, Hypermelanotic macule, Premature skin wrinkling, Dermal atrophy, Alopecia tot... |
ORPHA:740 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Weight loss, Skin rash |
OMIM:301074 |
Familial Glucocorticoid Deficiency |
|
Weight loss, Failure to thrive |
ORPHA:361 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Acral ulceration |
OMIM:201300 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hydrops fetalis, Weight loss |
OMIM:613673 |
Immunodeficiency 82 With Systemic Inflammation |
|
Pustular rash, Skin rash, Joint swelling, Weight loss, Postauricular pit, Recurrent skin infections |
OMIM:619381 |
Castleman Disease |
|
Weight loss, Anasarca |
ORPHA:160 |
Solitary Fibrous Tumor |
|
Weight loss |
ORPHA:2126 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Erythema, Hypopigmented skin patches, Failure to thrive, Abnormal dental enamel morphology, Derma... |
ORPHA:2556 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Ascites, Corneal scarring, Acral ulceration, Failure to thrive |
OMIM:256810 |
Gallbladder Neuroendocrine Tumor |
|
Ascites, Weight loss |
ORPHA:100086 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Familial Colorectal Cancer Type X |
|
Flexion contracture, Weight loss |
ORPHA:440437 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Flexion contracture, Weight loss, Joint swelling, Enthesitis |
ORPHA:85408 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Neuroendocrine Tumor Of The Colon |
|
Weight loss |
ORPHA:100080 |
Rothmund-Thomson Syndrome, Type 2 |
|
Alopecia, Sparse eyebrow, Premature graying of hair, Dermal atrophy, Nail dystrophy, Sparse eyela... |
OMIM:268400 |
Riddle Syndrome |
|
Erythema, Weight loss, Scaling skin |
ORPHA:420741 |
Bronchial Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97287 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Acral ulceration |
OMIM:608654 |
Systemic Lupus Erythematosus |
|
Discoid lupus rash, Alopecia, Malar rash, Weight loss |
ORPHA:536 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Weight loss, Pallor, Abnormal hair quantity |
ORPHA:91347 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss |
ORPHA:54251 |
Scalp-Ear-Nipple Syndrome |
|
Sparse pubic hair, Fine hair, Breast aplasia, Dry skin, Sparse axillary hair, Multiple lipomas, P... |
OMIM:181270 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Fanconi Anemia |
|
Hypopigmented skin patches, Umbilical hernia, Oligohydramnios, Weight loss, Multiple cafe-au-lait... |
ORPHA:84 |
Neuroendocrine Tumor Of The Rectum |
|
Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Weight loss |
ORPHA:100082 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Skin ulcer, Ecchymosis |
ORPHA:2072 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Acral ulceration |
OMIM:256840 |
Cockayne Syndrome |
|
Dry hair, Congenital contracture, Contractures of the large joints, Fine hair, Premature skin wri... |
ORPHA:191 |
Thymoma |
|
Weight loss |
ORPHA:99867 |
Ppoma |
|
Ascites, Weight loss, Subcutaneous lipoma |
ORPHA:97278 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Penetrating foot ulcers |
ORPHA:99956 |
Rett Syndrome |
|
Cachexia |
OMIM:312750 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss, Edema |
ORPHA:309031 |
Xeroderma Pigmentosum, Complementation Group A |
|
Dermal atrophy, Hypermelanotic macule, Erythematous papule, Verrucous epidermal nevus |
OMIM:278700 |
Oculoectodermal Syndrome |
|
Preauricular skin tag, Lymphedema, Supernumerary nipple, Epidermal nevus, Aplasia cutis congenita |
OMIM:600268 |
Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
Addison Disease |
|
Sparse axillary hair, Weight loss, Failure to thrive, Dry skin |
ORPHA:85138 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss |
