Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation |
OMIM:613737 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections, Edema |
ORPHA:345 |
Acne Inversa, Familial, 1 |
|
Acne inversa |
OMIM:142690 |
Chilblain Lupus 2 |
|
Chilblains |
OMIM:614415 |
Immunodeficiency 51 |
|
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... |
OMIM:613953 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Lymphatic Malformation 3 |
|
Recurrent skin infections, Lymphedema |
OMIM:613480 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:94090 |
Kerion Celsi |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... |
ORPHA:499 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Paget Disease, Extramammary |
|
Eczematoid dermatitis |
OMIM:167300 |
Familial Reactive Perforating Collagenosis |
|
Inflammatory abnormality of the skin, Maculopapular exanthema, Crusting erythematous dermatitis, ... |
ORPHA:79147 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro... |
OMIM:231100 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Pruritus, Erythroderma |
ORPHA:280785 |
Chronic Actinic Dermatitis |
|
Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Late onset atopic dermatitis, Pruritus |
ORPHA:330064 |
Intellectual Developmental Disorder, Fra12A Type |
|
Erythroderma |
OMIM:136630 |
Amyloidosis, Hereditary Systemic 2 |
|
Renal amyloidosis, Cholestasis, Splenomegaly, Generalized amyloid deposition, Hepatomegaly |
OMIM:105200 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Erythroderma, Lethal Congenital |
|
Congenital exfoliative erythroderma |
OMIM:227090 |
Myeloma, Multiple |
|
Amyloidosis |
OMIM:254500 |
Amyloidosis, Primary Localized Cutaneous, 2 |
|
Cutaneous amyloidosis |
OMIM:613955 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level |
OMIM:601198 |
Amyloidosis, Cutaneous Bullous |
|
Amyloidosis |
OMIM:204900 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al... |
ORPHA:33402 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Cutaneous abscess |
OMIM:619986 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation |
OMIM:613736 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis |
OMIM:260910 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:618618 |
Pityriasis Rubra Pilaris |
|
Pustule, Pruritus, Erythroderma, Eczematoid dermatitis |
ORPHA:2897 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
Variant Abeta2M Amyloidosis |
|
Renal amyloidosis, Amyloidosis of peripheral nerves, Hepatic amyloidosis, Cutaneous amyloidosis, ... |
ORPHA:314652 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Blue Diaper Syndrome |
|
Hypercalcemia, Hyperphosphatemia |
ORPHA:94086 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma |
OMIM:615022 |
Erythroderma Desquamativum |
|
Seborrheic dermatitis |
ORPHA:314 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Amyloidosis |
OMIM:204850 |
Erythema Nodosum, Familial |
|
Erythema nodosum |
OMIM:132990 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin |
ORPHA:464318 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Erythroderma |
OMIM:133200 |
Epidermolytic Hyperkeratosis 1 |
|
Erythroderma |
OMIM:113800 |
Candidiasis, Familial, 8 |
|
Cheilitis, Seborrheic dermatitis, Blepharitis, Chronic oral candidiasis |
OMIM:615527 |
Ige Responsiveness, Atopic |
|
Allergic rhinitis, Increased circulating IgE level, Eczematoid dermatitis |
OMIM:147050 |
Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Pruritus, Erythroderma, Polyhydramnios |
OMIM:608649 |
Impaired Intellectual Development And Psoriasis |
|
Psoriasiform dermatitis |
OMIM:309480 |
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome |
|
Psoriasiform dermatitis |
ORPHA:3052 |
Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... |
ORPHA:139507 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Cutaneous amyloidosis |
OMIM:105250 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis |
OMIM:610227 |
Aa Amyloidosis |
|
Cholestasis, Hepatomegaly, Renal amyloidosis, Amyloidosis |
ORPHA:85445 |
Netherton Syndrome |
|
Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Angioedema, Increased ... |
OMIM:256500 |
Immunodeficiency 15A |
|
Acne inversa, Chronic mucocutaneous candidiasis, Cutaneous abscess, Recurrent otitis media, Recur... |
OMIM:618204 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Generalized amyloid deposition |
OMIM:105150 |
Immunodeficiency 66 |
|
Pustule, Defective T cell proliferation, Recurrent skin infections |
OMIM:618847 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:36913 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Erythroderma |
OMIM:615024 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant |
|
Erythroderma |
OMIM:620150 |
Immunodeficiency 25 |
|
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... |
