Takayasu Arteritis |
|
Arteritis |
OMIM:207600 |
Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa |
OMIM:613737 |
Candidiasis, Familial, 6 |
|
Chronic mucocutaneous candidiasis |
OMIM:613956 |
Lymphoblastic Transformation, Intrinsic Defect In |
|
Chronic mucocutaneous candidiasis |
OMIM:247450 |
Lymphoblastic Transformation, Inhibition Of |
|
Chronic mucocutaneous candidiasis |
OMIM:247430 |
Lymphokine Deficiency |
|
Chronic mucocutaneous candidiasis |
OMIM:247650 |
Acne Inversa, Familial, 1 |
|
Acne inversa |
OMIM:142690 |
Chilblain Lupus 2 |
|
Chilblains |
OMIM:614415 |
Fever, Familial Lifelong Persistent |
|
Fever |
OMIM:228400 |
Temporal Arteritis |
|
Retinal arteritis |
OMIM:187360 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... |
ORPHA:64745 |
Linear Atrophoderma Of Moulin |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:140933 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin |
OMIM:602723 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Vasculitis, Lymphocytic, Nodular |
|
Nodular inflammatory vasculitis |
OMIM:192310 |
Felty Syndrome |
|
Rheumatoid arthritis |
OMIM:134750 |
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency |
|
Fever |
ORPHA:183713 |
Factor V Excess With Spontaneous Thrombosis |
|
Peripheral arterial stenosis, Pulmonary embolism |
OMIM:134400 |
Immunodeficiency 51 |
|
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... |
OMIM:613953 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid... |
ORPHA:90280 |
Aneurysm Of Interventricular Septum |
|
Vascular dilatation |
OMIM:105805 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Porokeratosis Plantaris Palmaris Et Disseminata |
|
Pruritus, Hyperkeratotic papule, Palmoplantar hyperkeratosis, Porokeratosis |
ORPHA:737 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Generalized ichthyosis, Er... |
OMIM:612281 |
Vein Of Galen Aneurysmal Malformation |
|
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:1053 |
Osteoarthritis Susceptibility 3 |
|
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... |
OMIM:607850 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule |
ORPHA:464318 |
Glycoprotein Storage Disease |
|
Gout |
OMIM:232900 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid factor positive, Pruritus, Erythema, Rheumatoid ... |
ORPHA:79099 |
Chondrocalcinosis 2 |
|
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis |
OMIM:118600 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... |
OMIM:604777 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Dilated cardiomyopathy, Ventricular tachycardia, Erythema, Hyperkeratosi... |
OMIM:615821 |
Cardiomyopathy, Dilated, 1B |
|
Vascular dilatation, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial contra... |
OMIM:600884 |
Mannose-Binding Lectin Deficiency |
|
Recurrent Klebsiella infections, Failure to thrive, Recurrent skin infections, Recurrent meningoc... |
OMIM:614372 |
Familial Cold Autoinflammatory Syndrome 4 |
|
Fever |
OMIM:616115 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Cholangitis, Pustule, Erythema, Oligoarthritis, Polyartic... |
OMIM:614204 |
Telangiectasia, Hereditary Benign |
|
Diffuse telangiectasia, Vascular dilatation |
OMIM:187260 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Autoimmunity, Acantholysis, Pustule, Pruritus, Crusting erythematous der... |
ORPHA:79481 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr... |
ORPHA:85410 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratos... |
ORPHA:79503 |
Anhidrosis, Isolated, With Normal Sweat Glands |
|
Heat intolerance |
OMIM:106190 |
Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Porokeratosis |
ORPHA:735 |
Paget Disease, Extramammary |
|
Eczematoid dermatitis |
OMIM:167300 |
Hypoalphalipoproteinemia, Primary, 1 |
|
Myocardial infarction, Premature coronary artery atherosclerosis |
OMIM:604091 |
Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
Aquagenic Palmoplantar Keratoderma |
|
Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Systemic lupus erythe... |
ORPHA:498359 |
Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections |
ORPHA:345 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Skin rash, Retinal arteriolar constriction, Peripheral arterial stenosis |
OMIM:124950 |
Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis |
ORPHA:139414 |
Chondrocalcinosis 1 |
|
Osteoarthritis, Chondrocalcinosis |
OMIM:600668 |
Bathing Suit Ichthyosis |
|
Parakeratosis, Multiple joint contractures, Thickened skin, Palmoplantar hyperkeratosis, Ichthyos... |
ORPHA:100976 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Coronary Artery Dissection, Spontaneous |
|
Cystic medial necrosis, Coronary artery dissection |
OMIM:122455 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Heparin Cofactor Ii Deficiency |
|
Post-angioplasty coronary artery restenosis |
OMIM:612356 |
Moyamoya Disease 1 |
|
Carotid artery occlusion, Inflammatory arteriopathy, Telangiectasia |
OMIM:252350 |
Rheumatoid Arthritis |
|
Rheumatoid factor positive, Joint stiffness, Vasculitis, Anti-citrullinated protein antibody posi... |
OMIM:180300 |
Olmsted Syndrome 2 |
|
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... |
OMIM:619208 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
Kerion Celsi |
|
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... |
ORPHA:499 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:200400 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Posterior blepharitis, Palmoplantar hyperkeratosis, Hype... |
OMIM:300918 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Flexion contracture, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyo... |
OMIM:242300 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Abnormality of the knee, Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Erythema migrans, ... |
ORPHA:158681 |
Acquired Ichthyosis |
|
Recurrent skin infections, Autoimmunity, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratod... |
ORPHA:454 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... |
ORPHA:494424 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Fever |
ORPHA:319600 |
Bazex Syndrome |
|
Parakeratosis, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosis nigri... |
ORPHA:166113 |
Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
Ulerythema Ophryogenesis |
|
Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermat... |
ORPHA:3406 |
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome |
|
Psoriasiform dermatitis, Ichthyosis |
ORPHA:3052 |
Mycosis Fungoides |
|
Pruritus, Erythema, Psoriasiform dermatitis, Eczema |
OMIM:254400 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Hypotrichosis Simplex Of The Scalp |
|
Parakeratosis, Allergic rhinitis, Pruritus, Atopic dermatitis, Hyperkeratosis, Scaling skin |
ORPHA:90368 |
Vulvovaginal Gingival Syndrome |
|
Pruritus, Parakeratosis, Erythema |
ORPHA:83453 |
Subcorneal Pustular Dermatosis |
|
Autoimmunity, Pustule, Pruritus, Erythema, Systemic lupus erythematosus, Rheumatoid arthritis |
ORPHA:48377 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... |
OMIM:601952 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Scaling skin on fingertip, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis,... |
ORPHA:79395 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... |
ORPHA:79147 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Abnormal sacroiliac joint morp... |
ORPHA:324964 |
Secondary Non-Traumatic Avascular Necrosis |
|
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:399180 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Rheumatoid a... |
ORPHA:95459 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... |
OMIM:617571 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer |
ORPHA:2337 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:617574 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Cutaneous abscess |
OMIM:619986 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Skin ulcer, Hyperkeratosis, Ichthyosis, Palmoplantar keratoderma, Congenital bullou... |
ORPHA:312 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Fl... |
ORPHA:87503 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... |
OMIM:615508 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... |
OMIM:185500 |
Familial Aortic Dissection |
|
Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extrac... |
ORPHA:229 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Rheumatoid arthritis, Skin ve... |
ORPHA:48104 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Psoriasis 1, Susceptibility To |
|
Arthritis, Psoriasiform dermatitis |
OMIM:177900 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae |
ORPHA:50809 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis, Autoimmunity |
OMIM:216950 |
Erythema Nodosum, Familial |
|
Erythema nodosum |
OMIM:132990 |
Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis |
OMIM:182260 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis |
OMIM:260910 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis, Joint stiffness |
OMIM:617756 |
Bullous Pemphigoid |
|
Erythema, Psoriasiform dermatitis, Autoimmunity, Eczema |
ORPHA:703 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Parakeratosis, Maculopapular exanthema, Skin rash, Heart block, Dilated ca... |
ORPHA:398124 |
Subacute Cutaneous Lupus Erythematosus |
|
Antiphospholipid antibody positivity, Rheumatoid factor positive, Psoriasiform lesion, Anti-histo... |
ORPHA:163525 |
Chilblain Lupus 1 |
|
Raynaud phenomenon, Antinuclear antibody positivity, Chilblains, Skin ulcer |
OMIM:610448 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Flexion contracture, Limitation of jo... |
ORPHA:231 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... |
OMIM:301054 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Erythema, Hyperparakeratosis, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform eryth... |
OMIM:607602 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis |
OMIM:609655 |
Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis |
OMIM:615612 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Joint swelling, Juvenile rheumatoid arth... |
ORPHA:85414 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Failure to thrive, Recurrent bacterial ... |
OMIM:616022 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
C1Q Deficiency 3 |
|
Discoid lupus rash |
OMIM:620322 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Chronic rhinitis, Finger join... |
OMIM:615225 |
Malignant Hyperthermia, Susceptibility To, 4 |
|
Malignant hyperthermia |
OMIM:600467 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis |
OMIM:101900 |
Kienbock Disease |
|
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist |
ORPHA:97332 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... |
OMIM:105835 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D... |
ORPHA:275 |
Kid Syndrome |
|
Angular cheilitis, Posterior blepharitis, Recurrent cutaneous fungal infections, Patellar hypopla... |
ORPHA:477 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Abno... |
ORPHA:793 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Abnormality of the knee, Psoriasiform dermatitis, Skin rash, Generalized mornin... |
ORPHA:85436 |
Netherton Syndrome |
|
Parakeratosis, Recurrent skin infections, Allergic rhinitis, Eczema, Chronic rhinitis, Erythroder... |
OMIM:256500 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Classic Mycosis Fungoides |
|
Skin rash, Eczema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin |
ORPHA:2584 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
Mental Retardation And Psoriasis |
|
Psoriasiform dermatitis |
OMIM:309480 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175900 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... |
OMIM:106300 |
Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Psoriasiform dermatitis, Blepharitis, Ichthyosis |
OMIM:616834 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pustule, Pruritus, Thickened skin, Ichthyosis, Palmoplantar ker... |
ORPHA:2897 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Gastritis, Familial Giant Hypertrophic |
|
Giant hypertrophic gastritis, Vascular dilatation |
OMIM:137280 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension, Patent ductus arteriosus, Arterial stenosis |
ORPHA:79094 |
Sudden Infant Death Syndrome |
|
Malignant hyperthermia |
OMIM:272120 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa |
ORPHA:79148 |
Osteochondrosis Of The Tarsal Bone |
|
Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho... |
ORPHA:563991 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Overlap Myositis |
|
Subluxation of the small joints of the hand, Autoimmunity, Raynaud phenomenon, Antinuclear antibo... |
ORPHA:206572 |
Atrophoderma Vermiculata |
|
Heart block, Pruritus, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule |
ORPHA:79100 |
Anonychia With Flexural Pigmentation |
