| Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... |
OMIM:311895 |
| Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
| Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center |
OMIM:235550 |
| Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
| Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
| Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... |
ORPHA:3104 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
| Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
| Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia |
OMIM:619126 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Upper limb amyotrophy, Talipes equinovar... |
ORPHA:496689 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters |
OMIM:619817 |
| Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
| Plummer-Vinson Syndrome |
|
Tongue atrophy, Geophagia, Intra-oral hyperpigmentation, Narrow mouth, Cheilitis, Esophageal web,... |
ORPHA:54028 |
| Hartnup Disorder |
|
Hyperactivity, Glossitis, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Short thum... |
OMIM:227270 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Esophageal stricture, Hyperkeratosis, Palmoplantar keratoderma, Hypodo... |
OMIM:616029 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
| Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
| Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
| Catel-Manzke Syndrome |
|
Camptodactyly of finger, Metatarsus valgus, Radial deviation of the 2nd finger, Cleft palate, Glo... |
ORPHA:1388 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Aplasia/Hypoplasia of fingers, Cleft palate |
ORPHA:141152 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Congenital pyloric atresia |
OMIM:612138 |
| Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Death in infancy |
OMIM:614876 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations, Dysphagia |
OMIM:613435 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... |
ORPHA:411696 |
| Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, Hyperkera... |
ORPHA:530 |
| Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
| Epidermolysis Bullosa Simplex 2A, Generalized Severe |
|
Palmoplantar blistering, Palmoplantar hyperkeratosis, Oral mucosal blisters |
OMIM:619555 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Oral mucosal blisters, Narrow mouth, Esophageal stricture, Dy... |
OMIM:226600 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Long philtrum, Cleft palate, Abnormal metacarpal morphology |
ORPHA:166100 |
| Tylosis With Esophageal Cancer |
|
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos... |
OMIM:148500 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Hamartoma of tongue, Accessory oral frenulum, Cleft palate... |
OMIM:258860 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy, Impulsivity, Compulsive behaviors, Dysphagia, Violent behavior |
ORPHA:216873 |
| Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Attention deficit hyperactivity disorder, Abnormal stomach morphology |
ORPHA:281090 |
| Auriculocondylar Syndrome 2A |
|
Dental crowding, Narrow mouth, Mandibular condyle aplasia, Dental malocclusion, Cleft palate, Glo... |
OMIM:614669 |
| Whistling Face Syndrome, Recessive Form |
|
Narrow mouth, Whistling appearance, Elbow flexion contracture, Ulnar deviation of finger, High pa... |
OMIM:277720 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Anorexia, Tapered finger, Malabsorption, Hypogeusia, Furrowed tongue, Hamar... |
ORPHA:2930 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly, Death in infancy, Carious teeth, Pyloric stenosis, Enamel hypoplasia |
OMIM:226700 |
| Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... |
ORPHA:2919 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ... |
ORPHA:3201 |
| Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
| Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Scapular winging, Shoulder girdle muscle weakness, Tongue atrophy, Dysphagia |
OMIM:158900 |
| Mast Cell Sarcoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
| Orofaciodigital Syndrome Xv |
|
Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Midline notch of uppe... |
OMIM:617127 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Furrowed tongue, Ulnar deviation of finger, Brachydactyly |
ORPHA:2928 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Single transverse palmar crease, 2-3 toe syndactyly, Downturned corners... |
OMIM:613443 |
| Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy |
OMIM:608971 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Short thumb, Microglossia |
