Rheumatoid Nodulosis |
|
Subcutaneous nodule |
OMIM:180350 |
Milia, Multiple Eruptive |
|
Milia |
OMIM:157400 |
Nevus Comedonicus |
|
Nevus comedonicus |
OMIM:617025 |
Elastosis Perforans Serpiginosa |
|
Nevus |
OMIM:130100 |
Capillary Malformations, Congenital |
|
Nevus flammeus |
OMIM:163000 |
Nevus Flammeus Of Nape Of Neck |
|
Nevus flammeus nuchae |
OMIM:163100 |
Knuckle Pads |
|
Subcutaneous nodule |
OMIM:149100 |
Dyschromatosis Universalis Hereditaria 3 |
|
Hypopigmented macule, Hypermelanotic macule |
OMIM:615402 |
Nevus, Epidermal |
|
Numerous nevi, Melanocytic nevus |
OMIM:162900 |
Syringocystadenoma Papilliferum |
|
Subcutaneous nodule, Nevus sebaceous, Papule |
ORPHA:840 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Urticarial plaque, Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythem... |
ORPHA:64745 |
Darier Disease |
|
Macule, Hypermelanotic macule, Acrokeratosis, Pruritus, Plantar pits, Subungual hyperkeratotic fr... |
ORPHA:218 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Abnormal oral mucosa morphology, Acantholysis, Pruritus, Pustule, Crusti... |
ORPHA:79481 |
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Aplasia cutis congenita, Congenital absence of skin of limbs |
OMIM:600360 |
Aplasia Cutis Congenita, Nonsyndromic |
|
Aplasia cutis congenita over the scalp vertex |
OMIM:107600 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Skin erosion, Erythema |
ORPHA:2841 |
Pemphigoid Gestationis |
|
Skin vesicle |
ORPHA:63275 |
Erythema Elevatum Diutinum |
|
Skin vesicle, Skin nodule |
ORPHA:90000 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Acantholysis, Pruritus, Pustule, Oral mucosal blisters, Ul... |
ORPHA:555905 |
Dowling-Degos Disease |
|
Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Pruritus, Palmar pits, Digital pitt... |
ORPHA:79145 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Oral mucosal blisters, Pruritus, Carious teeth, Localized skin lesion, Skin erosion, Gastrointest... |
ORPHA:79410 |
Lichen Planus Pemphigoides |
|
Pruritus, Hyperkeratosis, Abnormal oral mucosa morphology, Skin vesicle |
ORPHA:254478 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Oral mucosal blisters, Pruritus, Palmoplantar hyperkeratosis, Erythema migrans, Sk... |
ORPHA:158681 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Death in infancy, Villous atrophy, Dehydration, Protracted diarrhea, Abnormal intestine morphology |
OMIM:251850 |
Dermatitis Herpetiformis |
|
Macule, Eczema, Edema, Malabsorption, Pruritus, Erythema, Skin vesicle |
ORPHA:1656 |
Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis, Skin nodule, Verrucous papule |
ORPHA:139414 |
Pierre Robin Syndrome |
|
Neonatal respiratory distress, Pierre-Robin sequence, Upper airway obstruction, Cleft palate, Glo... |
OMIM:261800 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Dyspnea, Cheilitis... |
ORPHA:293173 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration |
OMIM:223000 |
Warty Dyskeratoma |
|
Abnormality of the alveolar ridges, Acrokeratosis, Acantholysis, Umbilicated nodule, Skin-colored... |
ORPHA:69745 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Neonatal respiratory distress, Upper airway obstruction, Cleft palate |
ORPHA:718 |
Wells Syndrome |
|
Pruritus, Skin vesicle, Edema |
ORPHA:901 |
Pemphigus Erythematosus |
|
Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Oral ulcer, Hypopigmented s... |
ORPHA:79480 |
Darier-White Disease |
|
Hypermelanotic macule, Acrokeratosis, Acantholysis, Pruritus, Palmar pits, Plantar pits, Enlargem... |
OMIM:124200 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Hypermelanotic macule, Abnormality of the dentition, Pruritus, Oral mucos... |
ORPHA:79399 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Striae distensae |
OMIM:178995 |
Striae Distensae, Familial |
|
Striae distensae |
OMIM:185200 |
Pyoderma Gangrenosum |
|
Skin vesicle, Atrophic scars, Papule, Skin ulcer |
ORPHA:48104 |
Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Aplasia/Hypoplasia of the skin |
ORPHA:735 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule |
ORPHA:257 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Skin rash, Eczema, Abnormality of the dentition, Pruritus, Cleft palat... |
ORPHA:2314 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Tongue fasciculations, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
Proliferating Trichilemmal Cyst |
|
Epidermoid cyst, Skin ulcer |
ORPHA:492 |
Chronic Hiccup |
|
Dehydration, Abnormal eating behavior |
ORPHA:396 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Angular cheilitis, Follicular hyperkeratosis |
OMIM:613102 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Hyper... |
OMIM:616295 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Pustule, Secretory diarrhea, Dehydration, Vomiting, Papule |
OMIM:616069 |
Pemphigus Vulgaris |
|
Atypical scarring of skin, Recurrent cutaneous abscess formation, Abnormal oral cavity morphology... |
ORPHA:704 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Tongue fasciculations, Respiratory insufficiency, Death in childhood |
OMIM:616081 |
Reticular Dysgenesis |
|
Skin rash, Malabsorption, Diarrhea, Dehydration, Skin ulcer |
ORPHA:33355 |
Melkersson-Rosenthal Syndrome |
|
Facial edema, Furrowed tongue |
OMIM:155900 |
Superficial Epidermolytic Ichthyosis |
|
Erythema, Palmoplantar keratoderma, Thin skin, Acantholysis |
ORPHA:455 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Dehydration,... |
OMIM:615237 |
Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Vomiting, Dehydration |
OMIM:610370 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Alpha-Methylacetoacetic Aciduria |
|
Vomiting, Dehydration |
OMIM:203750 |
Lipoid Proteinosis |
|
Acne, Abnormal oral mucosa morphology, Pustule, Abnormality of the gingiva, Thick lower lip vermi... |
ORPHA:530 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Cleft palate, Respiratory insufficiency, Restrictive ventilatory defect, Re... |
OMIM:614399 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Hennekam-Beemer Syndrome |
|
Macule, Pneumonia, Pruritus, Thick lower lip vermilion, Subcutaneous nodule, Erythema, Respirator... |
ORPHA:2135 |
Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Vomiting, Dehydration |
OMIM:614265 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Esophageal stricture, Crusting erythematous dermatitis, Erythema, Palmoplantar hyperkeratosis, Er... |
ORPHA:158673 |
Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence |
OMIM:300717 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer, Papule |
ORPHA:2337 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations, Respiratory failure, Dysphagia |
OMIM:613435 |
Familial Cold Urticaria |
|
Pruritus, Polydipsia, Erythema, Dehydration |
ORPHA:47045 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respiratory failure, M... |
ORPHA:1832 |
Dyskeratosis Congenita |
|
Macule, Esophageal stenosis, Aplasia/Hypoplasia of the skin, Hypermelanotic macule, Malabsorption... |
ORPHA:1775 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth, Aplasia cutis congenita, Acantholysis, Neonatal death, Skin erosion |
OMIM:609638 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis, Atrophic scars |
OMIM:131850 |
Enteric Anendocrinosis |
|
Diarrhea, Vomiting, Dehydration, Malabsorption |
ORPHA:83620 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Acne, Pustule, Skin nodule, Pyoderma gangrenosum, I... |
ORPHA:3243 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Acantholysis, Skin-colored papule, Punctate palmoplantar hyperkeratosis, Hyperkera... |
ORPHA:79151 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Cleft palate, Aspiration pneumonia, Micr... |
ORPHA:141152 |
Lamellar Ichthyosis |
|
Pruritus, Lack of skin elasticity, Dehydration, Hyperkeratosis, Erythroderma, Dry skin |
ORPHA:313 |
Porphyria Variegata |
|
Localized skin lesion, Ileus, Milia, Constipation, Hepatocellular carcinoma, Skin vesicle, Skin e... |
ORPHA:79473 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Respiratory failure, Aspi... |
ORPHA:90117 |
Congenital Myopathy 14 |
|
Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Respiratory failure, H... |
OMIM:618414 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Erythematous pl... |
OMIM:618531 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:311895 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin |
OMIM:617571 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Central Diabetes Insipidus |
|
Diarrhea, Polydipsia, Anorexia, Dehydration |
ORPHA:178029 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Esophageal stenosis, Oral mucosal blisters, Congenital... |
OMIM:619817 |
Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure, Dysphagia |
OMIM:615348 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Vomiting, Dehydration |
ORPHA:79159 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Diarrhea, Dehydration, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... |
OMIM:615508 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure, Tongue fasciculations |
OMIM:600561 |
Hyperkeratosis Lenticularis Perstans |
|
Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer, Papule |
ORPHA:409 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Acantholysis, Palmoplantar hyperkeratosis, Death in adolescence, Tooth ... |
OMIM:605676 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
Lichen Planopilaris |
|
Pruritus, Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Abnormal intestine morphology, ... |
ORPHA:525 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, High palate, Neonatal death |
OMIM:611890 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... |
ORPHA:411696 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Esophageal stricture, Asthma, Hyperkeratosis, Palmoplantar keratoderma... |
OMIM:616029 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Palmoplantar keratoderma, Erythroderma, Abno... |
ORPHA:2897 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Vomiting, Dehydration |
OMIM:602199 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Dehydration, Dysphagia |
OMIM:618958 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure, Dysphagia |
OMIM:225753 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Gastrointestinal dysmotility, Respiratory failure, Dysphagia |
OMIM:618637 |
Harlequin Ichthyosis |
