Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Aplasia/Hypoplasia of the skin |
ORPHA:735 |
Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis, Skin nodule, Verrucous papule |
ORPHA:139414 |
Ulerythema Ophryogenesis |
|
Acne, Miscarriage, Dry skin, Erythematous papule, Facial erythema, Dermal atrophy, Follicular hyp... |
ORPHA:3406 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Aplasia cutis congenita on trunk or limbs, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis,... |
ORPHA:89838 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer, Papule |
ORPHA:2337 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Papule, Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
Hyperkeratosis Lenticularis Perstans |
|
Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer, Papule |
ORPHA:409 |
Classic Mycosis Fungoides |
|
Alopecia, Skin rash, Eczema, Edema, Pruritus, Erythema, Hypopigmented skin patches, Skin ulcer, D... |
ORPHA:2584 |
Aquagenic Palmoplantar Keratoderma |
|
Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic... |
ORPHA:498359 |
Atrophoderma Vermiculata |
|
Hypoplastic pilosebaceous units, Pruritus, Periauricular skin pits, Erythema, Atrophic scars, Ski... |
ORPHA:79100 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Crusting erythematous dermatitis, Erythema, Palmoplantar hyperkeratosis, Erythematous plaque, Thi... |
ORPHA:158673 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Scarring, Pruritus, Subcutaneous nodule, Hyperkeratosis, Atrophic scars, Nail dystrophy, Dermal a... |
ORPHA:89843 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis, Atrophic scars, Nail dystrophy |
OMIM:131850 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Hypermelanotic macule, Pruritus, Spotty hypopigmentation, Hyperkeratosis,... |
ORPHA:79399 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis |
OMIM:146750 |
Lamellar Ichthyosis |
|
Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Erythroderma, Sparse hair, Dry sk... |
ORPHA:313 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Erythematous pap... |
ORPHA:90280 |
Prolidase Deficiency |
|
Aplasia/Hypoplasia of the skin, Pruritus, Crusting erythematous dermatitis, Low anterior hairline... |
ORPHA:742 |
Superficial Epidermolytic Ichthyosis |
|
Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin |
ORPHA:455 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer, Weight loss, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma |
ORPHA:312 |
Erythrokeratodermia Variabilis |
|
Macule, Alopecia, Skin rash, Hypermelanotic macule, Abnormal hair morphology, Erythema, Patchy pa... |
ORPHA:317 |
Lichen Planopilaris |
|
Alopecia, Pruritus, Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Dermal atrophy, Papule |
ORPHA:525 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Urticarial plaque, Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body... |
ORPHA:64745 |
Meige Disease |
|
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... |
ORPHA:90186 |
Reticular Dysgenesis |
|
Skin rash, Skin ulcer, Dehydration, Weight loss, Failure to thrive |
ORPHA:33355 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Verrucous papule, Acrokeratosis |
OMIM:101900 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Pustule, Dehydration, Long eyelashes, Failure to thrive, Papule |
OMIM:616069 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratos... |
ORPHA:79503 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Eczema, Xerostomia, Dry skin, Hyperkeratosis, Aplasia/... |
ORPHA:238468 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Milia, Skin rash, Camptodactyly of finger, Thin skin |
ORPHA:1658 |
Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dry skin... |
ORPHA:454 |
Reticulate Acropigmentation Of Kitamura |
|
Macule, Hyperkeratosis |
OMIM:615537 |
Acrogeria |
|
Aplasia/Hypoplasia of the skin, Lipoatrophy, Skin ulcer, Fine hair, Excessive wrinkled skin, Thin... |
ORPHA:2500 |
Dermoodontodysplasia |
|
Dry skin, Thin skin, Trichodysplasia |
OMIM:125640 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Flexion contracture, Subcutaneous nod... |
ORPHA:231 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin |
OMIM:617571 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Lipoatrophy, Skin dimple, Thin skin, Sparse hair, Failure to thrive, Aplasia/Hypoplasia of the ey... |
ORPHA:261304 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Chronic Hiccup |
|
Dehydration, Weight loss |
ORPHA:396 |
Harlequin Ichthyosis |
|
Hyperkeratosis, Dehydration, Erythroderma |
ORPHA:457 |
Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Decreased body weight, Spa... |
ORPHA:2985 |
Pemphigus Vulgaris |
|
Atypical scarring of skin, Recurrent cutaneous abscess formation, Weight loss, Acantholysis |
ORPHA:704 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Sparse hair, Eczema, Thin skin, Sparse body hair |
ORPHA:1810 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Diffuse palmoplantar hyperkeratosis, Dermal atrophy, Alopecia of scalp, Sparse body hai... |
OMIM:617294 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atroph... |
ORPHA:542592 |
Darier Disease |
|
Macule, Hypermelanotic macule, Acrokeratosis, Pruritus, Abnormal hair morphology, Plantar pits, P... |
ORPHA:218 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Erythematous pl... |
OMIM:618531 |
Dermoodontodysplasia |
|
Sparse scalp hair, Melanocytic nevus, Thin skin, Trichodysplasia, Dry skin, Sparse body hair |
ORPHA:1660 |
Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia, Cachexia |
ORPHA:2574 |
Bazex Syndrome |
|
Parakeratosis, Edema, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dyst... |
ORPHA:166113 |
Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sp... |
OMIM:607903 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Lack of skin elasticity, A... |
ORPHA:1366 |
Netherton Syndrome |
|
Hypernatremic dehydration, Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infecti... |
OMIM:256500 |
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 |
|
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess |
OMIM:619986 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:1962 |
Familial Cold Urticaria |
|
Pruritus, Erythema, Dehydration |
ORPHA:47045 |
Dowling-Degos Disease |
|
Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Pruritus, Palmar pits, Digital pitt... |
ORPHA:79145 |
Juvenile Hyaline Fibromatosis |
|
Death in infancy, Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Abnormal hair... |
ORPHA:2028 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Medial flaring of the eyebrow, Sparse scalp hair, Thin skin, High anterior hairline, Dry skin |
OMIM:617364 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Atrophic scars, Palmoplantar keratoderma, Nail dystrophy, Milia, Apla... |
ORPHA:79402 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Absent facial hair, Abnormality of... |
ORPHA:90368 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura |
ORPHA:743 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Camptodactyly of finger, Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperker... |
OMIM:212360 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Lipodystrophy, Sparse eyelashes, Sparse eyebrow, Flexion contracture, Cutis la... |
ORPHA:75496 |
Transient Neonatal Diabetes Mellitus |
|
Umbilical hernia, Failure to thrive, Small for gestational age, Dehydration |
ORPHA:99886 |
Hereditary Acrokeratotic Poikiloderma |
|
Eczema, Camptodactyly of finger, Pustule, Erythema, Xerostomia, Hypopigmented skin patches, Palmo... |
ORPHA:2907 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, ... |
ORPHA:1979 |
Chilblain Lupus 1 |
|
Chilblains, Skin ulcer |
OMIM:610448 |
Netherton Syndrome |
|
Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology,... |
ORPHA:634 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Death in infancy, Dehydration |
OMIM:251850 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Small for gestational age, Flexion contracture, Elbow flexion contracture, Deh... |
OMIM:214150 |
X-Linked Ehlers-Danlos Syndrome |
|
Umbilical hernia, Inguinal hernia, Thin skin, Hernia |
ORPHA:75497 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss, Ascites, Palmoplantar keratoderma |
ORPHA:2198 |
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Aplasia cutis congenita, Congenital absence of skin of limbs |
OMIM:600360 |
Pemphigus Erythematosus |
|
Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,... |
ORPHA:79480 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
Chromomycosis |
|
Erythematous macule, Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparak... |