OMIM:616540 |
| Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... |
ORPHA:157798 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Areflexia of upper limbs, Tongue atrophy, Talipes equinovarus |
OMIM:616155 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... |
ORPHA:989 |
| Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of mouth, Wide mouth, High ... |
OMIM:618779 |
| Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia of the radius, Fibu... |
ORPHA:1972 |
| Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach |
OMIM:114500 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Abnormal distal phalanx morphology of finger, Abnormality of the hand, Furrowed tongue, Ulnar dev... |
ORPHA:1387 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
| Hereditary Mucoepithelial Dysplasia |
|
Anorectal anomaly, Gingival overgrowth, Tracheoesophageal fistula, Furrowed tongue, Hyperkeratosis |
ORPHA:1839 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Dental crowding, Aggressive behavior, 2-3 toe syndactyly, Narro... |
ORPHA:313892 |
| Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia... |
OMIM:613390 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Single transverse palmar crease, Pierre-Robin sequence, Glossoptosis, H... |
OMIM:613604 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia... |
OMIM:192445 |
| Retinitis Pigmentosa 89 |
|
Esophageal varix, Postaxial polydactyly |
OMIM:618955 |
| Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact... |
OMIM:174300 |
| Mohr Syndrome |
|
Syndactyly, Median cleft lip, Accessory oral frenulum, Preaxial hand polydactyly, Postaxial hand ... |
OMIM:252100 |
| Fg Syndrome 3 |
|
Death in infancy, Hyperactivity, Broad hallux, Pyloric stenosis, Broad thumb |
OMIM:300406 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Clef... |
OMIM:620269 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Xerostomia, Clubbing, Hamartomatous polyposis, Hematochezia, Clubbing of... |
OMIM:175500 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Death in infancy, Abnormal mor... |
ORPHA:570 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue |
OMIM:618732 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Esophageal varix |
OMIM:617068 |
| Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
| Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
| Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Broad palm, Genu val... |
OMIM:300602 |
| Orofaciodigital Syndrome Xix |
|
Toe syndactyly, Broad hallux, Cleft soft palate, Type A brachydactyly, Accessory oral frenulum, C... |
OMIM:620107 |
| Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Folli... |
OMIM:615726 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Abnormal gastric mucosa mor... |
ORPHA:2494 |
| Trisomy 18P |
|
High, narrow palate, Pyloric stenosis, Abnormal finger morphology, Thin vermilion border, Attenti... |
ORPHA:1715 |
| Alpha-1-Antitrypsin Deficiency |
|
Gastric varix, Hepatocellular carcinoma |
OMIM:613490 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:444463 |
| External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Rocker bottom foot, Single transverse palmar crease, Pyloric stenosis, Short 5th finger, Bilatera... |
OMIM:133705 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis, Clinodactyly, Radial deviation of finger |
OMIM:188025 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Carious teeth, Narrow mouth, Esophageal stricture, Dysphagia, ... |
ORPHA:89842 |
| Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
| Noonan Syndrome 7 |
|
Deep palmar crease, Thick vermilion border, Dysphagia, Impaired oropharyngeal swallow response, C... |
OMIM:613706 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Bilateral cleft lip and palate, Clinodactyly of the 5th finger, Bifid ton... |
ORPHA:2001 |
| Joubert Syndrome 18 |
|
Bowing of the long bones, Postaxial polydactyly, Cleft palate, Lobulated tongue, Talipes equinova... |
OMIM:614815 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Esophageal stricture, Gastrointestinal inflammation, Palmop... |
ORPHA:79409 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
| Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma |
OMIM:619182 |
| Barrett Esophagus |
|
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux |
OMIM:614266 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Esophageal varix, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Metaphyseal widening, Cleft palat... |
ORPHA:440354 |
| Bronchogenic Cyst |
|
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology |
ORPHA:2357 |
| Pallister-Hall-Like Syndrome |