|
Hyperkeratosis, Self-injurious behavior, Dehydration, Erythroderma |
ORPHA:457 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Cataract, Death in infancy |
OMIM:614876 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Skin nodule, Respiratory failure, Dysphagia, Re... |
ORPHA:2590 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Pustule, Erythema, Furrowed tongue, Geographic tongue |
OMIM:614204 |
Combined Malonic And Methylmalonic Acidemia |
|
Intermittent diarrhea, Vomiting, Dehydration |
ORPHA:289504 |
Chikungunya |
|
Macule, Maculopapular exanthema, Skin rash, Pruritus, Erythema nodosum, Diarrhea, Crusting erythe... |
ORPHA:324625 |
Microvillus Inclusion Disease |
|
Villous atrophy, Pruritus, Diarrhea, Dehydration, Abnormal small intestinal villus morphology |
ORPHA:2290 |
Hyperekplexia 4 |
|
Respiratory failure, High palate |
OMIM:618011 |
Solar Urticaria |
|
Pruritus, Dyspnea, Abnormal tongue morphology, Wheezing, Abnormal lip morphology |
ORPHA:97230 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea, Dental crowding, Narrow mouth, Mandibular condyle aplasia, Dental ma... |
OMIM:614669 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Chronic Graft Versus Host Disease |
|
Cough, Dyspnea, Esophageal stricture, Pneumothorax, Xerostomia, Bronchiectasis, Wheezing, Intermi... |
ORPHA:99921 |
Vulvovaginal Gingival Syndrome |
|
Parakeratosis, Pruritus, Erythema, Oral ulcer, Gingivitis, Skin erosion |
ORPHA:83453 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Autosomal Agammaglobulinemia |
|
Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Dehydration, High palate |
ORPHA:33110 |
Leukocyte Adhesion Deficiency Type Ii |
|
Severe periodontitis, Protruding tongue, Deep philtrum, Recurrent pneumonia, Gingival overgrowth,... |
ORPHA:99843 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Cataract, Corneal dystrophy, Gingival overgrowth, Tracheoesophageal fistula, Furrowed t... |
ORPHA:1839 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Abnormality of the tongue muscle, Respiratory failure, Respiratory insufficiency |
ORPHA:370968 |
Netherton Syndrome |
|
Skin rash, Eczema, Malabsorption, Dehydration, Erythroderma, Dry skin |
ORPHA:634 |
Glucose/Galactose Malabsorption |
|
Chronic diarrhea, Hypertonic dehydration, Malabsorption |
OMIM:606824 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
Scedosporiosis |
|
Unusual skin infection, Bronchial breath sound, Sinusitis, Pneumonia, Subcutaneous nodule, Abnorm... |
ORPHA:449280 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Respiratory distress, Macule, Acantholysis, Intestinal perforation, ... |
ORPHA:537 |
Mulibrey Nanism |
|
Wide nose, Depressed nasal bridge, Corneal dystrophy, Dental crowding, Enamel hypoplasia, Dental ... |
OMIM:253250 |
Transient Neonatal Diabetes Mellitus |
|
Macroglossia, Dehydration |
ORPHA:99886 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Gingival overgrowth, Narrow palate, Respiratory insufficiency, Respiratory failure, Gastroesophag... |
OMIM:618186 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Narrow mouth, Cheilitis, Esophageal web, Pallor, Dy... |
ORPHA:54028 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Intermediate Nemaline Myopathy |
|
High, narrow palate, Respiratory failure, Long philtrum, Dysphagia |
ORPHA:171433 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Alopecia, Cataract, Malabsorption, Lymphedema, Hypogeusia, Furrowed tongue,... |
ORPHA:2930 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Diarrhea, Dehydration, Death in adolescence, Vomiting, Death in childhood |
OMIM:560000 |
Boutonneuse Fever |
|
Macule, Skin rash, Maculopapular exanthema, Skin nodule, Respiratory failure, Skin detachment, Pe... |
ORPHA:83313 |
Cystinosis |
|
Malabsorption, Dehydration, Vomiting, Polydipsia, Abnormal repetitive mannerisms |
ORPHA:213 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Snakebite Envenomation |
|
Epistaxis, Localized skin lesion, Erythema, Neuromuscular dysphagia, Pseudobulbar paralysis, Resp... |
ORPHA:449285 |
Vacterl Association With Hydrocephalus |
|
Respiratory failure, Stillbirth, Respiratory insufficiency, Anal atresia |
OMIM:276950 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, High, narrow palate, Dyspnea, Wide mouth, Abnormal upper lip morphology, Re... |
ORPHA:2707 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Dyspnea, Res... |
ORPHA:2759 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:245400 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Recurrent skin infections, Anal fissure, Nevus, Carious teeth, Narrow mouth,... |
ORPHA:89842 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:28 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anorexia, Dehydration |
ORPHA:79312 |
Beta-Ketothiolase Deficiency |
|
Anorexia, Edema, Diarrhea, Dehydration, Agitation, Vomiting, Pallor, Oral aversion |
ORPHA:134 |
Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Cleft palate, Abnormality of the dentition |
ORPHA:3104 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Respiratory failure, Cleft palate, Acantholysis |
ORPHA:158687 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Gastroesophageal reflux, Dehydration |
OMIM:251120 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... |
ORPHA:2302 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Respiratory failure, Death in childhood |
OMIM:619334 |
Netherton Syndrome |
|
Hypernatremic dehydration, Villous atrophy, Parakeratosis, Recurrent skin infections, Eczema, Ang... |
OMIM:256500 |
Aspergillosis |
|
Chronic lung disease, Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnor... |
ORPHA:1163 |
Myasthenic Syndrome, Congenital, 10 |
|
Respiratory insufficiency due to muscle weakness, Tongue atrophy, Reduced vital capacity |
OMIM:254300 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Cataract, Depressed nasal bridge, Furrowed tongue, Low posterior hairline, High palate, Short phi... |
ORPHA:1387 |
Orofaciodigital Syndrome Xv |
|
Anteverted nares, Wide nasal bridge, Midline notch of upper alveolar ridge, Lobulated tongue, Hyd... |
OMIM:617127 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Dehydration, Death in childhood |
OMIM:214150 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Macule, Acantholysis, Dyspnea, Esophageal stricture, Erythema, Dysph... |
ORPHA:36426 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Esophageal stricture, Atrophic scars, Constipation, Dysphagia... |
OMIM:226600 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascites, Death in adolescence, Hyper... |
OMIM:620014 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Esophageal stricture, Localized skin lesion, Gastrointestin... |
ORPHA:79409 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Death in infancy, Aplasia cutis congenita on trunk or limbs, Polyhydramnios, Esophageal atresia, ... |
OMIM:226730 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Anorexia, Malabsorption, Chronic diarrhea, Erythema, Hydrops fetalis, Dehydratio... |
OMIM:557000 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Corneal scarring, Furrowed tongue, Absen... |
OMIM:148210 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, High palate, Respiratory insufficiency |
OMIM:615330 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata, Edema |
OMIM:610158 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, High pala... |
ORPHA:98913 |
Hypercalcemia, Infantile, 1 |
|
Vomiting, Dehydration |
OMIM:143880 |
Isovaleric Acidemia |
|
Vomiting, Dehydration |
OMIM:243500 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Vomiting, Dehydration |
OMIM:602722 |
Catel-Manzke Syndrome |
|
Highly arched eyebrow, Glossoptosis, Oral synechia, Cleft palate |
ORPHA:1388 |
Tylosis With Esophageal Cancer |
|
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos... |
OMIM:148500 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... |
OMIM:608647 |
Propionic Acidemia |
|
Constipation, Vomiting, Eczema, Dehydration |
OMIM:606054 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Diarrhea, Vomiting, Dehydration |
OMIM:264350 |
Auriculocondylar Syndrome 1 |
|
Apnea, Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterio... |
OMIM:602483 |
Lymphangiectasia, Intestinal |
|
Edema, Malabsorption, Abnormal hair morphology, Pedal edema, Stillbirth, Intestinal lymphangiectasia |
OMIM:152800 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Macroglossia, Respiratory failure, Restrictive ventilatory defect, Dysphagia |
OMIM:606612 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Underdeveloped nasal alae, Wide nasal bridg... |
ORPHA:3241 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
Carnitine Deficiency, Systemic Primary |
|
Diarrhea, Vomiting, Dehydration |
OMIM:212140 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... |
OMIM:265120 |
Shigellosis |
|
Anorexia, Intestinal perforation, Peritonitis, Ulcerative colitis, Bloody diarrhea, Paralytic ile... |
ORPHA:810 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure, Dysphagia |
OMIM:616867 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Petechiae, Purpura |
OMIM:620296 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Bazex-Dupre-Christol Syndrome |
|
Eczema, Atopic dermatitis, Furrowed tongue, Nevus, Milia, Acne inversa |
OMIM:301845 |
Whistling Face Syndrome, Recessive Form |
|
Prominent nasal bridge, Underdeveloped nasal alae, Whistling appearance, High palate, Narrow mout... |
OMIM:277720 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Long philtrum, Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Pruritus, Secretor... |
OMIM:619377 |
Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure, Tongue fasciculations, Congenital laryngeal stridor |
ORPHA:2254 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Respiratory failure, Protein-losing enteropathy |
ORPHA:79327 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Underdeveloped nasal alae, Bifid nasal tip, Carious t... |
OMIM:620107 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Abnormal dental morphology, Abnormality of the dentition,... |
ORPHA:158668 |
Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Folli... |
OMIM:615726 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Patchy alopecia, Short ... |
OMIM:141300 |
Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavi... |