|
Hyperkeratosis, Macular telangiectasia, Follicular hyperkeratosis |
ORPHA:69125 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
Takayasu Arteritis |
|
Increased inflammatory response, Hypertensive crisis, Myocardial infarction, Vasculitis, Arterial... |
ORPHA:3287 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma |
OMIM:133200 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Pruritus, Perifollicular hyperkeratosis |
ORPHA:505 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Parakeratosis, Portal hypertension, Pruritus, Sclerosing cholangitis, Ichthyosis, Orthokeratosis,... |
OMIM:607626 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A... |
ORPHA:183675 |
Lymphatic Malformation 3 |
|
Recurrent skin infections |
OMIM:613480 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Autoimmunity,... |
ORPHA:158061 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Autoimmune thro... |
OMIM:616100 |
White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Erythema, Atop... |
ORPHA:530838 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Otitis media, Recurrent vulvovag... |
ORPHA:331235 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... |
OMIM:617526 |
Dermatitis, Atopic |
|
Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic dermatitis, Facial erythem... |
OMIM:603165 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotri... |
OMIM:246700 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Pneumonia, Auto... |
ORPHA:436159 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin, Restricted chest movement |
ORPHA:2812 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... |
OMIM:208250 |
Psoriasis 15, Pustular, Susceptibility To |
|
Psoriasiform dermatitis |
OMIM:616106 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Increased inflammatory response, Protrusio acetabuli, Autoimmunity, Limitation of joi... |
ORPHA:2619 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Myocardial infarction, Premature coronary artery atherosclerosis |
OMIM:608320 |
Spondyloenchondrodysplasia |
|
Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Ray... |
ORPHA:1855 |
Chromomycosis |
|
Keratitis, Pruritus, Ankylosis, Hyperparakeratosis, Osteolysis, Hyperkeratosis, Keratoconjunctivi... |
ORPHA:182 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Camptodactyly of finger, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, ... |
OMIM:212360 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Osteolysis, Rh... |
ORPHA:100026 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis |
ORPHA:2297 |
Immunodeficiency 15A |
|
Chronic mucocutaneous candidiasis, Recurrent sinusitis, Recurrent otitis media, Acne inversa, Cut... |
OMIM:618204 |
Immunodeficiency 53 |
|
Recurrent otitis media, Recurrent pneumonia, Skin rash |
OMIM:617585 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
Ichthyosis Vulgaris |
|
Eczematoid dermatitis, Dry skin, Ichthyosis |
OMIM:146700 |
Igg4-Related Retroperitoneal Fibrosis |
|
Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Rheumatoid factor posi... |
ORPHA:49041 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Palmoplantar keratoderma, Cobblestone-li... |
OMIM:602540 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:79151 |
Pontiac Fever |
|
Fever |
ORPHA:99748 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Premature coronary artery atherosclerosis |
OMIM:618463 |
Radiation Proctitis |
|
Abnormal vascular morphology, Abnormal gastrointestinal vascular morphology, Arteritis, Hematochezia |
ORPHA:70475 |
Bleeding Disorder, Platelet-Type, 21 |
|
Psoriasiform dermatitis, Eczema |
OMIM:617443 |
Lymphoid Interstitial Pneumonia |
|
Skin rash, Eczema, Autoimmunity, Raynaud phenomenon, Autoimmune antibody positivity, Bronchiectas... |
ORPHA:79128 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Pruritus, Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis |
ORPHA:79399 |
Lichen Planus Pemphigoides |
|
Pruritus, Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis |
ORPHA:254478 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Congenital Atransferrinemia |
|
Arthritis |
ORPHA:1195 |
Myasthenia Gravis |
|
Myositis, Raynaud phenomenon, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specif... |
ORPHA:589 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Pruritus, Hyperkeratosis, Palmoplantar hyperkeratosis |
ORPHA:89838 |
Immunodeficiency, Common Variable, 10 |
|
Psoriasiform dermatitis, Anti-thyroid peroxidase antibody positivity, Recurrent pneumonia, Recurr... |
OMIM:615577 |
Ige Responsiveness, Atopic |
|
Eczema, Allergic rhinitis |
OMIM:147050 |
Panniculitis-Induced Localized Lipodystrophy |
|
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Erythema, Vasculitis in th... |
ORPHA:90159 |
C1Q Deficiency 2 |
|
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Discoid lupus rash, Antinucl... |
OMIM:620321 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin |
OMIM:618527 |
Lichen Planopilaris |
|
Pruritus, Hepatitis, Skin ulcer, Hyperkeratosis, Pterygium |
ORPHA:525 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Sudden cardiac death, Myocardial infarction, Gout, Hypertension, Premature coronary artery athero... |
OMIM:610947 |
Keratolytic Winter Erythema |
|
Pustule |
ORPHA:50943 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial nephritis, Colitis, Pso... |
ORPHA:37042 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis, Osteomyelitis, Neuropathic arthropathy, Osteolytic defects of the phalanges of th... |
OMIM:615632 |
Idiopathic Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Pruritus, Erythema, Scaling skin, Scleroderma, Morphea |
ORPHA:90158 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Thymoma |
|
Myositis, Glomerulonephritis, Autoimmunity, Anti-acetylcholine receptor antibody positivity, Ulce... |
ORPHA:99867 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Recurrent sinusitis |
OMIM:617765 |
Epidermolytic Hyperkeratosis 1 |
|
Congenital bullous ichthyosiform erythroderma, Scaling skin, Palmoplantar hyperkeratosis, Erythro... |
OMIM:113800 |
Cyclic Neutropenia |
|
Fever |
OMIM:162800 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycardia |
OMIM:126320 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hypertension, Coronary artery atherosclerosis, Arterial stenosis, Cerebral artery atherosclerosis |
ORPHA:1192 |
Quinquaud Folliculitis Decalvans |
|
Pustule, Recurrent skin infections |
ORPHA:346 |
Immunodeficiency 59 And Hypoglycemia |
|
Recurrent skin infections, Herpes simplex encephalitis, Recurrent aphthous stomatitis, Arteritis,... |
OMIM:233600 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Hyper... |
OMIM:616295 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Ichthyosis, Palmoplantar keratoderma, Hypergranulosis, Erythroderma |
OMIM:615022 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, Thyroiditis, Erythroderma, Scaling ... |
OMIM:606367 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Limitation of joint mobility, Sy... |
ORPHA:85435 |
Peripheral Dysostosis |
|
Hip osteoarthritis |
OMIM:170700 |
Immunodeficiency 66 |
|
Pustule, Recurrent skin infections |
OMIM:618847 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Elbow flexion contracture, Pyoderma gangrenosum, Sterile arthritis, Knee flexion contractur... |
OMIM:604416 |
Epidermolytic Palmoplantar Keratoderma |
|
Interphalangeal joint contracture of finger, Hypergranulosis, Epidermal hyperkeratosis, Diffuse p... |
ORPHA:2199 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Raynaud phenomenon, Antinuclear antibody po... |
OMIM:607944 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Macrophagic Myofasciitis |
|
Fever |
ORPHA:592 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Skin ulce... |
ORPHA:69126 |
Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... |
ORPHA:1416 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral... |
OMIM:608957 |
Intermediate Uveitis |
|
Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Tubulointerstitial nephritis, Optic neuritis |
ORPHA:279914 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Immunodeficiency 49 |
|
Wormian bones, Pulmonary artery stenosis, Psoriasiform dermatitis, Cutis laxa |
OMIM:617237 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Hydroa Vacciniforme |
|
Superficial dermal perivascular inflammatory infiltrate, Telangiectasia of the skin, Eczema, Kera... |
ORPHA:330058 |
Erythrokeratodermia Variabilis |
|
Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Dry skin |
ORPHA:317 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... |
OMIM:615023 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Hyperkeratosis, Abnormality of the wrist, Abnormality of the elbow |
ORPHA:89843 |
Erosive Pustular Dermatosis Of The Scalp |
|
Pustule |
ORPHA:222 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Patent ductus arteriosus, Comedonal acne, Follicular hyperkeratosis |
OMIM:615147 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Vascular dilatation |
ORPHA:2924 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Coronary artery calcification, Myocardial infarction, Carotid artery calcification, Congestive he... |
OMIM:208000 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Congestive heart failure, Heart murmur, Dilatation of the cerebral arter... |
ORPHA:615 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th... |
ORPHA:227990 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Listeriosis |
|
Unusual skin infection, Pericarditis, Osteomyelitis, Stiff neck, Pneumonia, Pustule, Congestive h... |
ORPHA:533 |
Lamellar Ichthyosis |
|
Pruritus, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Erythroderma, Chronic otitis media... |
ORPHA:313 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Septic arthritis |
ORPHA:36237 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Isch... |
ORPHA:679 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca... |
ORPHA:294023 |
Immunodeficiency 104 |
|
Pneumonia, Eczema, Chronic mucocutaneous candidiasis, Otitis media, Recurrent otitis media |
OMIM:608971 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Chronic Recurrent Multifocal Osteomyelitis 3 |
|
Palmoplantar pustulosis, Osteomyelitis |
OMIM:259680 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Osteoarthritis |
OMIM:271600 |
H Syndrome |
|
Psoriasiform dermatitis, Recurrent fractures, Abnormal cardiovascular system physiology, Bronchie... |
ORPHA:168569 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Rayna... |
ORPHA:289390 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th... |
ORPHA:227982 |
Hereditary Xanthinuria |
|
Arthropathy, Rheumatoid arthritis, Gout |
ORPHA:3467 |
Lig4 Syndrome |
|
Psoriasiform dermatitis, Chronic sinusitis, Telangiectasia |
OMIM:606593 |
Hypotrichosis 6 |
|
Pruritus, Erythema, Follicular hyperkeratosis |
OMIM:607903 |
Cutaneous Small Vessel Vasculitis |
|
Recurrent skin infections, Skin rash, Erythema, Vasculitis, Purpura |
ORPHA:889 |
Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma |
OMIM:608649 |
Dowling-Degos Disease |
|
Pruritus, Hyperkeratosis, Arthritis, Skin vesicle, Hyperkeratotic papule, Acne inversa |
ORPHA:79145 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Autoimmunity, Skin ulcer,... |
ORPHA:229717 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Keratitis, Facial erythema, Folliculitis, Palmoplantar keratoderma, Conjunctivitis, Follicular hy... |
OMIM:308800 |
Sjögren-Larsson Syndrome |
|
Joint stiffness, Erythema, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory abnormality of the eye |
ORPHA:816 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Interstitial pn... |
ORPHA:454831 |
Tuberculosis |
|
Fever |
ORPHA:3389 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Joint stiffness, Arthritis, Progressive joint destruction, Chondritis, Os... |
ORPHA:564003 |
Harlequin Ichthyosis |
|
Sudden cardiac death, Limitation of joint mobility, Hyperkeratosis, Congenital ichthyosiform eryt... |
ORPHA:457 |
Eng-Strom Syndrome |
|
Arthritis, Camptodactyly of finger |
ORPHA:1937 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis, Palmoplantar keratoderma |
ORPHA:2206 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Lacun... |
ORPHA:136 |
Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin, Erythema |
ORPHA:90160 |
Vascular Hyalinosis |
|
Vascular dilatation, Hematochezia, Subarachnoid hemorrhage |
OMIM:277175 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Telangiectasia of the skin, Abnormal cerebral vascular morphology, Seborrheic dermatitis, Hyperpa... |
ORPHA:276280 |
Acral Peeling Skin Syndrome |
|
Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin |
ORPHA:263534 |
Brucellosis |
|
Anterior uveitis, Pericarditis, Osteomyelitis, Transient ischemic attack, Pneumonia, Glomerulonep... |
ORPHA:1304 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Scaling skin |