|
Death in infancy, Toe syndactyly, Median cleft lip, Micromelia, Postaxial hand polydactyly, Cleft... |
OMIM:241800 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Natal tooth, Sandal gap, Acantholysis, Widely spaced toes, Neonatal death, Mitten def... |
OMIM:609638 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
| Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
| Orofaciodigital Syndrome Iii |
|
Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxial foot polydactyly, Micr... |
OMIM:258850 |
| Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
| Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... |
OMIM:311900 |
| Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly |
OMIM:614526 |
| Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Limited elbow movement, Narrow mouth, Calcaneovalgus deformity, Elbow flexion con... |
OMIM:615065 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Narrow mouth, Mi... |
ORPHA:1307 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Avascular necrosis of the capital femoral epiphysis, Pyloric stenosis, Overlapping toe, Camptodac... |
OMIM:614262 |
| Auriculocondylar Syndrome 1 |
|
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... |
OMIM:602483 |
| 3P25.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fin... |
ORPHA:435638 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
| Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Pyloric stenosis, Small hand, Cleft palate, Short foot, High palate, Short philtrum, Narrow mouth... |
ORPHA:96184 |
| Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
| Epidermolysis Bullosa Simplex 2B, Generalized Intermediate |
|
Palmoplantar blistering |
OMIM:619588 |
| Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Esophageal stenosis, Oral leukoplakia, Abnormality of the dentition |
OMIM:616553 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy |
OMIM:615513 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Proximal placement of thumb, Absent radius, Esophageal atresia, Tracheoesophageal ... |
OMIM:314390 |
| Cholesteryl Ester Storage Disease |
|
Esophageal varix |
ORPHA:75234 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Intestinal... |
OMIM:613091 |
| Orofaciodigital Syndrome Type 2 |
|
Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tibia, Finger syn... |
ORPHA:2751 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Clinodactyly of the 5th finger, Pyloric stenosis, Talipes equinovarus, Tapered finger |
OMIM:617219 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Hyperextensibility of the finger joints, Glossoptosis, Cleft palate, Aggressive behavior |
OMIM:618356 |
| Solar Urticaria |
|
Abnormal lip morphology, Abnormal tongue morphology |
ORPHA:97230 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Intestinal malrotation, Hiatus hernia, Abnormality of the hume... |
ORPHA:2538 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Lymphadenopathy, Fluctuating splenomegaly |
OMIM:619220 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619164 |
| Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Esophageal atresia, Deviation of the 2nd finger, Orofacial cleft, ... |
ORPHA:1305 |
| Intrinsic Factor Deficiency |
|
Absence of intrinsic factor |
OMIM:261000 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Anteriorly plac... |
OMIM:619148 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:618982 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Polydact... |
ORPHA:59315 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Open bite, Abnormal palate morphology, Carious teeth, Congenital pyloric atresia |
ORPHA:2617 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
| Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula |
OMIM:615706 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Follicular hyperplasia |
OMIM:619846 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Postaxial polydactyly, Esophageal varix, Hyperkeratosis, Inflammation of the la... |
OMIM:614576 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
| Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Bifid u... |
OMIM:200990 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Death in infancy, Oral mucosal blisters, Esophageal atresia, Congenital pyloric atresia, Enamel h... |
OMIM:226730 |
| Mu-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100024 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Pyloric stenosis, Thin upper lip vermilion, High palate |
ORPHA:314575 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... |
ORPHA:263665 |
| Angelman Syndrome Due To A Point Mutation |
|