ORPHA:2131 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Corneal opacity, Hyperparakeratosis, Periorificial hyper... |
OMIM:614594 |
Pai Syndrome |
|
Nasal polyposis, Depressed nasal bridge, Median cleft lip, Cleft palate, Bifid uvula, Abnormal or... |
ORPHA:1993 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Vomiting, Dehydration |
OMIM:620126 |
Hartnup Disorder |
|
Glossitis, Neutral hyperaminoaciduria |
OMIM:234500 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Pustule, Vomiting, Atopic dermatitis, Dehydration |
ORPHA:171876 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Downturned corners of mouth, ... |
OMIM:613443 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Nasal polyposis, Median cleft lip, High palate, Iris coloboma, Bifid uvula |
OMIM:155145 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hematemesis, Esophageal varix, Dehydration, Neonatal death, Oligohydramnios |
OMIM:263200 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure |
ORPHA:168486 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure |
OMIM:619386 |
Cholesteryl Ester Storage Disease |
|
Pruritus, Diarrhea, Esophageal varix |
ORPHA:75234 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Anteverted nares, Bulbous nose, Pierre-Robin sequence, Wide nasal bridg... |
OMIM:613604 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Bazex Syndrome |
|
Parakeratosis, Edema, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Lip... |
ORPHA:166113 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Vomiting, Dehydration |
OMIM:177735 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Respiratory failure, Stillbirth, Tongue fasciculations, Death in childhood, Neo... |
OMIM:614922 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure, Abnormal palate morphology |
ORPHA:75840 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Gastroesophageal reflux, Dysphagia |
ORPHA:70472 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Corticosterone Methyloxidase Type I Deficiency |
|
Vomiting, Dehydration |
OMIM:203400 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure |
OMIM:618240 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Corneal opacity, Prominent nasal bridge, Exaggerated cupid's bow, Und... |
ORPHA:364577 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Portal Hypertension, Noncirrhotic, 2 |
|
Esophageal varix, Hepatocellular carcinoma, Ecchymosis, Ascites, Petechiae |
OMIM:619463 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Pallor, Cough |
ORPHA:99931 |
Auriculocondylar Syndrome |
|
Respiratory distress, Dental crowding, Hamartoma of tongue, Preauricular skin tag, Narrow mouth, ... |
ORPHA:137888 |
Noonan Syndrome 7 |
|
Numerous nevi, Dysphagia, Thick vermilion border, Webbed neck, Impaired oropharyngeal swallow res... |
OMIM:613706 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Skin tags, Redundant skin, Respiratory failure, Gastroesopha... |
OMIM:616482 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the gastrointestinal tract, Eczema, Premature loss of primary teeth, Abnormality o... |
ORPHA:2907 |
Congenital Myopathy 10B, Mild Variant |
|
Reduced forced vital capacity, Recurrent pneumonia, Cleft palate, Respiratory failure, High palat... |
OMIM:620249 |
Kindler Epidermolysis Bullosa |
|
Aplasia/Hypoplasia of the skin, Recurrent skin infections, Abnormal dental enamel morphology, Pre... |
ORPHA:2908 |
Cholera |
|
Miscarriage, Achlorhydria, Diarrhea, Dehydration, Vomiting, Palmoplantar cutis laxa |
ORPHA:173 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Chronic diarrhea, Esophageal varix, Hyperkeratosis, Inflammation of the large i... |
OMIM:614576 |
Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Carious teeth, Spotty hypopigmentation, Palmoplantar hyperker... |
OMIM:173650 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Constipation, Polydipsia, Vomiting, Hypertonic dehydration |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Constipation, Polydipsia, Vomiting, Hypertonic dehydration |
OMIM:304800 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Restrictive ventilatory defect, Tongue atrophy, Dysphagia |
OMIM:158900 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Wide mouth, Death in infancy, Respiratory failure, Short philtrum |
ORPHA:1194 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Dysphagia |
ORPHA:352447 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation, Dysphagia |
OMIM:618233 |
Odontoonychodermal Dysplasia |
|
Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Short nail, Sparse eyebrow, Palmoplantar hyp... |
OMIM:257980 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Intestinal perforation, Gastrointestinal infarct... |
ORPHA:679 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:27 |
Bronchogenic Cyst |
|
Pneumonia, Abnormal stomach morphology, Dyspnea, Dysphagia, Cough, Abnormal esophagus morphology |
ORPHA:2357 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... |
OMIM:605711 |
Glycogen Storage Disease Iv |
|
Polyhydramnios, Edema, Esophageal varix, Hydrops fetalis, Ascites |
OMIM:232500 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Respiratory failure, Nocturnal hypoventilation |
OMIM:620326 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Intestinal perforation, Diarrhea, Peritonitis, Rectal prolapse, Colonic stenosis, Dehydration, Bl... |
ORPHA:90038 |
Lelis Syndrome |
|
Carious teeth, Yellow nails, Palmoplantar hyperkeratosis, Furrowed tongue, Absent lower eyelashes... |
ORPHA:140936 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction, High palate, Hypodontia, Narrow mouth, Microglossia |
OMIM:612776 |
9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares, Synophrys, Protruding tongue |
DECIPHER:52 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure, Dysphagia |
OMIM:613954 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Secretory diarrhea, Elevated stool chloride content, Dehydration |
OMIM:214700 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Dehydration, Oligohydramnios |
OMIM:208085 |
Early-Onset Familial Hypoaldosteronism |
|
Vomiting, Dehydration |
ORPHA:556030 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy, Dysphagia |
ORPHA:496689 |
Melkersson-Rosenthal Syndrome |
|
Edema, Periorbital edema, Cheilitis, Furrowed tongue, Oligosacchariduria, Macroglossia |
ORPHA:2483 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... |
ORPHA:79126 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Anorexia, Edema, Diarrhea, Dehydration, Pallor, Episodic vomiting |
ORPHA:20 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Inflammatory abnormalit... |
ORPHA:95455 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure, Tented upper lip vermilion, Narrow palate |
OMIM:616505 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Neonatal respiratory distress, Esophageal stenosis, Downturned corners of mouth, Hyperkeratosis, ... |
OMIM:615510 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Hydroureter, Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Wide... |
OMIM:616367 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Intestinal malrotation, Productive cough, Wheezing, Bronchiectasis... |
ORPHA:244 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Neonatal respiratory distress, Respiratory insufficiency, Cleft palate, Congenital laryngeal stri... |
OMIM:618356 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia |
OMIM:616540 |
Vipoma |
|
Anorexia, Malabsorption, Erythema, Secretory diarrhea, Dehydration, Hematochezia, Neoplasm of the... |
ORPHA:97282 |
Ring Chromosome 22 Syndrome |
|
Edema, Protruding tongue, Lymphedema, Bulbous nose, Pleural effusion, Thick vermilion border, Wid... |
ORPHA:1446 |
Lysosomal Acid Lipase Deficiency |
|
Pruritus, Diarrhea, Esophageal varix, Dehydration, Xanthelasma, Vomiting, Xanthomatosis, Steatorr... |
ORPHA:275761 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Median cleft lip, Depressed nasal bridge, Cleft palate, Micropenis, Microglossi... |
OMIM:241800 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Vomiting, Dehydration |
OMIM:251000 |
Agel Amyloidosis |
|
Tongue atrophy, Cataract, Proteinuria, Edema, Xerostomia, Stage 5 chronic kidney disease, Keratoc... |
ORPHA:85448 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean |
OMIM:604320 |
Tibial Muscular Dystrophy |
|
Respiratory failure |
ORPHA:609 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Dehydration |
OMIM:610600 |
Glucose-Galactose Malabsorption |
|
Diarrhea, Vomiting, Dehydration |
ORPHA:35710 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Anteverted nares, Broad nasal tip, Thick lower lip vermilion, P... |
OMIM:300602 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Cataract, Erythematous oral mucosa, Keratoconjunctivitis, Hematuria, Furrowed tongue, C... |
OMIM:158310 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure, High palate, Orofacial cleft |
OMIM:618804 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Cleft palate, Long philtrum |
ORPHA:166100 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Cataract, Depressed nasal bridge, Anteverted nares, Protruding tongue, Low anterior hairline, Gin... |
OMIM:618797 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Dyspnea... |
OMIM:211530 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Sacral dimple, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level |
ORPHA:70578 |
Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Xerostomia, Abnormal respiratory system physiology |
ORPHA:803 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Malabsorption, Recurrent pneumonia, ... |
ORPHA:47 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Nonimmune hydro... |
OMIM:607823 |
Naxos Disease |
|
Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:601214 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation |
OMIM:603689 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Gastroesophageal reflux, Cough, Emphysema, Neonatal respir... |
ORPHA:95430 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Redundant skin, Hiatus hernia, Pyloric stenosis, Dyspnea, Cardiorespiratory... |
ORPHA:3342 |
Acrodermatitis Enteropathica |
|
Malabsorption, Pustule, Erythema, Abnormality of the tongue, Cheilitis, Furrowed tongue, Skin ulc... |
ORPHA:37 |
Immunodeficiency 54 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
Down Syndrome |
|