OMIM:617115 |
Elastoderma |
|
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa |
ORPHA:228240 |
Pauci-Immune Glomerulonephritis |
|
Purpura, Glomerulonephritis, Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody... |
ORPHA:93126 |
Peripheral Dysostosis |
|
Osteoarthritis, Joint stiffness |
ORPHA:1795 |
Paget Disease Of Bone 6 |
|
Osteoarthritis, Coronary artery atherosclerosis |
OMIM:616833 |
Ramon Syndrome |
|
Hyperkeratosis, Juvenile rheumatoid arthritis, Telangiectasia |
OMIM:266270 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Skin rash |
OMIM:619175 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant... |
ORPHA:90283 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash |
OMIM:609939 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin |
OMIM:146590 |
Complement Component 4A Deficiency |
|
Vasculitis, Glomerulonephritis, Systemic lupus erythematosus |
OMIM:614380 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity |
OMIM:130020 |
Osteoarthritis With Mild Chondrodysplasia |
|
Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness |
OMIM:604864 |
Immunodeficiency 50 |
|
Eczema |
OMIM:300988 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Abnormality of the knee, Crusting erythematous dermatitis, Abnormality of the elbow, Erythema, Pa... |
ORPHA:158673 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Enterocolitis, Hematochezia, ... |
OMIM:243150 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis |
OMIM:221700 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Erythema, Telangiectasia of the skin, Skin ulcer |
ORPHA:542592 |
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Osteoarthritis |
ORPHA:435804 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aor... |
ORPHA:91387 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:613943 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Oligozoospermia, Increase... |
OMIM:615703 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Acantholysis, Pustule, Pruritus, Autoimmune antibody posit... |
ORPHA:555905 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma |
ORPHA:330064 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Osteomyelitis, Neuropathic arthropathy, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis, Path... |
ORPHA:36386 |
Erythema Elevatum Diutinum |
|
Skin rash, Vasculitis in the skin |
ORPHA:90000 |
Neutrophilic Dermatosis, Acute Febrile |
|
Dilated cardiomyopathy, Erythema, Pyoderma gangrenosum, Panniculitis, Cystic acne, Small vessel v... |
OMIM:608068 |
Reynolds Syndrome |
|
Skin rash, Telangiectasia of the skin, Pruritus, Skin ulcer, Arthritis, Keratoconjunctivitis sicc... |
ORPHA:779 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... |
OMIM:620148 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Atopic dermatitis, Pneumonia |
OMIM:618806 |
Microscopic Polyangiitis |
|
Episcleritis, Gastrointestinal hemorrhage, Increased inflammatory response, Sinusitis, Pericardit... |
ORPHA:727 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis |
OMIM:617772 |
Darier Disease |
|
Acrokeratosis, Pruritus, Thickened skin, Palmoplantar keratoderma, Skin vesicle, Subungual hyperk... |
ORPHA:218 |
Rothmund-Thomson Syndrome, Type 1 |
|
Recurrent otitis media, Hyperkeratosis, Osteoporosis |
OMIM:618625 |
Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Dry skin, Ichthyosis |
ORPHA:461 |
Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Camptodactyly of finger, Skin rash, Thin skin, Thickened skin |
ORPHA:1658 |
Ichthyosis With Confetti |
|
Pruritus, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital nonbullous ichthyos... |
OMIM:609165 |
Juvenile Temporal Arteritis |
|
Vasculitis, Conjunctivitis, Allergic rhinitis, Cerebral ischemia |
ORPHA:26137 |
Progressive Nodular Histiocytosis |
|
Fever |
ORPHA:158022 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... |
OMIM:615978 |
Prolidase Deficiency |
|
Pruritus, Crusting erythematous dermatitis, Erythema, Skin ulcer, Reduced bone mineral density, G... |
ORPHA:742 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Eczema, Pruritus, Palmoplantar keratoderma, Dry skin, Blepharitis |
OMIM:618535 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypertension, Progressive flexion contractures, Rheumatoid arthritis |
ORPHA:98808 |
Chronic Mucocutaneous Candidiasis |
|
Skin rash, Pruritus, Erythema, Cheilitis, Hepatitis, Skin ulcer, Hyperkeratosis |
ORPHA:1334 |
Spinocerebellar Ataxia Type 42 |
|
Psoriasiform dermatitis |
ORPHA:458803 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Glomerulonephritis, Autoimmunity, Synovitis, Hypertension, Arthritis, Anti-dsDNA antib... |
ORPHA:567544 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Recurrent otitis media, Recurrent skin infections, Atopic dermatitis, Cutaneous abscess |
OMIM:618944 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthokeratosis |
OMIM:607936 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Atopic dermatitis, Skin ulcer, Recurrent sinusiti... |
ORPHA:217390 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension, Coronary artery atherosclerosis, Pancreatitis |
ORPHA:79084 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Vasculitis, Arterial stenosis, Pulmonary artery aneurysm, Pulmonary arterial ... |
ORPHA:228116 |
Multicentric Reticulohistiocytosis |
|
Arthritis |
ORPHA:139436 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Psoriasiform dermatitis, Arteria lusoria, Arthritis, Chronic oral candidiasis, Recurr... |
ORPHA:221139 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin |
OMIM:612379 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Eczema, Ichthyosis |
ORPHA:3055 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Antinuclear antibody positivity, Thyroiditis, Uveitis, Palmoplantar ... |
OMIM:617388 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Joint stiffness, Congestive heart failure, Osteoarthritis, Hypertension, Hype... |
ORPHA:1345 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Cerebral hemorrhage, Abnormal cerebral vascular morp... |
ORPHA:53719 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Bronchiectasis, ... |
OMIM:618282 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, ... |
OMIM:616576 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Joint stiffness, Osteoporosis, Hyperkeratosis, Increased bone den... |
OMIM:136300 |
Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Arthritis,... |
OMIM:300310 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Psoriasiform dermatitis, Autoimmune thrombocytopenia, Recurrent pneumonia, Autoimmune antibody po... |
ORPHA:293978 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Gout, Vascular dilatation |
OMIM:617056 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Conjugated hyperbilirubinemia, Steatorrhea, Failure to thrive, Hypocholeste... |
OMIM:607765 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Acne, Skin rash, Abnormal cerebral vascular morphology, Sudden cardi... |
ORPHA:758 |
Hyperzincemia With Functional Zinc Depletion |
|
Vasculitis, Skin rash |
OMIM:601979 |
Pellagra-Like Syndrome |
|
Skin rash |
OMIM:260650 |
Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Rheumatoid factor positive, Antinuclear antib... |
ORPHA:449395 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Arthropathy, Redundant skin, Seborrheic dermatitis, Patent ductus arteriosus, Limitat... |
OMIM:259100 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
Hyperthermia, Cutaneous, With Headaches And Nausea |
|
Fever |
OMIM:145590 |
Singleton-Merten Syndrome 2 |
|
Osteopenia, Psoriasiform lesion, Osteolytic defects of the phalanges of the hand, Hyperkeratosis,... |
OMIM:616298 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Peritonitis, Pneumonia, Recurrent meningococcal disease |
OMIM:615561 |
Phace Association |
|
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... |
OMIM:606519 |
Catastrophic Antiphospholipid Syndrome |
|
Antiphospholipid antibody positivity, Angina pectoris, Transient ischemic attack, Myocardial infa... |
ORPHA:464343 |
Buerger Disease |
|
Vasculitis, Skin ulcer |
ORPHA:36258 |
Milroy Disease |
|
Abnormal venous morphology, Ankle swelling, Hyperkeratosis, Varicose veins, Erysipelas |
ORPHA:79452 |
Systemic Lupus Erythematosus |
|
Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv... |
OMIM:152700 |
De Sanctis-Cacchione Syndrome |
|
Keratitis, Parakeratosis, Conjunctivitis, Telangiectasia |
OMIM:278800 |
Noonan Syndrome 8 |
|
Eczema, Patent ductus arteriosus, Hyperkeratosis, Mitral regurgitation, Pulmonic stenosis, Webbed... |
OMIM:615355 |
Lipoid Proteinosis |
|
Pustule, Hyperkeratosis, Acne, Thickened skin |
ORPHA:530 |
Cutaneous Collagenous Vasculopathy |
|
Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Petechiae |
ORPHA:280779 |
Dermatofibrosarcoma Protuberans |
|
Thickened skin, Erythema, Skin ulcer |
ORPHA:31112 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling |
ORPHA:1525 |
Periodic Fever, Menstrual Cycle-Dependent |
|
Fever |
OMIM:614674 |
Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hyperextensibility at wrists, Rec... |
OMIM:601492 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Vascular dilatation |
OMIM:614859 |
Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Acute pancreatitis, Angina pectoris, Type IV atherosclerotic lesion,... |
ORPHA:412 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Perianal abscess, Pancolitis, Folliculitis, Enterocolitis |
OMIM:612567 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Joint contracture, Juvenile rheumatoid arthritis, Elbow contracture |
OMIM:615656 |
Pemphigus Erythematosus |
|
Autoimmunity, Acantholysis, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody... |
ORPHA:79480 |
Congenital Disorder Of Glycosylation, Type If |
|
Flexion contracture, Hyperkeratosis, Scaling skin, Erythroderma, Dry skin |
OMIM:609180 |
Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Dilated cardiomyopathy, Hyperkeratosis, Bradycardia, Ichthy... |
OMIM:610768 |
Porphyria Cutanea Tarda, Type I |
|
Eczema |
OMIM:176090 |
Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Skin ulcer, Varicose veins, Cobbl... |
ORPHA:90186 |
Acrogeria |
|
Telangiectasia of the skin, Skin ulcer, Excessive wrinkled skin, Joint hyperflexibility, Thin skin |
ORPHA:2500 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Skin rash, Angina pecto... |
ORPHA:93672 |
Primary Erythromelalgia |
|
Pruritus, Vasculitis |
ORPHA:90026 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis |
OMIM:618546 |
Schnitzler Syndrome |
|
Increased bone mineral density, Skin rash, Pruritus, Vasculitis, Arthritis |
ORPHA:37748 |
Reticular Dysgenesis |
|
Chronic otitis media, Skin rash, Skin ulcer |
ORPHA:33355 |
Limited Cutaneous Systemic Sclerosis |
|
Foot joint contracture, Telangiectasia of the skin, Autoimmunity, Skin ulcer, Pulmonary arterial ... |
ORPHA:220402 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Congenital hip dislocation, Flexion contracture, Erythema, Hyperkeratosis, Epiphys... |
OMIM:308050 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Thickened skin, Hepatitis, Ha... |
ORPHA:436252 |
Beukes Hip Dysplasia |
|
Osteoarthritis, Shallow acetabular fossae |
OMIM:142669 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Increased circulating farnesol concentration, Bilateral cryptorchid... |
OMIM:618156 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin |
OMIM:247100 |
Potocki-Lupski Syndrome |
|
Failure to thrive, Small for gestational age, Hypocholesterolemia |
OMIM:610883 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Delayed epiphyseal ossification, Osteoarthritis, Limited elbow extension, Limited knee extension,... |
OMIM:600969 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis |
OMIM:619248 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Osteopenia, Joint hypermobility, Arterial rupture, Follicular hyperkeratosis |
ORPHA:300179 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension, Prominent superficial veins, Coronary artery atherosclerosis, Acute pancreatitis |
OMIM:608600 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Patent ductus arteriosus, Aortic valve stenosis, Vascular dilatation |
OMIM:220220 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l... |
OMIM:300635 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Skin rash, Recurrent fractures, Craniosynostosis, Recurrent pneumonia, Erythema, Chro... |
OMIM:147060 |
Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterol... |
OMIM:266510 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Right ventricular f... |
ORPHA:99095 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo... |
OMIM:614457 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Abnormal acetabulum morphology, Joint stiffness, Delayed epiphyseal ossification, Osteoarthritis,... |
ORPHA:93308 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi... |
