| Dermatitis Herpetiformis, Familial |
|
Pruritus |
OMIM:601230 |
| Pruritus, Hereditary Localized |
|
Pruritus |
OMIM:177100 |
| Lichen Amyloidosis |
|
Pruritus |
ORPHA:49804 |
| Linear Atrophoderma Of Moulin |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:140933 |
| Dermatitis, Atopic |
|
Keratoconus, Cataract, Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Asthma, At... |
OMIM:603165 |
| Brittle Cornea Syndrome 1 |
|
Keratoconus, Red hair, Atypical scarring of skin, Keratoglobus, Abnormal cornea morphology, Mollu... |
OMIM:229200 |
| Classic Mycosis Fungoides |
|
Alopecia, Skin rash, Eczema, Pruritus, Erythema, Hypopigmented skin patches, Skin ulcer, Skin pla... |
ORPHA:2584 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Asthma, Skin ulcer, Malar ra... |
ORPHA:90280 |
| Juvenile Hyaline Fibromatosis |
|
Death in infancy, Aplasia/Hypoplasia of the skin, Abnormal hair morphology, Subcutaneous nodule, ... |
ORPHA:2028 |
| Non-Epidermolytic Palmoplantar Keratoderma |
|
Papule, Erythema, Skin ulcer, Pruritus |
ORPHA:2337 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atroph... |
ORPHA:542592 |
| Flynn-Aird Syndrome |
|
Alopecia, Cataract, Cachexia, Kyphosis, Skin ulcer, Dermal atrophy, Scoliosis |
ORPHA:2047 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Subcutaneous nodule, Skin ulcer |
ORPHA:231 |
| Proliferating Trichilemmal Cyst |
|
Sparse scalp hair, Epidermoid cyst, Skin ulcer |
ORPHA:492 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess |
OMIM:619986 |
| Acrogeria |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Fine hair, Excessive wrinkled skin, Thin skin, Scoliosis |
ORPHA:2500 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia |
ORPHA:141152 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Eczema, Death in adolescence, Stillbirth, Scoliosis, Neonatal death, Pulmon... |
OMIM:619751 |
| Lichen Planopilaris |
|
Alopecia, Pruritus, Hypopigmented skin patches, Skin ulcer, Dermal atrophy, Pterygium, Papule |
ORPHA:525 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Hyperkeratosis Lenticularis Perstans |
|
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer, Pruritus |
ORPHA:409 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Cataract, Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory insufficiency, Scoliosis |
OMIM:617404 |
| Chilblain Lupus 1 |
|
Chilblains, Skin ulcer |
OMIM:610448 |
| Reticular Dysgenesis |
|
Failure to thrive, Skin rash, Skin ulcer, Weight loss |
ORPHA:33355 |
| Dermatofibrosarcoma Protuberans |
|
Subcutaneous nodule, Erythema, Skin ulcer |
ORPHA:31112 |
| Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Keratitis, Skin ulcer, Scoliosis, Dystrophic fingernails, Dystrop... |
ORPHA:1657 |
| Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Skin ulcer, Failure to th... |
ORPHA:229717 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Skin rash, Recurrent pneumonia, Hypop... |
ORPHA:47 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Respi... |
OMIM:600561 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Conjunctival hamartoma, Erythroderma, Skin ulcer, Weight loss |
ORPHA:312 |
| Prolidase Deficiency |
|
Chronic lung disease, Eczema, Asthma, Recurrent pneumonia, Crusting erythematous dermatitis, Skin... |
OMIM:170100 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic dermatitis, Skin ulcer, Recurrent ... |
ORPHA:217390 |
| Aplasia Cutis Congenita |
|
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin |
ORPHA:1114 |
| Amyloidosis, Primary Localized Cutaneous, 2 |
|
Pruritus |
OMIM:613955 |
| Bare Lymphocyte Syndrome, Type I |
|
Ectopia lentis, Bronchiectasis, Skin ulcer, Emphysema, Chronic sinusitis |
OMIM:604571 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Skin rash, Eczema, Abnormal hair morphology, Pruritus, Skin ulcer, Scoliosis, Cough, Skin vesicle... |
ORPHA:2314 |
| Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Reduced forced expiratory volume in one second, Kyphosis, Keratoglobus, Restrictive ... |
OMIM:108145 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
| Rigid Spine Syndrome |
|
Pneumonia, Hyperlordosis, Spinal rigidity, Abnormality on pulmonary function testing, Respiratory... |
ORPHA:97244 |
| Myosclerosis, Autosomal Recessive |
|
Reduced forced vital capacity, Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity |
OMIM:255600 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Skin ulcer, Fine hair, Microcornea, Keratoconjunctivit... |
ORPHA:1806 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Recurrent skin infections, Chronic pulmonary obstruction, Pyoderma gangrenosum, Bronchi... |
OMIM:616576 |
| Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail... |
OMIM:614399 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Pulmonary embolism, Skin ulcer, Thin skin, Purpura |
ORPHA:743 |
| Mucolipidosis Type Iii |
|
Acne, Corneal opacity, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:577 |
| Familial Multiple Nevi Flammei |
|
Hypermelanotic macule, Pulmonary embolism, Skin ulcer, Scoliosis, Nevus flammeus, Papule |
ORPHA:624 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
ORPHA:70589 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Respiratory insufficiency due to muscle wea... |
OMIM:300718 |
| Takayasu Arteritis |
|
Subcutaneous nodule, Skin ulcer, Weight loss, Pulmonary arterial hypertension, Abnormal pattern o... |
ORPHA:3287 |
| Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
| Acrodermatitis Enteropathica |
|
Abnormal eyebrow morphology, Alopecia, Failure to thrive, Pustule, Corneal erosion, Erythema, Ski... |
ORPHA:37 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Acral ulceration, Skin ulcer |
ORPHA:139578 |
| Leishmaniasis |
|
Skin ulcer, Weight loss, Rhinitis, Pallor, Skin plaque, Papule |
ORPHA:507 |
| Prolidase Deficiency |
|