ORPHA:182 |
19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Cachexia, Dry skin, Fine hair, Sparse or absent eyelashes, Thin skin, Spars... |
ORPHA:217346 |
Premature Aging Syndrome, Penttinen Type |
|
Failure to thrive, Lipoatrophy, Skin nodule, Palmoplantar hyperkeratosis, Corneal stromal edema, ... |
OMIM:601812 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Atypical scarring of skin, Petechiae, Thin skin, Striae distensae |
OMIM:225310 |
Familial Cervical Artery Dissection |
|
Abnormality of connective tissue, Thin skin, Striae distensae |
ORPHA:36382 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
Huriez Syndrome |
|
Aplasia/Hypoplasia of the skin, Palmoplantar keratoderma, Lack of skin elasticity, Dry skin |
ORPHA:384 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Stillbirth, Thin skin |
OMIM:259410 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Failure to thrive, Flexion contracture, Thin skin |
ORPHA:157965 |
Arthrochalasia Ehlers-Danlos Syndrome |
|
Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Thin skin |
ORPHA:1899 |
Chronic Mucocutaneous Candidiasis |
|
Skin rash, Abnormal dental enamel morphology, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Papule |
ORPHA:1334 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Olmsted Syndrome 2 |
|
Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa... |
OMIM:619208 |
Flynn-Aird Syndrome |
|
Hyperkeratosis, Alopecia, Alopecia of scalp, Dermal atrophy |
OMIM:136300 |
Pituitary Adenoma 4, Acth-Secreting |
|
Striae distensae, Edema, Obesity, Facial erythema, Abdominal obesity, Thin skin, Ecchymosis, Hirs... |
OMIM:219090 |
Central Diabetes Insipidus |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:178029 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin, Purpura |
ORPHA:745 |
Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Dry skin, Fine hair, P... |
OMIM:129400 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migrans, Skin vesicle |
ORPHA:158681 |
Combined Malonic And Methylmalonic Acidemia |
|
Failure to thrive, Dehydration |
ORPHA:289504 |
Autosomal Agammaglobulinemia |
|
Recurrent skin infections, Skin rash, Dehydration, Cellulitis, Failure to thrive |
ORPHA:33110 |
Familial Keratoacanthoma |
|
Papule, Hyperkeratosis, Subcutaneous nodule, Skin ulcer |
ORPHA:493 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Short eyelashes, Thin skin, Palmar hyperkeratosis, Dry skin, D... |
OMIM:150400 |
Fetal Encasement Syndrome |
|
Omphalocele, Thin skin, Congenital diaphragmatic hernia |
OMIM:613630 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Nonimmune hydro... |
OMIM:607823 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy... |
OMIM:615821 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Dermal atrophy, Scaling skin |
ORPHA:454831 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Dehydration |
ORPHA:28 |
Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Inguinal hernia, Cutis laxa, Thin skin, Sparse hair, Umbilical hernia, Failure to thrive |
OMIM:219150 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Failure to thrive, Dehydration |
OMIM:618958 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Aplasia/Hypoplasia of the skin, Lipoatrophy, Lipody... |
ORPHA:2348 |
Lichen Planus Pemphigoides |
|
Pruritus, Hyperkeratosis, Skin vesicle |
ORPHA:254478 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion, Discoid lupus rash, Hyperkeratosis, Annular cutaneous lesion, Dermal atrophy... |
ORPHA:163525 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Dry skin, Hypoplastic ... |
OMIM:103285 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin |
OMIM:602723 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Pustule, Atopic dermatitis, Dehydration, Weight loss |
ORPHA:171876 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma |
OMIM:615024 |
Xeroderma Pigmentosum |
|
Macule, Alopecia, Hypermelanotic macule, Erythema, Hypopigmented skin patches, Dry skin, Melanocy... |
ORPHA:910 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... |
ORPHA:79481 |
Lymphatic Malformation 12 |
|
Inguinal hernia, Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in a... |
OMIM:620014 |
Proliferating Trichilemmal Cyst |
|
Sparse scalp hair, Epidermoid cyst, Skin ulcer |
ORPHA:492 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Dehydration, Weight loss |
OMIM:143880 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Camptodactyly of finger, Cigarette-paper scars, Thin skin, Webbed neck, Joint contracture of the ... |
OMIM:612350 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Kaposi Sarcoma |
|
Macule, Skin rash, Hypermelanotic macule, Lymphedema, Skin nodule, Weight loss, Skin plaque, Papule |
ORPHA:33276 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Atrophic scars, Inguinal hernia, Thin skin |
OMIM:225320 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Aplasia/Hypoplasia of the skin, Lipoatrophy, Xantho... |
ORPHA:79083 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
Lymphatic Malformation 4 |
|
Hyperkeratosis, Cellulitis, Pedal edema, Lymphedema |
OMIM:615907 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Erythematous... |
OMIM:607602 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss, Edema, Dehydration |
ORPHA:103910 |
Short Syndrome |
|
Inguinal hernia, Small for gestational age, Lipoatrophy, Lipodystrophy, Absence of subcutaneous f... |
OMIM:269880 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
Noonan Syndrome 8 |
|
Curly hair, Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis, Webbed neck, Palmo... |
OMIM:615355 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... |
ORPHA:2457 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Folliculitis, Palm... |
OMIM:308800 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Polyhydramnios, Fine ha... |
ORPHA:1812 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis, Skin nodule |
ORPHA:199267 |
Silver-Russell Syndrome 2 |
|
Thin skin |
OMIM:618905 |
Bullous Pemphigoid |
|
Macule, Psoriasiform dermatitis, Eczema, Erythema, Weight loss |
ORPHA:703 |
Propionic Acidemia |
|
Failure to thrive, Eczema, Dehydration |
OMIM:606054 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Aplasia cutis congenita, Flexion contracture, Polyhydramnios |
OMIM:612138 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Pruritus, Weight loss |
ORPHA:86893 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Skin rash, Skin ulcer, Cellulitis, Failure to thrive |
ORPHA:229717 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Scalin... |
OMIM:616295 |
Osteogenesis Imperfecta, Type Ii |
|
Small for gestational age, Nonimmune hydrops fetalis, Thin skin |
OMIM:166210 |
Restrictive Dermopathy 1 |
|
Sparse eyelashes, Short nail, Polyhydramnios, Epidermal hyperkeratosis, Absent eyelashes, Sparse ... |
OMIM:275210 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Death in adolescence, Dehydration, Death in childhood |
OMIM:560000 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Eczema, Sparse eyelashes, Absent eyelashes, Sparse e... |
OMIM:305100 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Inguinal hernia, Flexion contracture, Elbow flexion contracture, Fine hair, Cutis laxa, Excessive... |
OMIM:614438 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Dehydration |
ORPHA:79312 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Aplasia/Hypopl... |
ORPHA:280365 |
Werner Syndrome |
|
Sparse scalp hair, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, Miscarriage, Abnor... |
ORPHA:902 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Fine hair, Melanocytic nevus, Hypoplastic... |
ORPHA:978 |
Periventricular Nodular Heterotopia |
|
Thin skin, Hernia |
ORPHA:98892 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Acantholysis, Aplasia cutis congenita, Neonatal death, Skin erosion, Alopecia u... |
OMIM:609638 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Polyhydramnios, Weight loss |
OMIM:620045 |
Focal Dermal Hypoplasia |
|
Omphalocele, Macule, Alopecia, Inguinal hernia, Aplasia/Hypoplasia of the skin, Abnormal dental e... |
ORPHA:2092 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Skin erosion, Atrophic scars, Palmoplantar keratoderma, Nail dystrophy, Aplasia cutis congenita, ... |
ORPHA:79411 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Erythroderma, Orthokeratos... |
OMIM:612281 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Preauricular pit, Curly hair, Dermal translucency, Slow-growing hair, Highly arched eyebrow, Poly... |
OMIM:617506 |
Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Atrophic scars, Skin dimple, Sp... |