Protruding tongue, Abnormal eating behavior, Tongue thrusting, Wide mouth, Widely spaced teeth, I... |
ORPHA:411511 |
| Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Intestinal... |
OMIM:300963 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Esophageal atresia, Tracheoesophageal fistula, Talipes equinovarus, Neonatal death, Clinodactyly ... |
OMIM:619859 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Hammertoe, Talipes equinovarus, Tongue fasciculations, Tongue atrophy |
OMIM:601596 |
| Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Carious teeth, Palmoplantar hyperkeratosis, Gingivitis, Perio... |
OMIM:173650 |
| Trisomy 8Q |
|
Camptodactyly of finger, Non-midline cleft lip, Cleft palate, Orofacial cleft, Deep palmar crease... |
ORPHA:1752 |
| Immunodeficiency 12 |
|
Esophageal stricture, Clubbing, Cheilitis, Death in adolescence, Recurrent aphthous stomatitis |
OMIM:615468 |
| Alpha-Heavy Chain Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:100025 |
| Systemic Sclerosis |
|
Abnormal phalangeal joint morphology of the hand, Abnormal small intestine morphology, Abnormalit... |
ORPHA:90291 |
| Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis |
OMIM:179010 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
| Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, Aplasia of the pectoralis major muscle, Pierre-Robin sequence, ... |
ORPHA:1358 |
| Hypoglossia With Situs Inversus |
|
Microglossia, High palate, Hypodontia, Narrow mouth |
OMIM:612776 |
| Kleefstra Syndrome 1 |
|
Natal tooth, Single transverse palmar crease, Protruding tongue, Aggressive behavior, Persistence... |
OMIM:610253 |
| Hypoglossia-Hypodactylia |
|
Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia |
OMIM:103300 |
| Generalized Eruptive Histiocytosis |
|
Lymphadenopathy |
ORPHA:157991 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Restlessness, Hyperactivity, Thin upper lip vermilion, Aggressive behavior, Diastema, Furrowed to... |
OMIM:300534 |
| Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala... |
ORPHA:3241 |
| Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
| Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormal lymph node morphology |
ORPHA:543 |
| Down Syndrome |
|
Sandal gap, Bilateral single transverse palmar creases, Aganglionic megacolon, Protruding tongue,... |
ORPHA:870 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
OMIM:300853 |
| Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Esophageal stricture, Abnormality of the elbow, Palmoplantar hyperkeratosis |
ORPHA:158673 |
| Auriculocondylar Syndrome |
|
Dental crowding, Hamartoma of tongue, Narrow mouth, Mandibular condyle aplasia, Dental malocclusi... |
ORPHA:137888 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Long palm, Arachnodactyly, Aplasia/Hypoplasia of the tongue, Abnormality of the philtrum, Abnorma... |
ORPHA:2759 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... |
OMIM:618534 |
| Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of ... |
ORPHA:2908 |
| Orofaciodigital Syndrome Vi |
|
Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Accessory oral frenulum, Cleft... |
OMIM:277170 |
| Leiomyoma Of Vulva And Esophagus |
|
Esophageal obstruction |
OMIM:150700 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Drumstick terminal phalanges, Thin ve... |
OMIM:612938 |
| Immunodeficiency 52 |
|
Splenomegaly, Lymphadenopathy |
OMIM:617514 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, L... |
OMIM:615559 |
| Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Abnormal esophagus morphology, Gastroe... |
ORPHA:1018 |
| Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Cleft palate, Hand polydactyly, Ab... |
ORPHA:2167 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Esophageal stenosis, Downturned corners of mouth, Hyperkeratosis, Short philtrum, Dysphagia, Acha... |
OMIM:615510 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy |
OMIM:618987 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:613101 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Clubbing, Multiple gastric polyps, Hematochezia, Colon ... |
OMIM:174900 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Congenital shortened sma... |
OMIM:300048 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Lymphadenopathy |
OMIM:603552 |
| Fg Syndrome Type 1 |
|
Finger syndactyly, Limited elbow extension and supination, Broad toe, Dental crowding, Single tra... |
ORPHA:93932 |
| Developmental And Epileptic Encephalopathy 80 |
|
Death in infancy, Tented upper lip vermilion, Tapered finger, Protruding tongue, Wide mouth, High... |