Aplasia/Hypoplasia of the skin, Pruritus, Erythema, Low anterior hairline, Hirsutism, Skin ulcer,... |
ORPHA:742 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Keratoconus 9 |
|
Keratoconus, Decreased corneal thickness |
OMIM:617928 |
| Free Sialic Acid Storage Disease |
|
Failure to thrive in infancy, Skin ulcer, Iris hypopigmentation |
ORPHA:834 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
| Ollier Disease |
|
Platyspondyly, Subcutaneous nodule, Skin ulcer |
ORPHA:296 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
| Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Exertional dyspnea, Slender build, Hyperlordosis |
ORPHA:352470 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Kyphoscoliosis |
OMIM:619099 |
| Perching Syndrome |
|
Respiratory distress, Scoliosis |
OMIM:617055 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract, Scoliosis, Hyperlordosis |
ORPHA:2310 |
| Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
| Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Death in infancy, Cachexia, Spinal rigidity, Hyperlordosis, Respiratory insufficiency |
ORPHA:157973 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Limited Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Hypopigmented skin patches, Skin ulcer |
ORPHA:220402 |
| Microtriplication 11Q24.1 |
|
Keratoconus, Short neck, Synophrys, Obesity, Long eyelashes, Scoliosis, Thick eyebrow |
ORPHA:289522 |
| Diastrophic Dysplasia |
|
Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscoliosis, Scoliosis, Ne... |
OMIM:222600 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure, Short neck |
ORPHA:1832 |
| Retinitis Pigmentosa |
|
Keratoconus, Cataract, Obesity, Atypical scarring of skin |
ORPHA:791 |
| Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Failure to thrive, Scoliosis |
OMIM:300934 |
| Familial Anetoderma |
|
Lumbar hyperlordosis, Papule |
ORPHA:228277 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Reduced vital capacity, Hyperlordosis |
OMIM:607088 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Lumbar hyperlordosis, Respiratory insufficiency, Scoliosis |
OMIM:619042 |
| Keratoconus Posticus Circumscriptus |
|
Keratoconus, Central posterior corneal opacity, Abnormal vertebral segmentation and fusion, Short... |
OMIM:244600 |
| Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... |
ORPHA:254875 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
| Werner Syndrome |
|
Sparse scalp hair, Aplasia/Hypoplasia of the skin, Cataract, Miscarriage, Abnormal hair whorl, La... |
ORPHA:902 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Astigmatism, Scoliosis |
OMIM:615761 |
| Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cataract, Hyperlordosis, Kyphosis, Obesity, Keloids, Dry skin |
ORPHA:3085 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Cataract, Skin ulcer, Interstitial pneumonitis, Dermal atro... |
ORPHA:454831 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Slender build, Respiratory insufficiency, Scoliosis, Hyperlordosis |
OMIM:620389 |
| Atelosteogenesis, Type Ii |
|
Death in infancy, Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral s... |
OMIM:256050 |
| X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Respiratory insufficiency due to muscle weakness, Scoliosis, Hyperlordosis |
OMIM:611067 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... |
OMIM:609223 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Polyarteritis Nodosa |
|
Erythema, Subcutaneous nodule, Skin ulcer, Weight loss |
ORPHA:767 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Penetrating foot ulcers, Skin ulcer, Cough |
ORPHA:36386 |
| Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
| Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
| Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
| Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
| Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
| Incontinentia Pigmenti |
|
Alopecia, Cataract, Corneal opacity, Skin rash, Supernumerary nipple, Keratitis, Abnormal hair mo... |
ORPHA:464 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Spinal rigidity, Respiratory insufficiency due to muscle weakness, Hyperlordosis, Respiratory ins... |
OMIM:161800 |
| Reynolds Syndrome |
|
Skin rash, Pruritus, Respiratory insufficiency, Skin ulcer, Keratoconjunctivitis sicca |
ORPHA:779 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Decreased body weight |
OMIM:300580 |
| Brittle Cornea Syndrome |
|
Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal scarring, Keratoglo... |
ORPHA:90354 |
| Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
| Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Weight loss, Cough, Pleura... |
ORPHA:50251 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Obesity, Scoliosis |
OMIM:616756 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Obesity |
OMIM:615993 |
| Infantile Myofibromatosis |
|
Abnormal hair morphology, Abnormal sacrum morphology, Subcutaneous nodule, Skin ulcer |
ORPHA:2591 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Kyphoscoliosis |
OMIM:617977 |
| Juvenile Dermatomyositis |
|
Alopecia, Skin rash, Pruritus, Dyspnea, Erythema, Skin ulcer, Weight loss, Restrictive ventilator... |
ORPHA:93672 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Skin dimple, Thin skin, Sparse hair, Failure to thrive, Aplasia/Hypoplasia ... |
ORPHA:261304 |
| Brooke-Spiegler Syndrome |
|
Skin-colored papule, Skin nodule, Skin ulcer, Nodular changes affecting the eyelids |
ORPHA:79493 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
| Pyoderma Gangrenosum |
|
Pustule, Skin ulcer, Atrophic scars, Skin vesicle, Papule |
ORPHA:48104 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
| Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract |
OMIM:204100 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Restrictive ventilatory defect, Scoliosis, Hyperlordosis |
OMIM:615290 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Failure to thrive, Respiratory insufficiency due to muscle weakness, Pallor |
OMIM:613561 |
| Tularemia |
|
Respiratory distress, Skin rash, Pneumonia, Erythema nodosum, Localized skin lesion, Pleural effu... |
ORPHA:3392 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... |
ORPHA:1302 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Reduced vital capacity, Cataract, Kyphoscoliosis, Developmental glaucoma, Penetrating foot ulcers... |
ORPHA:99956 |
| Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
| Leber Congenital Amaurosis 4 |
|
Keratoconus |
OMIM:604393 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Pyoderma gangrenosum, Acne |
OMIM:604416 |
| Myasthenic Syndrome, Congenital, 5 |
|
Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, Scoliosis, Hyperlord... |
OMIM:603034 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy, Failure to thrive |
OMIM:616974 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Alopecia, Eczema, Tachypnea, Weight loss, Keratoconjunctivitis, Perioral ec... |
ORPHA:79242 |
| Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract |
OMIM:204000 |
| Papa Syndrome |
|
Pustule, Acne, Skin ulcer |
ORPHA:69126 |
| Beta-Thalassemia |
|
Respiratory insufficiency, Pallor, Skin ulcer |
ORPHA:848 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Dyspnea, Exertional dyspnea, Slender build, Hyperlordosis |
OMIM:615156 |
| Hereditary Acrokeratotic Poikiloderma |
|
Eczema, Pustule, Erythema, Hypopigmented skin patches, Skin ulcer, Keratoconjunctivitis, Dystroph... |
ORPHA:2907 |
| Chronic Mucocutaneous Candidiasis |
|
Skin rash, Pruritus, Erythema, Skin ulcer, Cough, Papule |
ORPHA:1334 |
| Toxic Epidermal Necrolysis |
|
Macule, Respiratory distress, Corneal erosion, Erythema, Skin ulcer, Weight loss, Restrictive ven... |
ORPHA:537 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Dyspnea, Scoliosis, Cough |
ORPHA:86812 |
| Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Skin ulcer, Atypical scarring of ... |
ORPHA:90186 |
| Dystonia 31 |
|
Abnormal posturing |
OMIM:619565 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... |
ORPHA:264675 |
| Attenuated Chédiak-Higashi Syndrome |
|
Ocular albinism, Epistaxis, Skin ulcer |
ORPHA:352723 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Failure to thrive |
ORPHA:26792 |
| Fusariosis |
|
Sinusitis, Maculopapular exanthema, Pneumonia, Productive cough, Keratitis, Subcutaneous nodule, ... |
ORPHA:228119 |
| Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:602484 |
| Ck Syndrome |
|
Kyphosis, Slender build, Scoliosis, Hyperlordosis |
OMIM:300831 |
| Myasthenic Syndrome, Congenital, 16 |
|
Apnea, Hyperlordosis |
OMIM:614198 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Skin dimple, Respiratory insufficiency due to muscle weakness, Scoliosis |
ORPHA:1143 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
| Mulchandani-Bhoj-Conlin Syndrome |
|
Hypermelanotic macule, Hyperlordosis, Cafe-au-lait spot, Scoliosis, Failure to thrive |
OMIM:617352 |
| Isolated Glycerol Kinase Deficiency |
|
Scoliosis, Hyperlordosis |
ORPHA:408 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Skin tags, Respiratory distress, Central apnea, Lumbar hyperlordosis, Redundant skin, Kyphosis, W... |
OMIM:616482 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Scoliosis |
OMIM:615042 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Keratitis, Corneal scarring, Acral ulceration, Recurrent corneal erosions, Opa... |
OMIM:256800 |
| Congenital Myopathy 16 |
|
Lumbar hyperlordosis, Scoliosis, Spinal rigidity |
OMIM:618524 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Erythematous plaque, Erythematous papule, Skin ulcer, Weight loss |
ORPHA:86884 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
| Anauxetic Dysplasia 2 |
|
Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, Posterior wedgin... |
OMIM:617396 |
| Acquired Purpura Fulminans |
|
Macule, Erythematous macule, Skin rash, Pyoderma gangrenosum, Macular purpura |
ORPHA:49566 |
| Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
| Granulomatosis With Polyangiitis |
|
Sinusitis, Keratitis, Skin ulcer, Respiratory insufficiency, Weight loss, Conjunctivitis, Cough, ... |
OMIM:608710 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Pyoderma gangrenosum, Bronchiectasis, Chronic oral candidiasis |
OMIM:150550 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Failure to thrive |
ORPHA:91130 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Scoliosis, Hyperlordosis |
ORPHA:2501 |
| Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis |
OMIM:619966 |
| Mucolipidosis Iii Gamma |
|
Hyperlordosis, Short neck, Kyphosis, Scoliosis, Opacification of the corneal stroma |
OMIM:252605 |
| Dyskeratosis Congenita |
|
Macule, Abnormal eyebrow morphology, Alopecia, Aplasia/Hypoplasia of the skin, Cataract, Hypermel... |
ORPHA:1775 |
| Nemaline Myopathy 2 |
|
Apnea, Spinal rigidity, Respiratory insufficiency due to muscle weakness, Hyperlordosis, Scoliosi... |
OMIM:256030 |
| Nemaline Myopathy 7 |
|
Respiratory insufficiency due to muscle weakness, Lumbar hyperlordosis, Kyphoscoliosis |
OMIM:610687 |
| Leber Congenital Amaurosis |
|
Keratoconus, Cataract |
ORPHA:65 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Lumbar hyperlordosis |
ORPHA:280333 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Erythema, Skin ulcer, Skin fissure, Sparse hair |
ORPHA:659 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive |
OMIM:263000 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
| Irida Syndrome |
|
Pallor |
ORPHA:209981 |
| Chronic Granulomatous Disease |
|
Macule, Sinusitis, Hypermelanotic macule, Eczema, Chronic pulmonary obstruction, Skin ulcer |