OMIM:186580 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Autoimmunity, Recurre... |
ORPHA:47 |
Congenital Ichthyosiform Erythroderma |
|
Keratitis, Pruritus, Erythroderma, Palmoplantar keratoderma, Ichthyosis |
ORPHA:79394 |
Zinc Deficiency, Transient Neonatal |
|
Eczema |
OMIM:608118 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Skin ulcer, Thin... |
ORPHA:743 |
Vertical Talus, Congenital |
|
Arthritis |
OMIM:192950 |
Keratoderma Hereditarium Mutilans |
|
Hyperkeratosis, Osteolysis, Honeycomb palmoplantar hyperkeratosis, Ichthyosis |
ORPHA:494 |
Hip Dysplasia, Beukes Type |
|
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... |
ORPHA:2114 |
Ramon Syndrome |
|
Hyperkeratosis, Telangiectasia of the skin, Osteolysis |
ORPHA:3019 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Arthritis |
OMIM:613217 |
Epidermodysplasia Verruciformis |
|
Pustule, Telangiectasia of the skin, Recurrent skin infections, Seborrheic dermatitis |
ORPHA:302 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Congestive heart failure, Patent ductus arteriosus, Hypoplastic a... |
ORPHA:1457 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vascular dilatation |
OMIM:617219 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia, Dissemina... |
OMIM:617638 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Foot osteomyelitis, Acral ulceration, Skin ulcer |
ORPHA:139578 |
Livedoid Vasculopathy |
|
Enlargement of the ankles, Superficial dermal perivascular inflammatory infiltrate, Abnormal capi... |
ORPHA:542643 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa |
OMIM:617337 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:600546 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Panhypogammaglobulinemia |
OMIM:601457 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Arthritis, Limitation of joint mobility |
ORPHA:2582 |
Spondylosis, Cervical |
|
Osteoarthritis |
OMIM:184300 |
Leopard Syndrome 3 |
|
Epidermal hyperkeratosis, Dry skin, Hyperkeratosis, Webbed neck, Cubitus valgus, Tetralogy of Fallot |
OMIM:613707 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Pulm... |
ORPHA:3342 |
Melorheostosis |
|
Increased bone mineral density, Peripheral arteriovenous fistula, Joint stiffness, Arthritis, Ect... |
ORPHA:2485 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Osteomyelitis, Skin rash, Eczema, Recurrent fractures, Craniosynostosis, Pruritus, Sk... |
ORPHA:2314 |
Cole Disease |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:615522 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Skin rash, Pustule, Osteolysis, Hyperkeratosis, Fused cervical vertebr... |
OMIM:612852 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Angina pectoris, Premature coronary artery atherosclerosis |
ORPHA:140905 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat... |
ORPHA:83617 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis |
ORPHA:2841 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma, Blepharitis |
OMIM:602400 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pustule, Pruritus, Cheilitis, Eosinop... |
ORPHA:293173 |
Aicardi-Goutieres Syndrome 5 |
|
Arthropathy, Chilblains, Flexion contracture, Scaling skin, Dry skin |
OMIM:612952 |
Irida Syndrome |
|
Hyperkeratosis, Pallor, Ichthyosis |
ORPHA:209981 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Erythroderma |
ORPHA:280785 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis |
ORPHA:93283 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers, Retinal arteriolar occlusion |
ORPHA:330 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... |
OMIM:606545 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p... |
ORPHA:277 |
Poikiloderma With Neutropenia |
|
Joint laxity, Plantar hyperkeratosis, Skin rash, Joint stiffness, Recurrent pneumonia, Telangiect... |
OMIM:604173 |
Moynahan Syndrome |
|
Hyperkeratosis |
ORPHA:2574 |
Naxos Disease |
|
Subungual hyperkeratosis, Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac... |
OMIM:601214 |
Wiskott-Aldrich Syndrome 2 |
|
Eczema |
OMIM:614493 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorrhage, Intracr... |
ORPHA:97339 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Vasculitis, Skin ulcer, Arthritis, Keratoconjunctiv... |
ORPHA:91138 |
Prolidase Deficiency |
|
Eczema, Recurrent pneumonia, Diffuse telangiectasia, Crusting erythematous dermatitis, Skin ulcer... |
OMIM:170100 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Keratitis, Facial erythema, Folliculitis, Palmoplantar keratoderma, Conjunctivitis, Blepharitis |
OMIM:612843 |
Cardiofaciocutaneous Syndrome 3 |
|
Reduced bone mineral density, Hyperkeratosis, Pulmonic stenosis, Webbed neck, Hypertrophic cardio... |
OMIM:615279 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod... |
OMIM:148700 |
Calciphylaxis |
|
Ectopic ossification, Arterial calcification, Abnormality of skin physiology, Skin ulcer |
ORPHA:280062 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Vascular dilatation |
OMIM:277320 |
Juvenile Arthritis |
|
Skin rash |
OMIM:618795 |
Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Generalized keratosis follicularis, Eczema, Dry skin |
ORPHA:2890 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Erythroderma Desquamativum |
|
Seborrheic dermatitis |
ORPHA:314 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Patent ductus arteriosus |
OMIM:614432 |
Acquired Purpura Fulminans |
|
Shock, Skin rash, Pyoderma gangrenosum, Intracranial hemorrhage, Macular purpura, Internal hemorr... |
ORPHA:49566 |
Dermatitis Herpetiformis |
|
Autoimmunity, Recurrent fractures, Eczema, Pruritus, Erythema, Skin vesicle |
ORPHA:1656 |
Lymphatic Malformation 4 |
|
Hyperkeratosis, Prominent superficial veins |
OMIM:615907 |
Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Camptodactyly of finger, Vasculitis, Uveitis, Arthritis, Conjunctivitis,... |
ORPHA:575 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform erythroderma |
OMIM:613576 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Enthesitis, Arthriti... |
ORPHA:29207 |
Hemophilia A |
|
Osteoarthritis, Joint hemorrhage, Muscle hemorrhage |
OMIM:306700 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Fever, Malignant hyperthermia |
OMIM:601887 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormality of temperature regulation, Heat intolerance |
ORPHA:2926 |
Spinocerebellar Ataxia 34 |
|
Epidermal hyperkeratosis, Erythroderma |
OMIM:133190 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid art... |
ORPHA:391665 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Osteoarthritis |
ORPHA:66630 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Transient ischemic attack, Carotid artery stenosis, Lacunar stroke, Arteriosclerosis of small cer... |
OMIM:600142 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Coronary artery atherosclerosis, Renal artery stenosis, Cerebral artery atherosclerosis |
OMIM:209010 |
Candidiasis, Familial, 8 |
|
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis |
OMIM:615527 |
Chylomicron Retention Disease |
|
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Grubben-De Cock-Borghgraef Syndrome |
|
Dry skin, Eczema |
ORPHA:2101 |
Polyarteritis Nodosa |
|
Pericarditis, Raynaud phenomenon, Erythema, Skin ulcer, Cardiomyopathy, Hypertension |
ORPHA:767 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Dilated cardiomyopathy, Ol... |
ORPHA:3243 |
Proteus Syndrome |
|
Hyperkeratosis, Venous malformation |
OMIM:176920 |
Mycetoma |
|
Recurrent bacterial skin infections, Prominent superficial veins, Osteomyelitis, Abnormality of t... |
ORPHA:2583 |
Wells Syndrome |
|
Pruritus, Skin vesicle, Vasculitis |
ORPHA:901 |
Systemic Sclerosis |
|
Flexion contracture, Intestinal bleeding, Acral ulceration, Raynaud phenomenon, Thickened skin, D... |
ORPHA:90291 |
Limb-Mammary Syndrome |
|
Dry skin, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Blepharitis |
ORPHA:69085 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Accelerated atherosclerosis, Hypertension, Coronary artery atherosclerosis, Myocardial infarction |
OMIM:618620 |
Familial Keratoacanthoma |
|
Hyperkeratosis, Skin ulcer |
ORPHA:493 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Erythema nodosum, Arthritis, Skin rash, Recurrent aphthous stomatitis |
OMIM:611762 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Joint laxity, Joint contracture, Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
Alg12-Cdg |
|
Hyponatremia, Recurrent respiratory infections, Recurrent ear infections, Abnormal circulating Ig... |
ORPHA:79324 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ... |
OMIM:228000 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... |
OMIM:617168 |
Schopf-Schulz-Passarge Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma, Dry skin |
OMIM:224750 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Systemic lupus erythematosus, ... |
ORPHA:90036 |
Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Chronic sinusitis, Bronchiectasis, Skin ulcer |
OMIM:604571 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Grange Syndrome |
|
Coronary artery stenosis, Renovascular hypertension, Renal artery stenosis, Carotid artery stenosis |
OMIM:602531 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... |
OMIM:610655 |
Idiopathic Trachyonychia |
|
Ichthyosis, Circumungual hyperkeratosis, Atopic dermatitis, Autoimmune thrombocytopenia |
ORPHA:79153 |
Blau Syndrome |
|
Large vessel vasculitis, Posterior uveitis, Retrobulbar optic neuritis, Skin ulcer, Ichthyosis, K... |
ORPHA:90340 |
Van Den Bosch Syndrome |
|
Recurrent skin infections, Acrokeratosis |
ORPHA:3417 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis, Hypertrophic cardiomyopathy, Telangiectasia of the skin, Telangiectasia |
ORPHA:79279 |
Phenylketonuria |
|
Scleroderma, Dry skin, Eczema |
OMIM:261600 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri... |
ORPHA:85408 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... |
ORPHA:280679 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Gastrointestinal hemorrhage, Skin rash, Pustule, Orchitis, Vasculitis, Erythema, Sk... |
ORPHA:761 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Arthropathy, Eczema, Craniosynostosis, Keratitis, Hip dislocation, Bronchiectasis, Recurrent otit... |
OMIM:618523 |
Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... |
ORPHA:90307 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Descending aortic dissection, Osteoarthritis, Bronchiectasis, Ascending aortic dissection, Joint ... |
OMIM:620080 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia, Skin rash, Pallor |
ORPHA:29822 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Skin ulcer, Abnormality of the wrist |
ORPHA:1657 |
Cortisone Reductase Deficiency 1 |
|
Acne |
OMIM:604931 |
Progressive Osseous Heteroplasia |
|
Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue |
ORPHA:2762 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis |
OMIM:104100 |
Anti-Glomerular Basement Membrane Disease |
|
Arthritis, Vasculitis, Autoimmunity, Purpura |
ORPHA:375 |
Hutchinson-Gilford Progeria Syndrome |
|
Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre... |
OMIM:176670 |
Acrokeratoelastoidosis Of Costa |
|
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis |
ORPHA:38 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Autoimmunity, Congestive heart failure, Flexion contracture, Osteolys... |
ORPHA:220393 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eczema, Eosinophilic infiltration of the esophagus, Subarachnoid hemorrhage,... |
OMIM:243700 |
Hereditary Central Diabetes Insipidus |
|
Growth delay, Fever |
ORPHA:30925 |
Familial Cold Urticaria |
|
Pruritus, Arthritis, Erythema, Conjunctivitis |
ORPHA:47045 |
Juvenile Hyaline Fibromatosis |
|
Progressive flexion contractures, Osteolysis, Skin ulcer, Joint stiffness |
ORPHA:2028 |
Werner Syndrome |
|
Increased bone mineral density, Telangiectasia of the skin, Abnormal cerebral vascular morphology... |
ORPHA:902 |
Superficial Epidermolytic Ichthyosis |
|
Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis |
ORPHA:455 |
Centrifugal Lipodystrophy |
|
Lymphadenitis, Inflammatory abnormality of the skin, Erythema, Scaling skin |
ORPHA:90156 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Renal artery aneurysm, Skin rash, Eczema, Portal hypertension, Raynaud phenomenon, Erythema nodos... |
OMIM:615688 |
Stuve-Wiedemann Syndrome 2 |
|
Congestive heart failure, Eczema, Camptodactyly, Pulmonary arterial hypertension |
OMIM:619751 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Failure to thrive, Premature ovarian insufficiency, Hypergonadotropic hypogonadism,... |
OMIM:212065 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Eczema, Hyperkeratosis, Keratoconjunctivitis sicca, Thin skin, Dry skin, Inflammatory ... |
ORPHA:238468 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Anterior uveitis, Skin rash, Antinuclear antibody positivity, Colitis, Polyarticular arthritis, L... |