OMIM:607459 |
Somatostatinoma |
|
Ascites, Weight loss, Subcutaneous lipoma |
ORPHA:97283 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Weight loss, Failure to thrive |
ORPHA:1018 |
Igg4-Related Kidney Disease |
|
Inflammatory abnormality of the skin, Weight loss, Pedal edema |
ORPHA:449395 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Zollinger-Ellison Syndrome |
|
Lipoma, Multiple lipomas, Weight loss, Erythema |
ORPHA:913 |
Grfoma |
|
Ascites, Weight loss, Subcutaneous lipoma |
ORPHA:97261 |
Ileal Neuroendocrine Tumor |
|
Weight loss, Edema |
ORPHA:100078 |
African Trypanosomiasis |
|
Alopecia, Weight loss, Pruritus, Erythematous macule, Miscarriage |
ORPHA:3385 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Weight loss, Small for gestational age |
ORPHA:424 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Multiple Myeloma |
|
Weight loss, Pleural effusion |
ORPHA:29073 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Melanocytic nevus, Cachexia, Multiple cafe-au-lait spots |
ORPHA:1969 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal dental enamel morphology, Redundant skin, Inguinal hernia, Aplasia/Hypoplasia of the ski... |
ORPHA:2658 |
Seckel Syndrome |
|
Abnormal dental enamel morphology, Cachexia, Sparse scalp hair |
ORPHA:808 |
Lynch Syndrome |
|
Flexion contracture, Death in early adulthood, Weight loss, Death in infancy |
ORPHA:144 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Foot joint contracture, Atrophic scars, Milia, Nail dystrophy, Aplasia cutis congenita, Flexion c... |
ORPHA:79408 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Chorioretinal scar, Macular edema, Skin rash, Cystoid macular edema, Weight loss |
ORPHA:91500 |
Neuroendocrine Tumor Of Stomach |
|
Weight loss |
ORPHA:100075 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
Pulmonary Alveolar Microlithiasis |
|
Peripheral edema, Weight loss |
ORPHA:60025 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Thyrotoxic Periodic Paralysis |
|
Obesity, Weight loss |
ORPHA:79102 |
Parathyroid Carcinoma |
|
Lipoma, Chondrocalcinosis, Weight loss |
ORPHA:143 |
Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Facial edema, Palpebral edema, Weight loss, Xerostomia |
ORPHA:79078 |
Nijmegen Breakage Syndrome |
|
Abnormal hair morphology, Cachexia, Abnormal hair quantity, Low anterior hairline |
ORPHA:647 |
Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Weight loss, Pleural effusion |
OMIM:181000 |
Leukocyte Adhesion Deficiency |
|
Nail dystrophy, Perianal abscess, Pyoderma gangrenosum, Recurrent skin infections, Chronic oral c... |
ORPHA:2968 |
Marfan Syndrome |
|
Striae distensae, Cachexia, Inguinal hernia, Slender build |
ORPHA:558 |
Familial Pancreatic Carcinoma |
|
Weight loss |
ORPHA:1333 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss |
OMIM:164310 |
Juvenile Polyposis Of Infancy |
|
Cachexia, Subcutaneous lipoma |
ORPHA:79076 |
Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Adenocarcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424016 |
Branchiooculofacial Syndrome |
|
Dermoid cyst, Atypical scarring of skin, Premature graying of hair, Supernumerary nipple, Dermal ... |
OMIM:113620 |
Camurati-Engelmann Disease |
|
Abnormal subcutaneous fat tissue distribution, Slender build, Cachexia |
ORPHA:1328 |
Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
Choreoacanthocytosis |
|
Weight loss |
ORPHA:2388 |
Tropical Endomyocardial Fibrosis |
|
Ascites, Cachexia, Peripheral edema, Pedal edema |
ORPHA:75565 |
Stickler Syndrome |
|
Abnormal dental enamel morphology, Slender build, Cachexia |
ORPHA:828 |
Goodpasture Syndrome |
|
Weight loss, Pallor |
OMIM:233450 |
Norrie Disease |
|
Cachexia, Failure to thrive |
ORPHA:649 |