ORPHA:379 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
| Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
| Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Generalized hirsutism, Skin ulcer |
ORPHA:2218 |
| Cryoglobulinemic Vasculitis |
|
Keratoconjunctivitis sicca, Petechiae, Skin ulcer, Purpura |
ORPHA:91138 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Lumbar hyperlordosis, Reduced forced vital capacity, Respiratory insufficiency due to muscle weak... |
OMIM:255310 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Frontal balding, Early balding, Bl... |
ORPHA:3041 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Cataract, Low posterior hairline, Scoliosis, Hyperlordosis |
ORPHA:1387 |
| Costello Syndrome |
|
Keratoconus, Failure to thrive in infancy, Redundant skin, Short neck, Abnormal hair morphology, ... |
ORPHA:3071 |
| Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Hyperlordosis |
ORPHA:363454 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Alopecia, Conjunctivitis, Erythroderma, Sparse hair, Failure to thrive |
OMIM:242150 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| Pgm3-Cdg |
|
Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, Recurrent pneumonia, Bronchiectasis... |
ORPHA:443811 |
| Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Melanocytic nevus, Fine hair, Thin skin, ... |
ORPHA:978 |
| Hajdu-Cheney Syndrome |
|
Failure to thrive, Cataract, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Synophrys, L... |
ORPHA:955 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Highly arched eyebrow, Hirsutism, Decreased corneal thickness |
ORPHA:293967 |
| Striatonigral Degeneration, Childhood-Onset |
|
Lumbar hyperlordosis |
OMIM:617054 |
| Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
| Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
| Calciphylaxis |
|
Abnormality of skin physiology, Skin ulcer |
ORPHA:280062 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Absent eyebrow, Dyspnea, Microcornea, Respiratory failure, Thin eyebrow, Pr... |
ORPHA:2707 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor |
ORPHA:49827 |
| Schimke Immunoosseous Dysplasia |
|
Macule, Lumbar hyperlordosis, Small for gestational age, Hypermelanotic macule, Ovoid vertebral b... |
OMIM:242900 |
| Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract |
OMIM:613835 |
| Mucopolysaccharidosis, Type Iva |
|
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... |
OMIM:253000 |
| Myopathic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Hyperlordosis, Kyphosis, Pallor, Scoliosis, Failure to thrive |
ORPHA:536516 |
| Giant Cell Arteritis |
|
Alopecia, Epistaxis, Skin ulcer, Weight loss, Cough |
ORPHA:397 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Kyphoscoliosis, Hyperlordosis, Obesity, Irregular vertebral endplates, Coronal cleft vertebrae, T... |
OMIM:618363 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Cataract, Acral ulceration |
OMIM:162400 |
| Microscopic Polyangiitis |
|
Sinusitis, Skin rash, Epistaxis, Erythema, Subcutaneous nodule, Skin ulcer |
ORPHA:727 |
| Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Sinusitis, Pneumonia, Pustule, Subcutaneous nodule, Skin ulcer, Corneal p... |
ORPHA:68 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Abnormal vertebral segmentation and fusion, Absent or minimally ossified ve... |
ORPHA:66637 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Erythema, Upper airway obstruction, Pruritus |
ORPHA:100057 |
| Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Pruritus, Subcutaneous nodule, Skin ulcer, Cough... |
ORPHA:556 |
| Livedoid Vasculopathy |
|
Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Skin ulcer, A... |
ORPHA:542643 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, F... |
OMIM:264180 |
| Infantile Systemic Hyalinosis |
|
Failure to thrive, Subcutaneous nodule, Skin ulcer, Short neck |
ORPHA:2176 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Restrictive ventilatory defect, Respiratory failure, S... |
OMIM:606612 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Kyphoscoliosis, Hyperlordosis, Increased vertebral height, Fine hair, ... |
OMIM:616817 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Failure to thrive, Cataract, Scoliosis |
ORPHA:544503 |
| Intellectual Disability And Myopathy Syndrome |
|
Lumbar hyperlordosis, Atopic dermatitis, Spotty hypopigmentation, Scoliosis, Cafe-au-lait spot |
OMIM:619719 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor |
ORPHA:276556 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Pallor |
OMIM:615631 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent skin infections, Rhinitis, Pyoderma gangrenosum, Pneumonia |
ORPHA:486 |
| Ck Syndrome |
|
Lumbar hyperlordosis, Slender build, Kyphoscoliosis |
ORPHA:251383 |
| Blau Syndrome |
|
Cataract, Eczema, Band keratopathy, Erythema nodosum, Intermittent generalized erythematous papul... |
OMIM:186580 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Cataract, Abnormal eyelash morphology, Abnormal hair morphology, Subcutaneous nodul... |
ORPHA:2526 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Kyphosis, Dyspnea, Resp... |
OMIM:211530 |
| Chronic Graft Versus Host Disease |
|
Alopecia, Dyspnea, Wheezing, Erythema, Pneumothorax, Intermittent generalized erythematous papula... |
ORPHA:99921 |
| Alagille Syndrome |
|
Keratoconus, Failure to thrive, Corneal dystrophy, Abnormal pupil morphology, Abnormal form of th... |
ORPHA:52 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Dyspnea, Pulmonary arterial hypertension, Skin ulcer |
ORPHA:220393 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
| Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis |
OMIM:610313 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive |
OMIM:237310 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Death in infancy, Cataract, Corneal opacity, Kyphosis, Abnormal pupil morpholo... |
ORPHA:534 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor |
ORPHA:276580 |
| Dermatomyositis |
|
Abnormal hair quantity, Aplasia/Hypoplasia of the skin, Pruritus, Erythema, Skin ulcer, Respirato... |
ORPHA:221 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Odontochondrodysplasia |
|
Respiratory distress, Death in infancy, Platyspondyly, Scoliosis |
ORPHA:166272 |
| Catastrophic Antiphospholipid Syndrome |
|
Pulmonary arterial hypertension, Miscarriage, Skin ulcer, Pulmonary embolism |
ORPHA:464343 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
| Leprosy |
|
Urticarial plaque, Hypopigmented macule, Absent eyebrow, Alopecia, Epistaxis, Skin nodule, Loss o... |
ORPHA:548 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Highly arched eyebrow, Cutis laxa, Long eyelashes, ... |
OMIM:619451 |
| Systemic Sclerosis |
|
Alopecia, Recurrent skin infections, Cutaneous sclerotic plaque, Digital pitting scar, Dyspnea, P... |
ORPHA:90291 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... |
ORPHA:254864 |
| Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Failure to thrive, Tachypnea, Abnormal posturing |
OMIM:614857 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Inflammatory abnormalit... |
ORPHA:95455 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Thoracic scoliosis, Hyperlordosis |
ORPHA:62 |
| Gapo Syndrome |
|
Keratoconus, Alopecia, Epidermoid cyst, Redundant skin, Sparse eyelashes, Sparse eyebrow, Wide an... |
OMIM:230740 |
| Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Reduced vital capacity, Scoliosis, Hyperlordosis |
OMIM:617760 |
| Dominant Beta-Thalassemia |
|
Dyspnea, Failure to thrive in infancy, Pallor, Skin ulcer |
ORPHA:231226 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Failure to thrive, Death in childhood |
OMIM:615597 |
| Rodrigues Blindness |
|
Sclerocornea, Nasal flaring, Fine hair, Microcornea, Sparse hair |
OMIM:268320 |
| Hb Bart'S Hydrops Fetalis |
|
Pallor |
ORPHA:163596 |
| Pachyonychia Congenita |
|
Respiratory distress, Alopecia, Epidermoid cyst, Nail dystrophy, Eruptive vellus hair cyst, Cutan... |
ORPHA:2309 |
| Myopathy, Centronuclear, 2 |
|
Respiratory insufficiency due to muscle weakness, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:255200 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis, Opacification of... |
OMIM:313400 |
| Hypochondroplasia |
|
Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:429 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Stridor, Cough |
ORPHA:142 |
| Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
| Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Acne, Pustule, Skin nodule, Pyoderma gangrenosum, E... |
ORPHA:3243 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Lumbar hyperlordosis, Cataract, Cervical kyphosis, Kyphoscoliosis, Short neck, Microcornea, Coron... |
OMIM:255800 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic kyphosis |
ORPHA:206546 |
| Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Apnea, Hyperlordosis, Short neck, Kyphosis, Scoliosis, High anteri... |
OMIM:314580 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea, Large for gestational age |
ORPHA:45452 |
| Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Restrictive ventilatory... |
OMIM:607155 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Gapo Syndrome |
|
Keratoconus, Skin tags, Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Hypopigmented ... |
ORPHA:2067 |
| Angelman Syndrome |
|
Keratoconus, Obesity, Astigmatism, Inappropriate laughter, Scoliosis, Fair hair, Iris hypopigment... |
ORPHA:72 |
| Three M Syndrome 1 |
|
Neonatal respiratory distress, Small for gestational age, Hyperlordosis, Short neck, Increased ve... |
OMIM:273750 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Epistaxis, Eczema, Keratitis, Dyspnea, Chronic pulmonary obstruction, Skin ulcer, Conj... |
ORPHA:906 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing, Weight loss, Aspiration pneumonia, Cough |
ORPHA:216866 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short neck, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, ... |
ORPHA:1797 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Hemivertebrae, Abnormal form of the vertebral bodies, Respiratory ... |
ORPHA:2759 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Cystic acne, Erythema, Pyoderma gangrenosum, Acne inversa |
OMIM:608068 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Dystrophic fingernails, Dystrophic toenail, Hyperlordosis |
ORPHA:970 |
| Granulomatosis With Polyangiitis |
|
Sinusitis, Skin rash, Epistaxis, Chronic pulmonary obstruction, Skin ulcer, Respiratory insuffici... |
ORPHA:900 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Thick hair, Large for gestational age, Dyspnea, Low anterior hairline, Cuti... |
ORPHA:363705 |
| Cushing Disease |
|
Sparse scalp hair, Acne, Hirsutism, Increased body weight, Skin ulcer, Recurrent cutaneous fungal... |
ORPHA:96253 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Death in infancy, Biconvex vertebral bodies, Coronal cleft vertebrae, Platy... |
OMIM:184260 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hyperlordosis, Restrictive ventilatory defect, Distichiasis, Pallor, Failure to thrive |
OMIM:600462 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Wafer-thin ... |
OMIM:151210 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Small for gestational age |
OMIM:616733 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Abnormality of the ... |
ORPHA:99642 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Skin ulcer |
OMIM:613640 |
| Immunoglobulin A Vasculitis |
|
Macule, Skin rash, Pustule, Erythema, Skin ulcer, Restrictive ventilatory defect, Purpura |