ORPHA:79133 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Skin rash, Hypopigmented skin patches, Skin ulce... |
ORPHA:47 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Nail dystrophy, Thin skin, Erythroderma, Failure to thrive |
OMIM:615895 |
Aplasia Cutis Congenita |
|
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin |
ORPHA:1114 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hyperkerat... |
OMIM:602400 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
Dermatofibrosarcoma Protuberans |
|
Erythema, Subcutaneous nodule, Skin ulcer |
ORPHA:31112 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Dehydration |
OMIM:602722 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Small for gestational age, Dehydration, Arthrogryposis multiplex congenita, Fai... |
OMIM:208085 |
Cushing Disease |
|
Sparse scalp hair, Striae distensae, Acne, Dorsocervical fat pad, Increased body weight, Recurren... |
ORPHA:96253 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Elbow flexion contracture, Pyoderma gangrenosum, Knee flexion contracture, Cellulitis, Cyst... |
OMIM:604416 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Dehydration |
OMIM:212140 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Eosinophilic Fasciitis |
|
Macule, Fasciitis, Edema, Subcutaneous nodule, Weight loss, Cellulitis, Muscular edema |
ORPHA:3165 |
Recon Progeroid Syndrome |
|
Absent lower eyelashes, Scaling skin, Thin skin, Dry skin, Hirsutism |
OMIM:620370 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Inguinal hernia, Femoral hernia, Abnormality of subcutaneous fat tissue, Scarring, Hiatus hernia,... |
ORPHA:1901 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Cellulitis, Erysipelas |
ORPHA:79452 |
Marshall-Smith Syndrome |
|
Failure to thrive, Generalized hirsutism, Thin skin |
ORPHA:561 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Alopecia, Scaling skin on fingertip, Honeycomb palmoplantar hyperkeratosis, Palmop... |
ORPHA:79395 |
Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebro... |
OMIM:610768 |
Pyoderma Gangrenosum |
|
Pustule, Skin ulcer, Atrophic scars, Skin vesicle, Papule |
ORPHA:48104 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Erythema, Skin ulcer, Palmoplantar keratoderma, Skin fissure, Sparse hair |
ORPHA:659 |
Warburg-Cinotti Syndrome |
|
Ankle flexion contracture, Erythema, Elbow flexion contracture, Joint swelling, Thin skin, Follic... |
OMIM:618175 |
Progressive Nodular Histiocytosis |
|
Subcutaneous nodule, Papule, Cachexia |
ORPHA:158022 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis, Multiple lentigines, Cafe-au-l... |
OMIM:145250 |
Osteootohepatoenteric Syndrome |
|
Pruritus, Failure to thrive, Dehydration, Weight loss |
OMIM:619377 |
De Barsy Syndrome |
|
Inguinal hernia, Lipodystrophy, Cutis laxa, Excessive wrinkled skin, Thin skin, Sparse hair, Umbi... |
ORPHA:2962 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Sparse hair, Hyperkeratosis, Skin ulcer, Fine hair |
ORPHA:1806 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Failure to thrive, Dehydration |
OMIM:251120 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Inguinal hernia, Excessive wrinkled skin, Molluscoid pseudotumors, Thin skin, Follicular hyperker... |
OMIM:225400 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Failure to thrive, Lipoatrophy, Aplasia/Hypoplasia of the skin,... |
ORPHA:79474 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Failure to thrive, Dehydration |
OMIM:264350 |
Follicular Lymphoma |
|
Skin nodule, Pleural effusion, Weight loss, Lymphedema |
ORPHA:545 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Truncal obesity, Thin skin, Striae distensae |
OMIM:219080 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Edema, Sparse eyebrow, Low posterior hairline, Hyperkeratosis,... |
OMIM:604173 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Acantholysis, Skin-colored papule, Punctate palmoplantar hyperkeratosis, Leukonych... |
ORPHA:79151 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Death in infancy, Congenital localized absence of skin, Atrophic scars, Nail dystrophy, Enamel hy... |
OMIM:226700 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Thin skin |
ORPHA:230839 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Truncal obesity, Thin skin, Striae distensae |
OMIM:610475 |
Flynn-Aird Syndrome |
|
Alopecia, Skin ulcer, Dermal atrophy, Cachexia |
ORPHA:2047 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Synophrys, Widow's peak, Upper eyelid edema, Thin skin, Thin eyebrow, Cafe-au-lait spot |
OMIM:617804 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Elbow flexion contracture, Knee flexion contracture, Thin skin, Camptodactyly, ... |
OMIM:601559 |
Prolidase Deficiency |
|
Eczema, Crusting erythematous dermatitis, Skin ulcer, Low posterior hairline, Facial hirsutism, F... |
OMIM:170100 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Flexion contracture, Lack of skin elasti... |
ORPHA:90153 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Skin rash, Eczema, Pruritus, Abnormal hair morphology, Skin ulcer, Cellulitis, Skin vesicle, Dyst... |
ORPHA:2314 |
Congenital Short Bowel Syndrome |
|
Failure to thrive, Dehydration |
OMIM:615237 |
Nodular Non-Suppurative Panniculitis |
|
Aplasia/Hypoplasia of the skin, Edema, Subcutaneous nodule, Erythema, Weight loss, Panniculitis |
ORPHA:33577 |
Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Orthokeratosis |
OMIM:607936 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Inguinal hernia, Hiatus hernia, Atrophic scars, Thin skin, Palmoplantar cutis laxa, Umbilical hernia |
OMIM:130080 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Atopic dermatitis, Skin ulcer |
ORPHA:217390 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... |
OMIM:300918 |
Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Dehydration |
OMIM:203400 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis, White scaling skin |
OMIM:604777 |
Free Sialic Acid Storage Disease |
|
Ascites, Failure to thrive in infancy, Hydrops fetalis, Skin ulcer |
ORPHA:834 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Acne, Edema, Cachexia, Pustule, Flexion contracture, Weight... |
ORPHA:77297 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Dehydration |
OMIM:610600 |
Calciphylaxis |
|
Abnormality of skin physiology, Skin ulcer, Cellulitis |
ORPHA:280062 |
Microvillus Inclusion Disease |
|
Pruritus, Dehydration |
ORPHA:2290 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Skin rash, Edema, Pruritus, Weight loss, Palmoplantar pustulosis |
ORPHA:324964 |
Familial Benign Chronic Pemphigus |
|
Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion |
ORPHA:2841 |
Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
Glucose/Galactose Malabsorption |
|
Failure to thrive, Hypertonic dehydration |
OMIM:606824 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
Beta-Ketothiolase Deficiency |
|
Weight loss, Pallor, Edema, Dehydration |
ORPHA:134 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:95427 |
Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Congenital diaphragmatic hernia, Thin skin, Camptodactyly, Failure... |
OMIM:617602 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:35710 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Abnormal hair morphology, Generalized lipodystrophy, Nail dystrophy, Thin skin, Dermal ... |
ORPHA:90154 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Failure to thrive, Dehydration |
OMIM:177735 |
Acrodermatitis Enteropathica |
|
Abnormal eyebrow morphology, Alopecia, Pustule, Erythema, Skin ulcer, Weight loss, Dry skin, Fail... |
ORPHA:37 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:27 |
Familial Multiple Nevi Flammei |
|
Hypermelanotic macule, Edema, Skin ulcer, Nevus flammeus, Papule |
ORPHA:624 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Pyoderma gangrenosum, Recurrent skin infections |
OMIM:616576 |
Geroderma Osteodysplastica |
|
Redundant skin, Thin skin, Hernia |
ORPHA:2078 |
Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Skin ulcer, Weight loss, Erythematous plaque, Panniculitis, Erythematous papule |
ORPHA:86884 |
Focal Facial Dermal Dysplasia Type Iii |
|
Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Redundant skin, Abnormal hair pattern, Hi... |
ORPHA:1807 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Leishmaniasis |
|
Skin ulcer, Weight loss, Pallor, Skin plaque, Papule |
ORPHA:507 |
Lysosomal Acid Lipase Deficiency |
|
Cachexia, Pruritus, Dehydration, Weight loss, Ascites, Xanthelasma, Xanthomatosis, Failure to thrive |