OMIM:616744 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Hypertension, Recurrent pneumonia, Coarctation of aorta |
OMIM:616069 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Pyoderma gangrenosum, Bronchiectasis, Recurrent aphthous stomatitis, Chronic... |
OMIM:150550 |
Hemophilia B |
|
Gastrointestinal hemorrhage, Osteoarthritis, Joint hemorrhage |
OMIM:306900 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... |
ORPHA:66529 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Angular cheilitis, Follicular hyperkeratosis |
OMIM:613102 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Antinuclear antibody positivity, Arthritis, Crescentic glomerulonephritis, Pulmonary hemorrhage |
OMIM:616414 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Erythema nodosum |
OMIM:615214 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Reduced circulating transferrin concentration, Decreased circul... |
ORPHA:90363 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca |
OMIM:617321 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Vascular dilatation |
OMIM:602200 |
Pseudoachondroplasia |
|
Joint laxity, Limited hip extension, Joint stiffness, Distal joint laxity, Delayed epiphyseal oss... |
ORPHA:750 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Larg... |
ORPHA:728 |
Pachyonychia Congenita 2 |
|
Folliculitis, Subungual hyperkeratosis, Angular cheilitis, Palmoplantar hyperkeratosis |
OMIM:167210 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Ankylosis, Thickened skin, Erythema, Osteolysis, Skin ulcer, Palmoplantar keratoderma |
ORPHA:659 |
Protoporphyria, Erythropoietic, 1 |
|
Pruritus, Erythema, Eczema |
OMIM:177000 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar ke... |
OMIM:242100 |
Dysplasia Epiphysealis Hemimelica |
|
Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoarthritis, Genu valgum, Genu varum |
ORPHA:1822 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Stroke, Vascu... |
ORPHA:2637 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Tachycardia, Inflammatory abnormality of... |
ORPHA:39812 |
Hypohidrosis With Abnormal Palmar Dermal Ridges |
|
Fever |
OMIM:241120 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Autoimmunity, Bronchiectasis, Decreased circulating antibody level, Increased circulat... |
ORPHA:397596 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Eczema, Camptodactyly of finger, Pustule, Erythema, Palmoplantar hype... |
ORPHA:2907 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Hyperkeratosis, Keratoconjunctivitis sicca, Skin ulcer |
ORPHA:1806 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Cutis laxa, Generalized ichthyosis, Scaling skin, Dry skin, Generalized hyperkeratosis |
ORPHA:2269 |
Adiposis Dolorosa |
|
Telangiectasia of the skin, Recurrent skin infections, Autoimmunity, Arthritis, Dry skin |
ORPHA:36397 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Joint dislocation, Myositis, Skin rash, Telangiectasia of the skin, Autoimm... |
ORPHA:81 |
Hypercholesterolemia, Familial, 1 |
|
Coronary artery atherosclerosis |
OMIM:143890 |
Hemochromatosis, Type 2A |
|
Congestive heart failure, Dilated cardiomyopathy, Arthritis, Cardiomyopathy, Arrhythmia |
OMIM:602390 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... |
ORPHA:96180 |
Pgm3-Cdg |
|
Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rhinitis, Recurrent ski... |
ORPHA:443811 |
Autosomal Erythropoietic Protoporphyria |
|
Pruritus, Erythema, Eczema |
ORPHA:79278 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Flexion contracture, Joint swelling |
OMIM:609628 |
Neutropenia, Severe Congenital, X-Linked |
|
Eczema |
OMIM:300299 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Arthritis, Aortic root aneurysm, Ascending tubular aorta aneurysm, Ascendin... |
OMIM:619825 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Joint laxity, Dry skin, Multiple joint contractures, Follicular hyperkeratosis |
ORPHA:486815 |
Proliferating Trichilemmal Cyst |
|
Skin ulcer |
ORPHA:492 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Vascular dilatation |
OMIM:613320 |
Complement Factor I Deficiency |
|
Recurrent skin infections, Glomerulonephritis, Vasculitis, Pyelonephritis, Recurrent sinusitis, R... |
OMIM:610984 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Ankle swelling, Pruritus, Wrist swelling, Arthritis, Conjunct... |
ORPHA:448237 |
Beta-Thalassemia |
|
Hepatitis, Skin ulcer, Reduced bone mineral density, Pallor, Hypertrophic cardiomyopathy |
ORPHA:848 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Di... |
OMIM:609040 |
Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Osteomyelitis, Skin ulcer |
ORPHA:2218 |
Pseudoxanthoma Elasticum |
|
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Allergic rhinitis, Seborrheic... |
OMIM:618131 |
Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ... |
OMIM:615726 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Myositis, Antiphospholipid antibody positivity, Skin rash, Rheumatoid factor positive, Joint stif... |
OMIM:615934 |
Adult-Onset Still Disease |
|
Pericarditis, Skin rash, Pruritus, Myocarditis, Erythema, Hepatitis, Arthritis, Joint swelling |
ORPHA:829 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Perianal erythema, Pustule, Perioral erythema, Erythroderma, Blepharitis |
OMIM:614328 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... |
ORPHA:33110 |
Loeys-Dietz Syndrome 6 |
|
Carotid artery dissection, Thoracic aortic aneurysm, Knee osteoarthritis, Varicose veins, Dilatat... |
OMIM:619656 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Osteopenia, Recurrent skin infections, Pneumonia, Pyoderma gangrenosum, Rhinitis, Periodontitis, ... |
ORPHA:486 |
Apolipoprotein A-I Deficiency |
|
Angina pectoris, Atherosclerosis, Premature coronary artery atherosclerosis |
ORPHA:425 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Recurrent skin infections, Venous insufficiency, Abnormal lymphatic vessel morphology, Varicose v... |
ORPHA:568051 |
Aplasia Cutis Congenita |
|
Abnormality of bone mineral density, Skin ulcer |
ORPHA:1114 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Oligoarthritis, Polyar... |
OMIM:142680 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Osteomyelitis, Acne, Seborrheic dermatitis, Thickened skin, Limitati... |
ORPHA:2796 |
Incontinentia Pigmenti |
|
Skin rash, Telangiectasia of the skin, Camptodactyly of finger, Keratitis, Congestive heart failu... |
ORPHA:464 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Arthritis, Conjunctivitis, Skin rash, Uveitis |
OMIM:120100 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hydrocele testis, Hypocholesterolemia |
OMIM:618810 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative... |
ORPHA:48435 |
American Trypanosomiasis |
|
Skin rash, Myocarditis, Congestive heart failure, Autoimmune antibody positivity, Cardiomyopathy,... |
ORPHA:3386 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Osteomyelitis, Acral ulceration, Osteolytic defects of the phalanges of the hand |
OMIM:613115 |
Trichothiodystrophy 1, Photosensitive |
|
Flexion contracture, Telangiectasia, Hyperkeratosis, Keratoconjunctivitis sicca, Congenital nonbu... |
OMIM:601675 |
Netherton Syndrome |
|
Skin rash, Eczema, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Ac... |
ORPHA:634 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Liver kidney microsome type 1 antibody positivity, ... |
ORPHA:2137 |
Immunodeficiency 57 With Autoinflammation |
|
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Inflammation of the large intestine |
OMIM:618108 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Conjunctivitis, Otitis m... |
ORPHA:906 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Psoriasiform dermatitis |
ORPHA:2237 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Keratitis, Elbow flexion contracture, Knee flexion contractu... |
OMIM:148210 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Sinusitis, Recurrent intrapulmonary hemorrhage, Skin r... |
ORPHA:183 |
Familial Thrombocytosis |
|
Transient ischemic attack, Peripheral arterial stenosis, Syncope, Cerebral ischemia, Pulmonary ar... |
ORPHA:71493 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Gastritis, Autoimmunity, Joint st... |
ORPHA:809 |
Hereditary Spherocytosis |
|
Maculopapular exanthema, Skin ulcer, Gout, Pallor, Restrictive cardiomyopathy |
ORPHA:822 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Joint dislocation, Recurrent skin infections, Joint stiffness, Reduced bone mineral density, Coar... |
OMIM:620210 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Sudden cardiac death, Joint stiffness, Vasculitis, Skin ulcer, Arthritis... |
ORPHA:397 |
Amyloidosis, Familial Visceral |
|
Hypertension, Skin rash |
OMIM:105200 |
Papillon-Lefèvre Syndrome |
|
Recurrent cutaneous abscess formation, Severe periodontitis, Recurrent skin infections, Pustule, ... |
ORPHA:678 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Skin ulcer, Intracranial hemorrhage, Arteriovenous malf... |
ORPHA:624 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Osteoarthritis |
OMIM:618618 |
Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Raynaud phenomenon, Epididymitis, Erythema, Arthritis, Iritis |
OMIM:109650 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Joint dislocation, Skin rash, Autoimmunity, Pruritus, Uveitis, Arthritis, Conjuncti... |
ORPHA:36412 |
Pseudopelade Of Brocq |
|
Recurrent skin infections, Cheilitis |
ORPHA:129 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Hyperkeratosis, Joint contracture of the 5th finger, Camptodactyly of finger |
ORPHA:1883 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia, Vascular dilatation |
ORPHA:221098 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Autoimmune hemolytic anemia, Autoimmunity, Anticardiolipin IgG antibody positivity, Autoimmune th... |
OMIM:615559 |
Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Skin rash, Arteriovenous malformation |
ORPHA:1059 |
Lesch-Nyhan Syndrome |
|
Gout |
ORPHA:510 |
Hidrotic Ectodermal Dysplasia |
|
Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
ORPHA:189 |
Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Increased circulati... |
ORPHA:86816 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Congestive heart failure, Recurrent pneumonia, Arterial rupture, Aortic dissection, Arterial diss... |
ORPHA:1900 |
Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis, Genu recurvatum, Reduced bone mineral density |
ORPHA:2611 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephritis, Gout |
OMIM:162000 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Autoimmunity, Myocardial infarction, Pruritus, Myocardi... |
ORPHA:221 |
Senior-Loken Syndrome 8 |
|
Vascular dilatation |
OMIM:616307 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Peritonitis, Vasculitis, Limitation of joint mobility, Erythema, Art... |
ORPHA:343 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
Fusariosis |
|
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Per... |
ORPHA:228119 |
Albers-Schönberg Osteopetrosis |
|
Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized oste... |
ORPHA:53 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Fasciitis, Sinusitis, Myositis, Pneumonia, Tachycardia, Osteomyelitis, Skin rash, Glomerul... |
ORPHA:36234 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Sinusitis, Recurrent ... |
ORPHA:900 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Arthropathy, Congestive heart failure, Arthritis, Arrhythmia |
ORPHA:85446 |
Tularemia |
|
Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Otitis media, Inflammatory a... |
ORPHA:3392 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Increased bone mineral density, Pustul... |
ORPHA:77297 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury... |
OMIM:608654 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
ORPHA:14 |
Gaisböck Syndrome |
|
Angina pectoris, Myocardial infarction, Peripheral arterial stenosis, Hypovolemia, Gout, Elevated... |
ORPHA:90041 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Osteomyelitis, Venous insufficiency, Arterial stenosis, Intracranial... |
ORPHA:565 |
Acrodermatitis Enteropathica |
|
Pustule, Erythema, Cheilitis, Skin ulcer, Conjunctivitis, Dry skin, Blepharitis |
ORPHA:37 |
Chronic Granulomatous Disease |
|
Sinusitis, Eczema, Skin ulcer, Otitis media, Inflammatory abnormality of the eye |
ORPHA:379 |
Vernal Keratoconjunctivitis |
|
Pruritus, Punctate keratitis, Corneal neovascularization |
ORPHA:70476 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chronic mucocutaneous candidiasis... |
OMIM:614868 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:281090 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Accelerated atherosclerosis, Aortic atherosclerotic lesion, Coronary artery atherosclerosis, Hepa... |