OMIM:618580 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Esophageal varix |
OMIM:617341 |
| Pfapa Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Tongue fasciculations, Intrinsic hand muscle atrophy, Tongue atrophy |
OMIM:620285 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Arachnodactyly, Overlapping toe, Metatarsus adductus, Short thumb, High, narrow palate, Abnormal ... |
ORPHA:436003 |
| 9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Gastrointestinal dysmotility, Abnormal tongue morphology, Polydactyly |
ORPHA:531151 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Hyperactivity, Sandal gap, Broad hallux, Dental crowding, Aggressive be... |
OMIM:616078 |
| Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Short philtrum, Clinoda... |
ORPHA:1507 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Esophageal varix, Hepatocellular carcinoma |
OMIM:619463 |
| Immunodeficiency 27A |
|
Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly |
OMIM:209950 |
| Seckel Syndrome 2 |
|
Clinodactyly of the 5th finger, Microdontia, Microglossia |
OMIM:606744 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the tongue, Split hand, Hypoplas... |
ORPHA:958 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Pyloric stenosis, Small hand,... |
ORPHA:1001 |
| Psoriasis 14, Pustular |
|
Parakeratosis, Geographic tongue, Furrowed tongue |
OMIM:614204 |
| Non-Syndromic Posterior Hypospadias |
|
Esophageal atresia, Anal atresia, Cleft palate |
ORPHA:95706 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Abnormality of the dentition, Oral mucosal blisters, Hyperkeratosis, Palm... |
ORPHA:79399 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
| Wolman Disease |
|
Esophageal varix, Steatorrhea |
ORPHA:75233 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Thin upper lip vermilion, Bowing of the long bones, Toe syndactyly, Arachnodactyly, Sandal gap, C... |
ORPHA:261330 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis |
OMIM:615190 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Central Y-shaped metacarpal, Preaxial pol... |
ORPHA:2754 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Esophageal... |
ORPHA:974 |
| Opitz-Kaveggia Syndrome |
|
Dental crowding, Single transverse palmar crease, Anteriorly placed anus, Prominent fingertip pad... |
OMIM:305450 |
| Lelis Syndrome |
|
Carious teeth, Hypodontia, Palmoplantar hyperkeratosis, Furrowed tongue |
ORPHA:140936 |
| Cowden Syndrome 5 |
|
Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyposis, High ... |
OMIM:615108 |
| Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Tongue fasciculations, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:276198 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Smooth philtrum, Thin upper lip vermilion, Rhizomelia, Single transverse palmar crease, Narrow mo... |
OMIM:611209 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Esophageal varix, Gastrointes... |
ORPHA:131 |
| Otospondylomegaepiphyseal Dysplasia |
|
Short metacarpal, Sandal gap, Cleft palate, Tibial bowing, Glossoptosis, Fibular bowing, Limb und... |
ORPHA:1427 |
| Marden-Walker Syndrome |
|
Arachnodactyly, High, narrow palate, Pyloric stenosis, Narrow mouth, Cleft palate, Radioulnar syn... |
OMIM:248700 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Flared metaphysis, Glossoptosis, Delayed ossification of carpal bones, Aplasia/hyp... |
ORPHA:93346 |
| Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations, Dysphagia |
OMIM:614153 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Protruding tongue, Tongue thrusting, Wide mouth, Widely spaced teeth, Dysphagia |
ORPHA:98795 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Smooth philtrum, Single transverse palmar crease, Tapered finger, Protruding tongue, Broad palm, ... |
OMIM:617804 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Lymphadenopathy |
OMIM:212050 |
| Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Abnormality of primary teeth, Agenesis of pe... |
OMIM:257980 |
| Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly |
OMIM:612840 |
| Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation |
OMIM:277320 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Protruding tongue, Abnormal eating behavior, Tongue thrusting, Wide mouth, Widely ... |
ORPHA:98794 |
| Mulibrey Nanism |
|
Dental crowding, Single transverse palmar crease, Dental malocclusion, Hypodontia, Microglossia, ... |
OMIM:253250 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Tongue fasciculations |
OMIM:614678 |
| Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Postaxial hand polydactyl... |