ORPHA:275761 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Truncal obesity, Thin skin, Striae distensae |
OMIM:610489 |
Papa Syndrome |
|
Pustule, Acne, Skin ulcer |
ORPHA:69126 |
Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Dehydration |
ORPHA:556030 |
Cystinosis |
|
Failure to thrive, Dehydration |
ORPHA:213 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Atrophic scars, Inguinal hernia, Thin skin, Thick eyebrow |
ORPHA:230851 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Reduced subcutaneous adipose tis... |
OMIM:606721 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Dehydration |
OMIM:251000 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:92050 |
Reynolds Syndrome |
|
Skin rash, Pruritus, Xerostomia, Skin ulcer, Ascites |
ORPHA:779 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Acral ulceration, Skin ulcer |
ORPHA:139578 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Thin skin |
OMIM:201170 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Inguinal hernia, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Spars... |
OMIM:129900 |
Arterial Tortuosity Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Flexion contracture, Cutis laxa,... |
OMIM:208050 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Inguinal hernia, Synophrys, Atypical scarring of skin, Thin skin, Follicular hyperkeratosis, Umbi... |
ORPHA:536545 |
Glass Syndrome |
|
Inguinal hernia, Long eyelashes, Thin skin, Camptodactyly, Sparse hair |
OMIM:612313 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Fine hair, Premature graying of hair, Nail dystrophy, Thin skin, Sparse hair, Dermal translucency |
OMIM:612199 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Polyarteritis Nodosa |
|
Erythema, Subcutaneous nodule, Skin ulcer, Weight loss |
ORPHA:767 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Absent eyebrow, Camptodactyly of finger, Abnormal hair pattern, Redundant skin, Abse... |
ORPHA:920 |
Acquired Purpura Fulminans |
|
Macule, Erythematous macule, Skin rash, Pyoderma gangrenosum, Macular purpura |
ORPHA:49566 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Limb joint contracture, Sparse axillary hair, Sparse pubic hair, Scarring alo... |
ORPHA:251393 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration, Failure to thrive |
OMIM:143860 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Dermal translucency, Multiple joint contractures, Atrophic scars, Thin skin, Dentinogenesis imper... |
ORPHA:536467 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Sparse scalp hair, Striae distensae, Acne, Dorsocervical fat pad, Increased body weight, Recurren... |
ORPHA:99889 |
Classic Hodgkin Lymphoma |
|
Pruritus, Skin rash, Weight loss |
ORPHA:391 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Inguinal hernia, Multiple joint contractures, Numerous nevi, Lymphedema, Flexi... |
ORPHA:536471 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Failure to thrive, Dehydration |
OMIM:615453 |
Incontinentia Pigmenti |
|
Alopecia, Skin rash, Abnormal dental enamel morphology, Supernumerary nipple, Camptodactyly of fi... |
ORPHA:464 |
Reactive Arthritis |
|
Pustule, Enthesitis, Weight loss, Joint swelling, Hyperkeratosis, Dystrophic fingernails |
ORPHA:29207 |
Kaufman Oculocerebrofacial Syndrome |
|
Sparse eyebrow, Thin skin, Sparse hair, Preauricular skin tag, Failure to thrive |
OMIM:244450 |
Multicentric Reticulohistiocytosis |
|
Skin nodule, Cachexia |
ORPHA:139436 |
Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Pyoderma gangrenosum, Panniculitis, Cystic acne, Acne inversa |
OMIM:608068 |
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
|
Nail dystrophy, Congenital localized absence of skin |
OMIM:132000 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Weight loss, Pallor, Edema, Dehydration |
ORPHA:20 |
Limited Cutaneous Systemic Sclerosis |
|
Joint contracture of the hand, Foot joint contracture, Hypopigmented skin patches, Skin ulcer |
ORPHA:220402 |
Even-Plus Syndrome |
|
Highly arched eyebrow, Synophrys, Atopic dermatitis, Sparse hair, Aplasia cutis congenita, Oligoh... |
OMIM:616854 |
Meier-Gorlin Syndrome 1 |
|
Death in infancy, Failure to thrive, Small for gestational age, Flexion contracture, Long eyelash... |
OMIM:224690 |
Adrenal Hypoplasia, Congenital |
|
Failure to thrive, Dehydration |
OMIM:300200 |
Acute Myelomonocytic Leukemia |
|
Pallor, Weight loss |
ORPHA:517 |
Wolcott-Rallison Syndrome |
|
Ascites, Dehydration, Decreased body weight |
ORPHA:1667 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Aplasia cutis congenita on trunk or limbs, Recurrent skin infections, Scarring, Erythem... |
ORPHA:79396 |
Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Sparse scalp hair, Failure to thrive, Edema, Cutis laxa, Frontal upsweep of hair, Thin skin, Umbi... |
OMIM:266920 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
Livedoid Vasculopathy |
|
Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Skin ulcer, P... |
ORPHA:542643 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Recurrent skin infections, Edema, Skin erosion, Dehydration, Skin plaque, Pyoderma, Nai... |
ORPHA:79404 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Premature graying of hair, Thin skin |
OMIM:112250 |
Takayasu Arteritis |
|
Subcutaneous nodule, Skin ulcer, Weight loss |
ORPHA:3287 |
Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Erythema, Hydrops fetalis, Dehydration, Pallor, Death in childhood, Fa... |
OMIM:557000 |
Juvenile Dermatomyositis |
|
Alopecia, Skin rash, Palpebral edema, Pruritus, Erythema, Skin ulcer, Weight loss, Dry skin |
ORPHA:93672 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Elbow flexion contracture, Knee flexion contracture, Cutis laxa, Thin skin, Spar... |
OMIM:151050 |
Dermatomyositis |
|
Abnormal hair quantity, Aplasia/Hypoplasia of the skin, Edema, Periorbital edema, Pruritus, Eryth... |
ORPHA:221 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Macule, Skin rash, Pustule, Angioedema, Erythema, Weight loss, Erythroderma |
ORPHA:139402 |
3-Methylglutaconic Aciduria, Type Viib |
|
Flexion contracture, Polyhydramnios, Dehydration |
OMIM:616271 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Arterial Tortuosity Syndrome |
|
Inguinal hernia, Femoral hernia, Redundant skin, Hiatus hernia, Thin skin |
ORPHA:3342 |
Pseudomyxoma Peritonei |
|
Ascites, Hernia, Weight loss |
ORPHA:26790 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Weight loss, Eczema, Perioral eczema |
ORPHA:79242 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
Dermatoosteolysis, Kirghizian Type |
|
Skin ulcer, Aplasia/Hypoplasia of the skin, Dystrophic fingernails, Dystrophic toenail |
ORPHA:1657 |
Progressive Hemifacial Atrophy |
|
Aplasia/Hypoplasia of the skin |
ORPHA:1214 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Yao Syndrome |
|
Xerostomia, Inflammatory abnormality of the skin, Skin rash, Weight loss |
OMIM:617321 |
Ollier Disease |
|
Subcutaneous nodule, Skin ulcer |
ORPHA:296 |
Benign Recurrent Intrahepatic Cholestasis |
|
Pruritus, Weight loss |
ORPHA:65682 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Failure to thrive, Polyhydramnios, Dehydration |
OMIM:214700 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Failure to thrive, Hirsutism, Dehydration |
ORPHA:90791 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Palpebral edema... |
ORPHA:69735 |
Brooke-Spiegler Syndrome |
|
Skin-colored papule, Skin nodule, Skin ulcer, Nodular changes affecting the eyelids |
ORPHA:79493 |
Wilson Disease |
|
Pruritus, Increased body weight, Weight loss, Joint swelling, Failure to thrive |
ORPHA:905 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Thin skin |
ORPHA:449291 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Death in infancy, Flexion contracture, Cachexia |
ORPHA:157973 |
Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Dehydration |
OMIM:251110 |
Poems Syndrome |
|
Lipodystrophy, Edema, Pericardial effusion, Abnormality of skin physiology, Leukonychia, Weight l... |
ORPHA:2905 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Aplasia/Hypoplasia of the skin, Premature graying of hair, Multiple caf... |
ORPHA:100 |
Rothmund-Thomson Syndrome |
|
Plantar hyperkeratosis, Aplasia/Hypoplasia of the skin, Skin rash, Sparse eyelashes, Alopecia tot... |
ORPHA:2909 |
Eosinophilic Gastroenteritis |
|
Ascites, Atopic dermatitis, Edema, Weight loss |
ORPHA:2070 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Inguinal hernia, Thin skin |
ORPHA:2719 |
Cholera |
|
Palmoplantar cutis laxa, Miscarriage, Dehydration |
ORPHA:173 |
Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