Cataract, Depressed nasal bridge, Aganglionic megacolon, Protruding tongue, Abnormality of the de... |
ORPHA:870 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Submucous cleft hard palate, Low anterior hairline, Abnormality of the sense... |
ORPHA:3201 |
Fuchs Endothelial Corneal Dystrophy |
|
Corneal opacity, Edema, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morph... |
ORPHA:98974 |
Immunodeficiency 12 |
|
Skin rash, Esophageal stricture, Cheilitis, Bronchiectasis, Death in adolescence, Recurrent aphth... |
OMIM:615468 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure, Dysphagia |
ORPHA:98755 |
Ramos-Arroyo Syndrome |
|
Sparse scalp hair, Anteverted nares, Depressed nasal bridge, Aganglionic megacolon, Keratitis, Ca... |
ORPHA:1051 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy, Dysphagia |
ORPHA:216873 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Vomiting, Dehydration |
OMIM:615453 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Cleft palat... |
ORPHA:1790 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High... |
OMIM:220110 |
Hartnup Disease |
|
Skin rash, Malabsorption, Hypopigmented skin patches, Gingivitis, Glossitis |
ORPHA:2116 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Protruding tongue, Intercostal muscle weakness, Respiratory insufficiency, Macro... |
ORPHA:258 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure, Dysphagia |
OMIM:620166 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Synophrys, Oligodontia, High palate, Exaggerated median tongue furrow... |
OMIM:608670 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Cough, Dyspnea, Abnormal esophagus mor... |
ORPHA:1018 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Scarring alopecia of scalp, Atrophic scars, Palmoplantar keratoderma, Apla... |
ORPHA:79402 |
Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Tongue fasciculations, Respiratory insufficiency |
OMIM:614678 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Polyhydramnios, Coronal hypospadias, E... |
OMIM:619859 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Tented upper lip vermilion, Pneumonia, Abnormal respiratory system physiology, Respiratory failur... |
ORPHA:98905 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure |
OMIM:610678 |
Marshall-Smith Syndrome |
|
Anteverted nares, Choanal atresia, Protruding tongue, Gingival overgrowth, Thin skin, Short nose,... |
ORPHA:561 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Recurrent skin infections, Edema, Skin erosion, Esophageal stricture, Dehydration, Gastrointestin... |
ORPHA:79404 |
Seckel Syndrome 2 |
|
Hypospadias, Ectopic kidney, Prominent nose, Microdontia, Microglossia |
OMIM:606744 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Death in childhood, Respiratory failure, High palate, Chy... |
OMIM:620278 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Widely spaced teeth, Respiratory insufficiency |
OMIM:135100 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cataract, Anteverted nares, Hypospadias, Tented upper lip vermilion, Cleft palate, Furrowed tongu... |
OMIM:616449 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Respiratory failure |
ORPHA:363400 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Peritonitis, Esophageal varix... |
ORPHA:131 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Polyhydramnios, Absent nares, Narrow ... |
ORPHA:990 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Sacral dimple, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Neonatal death, Ana... |
OMIM:314390 |
Wolcott-Rallison Syndrome |
|
Ascites, Dehydration, Exocrine pancreatic insufficiency |
ORPHA:1667 |
Cowden Syndrome 5 |
|
Colonic diverticula, Skin tags, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyp... |
OMIM:615108 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue |
OMIM:618732 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Respiratory failure, Skin erosion, Death in childhood |
OMIM:617186 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Preauricular pit, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Web... |
OMIM:619227 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
Wolman Disease |
|
Ascites, Esophageal varix, Steatorrhea |
ORPHA:75233 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure, Pallor |
ORPHA:3226 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Long philtrum |
OMIM:617895 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Narrow palate,... |
OMIM:608836 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Hypospadias, Sparse eyelashes, Bifid nasal tip, Sparse eyebrow, Bilater... |
OMIM:618874 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Skin rash, Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion |
ORPHA:542323 |
Tarp Syndrome |
|
Anteverted nares, Wide nasal bridge, Horseshoe kidney, Cleft palate, Tongue nodules, Glossoptosis... |
OMIM:311900 |
Mandibuloacral Dysplasia |
|
Alopecia, Dental crowding, Abnormal tongue morphology, Hypoplasia of teeth, High palate, Thin ski... |
ORPHA:2457 |
Retinitis Pigmentosa 89 |
|
Esophageal varix |
OMIM:618955 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... |
ORPHA:563 |
Lymphangiectasia, Pulmonary, Congenital |
|
Depressed nasal bridge, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Palpebral... |
OMIM:265300 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Pruritus, Esophageal varix, Gastric varix, Hepatocellular carcinoma,... |
ORPHA:64743 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Macroglossia, Glossitis, Genera... |
ORPHA:2221 |
Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cataract, Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropath... |
OMIM:175500 |
Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Glandular hypospadias,... |
ORPHA:1358 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Dysphagia, Respirator... |
OMIM:607625 |
Bloom Syndrome |
|
Skin rash, Pneumonia, Esophageal neoplasm, Chronic pulmonary obstruction, Cheilitis, Respiratory ... |
ORPHA:125 |
Renal Hypoplasia |
|
Polydipsia, Dehydration |
ORPHA:93101 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Polyhydramnios, Anorexia, Constipation, Polydipsia |
ORPHA:223 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Bulbous nose, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Agnathia-Otocephaly Complex |
|
Wide nose, Polyhydramnios, Aglossia, Cleft palate, Narrow mouth, Microglossia |
OMIM:202650 |
Portal Hypertension, Noncirrhotic, 1 |
|
Esophageal varix |
OMIM:617068 |
Dend Syndrome |
|
Vomiting, Dehydration |
ORPHA:79134 |
Cowden Syndrome 6 |
|
Colonic diverticula, Skin tags, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyp... |
OMIM:615109 |
3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Dehydration |
OMIM:616271 |
Peutz-Jeghers Syndrome |
|
Melanonychia, Neoplasm of the nose, Nasal polyposis, Intestinal obstruction, Abnormality of the n... |
ORPHA:2869 |
Radio-Renal Syndrome |
|
Respiratory distress, High, narrow palate, Dyspnea, Downturned corners of mouth, Respiratory fail... |
ORPHA:3015 |
Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Cleft palate, Webbed neck, Bifid tongue, Oligohydramnios |
ORPHA:2167 |
Trisomy 8Q |
|
Hypoplasia of penis, Non-midline cleft lip, Wide nasal bridge, Orofacial cleft, Cleft palate, Abn... |
ORPHA:1752 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Tongue fasciculations, Respiratory insufficiency |
OMIM:620285 |
Adams-Oliver Syndrome 6 |
|
Esophageal varix, Aplasia cutis congenita of scalp |
OMIM:616589 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... |
OMIM:618779 |
Oculocerebrorenal Syndrome Of Lowe |
|
Death in infancy, Malabsorption, Skin ulcer, Narrow palate, Atypical scarring of skin, Self-injur... |
ORPHA:534 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Anteverted nares, Highly arched eyebrow, Bulbous nose, Cleft palate, Furrowed ton... |
OMIM:615065 |
Faciocardiomelic Dysplasia, Lethal |
|
Neonatal death, Microglossia, Narrow mouth |
OMIM:227270 |
Pyruvate Carboxylase Deficiency |
|
Anorexia, Dehydration, Vomiting, Abnormal temper tantrums, Compulsive behaviors, Recurrent hand f... |
ORPHA:3008 |
Methylmalonic Aciduria, Cblb Type |
|
Vomiting, Dehydration |
OMIM:251110 |
Moebius Syndrome |
|
Death in infancy, Corneal opacity, Aplasia/Hypoplasia of the tongue, Cleft palate, Abnormality of... |
ORPHA:570 |
Microsporidiosis |
|
Anorexia, Peritonitis, Chronic diarrhea, Skin nodule, Dehydration, Vomiting, Intermittent diarrhe... |
ORPHA:2552 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Death in childhood, Respiratory failure, Dysphagia |
OMIM:619847 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
Muscular Dystrophy, Duchenne Type |
|
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... |
OMIM:310200 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Redundant neck skin, Exaggerated cupid's bow, Macroglossia, Respiratory failure, Open mouth |
ORPHA:254528 |
Adrenal Hypoplasia, Congenital |
|
Dehydration |
OMIM:300200 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Abnormality of hair textu... |
ORPHA:2752 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:620269 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Depressed nasal bridge, Anteverted nares, Cleft lip, Dental malocclusion, Wide nasal bridge, Ging... |
OMIM:616894 |
Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Peptic ulcer, Anorexia, Hematemesis, Diarrhea, Dehydration, Melena, Large cafe-au... |
ORPHA:652 |
Nephronophthisis 2 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
Neuroleptic Malignant Syndrome |
|
Dehydration, Agitation, Vomiting, Dysphagia, Nausea |
ORPHA:94093 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... |
ORPHA:209905 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
Aplasia Cutis Congenita |
|
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin |
ORPHA:1114 |
Congenital Sialidosis Type 2 |
|
Cataract, Corneal opacity, Edema, Protruding tongue, Gingival overgrowth, Developmental cataract,... |
ORPHA:93400 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defect, Respiratory failure, Dysphagia |
ORPHA:26791 |
Mohr Syndrome |
|
Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Broad nasal tip, Bifid nasal t... |
OMIM:252100 |
Immunodeficiency 23 |
|
Eczema, Allergic rhinitis, Esophageal stricture, Asthma, Erythema, Bronchiectasis, Chronic mucocu... |
OMIM:615816 |