ORPHA:209902 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Calcification of the aorta, Coarctation of aorta, Mitral regurgitation, Asc... |
OMIM:614823 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Epistaxis, Joint stiffness, Raynaud phenomenon, Erythema nodo... |
ORPHA:324625 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, Osteoarth... |
OMIM:208230 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Chronic mucocutaneous candidiasis, Abnormal left ventricular function, Con... |
ORPHA:36913 |
Bone Marrow Failure Syndrome 4 |
|
Dry skin, Eczema |
OMIM:618116 |
Pparg-Related Familial Partial Lipodystrophy |
|
Congestive heart failure, Prominent veins on trunk, Hypertension, Hypertrophic cardiomyopathy, Co... |
ORPHA:79083 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Hyperkeratosis, Dry skin |
ORPHA:1028 |
Indolent Systemic Mastocytosis |
|
Skin rash, Maculopapular exanthema, Osteoporosis, Pruritus |
ORPHA:98848 |
Immune-Mediated Necrotizing Myopathy |
|
Myositis, Skin rash, Raynaud phenomenon, Congestive heart failure, Myocarditis, Autoimmune antibo... |
ORPHA:206569 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Cardiac arrest, Pustule, Myocarditis, Erythema, Hepatitis, Thyroiditis, Tubulointersti... |
ORPHA:139402 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Eczema, Thyroiditis |
OMIM:618985 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Osteomyelitis, Skin ulcer |
OMIM:613640 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4 |
|
Fever |
OMIM:614212 |
Tangier Disease |
|
Coronary artery atherosclerosis, Myocardial infarction, Atherosclerosis |
OMIM:205400 |
Pachyonychia Congenita |
|
Angular cheilitis, Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar kerato... |
ORPHA:2309 |
Severe Combined Immunodeficiency, X-Linked |
|
Recurrent pneumonia, Skin rash, Pneumonia, Chronic oral candidiasis |
OMIM:300400 |
Costello Syndrome |
|
Redundant skin, Lack of skin elasticity, Hyperkeratosis, Joint hyperflexibility, Pulmonic stenosi... |
ORPHA:3071 |
Ventriculomegaly With Cystic Kidney Disease |
|
Vascular dilatation |
OMIM:219730 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Aortic root aneurysm, Osteoarthritis, Prominent superficial veins, Carotid artery stenosis |
OMIM:618000 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Telangiectasia of the skin, Osteomalacia, Recurrent fractures, Camptodactyly of finge... |
ORPHA:2176 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cerebral hemorrhage, Pruritus, Hypotension, Pe... |
ORPHA:99828 |
Ollier Disease |
|
Osteolysis, Skin ulcer, Joint stiffness |
ORPHA:296 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis |
ORPHA:1573 |
Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Autoimmunity, Abnormal joint morphology, Limitation of joi... |
ORPHA:47612 |
Hemochromatosis, Type 3 |
|
Arthritis, Purpura, Cardiomyopathy |
OMIM:604250 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Eczema, Systemic lupus erythematosus |
OMIM:616871 |
Coach Syndrome 1 |
|
Portal hypertension, Hypertension, Vascular dilatation |
OMIM:216360 |
Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
Boutonneuse Fever |
|
Skin rash, Vasculitis, Maculopapular exanthema, Petechiae |
ORPHA:83313 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Coronary artery atherosclerosis, Pancreati... |
ORPHA:2348 |
Cinca Syndrome |
|
Patellar overgrowth, Arthritis, Skin rash, Uveitis |
OMIM:607115 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Pruritus, Recurrent pneumonia, Cheilitis, Palmoplantar ke... |
ORPHA:158668 |
Localized Scleroderma |
|
Fasciitis, Autoimmunity, Raynaud phenomenon, Thickened skin, Vasculitis, Flexion contracture, Scl... |
ORPHA:90289 |
Flynn-Aird Syndrome |
|
Joint stiffness, Skin ulcer, Atherosclerosis |
ORPHA:2047 |
Leishmaniasis |
|
Rhinitis, Pallor, Skin ulcer |
ORPHA:507 |
Lcat Deficiency |
|
Atherosclerosis, Premature coronary artery atherosclerosis |
ORPHA:650 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Congestive heart fai... |
ORPHA:90349 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Membranoproliferative glomerulonephritis, Epidermal hyperkeratosis, Pulmonary lymphangiectasia, T... |
OMIM:137940 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Recurrent pneumonia, Bradycardia, Vascul... |
OMIM:613327 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Antiphospholipid antibody positivity, Skin rash, Raynaud phenomenon, Discoid lupus rash... |
ORPHA:93552 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Melena, ... |
OMIM:158310 |
Dubowitz Syndrome |
|
Eczema, Cryptorchidism, Recurrent infections, Otitis media, Hypocholesterolemia, Decreased circul... |
OMIM:223370 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Acne |
ORPHA:3000 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Cytoplasmic antineutrophil antib... |
OMIM:608710 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Eczema, Thin skin |
ORPHA:1810 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Aortic regurgitation, Anterior uveitis, Dilatation of the ventricular cavity, Knee osteoarthritis... |
ORPHA:85438 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Recurrent pneumonia, Atopic dermatitis, Bronchiectasis, Chronic mucocu... |
OMIM:619752 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Varicose veins, Pulmonic stenosis, Vascular dilatation, Aortic dissection |
OMIM:618343 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Thickened skin, Acne, Seborrheic dermatitis |
OMIM:614441 |
Melioidosis |
|
Shock, Foot osteomyelitis, Unusual skin infection, Pneumonia, Osteoarthritis, Hepatitis, Acute in... |
ORPHA:31202 |
Bazex-Dupre-Christol Syndrome |
|
Joint hypermobility, Atopic dermatitis, Eczema, Acne inversa |
OMIM:301845 |
Immunodeficiency 81 |
|
Recurrent cutaneous abscess formation, Autoimmune hemolytic anemia, Skin rash, Petechiae |
OMIM:619374 |
Cutis Marmorata Telangiectatica Congenita |
|
Arteriovenous malformation, Patent ductus arteriosus, Telangiectasia of the skin, Arterial stenosis |
ORPHA:1556 |
Rheumatic Fever |
|
Pericarditis, Sinusitis, Epistaxis, Myocarditis, Erythema, Endocarditis, Arthritis, Pallor, Arrhy... |
ORPHA:3099 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Autoimmune hemolytic anemia, Psoriasiform lesion, Pneumonia, Autoimmune throm... |
OMIM:614700 |
Pfapa Syndrome |
|
Arthritis, Infectious encephalitis |
ORPHA:42642 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Peritonitis, Polyarticular arthritis, Erysipelas |
OMIM:134610 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Patent ductus arteriosus, Hyperkeratosis, Inflammation of the large intestine, Dry skin |
OMIM:614576 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Orchitis, Urinary bladder inflammation, Pruritus... |
ORPHA:556 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Seborrheic dermatitis |
OMIM:619693 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Per... |
ORPHA:32960 |
Typhoid |
|
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Arrhythmia, Infectious encepha... |
ORPHA:99745 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Angina pectoris, Low-output congestive heart failure, Cardi... |
ORPHA:565612 |
Meningococcal Meningitis |
|
Shock, Stiff neck, Skin rash, Stroke, Hypotension, Infectious encephalitis, Petechiae, Purpura |
ORPHA:33475 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Stroke-li... |
OMIM:300845 |
Immunodeficiency 68 |
|
Lymphadenitis, Recurrent skin infections, Septic arthritis |
OMIM:612260 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Septic arthritis, Recurrent pneumonia, Autoimmunity, Eczema |
OMIM:617780 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Neutrophilic infiltration of the skin, Skin rash, Antinuclear antibody positivity, Anti-thyroid p... |
OMIM:618048 |
Bethlem Myopathy |
|
Multiple joint contractures, Interphalangeal joint contracture of finger, Ankle flexion contractu... |
ORPHA:610 |
Morgagni-Stewart-Morel Syndrome |
|
Hypertension, Osteoarthritis, Acne, Osteoporosis |
ORPHA:77296 |
Fixed Drug Eruption |
|
Stomatitis, Erythema, Crusting erythematous dermatitis |
ORPHA:293812 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
OMIM:616029 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Hyperkeratosis, Colitis, Bronchiectasis, Recurrent pneumonia |
OMIM:301220 |
Noonan Syndrome 10 |
|
Patent ductus arteriosus, Coarctation of aorta, Hypertrophic cardiomyopathy, Mitral regurgitation... |
OMIM:616564 |
Uremic Pruritus |
|
Pruritus, Inflammatory abnormality of the skin, Dry skin, Recurrent skin infections |
ORPHA:94059 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... |
ORPHA:371428 |
Sitosterolemia 1 |
|
Arthritis, Coronary artery atherosclerosis, Carotid artery stenosis |
OMIM:210250 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Osteoarthritis of the small joints of the hand, Atrial fibrillation, Arteri... |
ORPHA:284984 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... |
ORPHA:91139 |
Kaufman Oculocerebrofacial Syndrome |
|
Failure to thrive, Hypocholesterolemia, Recurrent infections |
OMIM:244450 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Arthritis |
ORPHA:320365 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Medial calcification of large arteries, Infectious encephalitis, Autoimmune thrombocy... |
ORPHA:391487 |
Gastrocutaneous Syndrome |
|
Coronary artery atherosclerosis |
ORPHA:2069 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Flexion contracture, Arthritis, Panniculitis, Conjunctivitis, Aca... |
OMIM:617591 |
Spinocerebellar Ataxia Type 3 |
|
Abnormality of temperature regulation |
ORPHA:98757 |
Plague |
|
Chapped lip, Tachycardia, Skin rash, Erythema nodosum, Lymphadenitis, Hematemesis, Abnormality of... |
ORPHA:707 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Sudden cardiac death, Acantholysis, Erythema, Skin ulcer, Conjunctiv... |
ORPHA:537 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hypertension, Gout |
OMIM:618061 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Coronary artery calcification, Limited shoulder movement, Aortic a... |
OMIM:203500 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Hepatitis, Arthritis, Erythroderma, Anti... |
OMIM:304790 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis, Recurrent skin infections, Epistaxis, Petechiae |
OMIM:612840 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Joint laxity, Distal joint laxity, Flexion contracture, Hip dislocation, Hyperextensibility at wr... |
OMIM:254090 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Camptodactyly of finger, Flexion contracture, Erythema, Cheilitis, Hyp... |
ORPHA:2908 |
Aplasia Cutis-Myopia Syndrome |
|
Skin ulcer |
ORPHA:1117 |
Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Myocardial infarction, Orchitis, Osteoarthritis, Vasculitis, Peritonitis... |
ORPHA:342 |
Scedosporiosis |
|
Unusual skin infection, Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, ... |
ORPHA:449280 |
Lyme Disease |
|
Atrioventricular block, Uveitis, Arthritis, Joint swelling, Arrhythmia, Infectious encephalitis |
ORPHA:91546 |
Moderate Hemophilia A |
|
Arthropathy, Hip contracture, Epidural hemorrhage, Gastrointestinal hemorrhage, Intraventricular ... |
ORPHA:169805 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Foot osteomyelitis, Osteomyelitis, Acral ulceration |
OMIM:162400 |
Monilethrix |
|
Follicular hyperkeratosis |
ORPHA:573 |
Immunodeficiency 23 |
|
Membranoproliferative glomerulonephritis, Rheumatoid factor positive, Allergic rhinitis, Eczema, ... |
OMIM:615816 |
Generalized Pustular Psoriasis |
|
Pustule, Congestive heart failure, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythr... |
ORPHA:247353 |
Eosinophilic Fasciitis |
|
Arthritis, Fasciitis, Myositis |
ORPHA:3165 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Antinuclear antibody positivity, Vasculitis, Recurrent pneumonia, Hematochezia, Subcon... |
OMIM:617718 |
Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Myocardial infarction, Hypertrophic cardiomyopathy, Pulmonic stenosis, Arrhy... |
ORPHA:500 |
Hatipoglu Immunodeficiency Syndrome |
|
Eczema, Thickened skin, Atopic dermatitis, Recurrent otitis media, Dry skin, Petechiae |
OMIM:620331 |
Loeys-Dietz Syndrome |
|
Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissec... |
ORPHA:60030 |
Hyperoxaluria, Primary, Type I |
|
Raynaud phenomenon, Arterial occlusion, Peripheral arterial stenosis, Atrioventricular block, Int... |
OMIM:259900 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmun... |
ORPHA:911 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Skin ulcer |
ORPHA:86884 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Joint stiffness, Abnormality of the elbow, Hip dislocation, Hyperkeratosis, Ichthyosis, Synostosi... |
ORPHA:1005 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Cubitus valgus, Patent ductus arteriosus, Coarctation of aorta, ... |