Alternating Hemiplegia Of Childhood |
|
Pallor, Failure to thrive, Thin eyebrow, Dehydration |
ORPHA:2131 |
Toxic Epidermal Necrolysis |
|
Macule, Acantholysis, Erythema, Skin ulcer, Weight loss |
ORPHA:537 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Acne, Pustule, Skin nodule, Pyoderma gangrenosum, E... |
ORPHA:3243 |
Pleural Mesothelioma |
|
Pleural effusion, Weight loss |
ORPHA:50251 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Alopecia, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Dermal atrophy, Skin... |
ORPHA:257 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Cachexia, Absence of subcutaneous fat, Corneal scarring, Death in adolescence,... |
OMIM:610965 |
Dyskeratosis Congenita |
|
Macule, Abnormal eyebrow morphology, Alopecia, Aplasia/Hypoplasia of the skin, Hypermelanotic mac... |
ORPHA:1775 |
Methylmalonic Aciduria, Cbla Type |
|
Failure to thrive, Dehydration |
OMIM:251100 |
Renal Hypoplasia |
|
Small for gestational age, Dehydration |
ORPHA:93101 |
Kikuchi-Fujimoto Disease |
|
Macule, Erythematous macule, Alopecia, Skin rash, Palpebral edema, Pruritus, Pustule, Skin nodule... |
ORPHA:50918 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Alopecia, Sparse eyelashe... |
OMIM:264090 |
Fusariosis |
|
Fasciitis, Maculopapular exanthema, Subcutaneous nodule, Skin ulcer, Panniculitis, Cellulitis, Pl... |
ORPHA:228119 |
Cronkhite-Canada Syndrome |
|
Alopecia, Cachexia, Lymphedema, Dystrophic toenail, Patchy alopecia, Dystrophic fingernails, Spar... |
ORPHA:2930 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Edema, Lymphedema, Abnormal eyelash morphology, Abnormal hair morphology, Subcutane... |
ORPHA:2526 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Dehydration, Oligohydramnios |
OMIM:263200 |
Kindler Epidermolysis Bullosa |
|
Aplasia/Hypoplasia of the skin, Recurrent skin infections, Abnormal dental enamel morphology, Cam... |
ORPHA:2908 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Pyoderma gangrenosum, Chronic oral candidiasis |
OMIM:150550 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Cachexia, Polyhydramnios, Flexion contracture, Neonatal death, Arthrogryp... |
OMIM:618186 |
Oligomeganephronia |
|
Congenital diaphragmatic hernia, Small for gestational age, Dehydration |
ORPHA:2260 |
Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Inguinal hernia, Death in infancy, Abnormal dental enamel morphology, Dehydrat... |
ORPHA:534 |
Infantile Myofibromatosis |
|
Abnormal hair morphology, Subcutaneous nodule, Skin ulcer, Chondrocalcinosis |
ORPHA:2591 |
Stiff Skin Syndrome |
|
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Lipoatrophy, Lack of skin elasticity |
ORPHA:2833 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Absent eyebrow, Omphalocele, Redundant skin, Absent eyelashes, Hypoplastic nipple... |
OMIM:200110 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Failure to thrive, Recurrent skin infecti... |
ORPHA:3455 |
Immunoglobulin A Vasculitis |
|
Macule, Skin rash, Edema, Pustule, Angioedema, Erythema, Skin ulcer, Purpura |
ORPHA:761 |
Aggressive Systemic Mastocytosis |
|
Pruritus, Ascites, Maculopapular exanthema, Weight loss |
ORPHA:98850 |
Shigellosis |
|
Failure to thrive in infancy, Dehydration, Purpura |
ORPHA:810 |
Vipoma |
|
Erythema, Dehydration, Weight loss, Ascites, Subcutaneous lipoma |
ORPHA:97282 |
Christianson Syndrome |
|
Arthrogryposis multiplex congenita, Cachexia, Death in early adulthood, Thick eyebrow |
ORPHA:85278 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Pruritus, Subcutaneous nodule, Skin ulcer, Papule |
ORPHA:556 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Hypertonic dehydration |
OMIM:125800 |
Helsmoortel-Van Der Aa Syndrome |
|
Obesity, Truncal obesity, Thin skin, High anterior hairline, Failure to thrive |
OMIM:615873 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Hypertonic dehydration |
OMIM:304800 |
Bone Dysplasia, Lethal Holmgren Type |
|
Redundant neck skin, Failure to thrive, Hernia, Weight loss |
ORPHA:1842 |
Kosaki Overgrowth Syndrome |
|
Xanthelasma, Thin skin |
OMIM:616592 |
Chronic Granulomatous Disease |
|
Macule, Eczema, Skin ulcer, Hypermelanotic macule |
ORPHA:379 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Scarring, Pruritus, Palmoplantar keratoderma, Nail dystro... |
ORPHA:158668 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Dehydration, Weight loss, Lower-limb joint contracture, Arthrogryposis multiplex congenita, Failu... |
ORPHA:99885 |
Infantile Systemic Hyalinosis |
|
Camptodactyly of finger, Lymphedema, Subcutaneous nodule, Skin ulcer, Failure to thrive |
ORPHA:2176 |
Thymic Carcinoma |
|
Palpebral edema, Edema, Weight loss |
ORPHA:99868 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss, Pallor, Lymphedema |
ORPHA:3226 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Congenital diaphragmatic hernia, Highly arched eyebrow, Asymmetric, linear skin defects, Nail dys... |
OMIM:300887 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Pleural effusion, Atopic dermatitis, Weight loss |
ORPHA:2902 |
Blau Syndrome |
|
Eczema, Camptodactyly of finger, Erythema nodosum, Intermittent generalized erythematous papular ... |
OMIM:186580 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the skin |
ORPHA:1643 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Pyoderma gangrenosum, Recurrent skin infections, Cellulitis |
ORPHA:486 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Acne, Miscarriage, Frontal balding, Dehydration, Weight loss, Failure to thrive, Hirsutism |
ORPHA:90794 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Leprosy |
|
Urticarial plaque, Absent eyebrow, Alopecia, Hypopigmented macule, Skin nodule, Loss of eyelashes... |
ORPHA:548 |
Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Generalized hirsutism, Skin ulcer |
ORPHA:2218 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Generalized hirsutism |
ORPHA:2221 |
Aicardi-Goutieres Syndrome 9 |
|
Chilblains, Edema, Pericardial effusion, Dry skin, Weight loss, Ascites, Failure to thrive |
OMIM:619487 |
Malignant Peritoneal Mesothelioma |
|
Ascites, Pedal edema, Weight loss |
ORPHA:168811 |
Osteogenesis Imperfecta, Type I |
|
Dentinogenesis imperfecta, Thin skin |
OMIM:166200 |
Microscopic Polyangiitis |
|
Erythema, Subcutaneous nodule, Skin rash, Skin ulcer |
ORPHA:727 |
Dend Syndrome |
|
Dehydration |
ORPHA:79134 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the skin, Slow-growing hair, Abnormal dental enamel morphology, Sparse eyeb... |
ORPHA:1896 |
Microsporidiosis |
|
Cachexia, Skin nodule, Dehydration, Weight loss |
ORPHA:2552 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Failure to thrive, Hydrops fetalis, Dehydration |
ORPHA:79282 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Skin rash, Subcutaneous nodule, Hypopigmented skin patches, Weight loss, Papule, Purpura |
ORPHA:183 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Abnormal dental enamel morphology, Weight loss, Melanocytic nevus, Hype... |
ORPHA:79430 |
Rhabdoid Tumor |
|
Subcutaneous nodule, Weight loss |
ORPHA:69077 |
Colchicine Poisoning |
|
Alopecia, Dehydration |
ORPHA:31824 |
Mcdonough Syndrome |
|
Synophrys, Cachexia |
ORPHA:2471 |
Acrofacial Dysostosis, Palagonia Type |
|
Aplasia/Hypoplasia of the skin, Sparse eyelashes, Low anterior hairline, Dermal atrophy, Thin eye... |
ORPHA:1787 |
Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
Chime Syndrome |
|
Erythema, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair |
ORPHA:3474 |
Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Dehydration |
ORPHA:3008 |
Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Cachexia, Thin eyebrow |
ORPHA:3242 |
Stevens-Johnson Syndrome |
|
Macule, Erythema, Weight loss, Acantholysis |
ORPHA:36426 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Systemic Sclerosis |
|
Alopecia, Recurrent skin infections, Cutaneous sclerotic plaque, Pruritus, Digital pitting scar, ... |
ORPHA:90291 |
Dopamine Beta-Hydroxylase Deficiency |
|
Dehydration |
ORPHA:230 |
Short Syndrome |
|
Inguinal hernia, Alopecia, Lipodystrophy, Abnormal dental enamel morphology, Weight loss, Excessi... |
ORPHA:3163 |
Osteosarcoma |
|
Joint swelling, Weight loss |
ORPHA:668 |
Pgm3-Cdg |
|
Recurrent skin infections, Eczema, Atopic dermatitis, Skin ulcer, Failure to thrive, Cutaneous ab... |
ORPHA:443811 |
Hereditary Spherocytosis |
|
Maculopapular exanthema, Pallor, Skin ulcer |
ORPHA:822 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion, Weight loss |
ORPHA:411703 |
Pearson Syndrome |
|
Small for gestational age, Hydrops fetalis, Dehydration, Corneal stromal edema, Cafe-au-lait spot |