ORPHA:2752 |
| Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip... |
OMIM:616367 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Macrodontia, Proximal placement of thumb, Protruding tongue, Coxa valga, Aggressive behavior, Dia... |
OMIM:212066 |
| Caspase 8 Deficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:607271 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Tented upper lip vermilion, Overlapping toe, Single transverse palmar crease, ... |
ORPHA:464738 |
| Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Aplasia/Hypoplasia of the tongue, Tapered finger, ... |
ORPHA:193 |
| Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia, Absent thumb |
OMIM:615272 |
| Acrodermatitis Enteropathica |
|
Anorexia, Malabsorption, Abnormality of the tongue, Cheilitis, Furrowed tongue, Glossitis |
ORPHA:37 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Rhizomelia, Postaxial polydactyly, Hamartoma of tongue, Cleft lip, Preaxial polydact... |
OMIM:616300 |
| Ring Chromosome 22 Syndrome |
|
Protruding tongue, 2-3 toe syndactyly, Large hands, Inappropriate behavior, Thick vermilion border |
ORPHA:1446 |
| Distal Deletion 12Q |
|
Single transverse palmar crease, High, narrow palate, Aplasia/Hypoplasia of the middle phalanx of... |
ORPHA:96149 |
| Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis |
ORPHA:664 |
| Apert Syndrome |
|
Limited elbow movement, Cutaneous finger syndactyly, Broad distal phalanx of the thumb, Bifid uvu... |
OMIM:101200 |
| Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Tapered finger, Abnormal thumb morp... |
ORPHA:1452 |
| Cowden Syndrome 6 |
|
Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyposis, High ... |
OMIM:615109 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Cleft lip, Prea... |
OMIM:617925 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Single transverse palmar crease, Protruding tongue, Submucous cleft hard palate,... |
OMIM:618106 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Generalized lymphadenopathy |
OMIM:620282 |
| Myopathy, Myofibrillar, 7 |
|
Tongue atrophy, Elbow flexion contracture, Talipes equinovarus, Dysphagia |
OMIM:617114 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop... |
ORPHA:480536 |
| Classic Mycosis Fungoides |
|
Splenomegaly, Lymphadenopathy |
ORPHA:2584 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Lymphadenopathy |
OMIM:611762 |
| Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis |
ORPHA:2221 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Proximal placement of thumb, Preaxial hand polydactyly, Esophageal atresia, Deep philtrum, Cleft ... |
OMIM:610536 |
| 9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
| Hartnup Disease |
|
Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
| Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... |
ORPHA:3392 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Absence of lymph node germinal center |
ORPHA:277 |
| Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:397596 |
| Orofaciodigital Syndrome Type 1 |
|
Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal dental... |
ORPHA:2750 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of perman... |
OMIM:616894 |
| Septo-Optic Dysplasia Spectrum |
|
Esophageal atresia, Polydipsia, Tracheoesophageal fistula, Cleft palate |
ORPHA:3157 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma |
ORPHA:64743 |
| Orofaciodigital Syndrome I |
|
Syndactyly, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary ... |
OMIM:311200 |
| Glycogen Storage Disease Iv |
|
Esophageal varix |
OMIM:232500 |
| Apert Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Mi... |
ORPHA:87 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention deficit hyperact... |
OMIM:619580 |
| Hereditary Folate Malabsorption |
|
Glossitis, Gastroesophageal reflux, Cheilitis, Anorexia |
ORPHA:90045 |
| Schnitzler Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:37748 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Short palm, Duplication of the distal phalanx of han... |
OMIM:268310 |
| Methimazole Embryofetopathy |
|
Esophageal atresia, Tracheoesophageal fistula |
ORPHA:1923 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Pyloric stenosis, Elbow flexion contracture, Tongue fasciculations, Dysphagia |
OMIM:619461 |
| Fanconi Anemia, Complementation Group B |
|
Death in infancy, Absent thumb, Esophageal atresia, Tracheoesophageal fistula, Bilateral radial a... |
OMIM:300514 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Carious teeth, Esophageal stricture, Palmoplantar hyperkeratosis, Microdontia, Oral leukoplakia |