OMIM:610163 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule |
OMIM:614328 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Pruritus, Erythroderma |
OMIM:270300 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Seborrheic dermatitis, Eczematoid dermatitis |
OMIM:619693 |
Epidermodysplasia Verruciformis |
|
Pustule, Seborrheic dermatitis, Recurrent skin infections |
ORPHA:302 |
Quinquaud Folliculitis Decalvans |
|
Pustule, Recurrent skin infections |
ORPHA:346 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Eczematoid dermatitis |
OMIM:300988 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Angioedema, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Ery... |
ORPHA:139402 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ... |
OMIM:618944 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis |
OMIM:613148 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Hepatitis, Otitis media, Increas... |
ORPHA:169160 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:94089 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, Erythroderma, Pruritus |
ORPHA:79481 |
Congenital Ichthyosiform Erythroderma |
|
Pruritus, Keratitis, Erythroderma |
ORPHA:79394 |
Keratolytic Winter Erythema |
|
Pustule |
ORPHA:50943 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma |
ORPHA:1954 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase |
ORPHA:99845 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Skin rash, Thin skin |
ORPHA:1658 |
Complement Component 5 Deficiency |
|
Generalized seborrheic dermatitis |
OMIM:609536 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level, Late onset atopic dermatitis |
OMIM:221700 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Amyloidosis, Cutaneous macular amyloidosis |
OMIM:615225 |
Mycosis Fungoides |
|
Pruritus, Psoriasiform dermatitis, Eczematoid dermatitis |
OMIM:254400 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA level, Oligoart... |
OMIM:619510 |
Hydroa Vacciniforme |
|
Papulovesicular eruption, Keratitis, Eczematoid dermatitis, Malar rash, Superficial dermal periva... |
ORPHA:330058 |
Bullous Impetigo |
|
Pustule, Septic arthritis, Recurrent bacterial skin infections |
ORPHA:36237 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Erythroderma |
OMIM:618840 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:241410 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... |
OMIM:251880 |
Chilblain Lupus |
|
Discoid lupus rash, Inflammatory abnormality of the skin, Malar rash, Skin rash, Increased circul... |
ORPHA:90280 |
Psoriasis 15, Pustular, Susceptibility To |
|
Psoriasiform dermatitis |
OMIM:616106 |
Acys Amyloidosis |
|
Amyloidosis, Cerebral amyloid angiopathy |
ORPHA:100008 |
Dermatitis, Atopic |
|
Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Pruritus, Conjunctivitis, Recurrent ... |
OMIM:603165 |
Sézary Syndrome |
|
Abnormal immunoglobulin level, Pruritus, Erythroderma, Edema |
ORPHA:3162 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hypercalcemia, Hyperphosphatemia, Calcinosis |
OMIM:211900 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Netherton Syndrome |
|
Eczematoid dermatitis, Increased circulating IgE level, Skin rash, Erythroderma, Decreased circul... |
ORPHA:634 |
Lamellar Ichthyosis |
|
Pruritus, Erythroderma, Chronic otitis media, Dehydration |
ORPHA:313 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma |
ORPHA:312 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Hyperphosphatemia |
OMIM:617994 |
Familial Mediterranean Fever |
|
Renal amyloidosis, Splenomegaly, Amyloidosis, Peritonitis, Elevated circulating C-reactive protei... |
OMIM:249100 |
Immunodeficiency 58 |
|
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... |
OMIM:618131 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
Aapoaiv Amyloidosis |
|
Renal amyloidosis, Elevated circulating creatinine concentration, Hyperlipidemia, Cutaneous amylo... |
ORPHA:439232 |
Wiskott-Aldrich Syndrome 2 |
|
Reduced natural killer cell activity, Defective T cell proliferation, Eczematoid dermatitis |
OMIM:614493 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu... |
OMIM:617638 |
Idiopathic Trachyonychia |
|
Amyloidosis |
ORPHA:79153 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa... |
OMIM:201475 |
Periodic Fever, Familial, Autosomal Dominant |
|
Hepatomegaly, AA amyloidosis, Hepatic amyloidosis |
OMIM:142680 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
ORPHA:71212 |
Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90160 |
Carcinoid Syndrome |
|
Abnormal circulating B-type natriuretic peptide concentration, Hepatic necrosis, Elevated circula... |
ORPHA:100093 |
Elastoderma |
|
Eczematoid dermatitis, Erysipelas |
ORPHA:228240 |
Omenn Syndrome |
|
Pneumonia, Thyroiditis, Erythroderma, Pruritus, Edema |