Dopamine Beta-Hydroxylase Deficiency |
|
Diarrhea, Vomiting, Dehydration |
ORPHA:230 |
Adams-Oliver Syndrome 5 |
|
Cutis marmorata telangiectatica congenita, Pulmonary arterial hypertension, Esophageal varix, Apl... |
OMIM:616028 |
Marburg Hemorrhagic Fever |
|
Abnormality of the gastrointestinal tract, Maculopapular exanthema, Skin rash, Anorexia, Aggressi... |
ORPHA:99826 |
Septo-Optic Dysplasia Spectrum |
|
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Constipation, Polydipsia, Dry skin |
ORPHA:3157 |
Cowden Syndrome 1 |
|
Colonic diverticula, Skin tags, Acrokeratosis, Palmoplantar hyperkeratosis, Furrowed tongue, Hama... |
OMIM:158350 |
Barrett Esophagus |
|
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux |
OMIM:614266 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Chronic diarrhea, Hydrops fetalis, Dysphagia, Dehydration, Cor... |
ORPHA:699 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure, Gastroesophageal reflux, Hypopigmented skin patches |
ORPHA:206436 |
Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Horseshoe... |
OMIM:174300 |
Infantile Nephropathic Cystinosis |
|
Constipation, Polydipsia, Vomiting, Dehydration |
ORPHA:411629 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Depressed nasal bridge, Protruding tongue, Synophrys, Widow's peak, Upper eyelid edema, High pala... |
OMIM:617804 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Methylmalonic Aciduria, Cbla Type |
|
Vomiting, Dehydration |
OMIM:251100 |
Otospondylomegaepiphyseal Dysplasia |
|
Cataract, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Cleft palate, Glossoptosis, B... |
ORPHA:1427 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira... |
OMIM:615512 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure, Abnormality of the dentition, Hepatocellular carcinoma |
ORPHA:88618 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Prominent nasal bridge, Renal hypoplasia, Cleft palate, High pa... |
ORPHA:1307 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Joubert Syndrome 18 |
|
Lobulated tongue, Cleft palate, Renal cyst, Horseshoe kidney |
OMIM:614815 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis, Abnormal tongue morphology, Downturned corners of mouth, Wide nasal ridge |
ORPHA:531151 |
Cystic Fibrosis |
|
Meconium ileus, Diarrhea, Ileus, Rectal prolapse, Dehydration, Steatorrhea, Exocrine pancreatic i... |
OMIM:219700 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Sh... |
ORPHA:1507 |
Oligomeganephronia |
|
Polydipsia, Dehydration |
ORPHA:2260 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Aplasia cutis congenita on trunk or limbs, Recurrent skin infections, Oral mucosal blisters, Eryt... |
ORPHA:79396 |
Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Lobulated tongue, Coarse hair, High palate, Sparse hair, Multicystic kidney dysplas... |
ORPHA:2750 |
Colchicine Poisoning |
|
Diarrhea, Vomiting, Nausea, Dehydration |
ORPHA:31824 |
Raine Syndrome |
|
Natal tooth, Death in infancy, Hydroureter, Depressed nasal bridge, Choanal atresia, Highly arche... |
OMIM:259775 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy |
OMIM:616155 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Thick eyebrow, Macrodontia, Prominent nasal bridge, Protruding tongue, Diastema, Gingival overgro... |
OMIM:212066 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too... |
OMIM:150400 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Vomiting, Dehydration |
ORPHA:90791 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse scalp hair, Tented upper lip vermilion, Anteverted nares, Hypospadias, Exaggerated cupid's... |
ORPHA:464738 |
Methimazole Embryofetopathy |
|
Esophageal atresia, Tracheoesophageal fistula, Polyhydramnios |
ORPHA:1923 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Respiratory failure |
OMIM:614862 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Broad nasal tip, Protruding tongue, Submucous cleft hard palate, Wide nasal brid... |
OMIM:618106 |
Orofaciodigital Syndrome I |
|
Dry hair, Lobulated tongue, High palate, Sparse hair, Alopecia, Hamartoma of tongue, Cleft upper ... |
OMIM:311200 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Recurrent pneumonia, Respiratory failure, Wid... |
ORPHA:496641 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Esophageal stenosis, Oral leukoplakia, Abnormality of the dentition |
OMIM:616553 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Anteverted nares, Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion bord... |
OMIM:612938 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Dysphagia |
ORPHA:171430 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Furrowed tongue |
ORPHA:2928 |
Distal Renal Tubular Acidosis |
|
Diarrhea, Dehydration, Constipation, Vomiting, Polydipsia |
ORPHA:18 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Glossoptosis, Laryngotracheomalacia, Abnormal respiratory system physiology |
ORPHA:93346 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Anteverted nares, Underdeveloped nasal alae, Renal cyst, Glossoptos... |
ORPHA:2031 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Death in infancy, Seborrheic dermatitis, Pierre-Robin sequence, Gingival overgrowth, Downturned c... |
OMIM:300868 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thin upper lip vermilion, Renal insufficiency, Anteverted nares, Hypospadias, Hemolytic-uremic sy... |
OMIM:611209 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Aplasia/Hypoplasia of the skin, Esophageal varix, Aplasia cutis cong... |
ORPHA:974 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Protruding tongue, Prominent eyelashes, Wide nasal bridge, Gingival overg... |
OMIM:619179 |
Gracile Bone Dysplasia |
|
Death in infancy, Aniridia, Micropenis, Ascites, Ankyloglossia |
OMIM:602361 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prominent palatine ridges, ... |
OMIM:200990 |
Tetraamelia Syndrome 2 |
|
Absent nipple, Bilateral cleft lip, Cleft palate, Glossoptosis, Micropenis, Ankyloglossia |
OMIM:618021 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Esophageal varix |
OMIM:617341 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula |
OMIM:615706 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure, Atopic dermatitis |
ORPHA:3240 |
Riddle Syndrome |
|
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Erythema, Restrictive ventilatory defect, Resp... |
ORPHA:420741 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Low anterior hairline, Glossoptosis, High palate, Iris coloboma, Abnormal de... |
ORPHA:861 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Ascites, Esophageal varix, Nonimmune hydrops fetalis, Polyhydramnios |
ORPHA:367 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Hypospadias, Underdeveloped nasal alae, High, narrow palate, Cleft palate, Abnormal columella mor... |
ORPHA:436003 |
Cohen Syndrome |
|
Macrodontia, Prominent nasal bridge, Aplasia/Hypoplasia of the tongue, Abnormality of the dentiti... |
ORPHA:193 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Alopecia, Sparse eyelashes, Choanal atresia, Underdeveloped nasal alae, Abnormality ... |
ORPHA:2108 |
Geleophysic Dysplasia 3 |
|
Pneumonia, Dyspnea, Respiratory failure, Thick vermilion border, Long philtrum |
OMIM:617809 |
Developmental And Epileptic Encephalopathy 80 |
|
Increased urine alpha-ketoglutarate concentration, Death in infancy, Tented upper lip vermilion, ... |
OMIM:618580 |
Cowden Syndrome |
|
Macule, Subcutaneous nodule, Hypopigmented skin patches, Furrowed tongue, Hamartomatous polyposis... |
ORPHA:201 |
Orofaciodigital Syndrome Iv |
|
Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue... |
OMIM:258860 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Stomatitis, Glossitis, Hydrops fetalis, Dehydration |
ORPHA:79282 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Protruding tongue, Malabsorption, Macroglossia, Short nose |
OMIM:242860 |
Rabson-Mendenhall Syndrome |
|
Wide nose, Anteverted nares, Prominent nasal bridge, Dental crowding, Abnormality of the dentitio... |
ORPHA:769 |
Proximal Renal Tubular Acidosis |
|
Malabsorption, Diarrhea, Dehydration, Vomiting, Polydipsia |
ORPHA:47159 |
Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Death in infancy, Anteverted nares, Carious teeth, Oligohydramnios, Thin vermilion b... |
OMIM:601559 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Hamartoma of tongue, Prominent nose, Sparse eyebrow, Cleft lip, Renal hypoplasia, Re... |
OMIM:616300 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Carious teeth, Esophageal stricture, Palmoplantar hyperkeratosis, Microdontia, Oral leukoplakia |
OMIM:224230 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Ectopia lentis |
OMIM:604571 |
Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Depressed nasal bridge, Abnormal dental enamel morphology, Abnormality... |
ORPHA:1452 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Apnea, Dysphagia |
OMIM:617301 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Hypopnea, Respiratory failure, Dysphagia, Neonatal death, Respiratory ar... |
OMIM:617248 |
Pulmonary Alveolar Microlithiasis |
|
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... |
ORPHA:60025 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis |
OMIM:277320 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Thin upper lip vermilion, Thick eyebrow, Prominent nasal bridge, Diastema, Recurrent upper respir... |
OMIM:300534 |
Achondrogenesis, Type Ia |
|
Hypoplastic nasal bridge, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Protruding to... |
OMIM:200600 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
Caroli Disease |
|
Cholangiocarcinoma, Anorexia, Pruritus, Esophageal varix, Vomiting, Ascites, Nausea |
ORPHA:53035 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Esophageal stricture, Pancolitis, Inflammation of the large intestine, Oral leukoplakia, Petechiae |
OMIM:620133 |
Poliomyelitis |
|
Paralytic ileus, Respiratory failure requiring assisted ventilation, Respiratory failure, Dysphagia |
ORPHA:2912 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Erosion of oral mucosa, Recurrent skin infections, Anal fissure, Oral mucosal blisters, Carious t... |
ORPHA:79408 |
Costello Syndrome |
|
Redundant neck skin, Nevus, Pyloric stenosis, Pneumothorax, Thick lower lip vermilion, Respirator... |
OMIM:218040 |
Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Wide nasal bridge, Cleft pal... |
ORPHA:989 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Esophageal atresia, Deep philtrum, Cleft palate, Preauricular skin tag |
OMIM:610536 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... |
ORPHA:365 |
Kleefstra Syndrome 1 |
|
Natal tooth, Anteverted nares, Hypospadias, Persistence of primary teeth, Protruding tongue, Syno... |
OMIM:610253 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Rectal atresia, Respiratory failure, Narrow mouth, Anal atresia |
OMIM:617666 |
Robinow Syndrome |
|
Dental crowding, Orofacial cleft, Webbed penis, Micropenis, High anterior hairline, Multicystic k... |
ORPHA:97360 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Wide nose, Dental crowding, Synophrys, Narrow palate, Astigmatism, High... |
OMIM:616078 |
Leigh Syndrome |
|
Eczema, Gastrointestinal dysmotility, Respiratory failure, Dysphagia, Abnormal pattern of respira... |
ORPHA:506 |
Okamoto Syndrome |
|
Tented upper lip vermilion, Urinary incontinence, Downturned corners of mouth, Exaggerated median... |
ORPHA:2729 |
Generalized Pustular Psoriasis |
|
Pustule, Cheilitis, Palmoplantar pustulosis, Erythematous plaque, Erythroderma, Geographic tongue |
ORPHA:247353 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Su... |
ORPHA:31204 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Urticarial plaque, Skin rash, Eczema, Erythema nodosum, Aphthous ulcer, Esophageal varix, Oral ul... |
OMIM:615688 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Underdeveloped nasal alae, Increased nuchal translucency, Wide nasal bridge, Cleft palate, Furrow... |
ORPHA:453499 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Glossoptosis, Upper airway obstruction, Cleft palate |
ORPHA:440354 |
Congenital Fiber-Type Disproportion Myopathy |
|
Dental crowding, Hypercapnia, Respiratory insufficiency due to muscle weakness, Dysphagia, Hypoxe... |
ORPHA:2020 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Gastroesophageal reflux, Dental crowding, Narrow palate |
ORPHA:313892 |
Osteopetrosis, Autosomal Recessive 5 |
|
Respiratory failure, Stillbirth, Gingival overgrowth, Long philtrum |
OMIM:259720 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Protruding tongue, Bulbous nose, Everted lower li... |
ORPHA:324410 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Colitis, Esophageal stenosis |
OMIM:615190 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Tongue fasciculations |
OMIM:601596 |
Cholesteryl Ester Storage Disease |
|
Death in infancy, Diarrhea, Esophageal varix, Vomiting, Steatorrhea |
OMIM:278000 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced teeth, Iris hypopigmentation |
ORPHA:98795 |
Frontorhiny |
|
Cataract, Widow's peak, Cleft palate, Midline nasal groove, Bifid tongue, Iris coloboma |
ORPHA:391474 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Cleft palate, Glossoptosis, Webbed neck, Tracheo... |
ORPHA:1393 |
Otopalatodigital Syndrome Type 2 |
|
Cataract, Hypospadias, Depressed nasal bridge, Developmental glaucoma, Pierre-Robin sequence, Cle... |
ORPHA:90652 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Tongue atrophy, Reduced vital capacity, Penetrating foot ulcers, Respiratory insufficiency, Diffi... |
ORPHA:99956 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Edema, Polyhydramnios... |
OMIM:269860 |
Juvenile Nephropathic Cystinosis |
|
Polydipsia, Vomiting, Dehydration |
ORPHA:411634 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, High, narrow palate, Dyspnea, Submucous cleft hard palate, Cleft palate, Re... |
ORPHA:2554 |
3-Methylglutaconic Aciduria Type 7 |
|
Respiratory failure, Pneumothorax |
ORPHA:445038 |
Au-Kline Syndrome |
|
Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal tip, Supernumera... |
OMIM:616580 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Intestinal malrotation, Tachypnea, Esophageal varix, Respiratory insufficiency, Respiratory failu... |
OMIM:613658 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Sclerocornea, Polyhydramnios, Advanced eruption of teeth, Iris coloboma, Mul... |
ORPHA:818 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Esophageal stricture, Oral leukoplakia, Palmoplantar hyperkeratosis, Abnormality of the dentition |
OMIM:613989 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Dehydration, Dysphagia, Polydipsia, Exocrine pancreatic insufficiency |
OMIM:219800 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Deep philtrum, Anorectal anomaly, Recurrent pneumonia, Non-midline cleft lip, Clef... |
ORPHA:647 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood |
OMIM:610505 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Protruding tongue, Neonatal asphyxia, Respiratory insufficiency, Excessive wrin... |
OMIM:608779 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Epispadias, Abnormality of the gingiva, High, narrow palate, Downturned corn... |
ORPHA:3107 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Renal insufficiency, Hypoplasia of penis, Anteverted nares, Highly arched eyebrow, Protruding ton... |
ORPHA:96147 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Protruding tongue, Gingival overgrowth, Generalized hypertrichosis |
ORPHA:93399 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Pruritus, Esophageal varix |
OMIM:619662 |
Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Nasal polyposis |
OMIM:208550 |
Hereditary Folate Malabsorption |
|
Glossitis, Pallor, Gastroesophageal reflux, Cheilitis |
ORPHA:90045 |
Listeriosis |
|
Respiratory distress, Unusual skin infection, Miscarriage, Pneumonia, Pustule, Intermittent gener... |
ORPHA:533 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Vesicoureteral r... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Vesicoureteral r... |
ORPHA:352665 |
Kinsship Syndrome |
|
Thin upper lip vermilion, Death in infancy, Bulbous nose, Thick lower lip vermilion, Synophrys, R... |
OMIM:619297 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate |
ORPHA:2001 |
Carey-Fineman-Ziter Syndrome 1 |
|
Cataract, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Pierre-Robin sequence, Cleft... |
OMIM:254940 |
Chand Syndrome |
|
Curly hair, Hydroureter, Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnor... |
ORPHA:1401 |
Rhombencephalosynapsis |
|
Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Narrow mouth, Anal atresia |
ORPHA:59315 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Orofacial cleft, Abnormality of the ... |
ORPHA:958 |
Orofaciodigital Syndrome Type 6 |
|
Prominent nasal bridge, Hamartoma of tongue, Broad nasal tip, Highly arched eyebrow, Cleft palate... |
ORPHA:2754 |
Bartter Syndrome, Type 2, Antenatal |
|
Polyhydramnios, Diarrhea, Dehydration, Constipation, Vomiting, Polydipsia |
OMIM:241200 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Polyhydramnios, Megacystis, Hydronephrosis, Neonatal death, Microcolon |
OMIM:619362 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Sacral dimple, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morph... |
ORPHA:2556 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Aglossia, Choanal stenosis |
OMIM:241310 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Cataract, Anteverted nares, Hypospadias, Protruding tongue, Brushfield spots, High, narrow palate... |
OMIM:214100 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Neonatal respiratory distress, Cleft soft palate, Carious teeth, Cleft lip, Pierre... |
OMIM:117650 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate, Smooth philtrum |
OMIM:614526 |
Pitt-Hopkins-Like Syndrome 2 |
|
Hyperventilation, Wide mouth, Gastroesophageal reflux, Protruding tongue |
OMIM:614325 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Macroglossia, High palate, Dehydration, Oligohydramnios |
ORPHA:96191 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Skin rash, Tracheoesophageal fistula, High palate, Stomatitis, Glossitis |
OMIM:277380 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:746 |
Pallister-Hall Syndrome |
|
Natal tooth, Hydroureter, Depressed nasal bridge, Anteverted nares, Choanal atresia, Ectopic kidn... |
OMIM:146510 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Polyhydramnios, Downturned corners of mouth, Choanal stenosis, Sparse hair, Bifid uvula, Iris col... |
OMIM:620186 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced teeth, Iris hypopigmentation |
ORPHA:411511 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Hematemesis, Dyspnea, Melena, Respiratory failure, Co... |
ORPHA:340 |
Non-Syndromic Posterior Hypospadias |
|
Esophageal atresia, Anal atresia, Cleft palate |
ORPHA:95706 |
Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Cataract, Aplasia/Hypoplasia of the tongue, S... |
ORPHA:564 |
Bartter Syndrome, Type 3 |
|
Dehydration |
OMIM:607364 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis |
OMIM:242670 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Thick hair, Hamartoma of tongue, Unilateral alveolar cleft of maxi... |
ORPHA:2751 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure |
ORPHA:280210 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Vomiting, Dehydration |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Vomiting, Dehydration |
ORPHA:289548 |
Ciliary Dyskinesia, Primary, 42 |
|
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis |
OMIM:618695 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618329 |
Apert Syndrome |
|
Delayed eruption of teeth, Esophageal atresia, Cleft palate, Narrow palate, Respiratory insuffici... |
ORPHA:87 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Cataract, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Protruding tongu... |
ORPHA:50945 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea |
ORPHA:555874 |
Epidermolysis Bullosa, Junctional 5A, Intermediate |
|
Premature loss of permanent teeth, Urethral stenosis, Absent pubic hair, Nail dystrophy, Absent a... |
OMIM:619816 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Respiratory failure |
OMIM:620327 |
Pelvis-Shoulder Dysplasia |
|
Cleft palate, Microcornea, Hydronephrosis, Thick anterior alveolar ridges, Facial hirsutism, Micr... |
ORPHA:2839 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Apnea, Respiratory insufficiency, Respiratory failure, Tongue fasciculations |