ORPHA:699 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Atrichia, Scaling skin, Death in childhood, Neonatal death, Dystrophic fingernails, Subungual hyp... |
OMIM:308205 |
Pneumocystosis |
|
Pleural effusion, Weight loss, Chronic oral candidiasis |
ORPHA:723 |
Non-Functioning Paraganglioma |
|
Pallor, Weight loss |
ORPHA:94080 |
Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
Bare Lymphocyte Syndrome, Type I |
|
Skin ulcer |
OMIM:604571 |
Peripheral Primitive Neuroectodermal Tumor |
|
Pruritus, Ascites, Weight loss |
ORPHA:370348 |
Infantile Nephropathic Cystinosis |
|
Failure to thrive, Dehydration |
ORPHA:411629 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
Adams-Oliver Syndrome 2 |
|
Aplasia cutis congenita, Alopecia, Low anterior hairline, Oligohydramnios |
OMIM:614219 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Dry skin, Skin rash, Dermal atrophy, Cachexia |
ORPHA:220295 |
Familial Thrombocytosis |
|
Pruritus, Miscarriage, Weight loss |
ORPHA:71493 |
Wild Type Attr Amyloidosis |
|
Pleural effusion, Weight loss, Pedal edema, Pulmonary edema |
ORPHA:330001 |
Adams-Oliver Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the skin, Ascites, Sparse hair, Aplasia cutis congenita, Failure ... |
ORPHA:974 |
Desmoplastic Small Round Cell Tumor |
|
Ascites, Cachexia, Weight loss |
ORPHA:83469 |
Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss, Knee flexion contracture |
ORPHA:3208 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia, Camptodactyly of finger, Polyhydramnios |
ORPHA:2774 |
Lymphoid Interstitial Pneumonia |
|
Skin rash, Eczema, Weight loss, Abnormality of connective tissue, Failure to thrive |
ORPHA:79128 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Failure to thrive, Dehydration |
ORPHA:168558 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Bartter Syndrome Type 4 |
|
Small for gestational age, Polyhydramnios, Dehydration, Severe failure to thrive, Failure to thrive |
ORPHA:89938 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Failure to thrive, Dehydration |
ORPHA:289548 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Huntington Disease |
|
Decreased body mass index, Weight loss |
ORPHA:399 |
Cystinosis, Nephropathic |
|
Hypopigmentation of hair, Failure to thrive in infancy, Dehydration, Weight loss |
OMIM:219800 |
Barber-Say Syndrome |
|
Aplasia/Hypoplasia of the skin, Redundant skin, Sparse or absent eyelashes, Breast aplasia, Hypop... |
ORPHA:1231 |
Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
Liposarcoma |
|
Subcutaneous nodule, Weight loss |
ORPHA:69078 |
Xeroderma Pigmentosum Variant |
|
Dry skin, Dermal atrophy |
ORPHA:90342 |
Cryoglobulinemic Vasculitis |
|
Petechiae, Skin ulcer, Purpura |
ORPHA:91138 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Camptodactyly of finger, Hydrops fetalis, Weight loss, Failure to thrive, Genera... |
ORPHA:354 |
Distal Renal Tubular Acidosis |
|
Failure to thrive, Dehydration |
ORPHA:18 |
Acute Monoblastic/Monocytic Leukemia |
|
Periorbital edema, Subcutaneous nodule, Weight loss |
ORPHA:514 |
Multiple Endocrine Neoplasia Type 1 |
|
Dehydration, Weight loss, Large cafe-au-lait macules with irregular margins, Multiple lipomas, Co... |
ORPHA:652 |
Bartter Syndrome, Type 1, Antenatal |
|
Small for gestational age, Polyhydramnios, Dehydration, Failure to thrive, Chondrocalcinosis |
OMIM:601678 |
Diffuse Cutaneous Systemic Sclerosis |
|
Flexion contracture, Xerostomia, Skin ulcer |
ORPHA:220393 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Urticarial plaque, Skin rash, Eczema, Erythema nodosum, Skin ulcer, Panniculitis, Purpura |
OMIM:615688 |
Giant Cell Arteritis |
|
Alopecia, Skin ulcer, Weight loss |
ORPHA:397 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Weight loss, Pleural effusion, Ascites, Generalized edema |
ORPHA:90362 |
Neuroleptic Malignant Syndrome |
|
Dehydration |
ORPHA:94093 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Eczema, Weight loss, Enamel hypoplasia, Failure to thrive |
OMIM:212750 |
Rat-Bite Fever |
|
Skin rash, Maculopapular exanthema, Erythema nodosum, Pustule, Weight loss, Scaling skin, Morbill... |
ORPHA:31205 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Death in early adulthood, Alopecia, Brittle hair, D... |
OMIM:608612 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Weight loss |
ORPHA:298 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Polyhydramnios, Scarring alopecia of scalp, Skin erosi... |
ORPHA:158684 |
Marburg Hemorrhagic Fever |
|
Skin rash, Petechiae, Maculopapular exanthema, Dehydration |
ORPHA:99826 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Lack of skin elasticity, Dermal atro... |
OMIM:615381 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Oculocerebrocutaneous Syndrome |
|
Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Congenital diaphragmatic hernia, Hypopigment... |
ORPHA:1647 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Recurrent skin infections, Nevus, Skin erosion, Flexion contracture, Atypical scarring of skin, D... |
ORPHA:89842 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Systemic Capillary Leak Syndrome |
|
Pleural effusion, Weight loss, Pedal edema, Pulmonary edema |
ORPHA:188 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Failure to thrive, Polyhydramnios |
ORPHA:223 |
Juvenile Nephropathic Cystinosis |
|
Failure to thrive, Dehydration |
ORPHA:411634 |
Bartter Syndrome, Type 3 |
|
Dehydration |
OMIM:607364 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Nail dystrophy, Scaling skin, Spar... |
OMIM:604536 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
Loeys-Dietz Syndrome |
|
Atypical scarring of skin, Striae distensae, Camptodactyly of finger, Thin skin |
ORPHA:60030 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Premature graying of hair, Excessive wrinkled skin, Nail dystrophy, Dermal atr... |
ORPHA:3322 |
Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Pustule, Subcutaneous nodule, Cerebral edema, Skin ulcer, Papule |
ORPHA:68 |
Bartter Syndrome, Type 2, Antenatal |
|
Small for gestational age, Polyhydramnios, Dehydration, Failure to thrive, Chondrocalcinosis |
OMIM:241200 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Inflammatory abnormality of the skin, Skin rash, Trichiasis, Acantholysis, Xerostomia, Skin ulcer... |
ORPHA:95455 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Aredyld Syndrome |
|
Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Sparse body hair, Aplasia/Hypoplasia of... |
ORPHA:1133 |
Rothmund-Thomson Syndrome Type 1 |
|
Plantar hyperkeratosis, Small for gestational age, Alopecia totalis, Abnormal dental enamel morph... |
ORPHA:221008 |
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 |
|
Macule, Alopecia, Inguinal hernia, Redundant skin, Abnormality of hair texture, Abnormal eyelash ... |
ORPHA:286 |
Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
Rothmund-Thomson Syndrome Type 2 |
|
Plantar hyperkeratosis, Small for gestational age, Alopecia totalis, Abnormal dental enamel morph... |
ORPHA:221016 |
Tetrasomy 12P |
|
Sparse hair, Cachexia, Sparse eyebrow |
ORPHA:884 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Umbilical hernia, Dehydration, Oligohydramnios |
ORPHA:96191 |
Restrictive Dermopathy |
|
Multiple joint contractures, Short nail, Polyhydramnios, Epidermal hyperkeratosis, Sparse eyebrow... |
ORPHA:1662 |
Granulomatosis With Polyangiitis |
|
Skin rash, Periorbital edema, Skin ulcer, Weight loss, Papule, Purpura |
ORPHA:900 |
Primary Myelofibrosis |
|
Cachexia, Pallor, Ecchymosis, Petechiae, Purpura |
ORPHA:824 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424019 |
Malignant Atrophic Papulosis |
|
Pleural effusion, Dermal atrophy, Papule, Weight loss |
ORPHA:679 |
Adrenocortical Carcinoma |
|
Weight loss, Increased body weight, Striae distensae, Hypertrichosis |
ORPHA:1501 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Recurrent skin infections, Eczema,... |
ORPHA:37042 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Acral ulceration |
OMIM:613115 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pruritus, Pallor, Weight loss |
ORPHA:98849 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Ménétrier Disease |
|
Peripheral edema, Weight loss |
ORPHA:2494 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Severe failure to... |
ORPHA:371364 |
Primary Fanconi Renotubular Syndrome |
|
Dehydration, Weight loss |
ORPHA:3337 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Generalized hirsutism, Cachexia |
ORPHA:1933 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Hyperoxaluria, Primary, Type I |