ORPHA:39041 |
Harlequin Ichthyosis |
|
Erythroderma, Dehydration |
ORPHA:457 |
Ichthyosis With Erythrokeratoderma |
|
Pruritus, Erythroderma |
OMIM:620507 |
Generalized Pustular Psoriasis |
|
Palmoplantar pustulosis, Pustule, Erythroderma, Arthritis, Cheilitis, Pedal edema, Uveitis |
ORPHA:247353 |
Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia |
OMIM:127000 |
Protoporphyria, Erythropoietic, 1 |
|
Pruritus, Eczematoid dermatitis, Edema |
OMIM:177000 |
Ichthyosis With Confetti |
|
Pruritus, Erythroderma |
OMIM:609165 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Punctate keratitis, Erythroderma |
OMIM:602540 |
Phoar2-Enteropathy Syndrome |
|
Seborrheic dermatitis, Acne |
OMIM:614441 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... |
ORPHA:94093 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Facial edema, Predominantly lower limb lymphedema, Genital edema, Edema of the dorsum of hands, R... |
ORPHA:568051 |
Copper Deficiency, Familial Benign |
|
Seborrheic dermatitis |
OMIM:121270 |
Amyloidosis, Finnish Type |
|
Generalized amyloid deposition, Renal glomerular amyloid deposition, Cardiac amyloidosis |
OMIM:105120 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased specific anti-polysaccharide antibody level, Eczematoid dermatitis, Increased circulati... |
OMIM:606367 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Increased circulating IgE level, Psoriasiform dermatitis, Eosinophilic infiltration of the esopha... |
OMIM:615508 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate |
ORPHA:87503 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis |
OMIM:231530 |
Q Fever |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatosplenomegaly, Abnormali... |
ORPHA:781 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise |
ORPHA:423 |
Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level, Inflammatory abnormality of the skin |
ORPHA:90159 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Erythroderma, Glomerulonephrit... |
OMIM:304790 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... |
OMIM:618282 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Erythroderma |
OMIM:604777 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
Amyloidosis, Hereditary Systemic 1 |
|
Amyloidosis |
OMIM:105210 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Erythroderma |
OMIM:615023 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis |
ORPHA:79099 |
Diffuse Cutaneous Mastocytosis |
|
Pruritus, Erythroderma, Peau d'orange |
ORPHA:79456 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:618913 |
Meige Disease |
|
Facial edema, Predominantly lower limb lymphedema, Lymphedema, Peripheral edema, Pleural effusion... |
ORPHA:90186 |
Autosomal Erythropoietic Protoporphyria |
|
Pruritus, Eczematoid dermatitis, Edema |
ORPHA:79278 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Perianal abscess, Folliculitis, Enterocolitis, Pancolitis |
OMIM:612567 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma |
OMIM:242300 |
Pseudohypoparathyroidism Type 1C |
|
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures |
ORPHA:79444 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Spinocerebellar Ataxia 34 |
|
Erythroderma |
OMIM:133190 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Decreased circulating antibody level, Skin rash, Infectious encephalitis, Erythroderma, Reduced n... |
ORPHA:540 |
Papa Syndrome |
|
Crohn's disease, Increased inflammatory response, Myositis, Increased circulating antibody level,... |
ORPHA:69126 |
Leigh Syndrome, Nuclear |
|
Hepatocellular necrosis |
OMIM:256000 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Seborrheic dermatitis, Acne |
OMIM:167100 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... |
ORPHA:26791 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Splenomegaly, Amyloidosis |
ORPHA:98849 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia |
OMIM:101800 |
Bathing Suit Ichthyosis |
|
Erythroderma |
ORPHA:100976 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgA ... |
ORPHA:169154 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdome... |
ORPHA:64745 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Partial absence of specific antibody response to tetanus vac... |
OMIM:618108 |
Pseudohypoparathyroidism Type 1A |
|
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures |
ORPHA:79443 |
Majeed Syndrome |
|
Osteomyelitis, Joint swelling, Inflammatory abnormality of the skin, Skin rash |
OMIM:609628 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Erythroderma |
OMIM:612281 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pleural effusion, Skin rash, Joint swelling, Arthritis, Juvenile rheumatoid art... |
ORPHA:85414 |
Zinc Deficiency, Transient Neonatal |