OMIM:252010 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Prominent nose, High, narrow palate, Deep philtrum, Low anterior hairline, Downturned corners of ... |
OMIM:619950 |
Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Absent outer dynein arms, Anosmia, Abnormal cornea morphology, Chronic rhinitis |
OMIM:244400 |
Angelman Syndrome |
|
Protruding tongue, Blue irides, Wide mouth, Macroglossia, Widely spaced teeth, Fair hair |
OMIM:105830 |
Senior-Boichis Syndrome |
|
Aggressive behavior, Esophageal varix, Agitation, Attention deficit hyperactivity disorder, Polyd... |
ORPHA:84081 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
U-Shaped upper lip vermilion, Depressed nasal bridge, Hypospadias, Anteverted nares, Protruding t... |
OMIM:301040 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, D... |
OMIM:268310 |
Ciliary Dyskinesia, Primary, 19 |
|
Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms |
OMIM:614935 |
Coach Syndrome 1 |
|
Wide mouth, Esophageal varix |
OMIM:216360 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Orofacial cleft, Downturned corners of mouth, High palat... |
OMIM:180700 |
Tarp Syndrome |
|
Anteverted nares, Abnormal hair pattern, Pierre-Robin sequence, Wide nasal bridge, Horseshoe kidn... |
ORPHA:2886 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Tented upper lip vermilion, Redundant neck skin, Miscarriage, Deep philtrum, Cutis laxa, Macroglo... |
ORPHA:96334 |
Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations, Dysphagia |
OMIM:614153 |
Cirrhosis, Familial |
|
Ascites, Esophageal varix |
OMIM:215600 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Hypoventilation, Spontaneous pneumothorax, Recur... |
ORPHA:731 |
1Q21.1 Microdeletion Syndrome |
|
Cataract, Bulbous nose, Wide nasal bridge, Hydronephrosis, High palate, Long philtrum, Vesicouret... |
ORPHA:250989 |
Bartter Syndrome, Type 1, Antenatal |
|
Polyhydramnios, Diarrhea, Dehydration, Constipation, Vomiting |
OMIM:601678 |
Fanconi Anemia, Complementation Group B |
|
Esophageal atresia, Death in infancy, Tracheoesophageal fistula, Duodenal atresia |
OMIM:300514 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Cleft lip, Cleft palate, Neonatal deat... |
OMIM:617925 |
Marshall-Smith Syndrome |
|
Irregular dentition, Brittle hair, Synophrys, Anteriorly placed anus, Glossoptosis, Choanal steno... |
OMIM:602535 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Enuresis nocturna, Oligodontia, Widely spaced teeth, Microdontia, Advanced e... |
OMIM:615873 |
Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Tongue fasciculations, Dysphagia |
ORPHA:276198 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Broad eyebrow, Anteverted nares, Choanal atresia, Hypospadias, Cleft lip, Bulbous nose, Widow's p... |
OMIM:616975 |
Hyperoxaluria, Primary, Type I |
|
Dehydration |
OMIM:259900 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... |
ORPHA:79138 |
Yunis-Varon Syndrome |
|
Sclerocornea, Polyhydramnios, High, narrow palate, Hydrops fetalis, Broad secondary alveolar ridg... |
ORPHA:3472 |
Orofaciodigital Syndrome Vi |
|
Accessory oral frenulum, Cleft upper lip, Broad nasal tip, Hamartoma of tongue, Cleft palate, Inc... |
OMIM:277170 |
Icf Syndrome |
|
Macroglossia, Malabsorption, Depressed nasal bridge, Protruding tongue |
ORPHA:2268 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Miscarriage, Vomiting, Acne, Dehydration |
ORPHA:90794 |
Fanconi Anemia, Complementation Group L |
|
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Webbed neck, Cafe-au-lait spot, Anal... |
OMIM:614083 |
Immunodeficiency 13 |
|
Recurrent sinusitis, Nasal polyposis, Recurrent upper respiratory tract infections |
OMIM:615518 |
Opitz Gbbb Syndrome |
|
Preauricular pit, Natal tooth, Cleft lip, Tracheoesophageal fistula, Cleft palate, Stridor, Ectop... |
ORPHA:2745 |
Lethal Faciocardiomelic Dysplasia |
|
Microglossia, Narrow mouth |
ORPHA:1972 |
Myhre Syndrome |
|
Thin upper lip vermilion, Cleft lip, Respiratory insufficiency, Cleft palate, Respiratory failure... |
OMIM:139210 |
Bartter Syndrome Type 4 |
|
Vomiting, Polyhydramnios, Dehydration |
ORPHA:89938 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
Giant Cell Arteritis |
|
Epistaxis, Skin ulcer, Gastrointestinal infarctions, Cough, Glossitis |
ORPHA:397 |
Ciliary Dyskinesia, Primary, 22 |
|
Nasal polyposis, Rhinitis, Recurrent sinusitis, Absent inner and outer dynein arms |
OMIM:615444 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Epidermoid cyst, Respiratory failure, Confetti-like hypopigmented macules, ... |
ORPHA:805 |
Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Tented upper lip vermilion, Intestinal pseudo... |
ORPHA:273 |
Stickler Syndrome |
|
Cataract, Anteverted nares, Depressed nasal bridge, Abnormal dental enamel morphology, Ectopia le... |
ORPHA:828 |
Wilson Disease |
|
Edema, Esophageal varix, Dysphagia, Pedal edema, Vomiting, Hepatocellular carcinoma, Ascites |
OMIM:277900 |
Mirage Syndrome |
|
Esophageal stricture, Gastroesophageal reflux, Aspiration pneumonia, Achalasia, Petechiae |
OMIM:617053 |
Fraser Syndrome |
|
Hypoplasia of penis, Cleft ala nasi, Dental crowding, Orofacial cleft, Urethral atresia, High pal... |
ORPHA:2052 |
Microgastria-Limb Reduction Defect Syndrome |
|
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... |
ORPHA:2538 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Glossitis, Stomatitis, Skin rash, Cleft palate |
ORPHA:79284 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Respiratory failure, Tachypnea, Respiratory insufficiency, Death in childhood |
OMIM:618278 |
Abetalipoproteinemia |
|
Fat malabsorption, Respiratory failure, Steatorrhea |
ORPHA:14 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced teeth, Iris hypopigmentation |
ORPHA:98794 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Diarrhea, Esophageal varix, Hepatocellular adenoma, Vomiting, Nausea |
ORPHA:264580 |
Fryns Syndrome |
|
Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotation, Cleft upper lip, Esoph... |
OMIM:229850 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Apnea, Dental crowding, Deep philtrum, Facial erythema, Downturned corners of mouth, High palate,... |
OMIM:619503 |
Ritscher-Schinzel Syndrome 2 |
|
Intestinal malrotation, Protruding tongue, Low posterior hairline, High palate, Short philtrum, C... |
OMIM:300963 |
Joubert Syndrome 21 |
|
Apnea, Dyspnea, Respiratory failure, Dysphagia, Chronic sinusitis |
OMIM:615636 |
Ciliary Dyskinesia, Primary, 30 |
|
Nasal congestion, Absent outer dynein arms, Nasal polyposis |
OMIM:616037 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Curly hair, Cataract, Anteverted nares, Hypospadias, Highly arched eyeb... |
ORPHA:444077 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Dehydration |
ORPHA:99885 |
Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Epistaxis, Pulmonary embolism, Esophageal vari... |
ORPHA:774 |
Meckel Syndrome, Type 1 |
|
Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, Abnormality of th... |
OMIM:249000 |
Hardikar Syndrome |
|
Preauricular pit, Cleft soft palate, Intestinal malrotation, Pruritus, Celiac disease, Hematemesi... |
OMIM:301068 |
Apert Syndrome |
|
Delayed eruption of teeth, Acne, Esophageal atresia, Pyloric stenosis, Dental malocclusion, Narro... |
OMIM:101200 |
Feingold Syndrome |
|
Esophageal atresia, Orofacial cleft, Duodenal atresia |
ORPHA:1305 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Dental crowding, Pulmonary embolism, Esophageal varix, High palate |
ORPHA:394 |
Ciliary Dyskinesia, Primary, 35 |
|
Nasal polyposis, Chronic rhinitis |
OMIM:617092 |
Angelman Syndrome |
|
Keratoconus, Protruding tongue, Wide mouth, Astigmatism, Widely spaced teeth, Fair hair, Iris hyp... |
ORPHA:72 |
Fontaine Progeroid Syndrome |
|
High, narrow palate, Synophrys, Low anterior hairline, Anteriorly placed anus, Oligodontia, Coars... |
OMIM:612289 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Nasal polyposis, Recurrent sinusitis |
OMIM:620197 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Neonatal respiratory distress, Intestinal malrotation, Esophageal atresia, Cleft lip, Tracheoesop... |
OMIM:265380 |
Kawasaki Disease |
|
Abnormality of nail color, Proteinuria, Edema, Recurrent pharyngitis, Cheilitis, Sterile pyuria, ... |
ORPHA:2331 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Polyhydramnios, Synophrys, Low anterior hairline, Short philtrum, Widely spaced teeth, Sparse hai... |
OMIM:619841 |
Hypoglossia-Hypodactylia |
|
Microglossia, Aglossia, Narrow mouth |
OMIM:103300 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Polycystic kidney dys... |
OMIM:613091 |
Peutz-Jeghers Syndrome |
|
Nasal polyposis, Rectal prolapse, Abnormality of the ureter, Multiple gastric polyps, Oral melano... |
OMIM:175200 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Skin rash, Necrolytic migratory erythema, Pr... |
ORPHA:97280 |
Trisomy 18 |
|
Esophageal atresia, Non-midline cleft lip, Narrow palate, Cleft palate, Webbed neck, Narrow mouth... |
ORPHA:3380 |
Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia |
OMIM:615272 |
Ciliary Dyskinesia, Primary, 2 |
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Nasal polyposis, Absent inner and outer dynein arms |
OMIM:606763 |
Myopathy, Myofibrillar, 7 |
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Tongue atrophy, Urinary incontinence, Enuresis nocturna |
OMIM:617114 |
X-Linked Dystonia-Parkinsonism |
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Impaired oropharyngeal swallow response, Aspiration pneumonia, Protruding tongue |
ORPHA:53351 |
Benign Schwannoma |
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Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology |
ORPHA:252164 |
Cartilage-Hair Hypoplasia |
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Anal stenosis, Aganglionic megacolon, Malabsorption, Esophageal atresia, Constipation |
OMIM:250250 |
Distal 22Q11.2 Microdeletion Syndrome |
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Thin upper lip vermilion, Prominent nasal bridge, Choanal atresia, Underdeveloped nasal alae, Hig... |
ORPHA:261330 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Esophageal atresia, Tracheoesophageal fistula |
ORPHA:77298 |
Van Esch-O'Driscoll Syndrome |
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Sacral dimple, Impulsivity, Esophageal atresia, Tracheoesophageal fistula, Attention deficit hype... |