|
Dehydration |
OMIM:259900 |
Attenuated Chédiak-Higashi Syndrome |
|
Skin ulcer |
ORPHA:352723 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Dehydration |
ORPHA:90038 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
Wolman Disease |
|
Ascites, Cachexia |
ORPHA:75233 |
Felty Syndrome |
|
Subcutaneous nodule, Weight loss, Cellulitis |
ORPHA:47612 |
Rheumatoid Arthritis |
|
Joint swelling, Weight loss |
OMIM:180300 |
Hypermobile Ehlers-Danlos Syndrome |
|
Inguinal hernia, Genital hernia, Cystocele, Subcutaneous nodule, Atypical scarring of skin, Thin ... |
ORPHA:285 |
Blau Syndrome |
|
Skin rash, Camptodactyly of finger, Erythema nodosum, Erythema, Xerostomia, Skin ulcer, Joint swe... |
ORPHA:90340 |
Proximal Renal Tubular Acidosis |
|
Failure to thrive, Enamel hypomineralization, Dehydration |
ORPHA:47159 |
Catastrophic Antiphospholipid Syndrome |
|
Miscarriage, Skin ulcer |
ORPHA:464343 |
Polycythemia Vera |
|
Pruritus, Weight loss |
ORPHA:729 |
Glucagonoma |
|
Skin rash, Necrolytic migratory erythema, Pruritus, Weight loss, Ascites, Subcutaneous lipoma |
ORPHA:97280 |
Leukocyte Adhesion Deficiency, Type I |
|
Skin ulcer, Chronic mucocutaneous candidiasis |
OMIM:116920 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Inguinal hernia, Aplasia/Hypoplasia of the skin, Camptodactyly of finger, Nevus, Low posterior ha... |
ORPHA:2990 |
Q Fever |
|
Maculopapular exanthema, Pericardial effusion, Weight loss, Pleural effusion, Purpura |
ORPHA:781 |
Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, Pallor, Skin ulcer |
ORPHA:231226 |
Igg4-Related Retroperitoneal Fibrosis |
|
Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Pedal edema, Weight loss |
ORPHA:49041 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Cachexia |
ORPHA:42 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Xerostomia, Nail dystrophy, Cachexia |
OMIM:175500 |
Erdheim-Chester Disease |
|
Skin rash, Weight loss, Joint swelling, Xanthelasma, Pleural effusion |
ORPHA:35687 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Subcutaneous nodule, Weight loss |
ORPHA:764 |
Chronic Graft Versus Host Disease |
|
Alopecia, Fasciitis, Flexion contracture, Xerostomia, Intermittent generalized erythematous papul... |
ORPHA:99921 |
Lyme Disease |
|
Joint swelling, Skin nodule, Dermal atrophy |
ORPHA:91546 |
Caroli Disease |
|
Pruritus, Ascites, Weight loss |
ORPHA:53035 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Cystic Fibrosis |
|
Failure to thrive, Dehydration |
OMIM:219700 |
Acute Promyelocytic Leukemia |
|
Ecchymosis, Purpura, Petechiae, Weight loss |
ORPHA:520 |
Hajdu-Cheney Syndrome |
|
Inguinal hernia, Synophrys, Low anterior hairline, Skin ulcer, Dry skin, Coarse hair, Hernia, Umb... |
ORPHA:955 |
Curry-Jones Syndrome |
|
Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Generalized hirsutism |
ORPHA:1553 |
Neuroblastoma, Susceptibility To, 1 |
|
Skin nodule, Failure to thrive, Weight loss |
OMIM:256700 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Acral ulceration |
OMIM:162400 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Erythematous plaque, Ascites, Weight loss |
ORPHA:100085 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Insulin-Resistance Syndrome Type B |
|
Alopecia, Skin rash, Abnormality of body weight, Increased body weight, Weight loss, Decreased bo... |
ORPHA:2298 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Beta-Thalassemia Intermedia |
|
Pallor, Skin ulcer |
ORPHA:231222 |
Simple Cryoglobulinemia |
|
Purpura, Localized skin lesion, Acral ulceration, Weight loss |
ORPHA:91139 |
De Sanctis-Cacchione Syndrome |
|
Parakeratosis, Hypermelanotic macule, Dermal atrophy |
OMIM:278800 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia, Lymphedema, Subcutaneous nodule, Multiple cafe-au-lait spots, Nevus, Lipoma |
ORPHA:109 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Recurrent skin infections, Polyhydramnios, Nail dystrophy, Aplasia cutis congenita, Enamel hypopl... |
ORPHA:79403 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Aicardi-Goutieres Syndrome 7 |
|
Skin rash, Chilblains, Edema, Pericardial effusion, Atopic dermatitis, Weight loss, Oligohydramnios |
OMIM:615846 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Shoulder dimple, Cachexia, Obesity, Cafe-au-lait spot |
ORPHA:813 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Nail dystrophy, Skin ulcer, Amelogenesis imperfecta |
OMIM:245660 |
Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
Granulomatosis With Polyangiitis |
|
Skin ulcer, Weight loss |
OMIM:608710 |
Beta-Thalassemia Major |
|
Failure to thrive in infancy, Pallor, Skin ulcer |
ORPHA:231214 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Joint swelling, Weight loss |
ORPHA:465508 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Sparse scalp hair, Sparse eyelashes, Hypoplastic pilosebaceous units, Sparse eyebrow, Hypoplastic... |
OMIM:601345 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Pallor, Weight loss |
ORPHA:35858 |
Plague |
|
Chapped lip, Skin rash, Edema, Erythema nodosum, Localized skin lesion, Skin ulcer, Dry skin |
ORPHA:707 |
Budd-Chiari Syndrome |
|
Ascites, Weight loss |
ORPHA:131 |
Immunodeficiency 31C |
|
Eczema, Chronic mucocutaneous candidiasis, Weight loss, Chronic oral candidiasis, Recurrent vulvo... |
OMIM:614162 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Cutis Marmorata Telangiectatica Congenita |
|
Aplasia/Hypoplasia of the skin, Blue nevus, Multiple cafe-au-lait spots, Skin erosion, Ascites, P... |
ORPHA:1556 |
Anaplastic Thyroid Carcinoma |
|
Weight loss |
ORPHA:142 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Polymyositis |
|
Chondrocalcinosis, Weight loss |
ORPHA:732 |
Alveolar Echinococcosis |
|
Weight loss, Pedal edema, Cutaneous abscess |
ORPHA:284 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor, Weight loss |
ORPHA:276621 |
Wiskott-Aldrich Syndrome |
|
Petechiae, Eczema, Skin ulcer, Purpura |
ORPHA:906 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
X-Linked Creatine Transporter Deficiency |
|
Redundant skin, Cachexia |
ORPHA:52503 |
X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Camptodactyly of finger, Abnormal hair pattern, Cachexia, Synophrys, Obesity |
ORPHA:85293 |
8P23.1 Microdeletion Syndrome |
|
Obesity, Congenital diaphragmatic hernia, Weight loss |
ORPHA:251071 |
Primary Sjögren Syndrome |
|
Erythema nodosum, Xerostomia, Skin ulcer, Dry skin, Lichenoid skin lesion, Purpura |
ORPHA:289390 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
Desmosterolosis |
|
Aplasia/Hypoplasia of the skin, Failure to thrive, Dermal atrophy |
ORPHA:35107 |
Mucolipidosis Type Ii |
|
Hip contracture, Dry hair, Inguinal hernia, White hair, Knee flexion contracture, Fine hair, Weig... |
ORPHA:576 |
Lynch Syndrome |
|
Death in infancy, Flexion contracture, Death in early adulthood, Weight loss |
ORPHA:144 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Al Amyloidosis |
|
Peripheral edema, Xerostomia, Weight loss |
ORPHA:85443 |
Schwartz-Jampel Syndrome |
|
Abnormal eyebrow morphology, Hip contracture, Inguinal hernia, Decreased body weight, Shoulder fl... |
ORPHA:800 |
Amoebiasis Due To Entamoeba Histolytica |
|
Pleural effusion, Pleural empyema, Weight loss |
ORPHA:67 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Barber-Say Syndrome |
|
Dermal translucency, Absent nipple, Sparse eyelashes, Lipodystrophy, Redundant skin, Sparse eyebr... |
OMIM:209885 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Infantile Krabbe Disease |
|
Failure to thrive, Hypopigmented skin patches, Cachexia |
ORPHA:206436 |
Toriello-Lacassie-Droste Syndrome |
|
Aplasia/Hypoplasia of the skin, Failure to thrive, Polyhydramnios |
ORPHA:3339 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Purpura, Petechiae, Weight loss |
ORPHA:85450 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Recurrent skin infections, Foot joint contracture, Flexion contracture, Atrophic scars, Palmoplan... |
ORPHA:79408 |
Trisomy 18 |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Hernia, Webbed n... |
ORPHA:3380 |
Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Dry skin, Weight loss |
ORPHA:199299 |
Cystic Echinococcosis |
|
Localized skin lesion, Weight loss |
ORPHA:400 |
Kindler Syndrome |
|
Dermal atrophy, Diffuse skin atrophy, Spotty hypopigmentation, Palmoplantar hyperkeratosis |
OMIM:173650 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Alopecia, Reduced subcutaneous a... |
OMIM:248370 |
Brucellosis |
|
Small for gestational age, Miscarriage, Weight loss, Erythematous papule, Cutaneous cyst, Pleural... |