OMIM:224230 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Tongue atrophy, Dysphagia, Tongue fasciculations, Death in childhood |
OMIM:211530 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Attention deficit hyp... |
OMIM:619227 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, 2-3 toe syndactyly, Cleft palate, Fu... |
OMIM:616449 |
| Tetraamelia Syndrome 2 |
|
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate |
OMIM:618021 |
| Kinsship Syndrome |
|
Thin upper lip vermilion, Death in infancy, Single transverse palmar crease, Coxa valga, Abnormal... |
OMIM:619297 |
| Pleural Mesothelioma |
|
Lymphadenopathy |
ORPHA:50251 |
| Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
| Immunodeficiency 105 |
|
Hepatosplenomegaly, Absence of lymph node germinal center |
OMIM:619924 |
| Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip and palate, Median cleft lip, Intestinal malrotation, Hamartoma of ... |
OMIM:269860 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Esophageal varix, Brachydactyly |
OMIM:616028 |
| Classic Hodgkin Lymphoma |
|
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
| Melkersson-Rosenthal Syndrome |
|
Macroglossia, Cheilitis, Furrowed tongue |
ORPHA:2483 |
| Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Pyloric s... |
ORPHA:3138 |
| Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Tibial bowing, Femoral bowing, Smooth tongue, Short tibia, Short... |
OMIM:601559 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Proximal phalangeal periosteal thickening, Gastric hypertrophy, Clubbing, Osteolytic defects of t... |
OMIM:161700 |
| Aspergillosis |
|
Abnormal esophagus morphology |
ORPHA:1163 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture |
OMIM:620133 |
| Esophageal Atresia |
|
Barrett esophagus, Intestinal malrotation, Pyloric stenosis, Gastrointestinal dysmotility, Anorec... |
ORPHA:1199 |
| Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia |
ORPHA:779 |
| Maternal Phenylketonuria |
|
Hyperactivity, Bifid distal phalanx of the thumb, Esophageal atresia, High palate, Long philtrum,... |
ORPHA:2209 |
| Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger, Elbow disloca... |
ORPHA:90652 |
| Congenital Toxoplasmosis |
|
Lymphadenopathy |
ORPHA:858 |
| Pelvis-Shoulder Dysplasia |
|
Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel... |
ORPHA:2839 |
| Mandibuloacral Dysplasia |
|
Dental crowding, Abnormal tongue morphology, Hypoplasia of teeth, High palate, Osteolytic defects... |
ORPHA:2457 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Orofacial cleft, Downturned corners of mouth, High palat... |
OMIM:180700 |
| Angelman Syndrome |
|
Abnormality of the gastrointestinal tract, Hyperactivity, Protruding tongue, Aggressive behavior,... |
ORPHA:72 |
| Familial Melanoma |
|
Neoplasm of the stomach |
ORPHA:618 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:150550 |
| Koolen-De Vries Syndrome |
|
Arachnodactyly, Abnormal dental enamel morphology, Abnormality of the dentition, High, narrow pal... |
ORPHA:96169 |
| Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Arachnodactyly, Dental crowding, Anorexia, Esophageal varix, Genu va... |
ORPHA:394 |
| Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Lymphadenopathy |
OMIM:618495 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Pectoralis hypoplasia, High pa... |
OMIM:254940 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Submucous ... |
OMIM:608670 |
| Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pi... |
ORPHA:2886 |
| Feingold Syndrome Type 1 |
|
Toe syndactyly, Jejunal atresia, Short middle phalanx of the 2nd finger, Short thumb, 4-5 toe syn... |
ORPHA:391641 |
| Agnathia-Otocephaly Complex |
|
Microglossia, Aglossia, Cleft palate, Narrow mouth |
OMIM:202650 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia of the distal... |
ORPHA:364577 |
| Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the gastrointestinal tract, Finger syndactyly, Camptodactyly of finger, Premature ... |
ORPHA:2907 |
| Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Anal stenosis, Aganglionic megacolon, Malabsorption, Esophageal atresia, M... |
OMIM:250250 |
| Fryns Syndrome |
|
Meckel diverticulum, Tented upper lip vermilion, Aganglionic megacolon, Single transverse palmar ... |
OMIM:229850 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Talipes equinovarus, Stomatitis... |
OMIM:277380 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Conical tooth, Cleft upper lip, Short thumb, Pyloric stenosis... |
OMIM:263750 |
| Muir-Torre Syndrome |
|