OMIM:301030 |
Plague |
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Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Hematemesis, Localized skin lesio... |
ORPHA:707 |
Imerslund-Gräsbeck Syndrome |
|
Pallor, Glossitis, Angular cheilitis |
ORPHA:35858 |
Distal Deletion 12Q |
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Late onset atopic dermatitis, Median cleft lip, High, narrow palate, Esophageal atresia, Pyloric ... |
ORPHA:96149 |
Lenz-Majewski Hyperostotic Dwarfism |
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Hypospadias, Choanal atresia, Abnormality of the dentition, Cleft palate, Anteriorly placed anus,... |
OMIM:151050 |
Charcot-Marie-Tooth Disease Type 4C |
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Hypoventilation, Tongue atrophy, Respiratory insufficiency, Tongue fasciculations, Difficulty in ... |
ORPHA:99949 |
Ciliary Dyskinesia, Primary, 15 |
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Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis |
OMIM:613808 |
Okur-Chung Neurodevelopmental Syndrome |
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Thin upper lip vermilion, Anteverted nares, Highly arched eyebrow, Protruding tongue, Polyhydramn... |
OMIM:617062 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
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Respiratory failure, Death in childhood |
OMIM:618252 |
Localized Junctional Epidermolysis Bullosa |
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Scarring alopecia of scalp, Atypical scarring of skin, Aplasia cutis congenita, Skin detachment, ... |
ORPHA:251393 |
Spondyloepiphyseal Dysplasia Congenita |
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Glossoptosis, Laryngotracheomalacia, Abnormal respiratory system physiology, Cleft palate |
ORPHA:94068 |
Orofaciodigital Syndrome Type 14 |
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Accessory oral frenulum, Hamartoma of tongue, Epispadias, Bulbous nose, Supernumerary tooth, Apla... |
ORPHA:434179 |
Catel-Manzke Syndrome |
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Cleft upper lip, Pierre-Robin sequence, Cleft palate, Glossoptosis, Low insertion of columella, N... |
OMIM:616145 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Gastrointestinal dysmotility, Cleft palate, Downturned corners of mouth, Respiratory failure, Thi... |
ORPHA:500150 |
Joubert Syndrome 1 |
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Anteverted nares, Highly arched eyebrow, Protruding tongue, Renal cyst, Macroglossia, Triangular-... |
OMIM:213300 |
Cousin Syndrome |
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Low anterior hairline, Alveolar ridge overgrowth, Cleft palate, Microcornea, Facial hirsutism, Mi... |
OMIM:260660 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Dyspnea, Submucous cleft hard palate, Cleft palate, Respiratory failure, Thick vermilion border, ... |
ORPHA:2636 |
Primary Fanconi Renotubular Syndrome |
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Dehydration |
ORPHA:3337 |
Progeroid Short Stature With Pigmented Nevi |
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Irregular dentition, Numerous nevi, Allergic rhinitis, Hypodontia, Esophageal ulceration |
OMIM:176690 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Wide nose, Cataract, Depressed nasal bridge, Hypoplasia of penis, Urethrovaginal fistula, Cleft u... |
ORPHA:93271 |
Degcags Syndrome |
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Polyhydramnios, Prominent nose, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Pre... |
OMIM:619488 |
Neuroocular Syndrome |
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Brittle hair, Synophrys, Lens coloboma, Microcornea, Downturned corners of mouth, Widely spaced t... |
OMIM:619539 |
Caroli Syndrome |
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Cholangiocarcinoma, Pruritus, Hematemesis, Esophageal varix, Melena |
ORPHA:480520 |
Feingold Syndrome 1 |
|
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal fistula, High pa... |
OMIM:164280 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Protruding tongue, Synophrys... |
OMIM:619777 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Aganglionic megacolon, Prominent corneal nerve fibers, Elev... |
ORPHA:653 |
Vacterl With Hydrocephalus |
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Esophageal atresia, Polyhydramnios, Tracheoesophageal fistula, Anal atresia |
ORPHA:3412 |
Granulomatosis With Polyangiitis |
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Keratitis, Oral ulcer, Concave nasal ridge, Conjunctivitis, Nasal mucosa vasculitis |
OMIM:608710 |
Arima Syndrome |
|
Wide mouth, Dyspnea, Tachypnea, Esophageal varix |
OMIM:243910 |
Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, High palate, Dystrophic fingernails, Absent eyebrow, Nar... |
ORPHA:740 |
Gm1-Gangliosidosis, Type Ii |
|
Narrow mouth, Gingival overgrowth, Dysphagia, Protruding tongue |
OMIM:230600 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Esophageal atresia, Tracheoesophageal fistula, Attention deficit hyperactivity dis... |
OMIM:227646 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
U-Shaped upper lip vermilion, Thin upper lip vermilion, Tented upper lip vermilion, Depressed nas... |
OMIM:309580 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Synophrys, Short philtrum, High palate, Micropenis, Juvenile cataract, Iris ... |
OMIM:619475 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Hydrops fetalis, Cleft palate, Mic... |
OMIM:263520 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Apnea, Protruding tongue |
OMIM:619580 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia |
OMIM:619352 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Pneumothorax, Respiratory failure, Thin vermilion border, High palate, Narr... |
ORPHA:3404 |
Developmental And Epileptic Encephalopathy 31B |
|
Gingival overgrowth, Protruding tongue |
OMIM:620352 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Renal insufficiency, Nasal polyposis, Proteinuria, Intestinal obstruction, Malabsorption, Hematur... |
ORPHA:183 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Renal cyst, Micropenis, Bifid uvula, Penoscrotal hypospadias, Death in infancy, ... |
OMIM:270400 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Esophageal varix, Skin ulcer, Pulmonary arterial hypertension, ... |
ORPHA:2072 |
Charcot-Marie-Tooth Disease Type 1F |
|
Tongue atrophy, Urinary incontinence |
ORPHA:101085 |
Otopalatodigital Syndrome, Type Ii |
|
Respiratory insufficiency, Cleft palate, Respiratory failure, Stillbirth, Narrow mouth |
OMIM:304120 |
Niemann-Pick Disease Type C |
|
Respiratory failure, Respiratory insufficiency, Aspiration pneumonia, Dysphagia |
ORPHA:646 |
Viss Syndrome |
|
Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Emphysema, Broad uv... |
OMIM:619472 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Respiratory insufficiency due to muscle weakness, Tongue atrophy, Atopic dermatitis |
ORPHA:466768 |
Dyskeratosis Congenita, X-Linked |
|
Carious teeth, Esophageal stricture, Restrictive ventilatory defect, Dermal atrophy, Premature lo... |
OMIM:305000 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Multicystic kidney dysplasia, Hypospadias, Broad nasal tip, Abnormality... |
ORPHA:1596 |
Feingold Syndrome Type 1 |
|
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia |
ORPHA:391641 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polyhydramnios, Renal cyst, Exaggerated median tongue furrow, Depressed nasal bridge, Anteverted ... |
OMIM:312870 |
Maternal Phenylketonuria |
|
Esophageal atresia, High palate, Long philtrum |
ORPHA:2209 |
Sarcoidosis |
|
Abnormal nasal mucosa morphology, Cataract, Renal insufficiency, Alopecia, Nephrolithiasis, Hyper... |
ORPHA:797 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Sacral dimple, Apnea, Abnormality of the dentition, Asthma, Smooth tongue |
ORPHA:3206 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Esophageal varix |
ORPHA:309854 |
Orofaciodigital Syndrome Xiv |
|
Natal tooth, Hamartoma of tongue, Epispadias, Supernumerary tooth, Cleft lip, Aplasia of the epig... |
OMIM:615948 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Downturned corners of mouth, Ankyloglossia, Cleft palate, Developmental cataract |
ORPHA:488642 |
Bilateral Perisylvian Polymicrogyria |
|
Apnea, Protruding tongue, Pseudobulbar paralysis, Gastroesophageal reflux, Dysphagia, Aspiration |
ORPHA:98889 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Polyhydramnios, Scarring alopecia of scalp, Skin erosi... |
ORPHA:158684 |
Carney Complex |
|
Neoplasm of the stomach, Atypical nevi in non-sun exposed areas, Esophageal neoplasm, Neoplasm of... |
ORPHA:1359 |
Down Syndrome |
|
Redundant neck skin, Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, A... |
OMIM:190685 |
Gabriele-De Vries Syndrome |
|
Abnormality of upper lip vermillion, Oral-pharyngeal dysphagia, Abnormality of the dentition, Eso... |
ORPHA:506358 |
Pallister-Hall Syndrome |
|
Natal tooth, Anteverted nares, Choanal atresia, Unilateral renal agenesis, Ectopic kidney, Hyposp... |
ORPHA:672 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Wide nose, Membranoproliferative glomerulonephritis, Underdeveloped nasal alae, Moderate albuminu... |
OMIM:619525 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Esophageal varix, Gastroesophageal reflux, Neonatal death, Ascites, Genera... |
OMIM:619534 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Polyhydramnios, Oral mucosal blisters, Urinary bladder inflammation, Enamel h... |
ORPHA:79403 |
Charge Syndrome |
|
Anal stenosis, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Dysph... |
OMIM:214800 |
Microphthalmia, Syndromic 3 |
|
Esophageal atresia |
OMIM:206900 |
Cystic Fibrosis |
|
Nasal polyposis, Meconium ileus, Malabsorption, Rectal prolapse, Nephrolithiasis, Steatorrhea |
ORPHA:586 |
Microphthalmia, Syndromic 6 |
|
Sclerocornea, Renal hypoplasia, Cleft palate, Microcornea, High palate, Microglossia, Bifid uvula |
OMIM:607932 |
Vater/Vacterl Association |
|
Esophageal atresia, Tracheoesophageal fistula, Anal atresia |
OMIM:192350 |
Alström Syndrome |
|
Respiratory distress, Abnormality of dental color, Chronic pulmonary obstruction, Esophageal vari... |
ORPHA:64 |
Choreoacanthocytosis |
|
Dysphagia, Protruding tongue |
ORPHA:2388 |