ORPHA:761 |
| Primary Myelofibrosis |
|
Ecchymosis, Pallor, Petechiae, Purpura |
ORPHA:824 |
| King-Denborough Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Thoracic kyphosis, Scoliosis, Failure to thrive |
OMIM:619542 |
| Desbuquois Dysplasia 1 |
|
Neonatal respiratory distress, Hyperlordosis, Short neck, Kyphosis, Developmental glaucoma, Obesi... |
OMIM:251450 |
| Oculoskeletodental Syndrome |
|
Hyperlordosis, Developmental cataract, Abnormality of the frontal hairline, Thoracic kyphosis, Sc... |
ORPHA:557003 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing |
OMIM:304700 |
| Nail-Patella Syndrome |
|
Keratoconus, Back pain, Cataract, Lumbar hyperlordosis, Antecubital pterygium, Microcornea, Micro... |
OMIM:161200 |
| Congenital Heart Block |
|
Pallor |
ORPHA:60041 |
| Familial Keratoacanthoma |
|
Papule, Subcutaneous nodule, Skin ulcer |
ORPHA:493 |
| Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Hyperlordosis, Scoliosis, Shagreen patch |
ORPHA:2511 |
| Arterial Tortuosity Syndrome |
|
Keratoconus, Respiratory distress, Redundant skin, Dyspnea, Cardiorespiratory arrest, Keratoglobu... |
ORPHA:3342 |
| Mucopolysaccharidosis, Type Ivb |
|
Corneal opacity, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kypho... |
OMIM:253010 |
| Gm1 Gangliosidosis |
|
Corneal opacity, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Weight loss, Pla... |
ORPHA:354 |
| Acrocapitofemoral Dysplasia |
|
Ovoid vertebral bodies, Scoliosis, Hyperlordosis |
ORPHA:63446 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar hyperlordosis, Small for gestational age, Overweight, Synophrys, Low anterior hairline, As... |
OMIM:617796 |
| Kniest Dysplasia |
|
Respiratory distress, Cataract, Short neck, Coronal cleft vertebrae, Platyspondyly, Lumbar kyphos... |
OMIM:156550 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Respiratory insufficiency, Scoliosis, Hyperlordosis |
OMIM:613156 |
| Myopathy, Distal, 1 |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:160500 |
| Beta-Thalassemia Major |
|
Dyspnea, Failure to thrive in infancy, Pallor, Skin ulcer |
ORPHA:231214 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Nail dystrophy, Corneal pterygium, Symblepharon, Skin ulcer |
OMIM:245660 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormality of the vertebral column, Cataract, Weakness of muscles of respiration, Hyperlordosis |
ORPHA:52430 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424019 |
| Huntington Disease-Like 1 |
|
Abnormal posturing, Weight loss |
ORPHA:157941 |
| Blau Syndrome |
|
Cataract, Skin rash, Keratitis, Dyspnea, Erythema nodosum, Erythema, Skin ulcer, Pulmonary arteri... |
ORPHA:90340 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the... |
OMIM:183900 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency, Kyphoscoliosis |
ORPHA:1145 |
| Beta-Thalassemia Intermedia |
|
Pulmonary arterial hypertension, Pallor, Skin ulcer |
ORPHA:231222 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Abnormal posturing, Scoliosis, Hyperlordosis |
OMIM:128100 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor |
OMIM:611590 |
| Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
| Leber Congenital Amaurosis 9 |
|
Keratoconus |
OMIM:608553 |
| Myotonic Dystrophy 1 |
|
Respiratory distress, Cataract, Frontal balding |
OMIM:160900 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:618167 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Acral ulceration |
OMIM:613115 |
| Generalized Eruptive Keratoacanthoma |
|
Pruritus, Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Papule |
ORPHA:411777 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Keratoconus, Kyphoscoliosis, Recurrent pneumonia, Respiratory insufficiency, Microcornea, Excessi... |
OMIM:225400 |
| Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia |
ORPHA:596 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu... |
ORPHA:2414 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Myopic astigmatism, Synophrys, Obesity, Scolios... |
OMIM:618443 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Spinal rigidity, Hyperlordosis |
ORPHA:267 |
| Episodic Ataxia Type 1 |
|
Respiratory distress, Kyphoscoliosis, Scoliosis |
ORPHA:37612 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Dyspnea, Lumbar hyperlordosis |
ORPHA:435387 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Congenital kyphoscoliosis, Ovoid vertebral bodies, Kyphoscoliosis, Repeated... |
ORPHA:536467 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Corneal opacity, Cachexia, Skin ulcer, Pulmonary arterial hyper... |
ORPHA:2072 |
| Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Aplasia/Hypoplasia of the skin, Failure to thrive, Abnormal hai... |
ORPHA:79474 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
| Thoracomelic Dysplasia |
|
Hyperlordosis, Low posterior hairline, Short neck |
ORPHA:1803 |
| Nasolacrimal Duct Cyst |
|
Intercostal retractions, Chronic irritative conjunctivitis, Corneal astigmatism, Episodic respira... |
ORPHA:141083 |
| Hereditary Spherocytosis |
|
Maculopapular exanthema, Pallor, Skin ulcer |
ORPHA:822 |
| Primary Sjögren Syndrome |
|
Lymphocytic interstitial pneumonia, Erythema nodosum, Nonproductive cough, Skin ulcer, Airway obs... |
ORPHA:289390 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Failure to thrive |
OMIM:608799 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress, Sparse scalp hair, Shoulder dimple, Keratitis, Decreased body weight, Sever... |
ORPHA:1051 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Pallor |
OMIM:615234 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Lumbar hyperlordosis, Spinal rigidity |
OMIM:609308 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Hyperlordosis |
OMIM:618129 |
| Myotonia Permanens |
|
Dyspnea, Asthma, Hyperlordosis |