OMIM:605275 |
Mpdu1-Cdg |
|
Scaling skin, Eczema, Ichthyosis |
ORPHA:79323 |
Incontinentia Pigmenti |
|
Maculopapular exanthema, Keratitis, Erythema, Retinal hemorrhage, Uveitis, Hyperkeratosis, Pallor |
OMIM:308300 |
Leukocyte Adhesion Deficiency, Type I |
|
Skin ulcer, Osteomyelitis, Periodontitis, Chronic mucocutaneous candidiasis |
OMIM:116920 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Congestive heart failure, Myocarditis, Vasculitis, Hepatitis, Cheilitis,... |
ORPHA:2331 |
Free Sialic Acid Storage Disease |
|
Skin ulcer, Reduced bone mineral density |
ORPHA:834 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Joint laxity, Eczema, Hyperkeratosis, Ichthyosis, Pulmonic stenosis, Webbed... |
OMIM:607721 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Thickened skin, Acne, Seborrheic dermatitis |
OMIM:167100 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Erythema nodosum, Pruritus, Antinuclear antibody... |
OMIM:613471 |
Immunodeficiency 55 |
|
Dry skin, Recurrent skin infections, Eczema, Ichthyosis |
OMIM:617827 |
Sialidosis Type 1 |
|
Hyperkeratosis, Cherry red spot of the macula |
ORPHA:812 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Vulval varicose vein, Varicose veins, Syncope, Renal artery... |
ORPHA:71273 |
B4Galt1-Cdg |
|
Inflammatory abnormality of the skin, Redundant neck skin |
ORPHA:79332 |
Hereditary Mucoepithelial Dysplasia |
|
Hyperkeratosis |
ORPHA:1839 |
Immunodeficiency 85 And Autoimmunity |
|
Eczema, Oligoarthritis, Decreased circulating total IgM, Decreased circulating IgE, Erythroderma,... |
OMIM:619510 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Telangiectasia of the skin, Keratitis, Thickened skin, Erythema, Tel... |
ORPHA:910 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Neutropenia in pr... |
OMIM:615952 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Abnormal atrioventricular conduction, Precocious atherosclerosis, Su... |
ORPHA:280365 |
Cardiofaciocutaneous Syndrome |
|
Redundant skin, Genu valgum, Hyperkeratosis, Excessive wrinkled skin, Palmoplantar keratoderma, I... |
ORPHA:1340 |
Nail-Patella Syndrome |
|
Flexion contracture, Patellar hypoplasia, Knee flexion contracture, Reduced bone mineral density,... |
ORPHA:2614 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Osteomyelitis, Pustule, Atopic dermatitis, Hypovolemic shock, Arrhythmia |
ORPHA:171876 |
Premature Aging Syndrome, Penttinen Type |
|
Prominent superficial veins, Recurrent fractures, Hyperextensibility of the knee, Thickened skin,... |
OMIM:601812 |
Lymphatic Malformation 12 |
|
Hyperkeratosis |
OMIM:620014 |
Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Hypergranulosis, Erythema, Palmoplantar hyperkeratosis, Follicular hyperk... |
OMIM:257980 |
Hermansky-Pudlak Syndrome 9 |
|
Recurrent skin infections |
OMIM:614171 |
Hyperlipoproteinemia, Type Id |
|
Colitis, Recurrent pancreatitis, Pancreatitis, Premature coronary artery atherosclerosis |
OMIM:615947 |
Fibromuscular Dysplasia, Multifocal |
|
Tortuous cerebral arteries, Vertebral artery tortuosity, Celiac artery dissection, Dilatation of ... |
OMIM:619329 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Autoimmune hemolytic anemia, Sinusitis, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Acu... |
ORPHA:572 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Osteopenia, Joint dislocation, Congenital hip dislocation, Joint lax... |
OMIM:225400 |
Chime Syndrome |
|
Erythema, Hip dislocation, Osteolysis, Skin ulcer, Hyperkeratosis, Transposition of the great art... |
ORPHA:3474 |
Tangier Disease |
|
Accelerated atherosclerosis, Coronary artery stenosis, Carotid artery stenosis |
ORPHA:31150 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Transient ischemic attack, Cholangitis, Eczema, Pulmonary e... |
ORPHA:3260 |
Infantile Myofibromatosis |
|
Limitation of joint mobility, Skin ulcer, Osteolysis, Chondrocalcinosis |
ORPHA:2591 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Intracranial hemorrhage, Hypertension, Aortic root aneurysm, Aortic ath... |
ORPHA:363618 |
Intrahepatic Cholestasis Of Pregnancy |
|
Skin rash, Autoimmunity, Pruritus, Pruritus on foot, Cholecystitis, Palmar pruritus |
ORPHA:69665 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Follicular hyperkeratosis |
ORPHA:1809 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... |
ORPHA:324 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Tachycardia, Skin rash, Heart block, Capillary leak, Reduced lef... |
ORPHA:542323 |
Cogan Syndrome |
|
Aortic regurgitation, Episcleritis, Keratitis, Vasculitis, Large vessel vasculitis, Uveitis, Scle... |
ORPHA:1467 |
Beta-Thalassemia Intermedia |
|
Osteopenia, High-output congestive heart failure, Osteoporosis, Skin ulcer, Reduced bone mineral ... |
ORPHA:231222 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Single coronary artery origin, Abnormal coronary artery morpho... |
ORPHA:3384 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Arthritis, Osteomyelitis, Septic arthritis |
OMIM:619423 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Carotid artery stenosis, Prominent veins on trunk, Varicose veins, Aortic root aneurysm, Keratoco... |
ORPHA:536532 |
Adult Polyglucosan Body Disease |
|
Limitation of joint mobility, Skin ulcer |
ORPHA:206583 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Atopic dermatitis, Hyperkeratosis, Ichthyosi... |
OMIM:115150 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Raynaud phenomenon, Discoid lupus rash, Antinuclear antibody positivity, Anti-La... |
ORPHA:536 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... |
OMIM:307200 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Abnormal cerebral vascular morphology, Reduced bone mineral density, Prem... |
ORPHA:79474 |
Lymphatic Filariasis |
|
Glomerulonephritis, Ankle swelling, Orchitis, Lymphadenitis, Knee osteoarthritis, Epididymitis, H... |
ORPHA:2035 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertension, Coronary artery stenosis, Stroke, Myocardial infarction |
OMIM:615812 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Subungual hyperkeratosis, Recurrent skin infections, Eczema, Perianal er... |
OMIM:308205 |
Bone Marrow Failure Syndrome 3 |
|
Congenital hip dislocation, Eczema, Reduced bone mineral density, Hyperkeratosis, Joint hypermobi... |
OMIM:617052 |
Wilson Disease |
|
Pruritus, Hepatitis, Joint swelling, Arthritis, Acute hepatitis, Pathologic fracture |
ORPHA:905 |
Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:28378 |
Arthrogryposis And Ectodermal Dysplasia |
|
Dry skin, Hyperkeratosis, Camptodactyly, Arthrogryposis multiplex congenita, Joint contracture of... |
OMIM:601701 |
Dominant Beta-Thalassemia |
|
High-output congestive heart failure, Dilated cardiomyopathy, Osteoporosis, Skin ulcer, Chronic h... |
ORPHA:231226 |
Alpha-Mannosidosis |
|
Chronic otitis media, Arthritis, Synostosis of joints |
ORPHA:61 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Rheumatoid factor positive, Eczema, Perianal abscess, Lymphadenitis, Recurren... |
OMIM:618935 |
Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Lip telangiectasia, Lacunar stroke, Hyperkeratosis, Dry skin, ... |
OMIM:609242 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Hypertension, Acne, Osteoporosis |
OMIM:615830 |
Estrogen Resistance |
|
Osteopenia, Acne, Acanthosis nigricans |
OMIM:615363 |
Estrogen Resistance Syndrome |
|
Osteopenia, Acne, Delayed epiphyseal ossification, Osteoporosis, Acanthosis nigricans, Coronary a... |
ORPHA:785 |
Alkaptonuria |
|
Joint dislocation, Myocardial infarction, Joint stiffness, Coronary artery calcification, Osteoar... |
ORPHA:56 |
Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Cheilitis |
ORPHA:2483 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral eczema |
OMIM:613960 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Skin rash, Allergic rhinitis |
OMIM:612714 |
Dyskeratosis Congenita |
|
Telangiectasia of the skin, Recurrent fractures, Osteoporosis, Skin ulcer, Palmoplantar keratoder... |
ORPHA:1775 |
Attenuated Chédiak-Higashi Syndrome |
|
Epistaxis, Skin ulcer |
ORPHA:352723 |
Gaucher Disease, Perinatal Lethal |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Arthrogryposis mult... |
OMIM:608013 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Panniculitis, Vasculitis, Skin rash, Joint swelling |
OMIM:617099 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Vascular dilatation |
OMIM:613177 |
Waardenburg Syndrome, Type 2E |
|
Vascular dilatation |
OMIM:611584 |
Behçet Disease |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Myositis, Increased inflammatory response, Acn... |
ORPHA:117 |
Warburg-Cinotti Syndrome |
|
Ankle flexion contracture, Erythema, Elbow flexion contracture, Osteolytic defects of the phalang... |
OMIM:618175 |
Vascular Ehlers-Danlos Syndrome |
|
Peripheral arteriovenous fistula, Arterial dissection, Transient ischemic attack, Telangiectasia ... |
ORPHA:286 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Intestinal bleeding, Skin ulcer |
ORPHA:424019 |
Smith-Lemli-Opitz Syndrome |
|
Eczema, Cryptorchidism, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration,... |
OMIM:270400 |
Cushing Disease |
|
Acne, Myocardial infarction, Osteoporosis, Recurrent cutaneous fungal infections, Skin ulcer, Hyp... |
ORPHA:96253 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis |
ORPHA:163966 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Inflammatory abnormality of the skin, Pneumonia, Dilated card... |
ORPHA:26793 |
Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Sinusitis, Stiff neck, Pneumonia, Pustule, Skin ulcer, Arrhythmia, Infect... |
ORPHA:68 |
3P25.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Coronary artery atherosclerosis, Pulmonic stenosis |
ORPHA:435638 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hyperkeratosis, Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia |
ORPHA:79280 |
Atopic Keratoconjunctivitis |
|
Keratitis, Keratoconjunctivitis sicca, Dry skin, Blepharitis, Corneal neovascularization |
ORPHA:163934 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Pruritus, Peritonitis, Vascu... |
ORPHA:228123 |
Duane-Radial Ray Syndrome |
|
Vascular dilatation |
OMIM:607323 |
Lymphedema-Distichiasis Syndrome |
|
Recurrent skin infections, Patent ductus arteriosus, Tubulointerstitial nephritis, Varicose veins... |
ORPHA:33001 |
Donohue Syndrome |
|
Acanthosis nigricans, Hyperkeratosis |
OMIM:246200 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... |
ORPHA:324636 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Portal hypertension, Joint stiffness, Congestive heart failure, Osteoporosis, Cardio... |
ORPHA:465508 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Plantar hyperkeratosis, Porokeratosis, Telangiectasia of the skin, Skin rash, Aplasia... |
ORPHA:2909 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Decreased circulat... |
ORPHA:3261 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Arthritis, Cervical subluxation |
OMIM:184100 |
Williams Syndrome |
|
Abnormal cerebral vascular morphology, Myocardial infarction, Chronic otitis media, Overriding ao... |
ORPHA:904 |
Loeys-Dietz Syndrome 2 |
|
Aortic arch aneurysm, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descending... |
OMIM:610168 |
Roifman-Chitayat Syndrome |
|
Osteopenia, Arthritis, Pneumonia |
OMIM:613328 |
Immunodeficiency 12 |
|
Skin rash, Osteoporosis, Cheilitis, Bronchiectasis, Recurrent aphthous stomatitis |
OMIM:615468 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Mitral stenosis, Recurrent fractures, Thickened skin, Patent ductus arteriosus, Osteo... |
ORPHA:955 |
Currarino Syndrome |
|
Perianal abscess, Vascular dilatation |
OMIM:176450 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin |
ORPHA:79431 |
Brooke-Spiegler Syndrome |
|
Skin ulcer |
ORPHA:79493 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Abnormality of temperature regulation, Short stature, Hypothermia |
OMIM:618493 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob... |
OMIM:300755 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Lymphadenitis, Congestive heart failure, Dilated cardiomyopathy, Hematochezia, Cardiomyop... |
OMIM:615895 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Lymphadenitis, Pallor |
ORPHA:331206 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Thickened skin, Skin ulcer, Panniculitis, Scaling skin, Dry skin, Erysipelas |
ORPHA:2526 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Myocardial infarction, Myocarditis, Uveitis,... |
ORPHA:3452 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Peripheral arterial stenosis, Heart murmur, Cardiomyopathy, Hypertension, Abnormal aortic morphol... |
ORPHA:217085 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Acantholysis, Kerat... |
ORPHA:95455 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Recurrent otitis media, Eczema |