ORPHA:1304 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Dry hair, Small for gestational age, Abnormal hair morpholog... |
OMIM:133540 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Dysosteosclerosis |
|
Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology |
ORPHA:1782 |
Adams-Oliver Syndrome 5 |
|
Inguinal hernia, Aplasia cutis congenita, Cutis marmorata telangiectatica congenita, Umbilical he... |
OMIM:616028 |
Postinfectious Vasculitis |
|
Palpable purpura, Inflammatory abnormality of the skin, Subcutaneous nodule, Weight loss |
ORPHA:48435 |
Nocardiosis |
|
Subcutaneous nodule, Weight loss, Cellulitis, Pleural effusion, Cutaneous abscess |
ORPHA:31204 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Lower-limb joint contracture, Upper-limb joint contracture, Cachexia |
ORPHA:300605 |
Behçet Disease |
|
Acne, Subcutaneous nodule, Weight loss, Pleural effusion, Papule |
ORPHA:117 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Acral ulceration, Nail dystrophy, Corneal scarring |
OMIM:256800 |
Whipple Disease |
|
Cachexia, Pedal edema |
ORPHA:3452 |
Primary Sclerosing Cholangitis |
|
Pruritus, Pleural effusion, Ascites, Weight loss |
ORPHA:171 |
Parkes Weber Syndrome |
|
Scaling skin, Erythematous plaque, Capillary malformation, Skin ulcer |
ORPHA:90307 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Death in early adulthood, Slender build, Cachexia, Weight loss |
OMIM:603041 |
Proteus Syndrome |
|
Epidermal nevus, Abnormal dental enamel morphology, Cachexia, Lymphedema, Abnormal subcutaneous f... |
ORPHA:744 |
Acute Adrenal Insufficiency |
|
Dry skin, Failure to thrive, Sparse axillary hair, Weight loss |
ORPHA:95409 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Failure to thrive, Ankle flexion contracture, Polyhydramnios, Flexion contractur... |
ORPHA:2020 |
Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor, Weight loss |
ORPHA:29072 |
Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
Sarcoidosis |
|
Alopecia, Maculopapular exanthema, Scarring, Erythema nodosum, Skin nodule, Subcutaneous nodule, ... |
ORPHA:797 |
Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Alopecia totalis, Hypermelanotic macule, Loss of eyelashes, Absence of subcutaneo... |
ORPHA:740 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Acral ulceration |
OMIM:201300 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hydrops fetalis, Weight loss |
OMIM:613673 |
Familial Glucocorticoid Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:361 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Skin rash, Weight loss |
OMIM:301074 |
Solitary Fibrous Tumor |
|
Weight loss |
ORPHA:2126 |
Gallbladder Neuroendocrine Tumor |
|
Ascites, Weight loss |
ORPHA:100086 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Failure to thrive, Ascites, Acral ulceration, Corneal scarring |
OMIM:256810 |
Immunodeficiency 82 With Systemic Inflammation |
|
Recurrent skin infections, Skin rash, Weight loss, Postauricular pit, Joint swelling, Pustular rash |
OMIM:619381 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss, Joint swelling, Flexion contracture, Enthesitis |
ORPHA:85408 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Weight loss, Pallor, Abnormal hair quantity |
ORPHA:91347 |
Castleman Disease |
|
Anasarca, Weight loss |
ORPHA:160 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Small for gestational age, Absent ... |
OMIM:268400 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Acral ulceration |
OMIM:608654 |
Riddle Syndrome |
|
Erythema, Scaling skin, Weight loss |
ORPHA:420741 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Congenital diap... |
ORPHA:2556 |
Bronchial Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97287 |
Familial Colorectal Cancer Type X |
|
Flexion contracture, Weight loss |
ORPHA:440437 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Acral ulceration |
OMIM:256840 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss |
ORPHA:54251 |
Thymoma |
|
Weight loss |
ORPHA:99867 |
Neuroendocrine Tumor Of The Colon |
|
Weight loss |
ORPHA:100080 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Ecchymosis, Skin ulcer, Cachexia |
ORPHA:2072 |
Ppoma |
|
Ascites, Subcutaneous lipoma, Weight loss |
ORPHA:97278 |
Rett Syndrome |
|
Cachexia |
OMIM:312750 |
Scalp-Ear-Nipple Syndrome |
|
Palpebral edema, Sparse axillary hair, Sparse pubic hair, Fine hair, Multiple lipomas, Patchy alo... |
OMIM:181270 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Penetrating foot ulcers |
ORPHA:99956 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Edema, Weight loss |
ORPHA:309031 |
Fanconi Anemia |
|
Hypopigmented skin patches, Weight loss, Multiple cafe-au-lait spots, Umbilical hernia, Oligohydr... |
ORPHA:84 |
Xeroderma Pigmentosum, Complementation Group A |
|
Dermal atrophy, Erythematous papule, Hypermelanotic macule, Verrucous epidermal nevus |
OMIM:278700 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Oculoectodermal Syndrome |
|
Epidermal nevus, Supernumerary nipple, Aplasia cutis congenita, Lymphedema, Preauricular skin tag |
OMIM:600268 |
Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
Neuroendocrine Tumor Of The Rectum |
|
Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Weight loss |
ORPHA:100082 |
Addison Disease |
|
Dry skin, Failure to thrive, Sparse axillary hair, Weight loss |
ORPHA:85138 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Dry hair, Cachexia, Fine hair, Contractures of the large joi... |
ORPHA:191 |
Somatostatinoma |
|
Ascites, Subcutaneous lipoma, Weight loss |
ORPHA:97283 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss |
OMIM:607459 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Zollinger-Ellison Syndrome |
|
Lipoma, Multiple lipomas, Erythema, Weight loss |
ORPHA:913 |
African Trypanosomiasis |
|
Erythematous macule, Alopecia, Miscarriage, Pruritus, Weight loss |
ORPHA:3385 |
Grfoma |
|
Ascites, Subcutaneous lipoma, Weight loss |
ORPHA:97261 |
Ileal Neuroendocrine Tumor |
|
Edema, Weight loss |
ORPHA:100078 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
Multiple Myeloma |
|
Pleural effusion, Weight loss |
ORPHA:29073 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Multiple cafe-au-lait spots, Cachexia, Melanocytic nevus |
ORPHA:1969 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Aplasia/Hypoplasia of the skin, Femoral hernia, Abnormal dental enamel morpholog... |
ORPHA:2658 |
Seckel Syndrome |
|
Sparse scalp hair, Abnormal dental enamel morphology, Cachexia |
ORPHA:808 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Skin rash, Weight loss, Macular edema, Chorioretinal scar, Cystoid macular edema |
ORPHA:91500 |
Split Cord Malformation |
|
Tufted hairs, Penetrating foot ulcers, Skin dimple, Hydromyelia, Lipoma, Hypertrichosis |
ORPHA:573278 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Igg4-Related Kidney Disease |
|
Inflammatory abnormality of the skin, Pedal edema, Weight loss |
ORPHA:449395 |
Pulmonary Alveolar Microlithiasis |
|
Peripheral edema, Weight loss |
ORPHA:60025 |
Neuroendocrine Tumor Of Stomach |
|
Weight loss |
ORPHA:100075 |
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, Xerostomia, Palpebral edema, Weight loss |
ORPHA:79078 |
Marfan Syndrome |
|
Inguinal hernia, Slender build, Cachexia, Striae distensae |
ORPHA:558 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Low anterior hairline, Cachexia, Abnormal hair morphology |
ORPHA:647 |
Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
Leukocyte Adhesion Deficiency |
|
Recurrent skin infections, Perianal abscess, Pyoderma gangrenosum, Nail dystrophy, Chronic oral c... |
ORPHA:2968 |
Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Pleural effusion, Weight loss |
OMIM:181000 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Familial Pancreatic Carcinoma |
|
Weight loss |
ORPHA:1333 |
Adenocarcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424016 |
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 |
Branchiooculofacial Syndrome |
|
Preauricular pit, Supernumerary nipple, Lower lip pit, Elbow flexion contracture, Dermoid cyst, L... |
OMIM:113620 |
Camurati-Engelmann Disease |
|
Abnormal subcutaneous fat tissue distribution, Slender build, Cachexia |
ORPHA:1328 |
Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
Stickler Syndrome |
|
Slender build, Abnormal dental enamel morphology, Cachexia |
ORPHA:828 |
Tropical Endomyocardial Fibrosis |
|
Cachexia, Peripheral edema, Ascites, Pedal edema |
ORPHA:75565 |
Choreoacanthocytosis |
|
Weight loss |
ORPHA:2388 |
Goodpasture Syndrome |
|
Pallor, Weight loss |
OMIM:233450 |
Norrie Disease |
|
Failure to thrive, Cachexia |
ORPHA:649 |