ORPHA:99735 |
| Three M Syndrome 3 |
|
Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Decreased body ... |
OMIM:614205 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Respiratory insufficiency due to... |
ORPHA:98863 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Wide anterior fontanel, Spinal canal stenosis, Obesity, Hypoxemia... |
ORPHA:15 |
| Chime Syndrome |
|
Corneal opacity, Erythema, Skin ulcer, Fine hair, Sparse hair |
ORPHA:3474 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
| Typical Nemaline Myopathy |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Respiratory insufficiency, Scoliosis, Noctu... |
ORPHA:171436 |
| Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
| Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Eunuchoid habitus, Kyphoscoliosis |
ORPHA:98805 |
| Warburg-Cinotti Syndrome |
|
Symblepharon, Erythema, Pneumothorax, Limbal stem cell deficiency, Thin skin, Decreased corneal t... |
OMIM:618175 |
| Tetrasomy 5P |
|
Preauricular pit, Respiratory distress, Redundant neck skin, Short neck, Wide anterior fontanel, ... |
ORPHA:3309 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus |
ORPHA:401777 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Urticarial plaque, Skin rash, Eczema, Erythema nodosum, Skin ulcer, Recurrent sinusitis, Purpura |
OMIM:615688 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration |
OMIM:620011 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Failure to thrive |
ORPHA:79312 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Failure to thrive, Low anterior hairline, Scoliosis |
ORPHA:329178 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
| Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Stt3B-Cdg |
|
Respiratory distress, Failure to thrive |
ORPHA:370924 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor |
ORPHA:3226 |
| Schwartz-Jampel Syndrome |
|
Apnea, Short neck, Low anterior hairline, Microcornea, Generalized hirsutism, Death in infancy, A... |
ORPHA:800 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Hyperlordosis, Kyphosis, Respiratory insufficiency, Stridor, Scoliosis |
OMIM:181405 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scoliosis, Hyperlordosis |
OMIM:616228 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Dry skin, Large for gestational age |
ORPHA:226313 |
| Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Opacification of the corneal stroma, Spina bifida occulta, Iris ... |
OMIM:169550 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Respiratory insufficiency, Scoliosis, Hyperlordosis |
OMIM:620285 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Neonatal death, Wide anterior fontanel, Respiratory distress, Developmental cataract |
OMIM:231680 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Lumbar hyperlordosis, Thoracic kyphosis |
OMIM:619467 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory insufficiency due to muscle weak... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Respiratory insufficiency due to muscle weak... |
ORPHA:98853 |
| Plague |
|
Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Localized skin lesion, Skin ulcer... |
ORPHA:707 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Lumbar hyperlordosis |
OMIM:167320 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hyperlordosis |
ORPHA:1192 |
| Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... |
OMIM:608022 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Isolated Atp Synthase Deficiency |
|
Respiratory distress, Cataract |
ORPHA:254913 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Kyphosi... |
OMIM:615512 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Restrictive ventilatory defect, Cataract, Hyperlordosis |
ORPHA:369840 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Death in infancy, Respiratory distress |
OMIM:300219 |
| Farber Disease |
|
Respiratory distress, Corneal opacity, Respiratory insufficiency, Abnormal conjunctiva morphology... |
ORPHA:333 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Failure to thrive, Corneal scarring, Acral ulceration, Recurrent corneal er... |
OMIM:256810 |
| Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Corneal opacity, Hypermelanotic macule, Ovoid vertebral bodies, Short neck,... |
ORPHA:1830 |
| Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... |
ORPHA:750 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Generalized hypertrichosis, Failure to thrive, Short neck |
ORPHA:50810 |
| Mucopolysaccharidosis Type 4 |
|
Corneal opacity, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoli... |
ORPHA:582 |
| Microphthalmia, Lenz Type |
|
Cataract, Hyperlordosis, Kyphosis, Microcornea, Scoliosis, Preauricular skin tag, Iris coloboma |
ORPHA:568 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration |
OMIM:604377 |
| Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Cataract, Sparse eyelashes, Small for gestational age, Tracheomalacia, Hyperlo... |
OMIM:234100 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Sacral dimple, Cataract, Astigmatism, Scoliosis, Unilateral breast hypoplas... |
OMIM:300968 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Thick eyebrow, Scoliosis, Facial hirsutism |
OMIM:619383 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Lumbar hyperlordosis |
OMIM:613818 |
| Congenital Myopathy 10B, Mild Variant |
|
Hyperlordosis, Reduced forced vital capacity, Recurrent pneumonia, Respiratory failure, Scoliosis |
OMIM:620249 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis |
OMIM:613723 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive |
ORPHA:927 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Short neck, Upper airway obstruction, Platyspondyly, Squared-off platyspondyly, Sc... |
ORPHA:93352 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... |