|
Eczematoid dermatitis |
OMIM:608118 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Erythroderma, Thin skin |
OMIM:615895 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia |
ORPHA:93325 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatic failure, Micronodular cirrhosis, Hepatocellular necrosis, Cholestasis, Acute hepatic fail... |
OMIM:256810 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating glutaric acid concentration, Hepatic periportal necrosis, Hepatic steatosis,... |
OMIM:231680 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Refractory Celiac Disease |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Idiopathic Localized Lipodystrophy |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:90158 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Conjunctivitis, Erythroderma |
OMIM:242150 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
Yao Syndrome |
|
Uveitis, Inflammatory abnormality of the skin, Xerostomia, Skin rash, Keratoconjunctivitis sicca,... |
OMIM:617321 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem... |
ORPHA:157215 |
Pachydermoperiostosis |
|
Eczematoid dermatitis, Osteomyelitis, Joint swelling, Seborrheic dermatitis, Arthritis, Acne, Edema |
ORPHA:2796 |
Hypomagnesemia 3, Renal |
|
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... |
OMIM:248250 |
Congenital Disorder Of Glycosylation, Type If |
|
Erythroderma |
OMIM:609180 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent pneumonia, Inflammatory abnormality of the skin, Lack of T cell function, Recurrent oti... |
ORPHA:277 |
Biotinidase Deficiency |
|
Conjunctivitis, Recurrent skin infections, Skin rash, Seborrheic dermatitis |
OMIM:253260 |
Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Periorbital edema, Cheilitis, Edema |
ORPHA:2483 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... |
ORPHA:31824 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Stomatitis |
OMIM:246400 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia |
ORPHA:340 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Polyhydramnios, Erythroderma, Edema |
OMIM:302960 |
Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Splenomegaly, Amyloidosis, Peritonitis, Pancreatitis |
ORPHA:342 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Cutaneous amyloidosis |
OMIM:301220 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241530 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Eczematoid dermatitis, Angioedema, Pleural effusion, Joint ... |
ORPHA:3260 |
Cystinosis |
|
Hypokalemia, Hypophosphatemia |
ORPHA:213 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Seborrheic dermatitis, Eczematoid dermatitis, Arthritis |
OMIM:259100 |
Omenn Syndrome |
|
Pneumonia, Erythroderma |
OMIM:603554 |
Sapho Syndrome |
|
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... |
ORPHA:793 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia |
OMIM:264700 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypophosphatemia, Hypercalcemia |
OMIM:600740 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Decreased circulating antibody level, Erythroderma |
OMIM:617425 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Erythroderma |
ORPHA:35173 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:619743 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Hypophosphatemia |
OMIM:605911 |
Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level, Keratoconjunctivitis sicca, Erythroderma |
OMIM:601675 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:307800 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypophosphatemia |
OMIM:616026 |
Alkaptonuria |
|
Black pigment gallstones, Amyloidosis |
ORPHA:56 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Synovitis, Pustule, Abnormal inflammatory re... |
ORPHA:77297 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Transketolase Deficiency |
|
Conjunctivitis, Seborrheic dermatitis, Uveitis |
ORPHA:488618 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Cirrhosis, Hepatic necrosis |
OMIM:127550 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... |
OMIM:227810 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:300554 |
Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Hypercalcemia, Calcinosis |
OMIM:239200 |
Acute Liver Failure |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatocellular necrosis, Hepa... |
ORPHA:90062 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Elevated circulating C-reactive protein concentration, Renal amyloidosis |
OMIM:120100 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
Muckle-Wells Syndrome |
|
Elevated circulating C-reactive protein concentration, Renal amyloidosis |
OMIM:191900 |
Blau Syndrome |
|
Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Joint swelling, Cystoid macular edema, ... |
OMIM:186580 |
Vexas Syndrome |
|
Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Nasal cho... |
OMIM:301054 |
Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... |
ORPHA:411634 |
Centrifugal Lipodystrophy |
|
Inflammatory abnormality of the skin, Lymphadenitis |
ORPHA:90156 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia |
ORPHA:289157 |
Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hypertriglyceridemia |
ORPHA:2088 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hypophosphatemia, Hyperuricemia |
ORPHA:469 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic steatosis, Hepatomegaly, Unco... |
OMIM:618278 |
Multiple Endocrine Neoplasia, Type Iia |
|
Cutaneous lichen amyloidosis |
OMIM:171400 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Seborrheic dermatitis |
OMIM:210210 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Peritonitis, Renal amyloidosis |
OMIM:134610 |
Trichothiodystrophy |
|
Eczematoid dermatitis, Panhypogammaglobulinemia, Congenital exfoliative erythroderma, Keratoconju... |
ORPHA:33364 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia |
ORPHA:405 |
Monosomy 22 |
|
Seborrheic dermatitis, Joint swelling |
ORPHA:96123 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Ascites, Seborrheic dermatitis, Aspiration pneumonia |
OMIM:301072 |
Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
Alport Syndrome 3A, Autosomal Dominant |
|
Hypophosphatemia, Azotemia |
OMIM:104200 |
Infantile Nephropathic Cystinosis |
|
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Pneumonia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis, Increased circ... |
ORPHA:37042 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... |
ORPHA:3337 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c... |
ORPHA:79102 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Seborrheic dermatitis, Eczematoid dermatitis |
ORPHA:369950 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Lysinuric Protein Intolerance |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis, Hepatome... |
ORPHA:470 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Polyhydramnios, Seborrheic dermatitis, Hydrops fetalis |
OMIM:300868 |
Multiple Endocrine Neoplasia Type 2 |
|
Cutaneous lichen amyloidosis, Neoplasm of the liver, Hypercalcemia |
ORPHA:653 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Seborrheic dermatitis |
ORPHA:276280 |
Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:249 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Seborrheic dermatitis, Decreased circu... |
OMIM:274000 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Renal amyloidosis, Splenomegaly |
ORPHA:575 |
Inherited Creutzfeldt-Jakob Disease |
|
Amyloidosis of peripheral nerves |
ORPHA:282166 |
Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Hypomagnesemia, Hypophosphatemic rickets, Hypokale... |
OMIM:219800 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Eczematoid dermatitis, Superficial dermal perivascular inflammatory infiltrate, Seborrheic dermat... |
ORPHA:83617 |
Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
Mccune-Albright Syndrome |
|
Hypophosphatemia |
ORPHA:562 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Seborrheic dermatitis, Arthritis, Polyhydramnios, Acne, Chronic otitis ... |
ORPHA:567 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi... |
OMIM:102700 |
Pearson Syndrome |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia |
ORPHA:699 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiac amyloidosis |
ORPHA:85451 |
Fructose Intolerance, Hereditary |
|
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia |
OMIM:229600 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia |
ORPHA:534 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Hydromyelia, Keratitis, Eczematoid dermatitis, Oligohydramnios, Erythroderma, Recurrent skin infe... |
OMIM:308205 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
Parathyroid Carcinoma |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
Dent Disease |
|
Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Hypophosphatemic rickets |
ORPHA:289176 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:667 |
Digeorge Syndrome |
|
Recurrent pneumonia, Impaired T cell function, Recurrent otitis media, Recurrent sinusitis, Sebor... |
OMIM:188400 |
X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Renal amyloidosis, Abnormal circulating selenium concentration, Decreased plasma total carnitine,... |
ORPHA:79408 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis |
ORPHA:69063 |
Spinocerebellar Ataxia Type 43 |
|
|
ORPHA:497764 |
Spinocerebellar Ataxia 43 |
|
|
OMIM:617018 |
Charcot-Marie-Tooth Disease, Axonal, Type 2T |
|
|
OMIM:617017 |