OMIM:619774 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Intraventricular hemorrhage, Recurrent pneumonia, Erythem... |
ORPHA:420741 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Peripheral arterial stenosis, Heart murmur, Cardiomyopathy, Hypertension, Abnormal aortic morphol... |
ORPHA:217093 |
Leprosy |
|
Epistaxis, Penetrating foot ulcers, Uveitis, Hyperkeratosis, Acral ulceration, Iritis |
ORPHA:548 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Osteomyelitis, Neuropathic arthropathy, Keratitis, Acral ulceration, Postural hypotension with co... |
OMIM:256800 |
Joubert Syndrome 35 |
|
Abnormality of temperature regulation |
OMIM:618161 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hyperkeratosis with erythema, Epiphyseal stippling, Knee flexion contracture |
OMIM:118650 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis, Gout |
ORPHA:411543 |
Loeys-Dietz Syndrome 1 |
|
Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descending thoracic aorta aneury... |
OMIM:609192 |
Mucopolysaccharidosis Type 2 |
|
Peripheral arterial stenosis, Cardiomyopathy, Hypertension, Abnormal aortic morphology, Hip osteo... |
ORPHA:580 |
Refractory Celiac Disease |
|
Inflammatory abnormality of the skin, Autoimmune antibody positivity, Osteoporosis |
ORPHA:398063 |
Medullary cystic kidney disease 2 |
|
Tubulointerstitial nephritis, Gout |
OMIM:603860 |
Thrombocytopenia 1 |
|
Epistaxis, Joint hemorrhage, Eczema, Petechiae |
OMIM:313900 |
Hyper-Igd Syndrome |
|
Skin rash, Lymphadenitis, Arthritis, Chronic oral candidiasis, Molluscum contagiosum, Serositis |
OMIM:260920 |
Autosomal Dominant Hypocalcemia |
|
Eczema, Congestive heart failure, Reduced bone mineral density, Hypotension, Arrhythmia, Dry skin |
ORPHA:428 |
Orofaciodigital Syndrome Type 1 |
|
Chronic otitis media, Hypertension, Vascular dilatation |
ORPHA:2750 |
Beta-Thalassemia Major |
|
High-output congestive heart failure, Dilated cardiomyopathy, Osteoporosis, Skin ulcer, Genu valg... |
ORPHA:231214 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Vasculitis, Hepatitis, Atopic ... |
OMIM:615846 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Foot osteomyelitis, Acral ulceration |
OMIM:256840 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Congenital hip dislocation, Joint hypermobility, Cerebral hemorrhage, Dislocated wris... |
ORPHA:536545 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperkera... |
ORPHA:79501 |
Stickler Syndrome, Type I |
|
Arthropathy, Joint stiffness, Osteoarthritis, Arthritis, Joint hypermobility |
OMIM:108300 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, Tricuspid regurgitation, Patent ductus arteriosus, Aortic rupture, Cutis laxa, Mitral... |
OMIM:614557 |
Occipital Horn Syndrome |
|
Venous insufficiency, Esophagitis, Hepatitis, Vascular dilatation |
ORPHA:198 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Autoimmune hemolytic anemi... |
OMIM:102700 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Nephritis, Infectious encephalitis, Un... |
ORPHA:73263 |
Orofaciodigital Syndrome I |
|
Hypertension, Vascular dilatation |
OMIM:311200 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Arthritis |
ORPHA:397744 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly |
OMIM:610644 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Abnormal left ventricular function, Conjunctivitis, Cholecystiti... |
ORPHA:99827 |
Marfan Syndrome |
|
Arthralgia/arthritis, Congestive heart failure, Descending aortic dissection, Dilatation of an ab... |
ORPHA:558 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Urinary bladder inflammation, Thickened skin, Flexion contracture, Erythema, Bronchiec... |
ORPHA:99921 |
Eec Syndrome |
|
Keratitis, Inflammatory abnormality of the eye, Hyperkeratosis, Dry skin, Blepharitis |
ORPHA:1896 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Osteomalacia, Bronchie... |
OMIM:619381 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis, Orthostatic hypotension |
OMIM:615510 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Perianal abscess, Arthritis, Inflammation of the large intestine, C... |
OMIM:301074 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis |
ORPHA:411536 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Abnormality of temperature regulation |
OMIM:619173 |
Wiskott-Aldrich Syndrome |
|
Autoimmune hemolytic anemia, Eczema, Epistaxis, Hematemesis, Recurrent pneumonia, Large vessel va... |
OMIM:301000 |
Familial Mediterranean Fever |
|
Pericarditis, Orchitis, Peritonitis, Arthritis, Crohn's disease, Erysipelas |
OMIM:249100 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Thickened skin, Cardiomyopathy, Hyperkeratosis |
ORPHA:79430 |
Shigellosis |
|
Pneumonia, Myocarditis, Peritonitis, Uveitis, Ulcerative colitis, Arthritis, Hypovolemic shock, C... |
ORPHA:810 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Joint dislocation, Joint laxity, Eczema, Tracheomalacia, Craniosynostosis, Intraventricular hemor... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Joint dislocation, Joint laxity, Eczema, Tracheomalacia, Craniosynostosis, Intraventricular hemor... |
ORPHA:363958 |
Neurofibromatosis Type 1 |
|
Hypertension, Arterial stenosis |
ORPHA:636 |
Phacoanaphylactic Uveitis |
|
Anterior uveitis, Keratitis, Hyphema, Retinal arteritis, Panuveitis, Posterior uveitis |
ORPHA:209959 |
Farber Disease |
|
Abnormality of the knee, CNS foam cells, Flexion contracture, Osteoporosis, Abnormality of the el... |
ORPHA:333 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Chilblains, Autoimmunity, Raynaud phenomenon, Calcificatio... |
ORPHA:51 |
Adult Syndrome |
|
Dry skin, Thin skin, Skin ulcer |
ORPHA:978 |
Meckel Syndrome, Type 1 |
|
Patent ductus arteriosus, Vascular dilatation, Coarctation of aorta |
OMIM:249000 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Eczema, Camptodactyly of finger, Keratitis, Erythema, Cheilitis, Uveitis, Scleritis... |
ORPHA:2273 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin infections, Perianal ab... |
ORPHA:2968 |
Kikuchi-Fujimoto Disease |
|
Skin rash, Pustule, Myocarditis, Pruritus, Vasculitis, Antinuclear antibody positivity, Erythema,... |
ORPHA:50918 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Joint... |
OMIM:613795 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Vascular dilatation |
OMIM:617641 |
Restrictive Dermopathy |
|
Osteopenia, Multiple joint contractures, Camptodactyly of finger, Epidermal hyperkeratosis, Paten... |
ORPHA:1662 |
Immunodeficiency 17 |
|
Recurrent otitis media, Autoimmune hemolytic anemia, Eczema, Chronic oral candidiasis |
OMIM:615607 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Painless fractures due to injury, Osteolytic defects of the phalanges of the hand, Acral ulcerati... |
OMIM:201300 |
Familial Tumoral Calcinosis |
|
Erythema, Skin rash |
ORPHA:53715 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Precocious atherosclerosis, Hypovolemia, Stroke, Hypotension, Pulmonary a... |
ORPHA:275761 |
Oculocerebrorenal Syndrome Of Lowe |
|
Osteomalacia, Recurrent fractures, Joint stiffness, Hip dislocation, Cheilitis, Skin ulcer, Genu ... |
ORPHA:534 |
Fucosidosis |
|
Generalized hyperkeratosis |
ORPHA:349 |
Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Maculopapular exanthema, Skin rash, Orchitis, Pancreatitis, Hyp... |
ORPHA:99826 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis |
OMIM:620189 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Acne, Myocardial infarction, Osteoporosis, Recurrent cutaneous fungal infections, Skin ulcer, Hyp... |
ORPHA:99889 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Tricuspid regurgitation, Dilation of Virchow-Robin spaces, Thickened sk... |
ORPHA:73223 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Prominent metopic ridge, Shoulder flexion contracture, Elbow dislocation, Delaye... |
OMIM:210710 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Acne, Autoimmunity, Seborrheic dermatitis, Retinal arteriolar tortuo... |
ORPHA:567 |
Machado-Joseph Disease Type 1 |
|
Abnormality of temperature regulation |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Abnormality of temperature regulation |
ORPHA:276241 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Calcification of the aorta, Skin ulcer, Varicose veins, Bacteri... |
ORPHA:2072 |
Mullerian Aplasia And Hyperandrogenism |
|
Acne |
OMIM:158330 |
Cockayne Syndrome Type 1 |
|
Postnatal growth retardation, Abnormality of temperature regulation |
ORPHA:90321 |
Cockayne Syndrome Type 3 |
|
Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aortic root aneurysm, Keratoconjunctivit... |
ORPHA:90324 |
Congenital Tufting Enteropathy |
|
Arthritis, Punctate keratitis |
ORPHA:92050 |
Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Cardiomyopathy, Dilatation of the ventricular cavity |
ORPHA:363623 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Skin rash, Pustule, Acute otitis media, Recurrent pneumonia, Chronic oral candidiasis |
ORPHA:35078 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limitation of joint mob... |
ORPHA:89936 |
Machado-Joseph Disease Type 3 |
|
Abnormality of temperature regulation |
ORPHA:276244 |
Stuve-Wiedemann Syndrome 1 |
|
Fever, Abnormality of temperature regulation, Short stature, Recurrent fever |
OMIM:601559 |
Ulnar-Mammary Syndrome |
|
Abnormality of temperature regulation, Short stature, Delayed puberty |
ORPHA:3138 |
Hydranencephaly |
|
Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Antenatal intr... |
ORPHA:2177 |
Restrictive Dermopathy 1 |
|
Limb joint contracture, Epidermal hyperkeratosis, Ankylosis, Patent ductus arteriosus, Flexion co... |
OMIM:275210 |
Multiple Osteochondromas |
|
Arthritis, Pseudoaneurysm, Hemothorax |
ORPHA:321 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Bronchiecta... |
ORPHA:90348 |
Leprechaunism |
|
Acanthosis nigricans, Hyperkeratosis, Hypertrophic cardiomyopathy, Thickened skin |
ORPHA:508 |
Leptospirosis |
|
Pericarditis, Skin rash, First degree atrioventricular block, Retinal hemorrhage, Uveitis, Hepati... |
ORPHA:509 |
6Q Terminal Deletion Syndrome |
|
Joint laxity, Hyperkeratosis, Prominent metopic ridge |
ORPHA:75857 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Hyperkeratosis, Blepharitis, Thin skin |
OMIM:129900 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Painless fractures due to injury, Osteomyelitis leading to amputation due to slow healing fractur... |
OMIM:256810 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Skin ulcer |
OMIM:245660 |
Cowden Syndrome |
|
Palmoplantar keratoderma, Generalized hyperkeratosis, Mucosal telangiectasiae |
ORPHA:201 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hyperkeratosis, Blepharitis |
OMIM:604292 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Penetrating foot ulcers |
ORPHA:99956 |
Deeah Syndrome |
|
Intrauterine growth retardation, Abnormality of temperature regulation, Short stature |
OMIM:619004 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Arthritis, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis |
OMIM:161700 |
Adenocarcinoma Of The Anal Canal |
|
Intestinal bleeding, Skin ulcer |
ORPHA:424016 |
Cerebrotendinous Xanthomatosis |
|
Precocious atherosclerosis, Premature coronary artery atherosclerosis |
ORPHA:909 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Abnormality of temperature regulation |
OMIM:209880 |
Johanson-Blizzard Syndrome |
|
Portal hypertension, Dilated cardiomyopathy, Vascular dilatation |
OMIM:243800 |
Sarcoidosis, Susceptibility To, 1 |
|
Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation of the large intestine, Pulmonary... |
OMIM:181000 |
Proteus Syndrome |
|
Sudden cardiac death, Joint stiffness, Pulmonary embolism, Craniosynostosis, Thickened skin, Hip ... |
ORPHA:744 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Joint hyperflexibility, Arthritis |
ORPHA:93111 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cherry red spot of the macula, Coronary artery atherosclerosis |
ORPHA:77293 |
Tetrasomy 9P |
|
Joint dislocation, Myositis, Juxtaductal coarctation of the aorta, Pericarditis, Raynaud phenomen... |
ORPHA:3310 |
Acute Transverse Myelitis |
|
Fever, Abnormality of temperature regulation |
ORPHA:139417 |
Autosomal Recessive Malignant Osteopetrosis |
|
Growth delay, Abnormality of temperature regulation |
ORPHA:667 |
Williams-Beuren Syndrome |
|
Portal hypertension, Retinal arteriolar tortuosity, Hypertension, Mitral regurgitation, Stroke, R... |
OMIM:194050 |
Lacrimoauriculodentodigital Syndrome |
|
Patent ductus arteriosus, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Corneal ne... |
ORPHA:2363 |
Aspartylglucosaminuria |
|
Chronic otitis media, Arthritis, Joint stiffness |
ORPHA:93 |
Choreoacanthocytosis |
|
Arthritis, Dilated cardiomyopathy |
ORPHA:2388 |
Split Cord Malformation |
|
Penetrating foot ulcers |
ORPHA:573278 |
Gastric Cancer |
|
|
OMIM:613659 |