Neoplasm of the liver, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm |
ORPHA:587 |
| Coach Syndrome 1 |
|
Wide mouth, Postaxial hand polydactyly, Esophageal varix |
OMIM:216360 |
| Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Lymphadenopathy |
OMIM:607594 |
| Immunodeficiency 54 |
|
Splenomegaly, Lymphadenopathy |
OMIM:609981 |
| Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Cleft palate, Narrow mouth, Bifid uvula |
ORPHA:1790 |
| Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
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Esophageal stricture, Oral leukoplakia, Palmoplantar hyperkeratosis, Abnormality of the dentition |
OMIM:613989 |
| Dyskeratosis Congenita |
|
Esophageal stenosis, Malabsorption, Abnormality of the dentition, Carious teeth, Anorectal anomal... |
ORPHA:1775 |
| Benign Schwannoma |
|
Intestinal polyposis, Abnormal esophagus morphology, Abnormal parotid gland morphology, Abnormal ... |
ORPHA:252164 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:329971 |
| Raine Syndrome |
|
Natal tooth, Bowing of the long bones, Death in infancy, Micromelia, Protruding tongue, Gingival ... |
OMIM:259775 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Tongue atrophy, R... |
ORPHA:101085 |
| Indolent Systemic Mastocytosis |
|
Splenomegaly, Lymphadenopathy |
ORPHA:98848 |
| Kleefstra Syndrome |
|
Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's bow, Aggressive behavi... |
ORPHA:261494 |
| Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Enamel hypoplasia, Ankylog... |
OMIM:618874 |
| Catel-Manzke Syndrome |
|
Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Cleft upper lip, N... |
OMIM:616145 |
| Cowden Syndrome 1 |
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Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyposis, High ... |
OMIM:158350 |
| Van Esch-O'Driscoll Syndrome |
|
Impulsivity, Esophageal atresia, Tracheoesophageal fistula, Downturned corners of mouth, Wide mou... |
OMIM:301030 |
| Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum morphology, Intussusc... |
ORPHA:512 |
| Gracile Bone Dysplasia |
|
Death in infancy, Ankyloglossia, Flared metaphysis, Brachydactyly |
OMIM:602361 |
| Heme Oxygenase 1 Deficiency |
|
Asplenia, Cervical lymphadenopathy, Lymphadenopathy |
OMIM:614034 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Macroglossia, Malabsorption, Protruding tongue |
OMIM:242860 |
| 1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short foot, Hand polydactyly, High palate, Foot polydactyly... |
ORPHA:250989 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
U-Shaped upper lip vermilion, Coxa valga, Tapered finger, Protruding tongue, Diastema, Thick lowe... |
OMIM:301040 |
| Pallister-Hall Syndrome |
|
Syndactyly, Natal tooth, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, ... |
OMIM:146510 |
| Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Coxa valga, Narrow mouth, Gingival overgrowth, Dysphagia, Limb undergrowth |
OMIM:230600 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:619375 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Aglossia |
OMIM:241310 |
| Cousin Syndrome |
|
Rhizomelia, 4-5 toe syndactyly, Humeroradial synostosis, Microglossia, 2-3 toe syndactyly, Cleft ... |
OMIM:260660 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Aggressive behavior, Pyloric stenosis, Submucous cleft hard palate, Hig... |
ORPHA:457279 |
| Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, High, narrow palate, Do... |
OMIM:122470 |
| Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
| Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Gastroesophageal reflux, Widely spaced teeth, Short 4th toe, Co... |
OMIM:615873 |
| Cholesteryl Ester Storage Disease |
|
Death in infancy, Esophageal varix, Steatorrhea |
OMIM:278000 |
| Icf Syndrome |
|
Macroglossia, Malabsorption, Protruding tongue |
ORPHA:2268 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Elbow flexion contracture, Furrowed tongue, Hyperkeratosis, Microdontia, Oral leukoplakia |
OMIM:148210 |
| Feingold Syndrome 1 |
|
Jejunal atresia, Short thumb, Short toe, 4-5 toe syndactyly, Esophageal atresia, 2-3 toe syndacty... |
OMIM:164280 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Follicular hyperplasia |
OMIM:614470 |
| Fanconi Anemia, Complementation Group L |
|
Absent thumb, Absent radius, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Bilater... |
OMIM:614083 |
| Angelman Syndrome |
|
Hyperactivity, Protruding tongue, Wide mouth, Macroglossia, Widely spaced teeth, Paroxysmal burst... |
OMIM:105830 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