OMIM:184100 |
| Nipah Virus Disease |
|
Respiratory distress, Cough |
ORPHA:99825 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Vertebral wedging,... |
ORPHA:1159 |
| Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Restrictive ven... |
OMIM:310200 |
| Vernal Keratoconjunctivitis |
|
Pruritus, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate keratitis, Cornea... |
ORPHA:70476 |
| Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Tuft... |
ORPHA:573278 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-C2 subluxation |
OMIM:184250 |
| Arterial Tortuosity Syndrome |
|
Keratoconus, Cutis laxa, Astigmatism, Thin skin, Scoliosis |
OMIM:208050 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae |
ORPHA:313892 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Failure to thrive |
OMIM:212140 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop... |
ORPHA:93284 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Decreased body weight, Neonatal death, Petechiae, Purpura |
OMIM:608013 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck |
ORPHA:2522 |
| Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia, Scoliosis, Hyperlordosis |
OMIM:253700 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Inflammatory abnormality of the skin, Small for gestational age, Pneumonia,... |
ORPHA:26793 |
| Fucosidosis |
|
Cervical platyspondyly, Thick eyebrow, Lumbar hyperlordosis, Failure to thrive, Ovoid vertebral b... |
OMIM:230000 |
| Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Lumbar hyperlordosis |
OMIM:609325 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis |
ORPHA:156728 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Obesity, Scoliosis |
ORPHA:98855 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Eczema, Abse... |
OMIM:305100 |
| Idiopathic Pulmonary Hemosiderosis |
|
Pallor |
ORPHA:99931 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair, Failure to thrive, Scoliosis, Hyperlordosis |
OMIM:300986 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
| Achondroplasia |
|
Respiratory distress, Death in infancy, Lumbar hyperlordosis, Upper airway obstruction, Lumbar ky... |
OMIM:100800 |
| Congenital Tracheomalacia |
|
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... |
ORPHA:95430 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Hypopigmentation of hair, Short neck, Obesity, Abnormal social behavior, Sc... |
ORPHA:177907 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Alopecia, Failure to thrive, Recurrent skin infections, Pneumonia, Skin ero... |
ORPHA:79404 |
| American Trypanosomiasis |
|
Pallor |
ORPHA:3386 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Neonatal respiratory distress, Hyperlordosis, Coronal cleft vertebrae, Scoliosis, Butterfly verte... |
OMIM:618870 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Failure to thrive in infancy, Skin rash, Pustule, Fused cervical vertebrae |
OMIM:612852 |
| Myopathy, Centronuclear, 1 |
|
Hyperlordosis |
OMIM:160150 |
| Coccidioidomycosis |
|
Urticarial plaque, Respiratory distress, Skin rash, Pneumonia, Indurated nodule, Morbilliform ras... |
ORPHA:228123 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Short neck, Synophrys, Recurrent pneumonia, Low anterior hairline, Low post... |
OMIM:617303 |
| Frontorhiny |
|
Lumbar hyperlordosis, Cataract, Widow's peak, Dermoid cyst, Scoliosis, Preauricular skin tag, Iri... |
ORPHA:391474 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
| Parkes Weber Syndrome |
|
Back pain, Skin ulcer, Erythematous plaque, Capillary malformation, Scaling skin |
ORPHA:90307 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Lumbar hyperlordosis |
OMIM:165800 |
| Lateral Meningocele Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Low posterior hairlin... |
ORPHA:2789 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
| Fanconi Anemia, Complementation Group I |
|
Pallor |
OMIM:609053 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... |
OMIM:220110 |
| Myopathy, Scapulohumeroperoneal |
|
Scoliosis, Hyperlordosis |
OMIM:616852 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress |
ORPHA:89844 |
| Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
| Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
| Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Keratitis, Nonproductive cough, Dyspnea, Subcu... |
ORPHA:31204 |
| Tetanus |
|
Respiratory distress, Localized skin lesion, Tachypnea |
ORPHA:3299 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Failure to thrive |
OMIM:618201 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Alopecia, Psoriasiform dermatitis, Failure to thrive in infancy, Pneumonia,... |
ORPHA:37042 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Lumbar hyperlordosis, Megalocornea, Cataract, Abnormality iris morphology |
ORPHA:370959 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Small for gestational age, Recurrent pneumonia, Failure to thrive, Butterfl... |
OMIM:607143 |
| 3Mc Syndrome |
|
Highly arched eyebrow, Hyperlordosis, Supernumerary nipple, Spina bifida occulta, Prominent coccy... |
ORPHA:293843 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... |
ORPHA:98915 |
| Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Low back pain, Acral ulceration |
OMIM:608654 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... |
ORPHA:94068 |
| Facioscapulohumeral Dystrophy |
|
Abnormal eyelash morphology, Hyperlordosis |
ORPHA:269 |
| Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Lumbar hyperlordosis, Thick hair, Short neck, Airway obstruction, Lumbar ky... |
ORPHA:505248 |
| Moebius Syndrome |
|
Respiratory distress, Short neck |
OMIM:157900 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Lumbar hyperlordosis, Hyperlordosis, Synophrys, Obesity, Astigmatism, Nevus flammeus, Hirsutism |
OMIM:616078 |
