| Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
| Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
| Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Polyposis, gastric |
|
Multiple gastric polyps |
OMIM:175020 |
| Lymphoma, Mucosa-Associated Lymphoid Type |
|
Gastric lymphoma |
OMIM:137245 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
| Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Cheilitis Glandularis |
|
Thick lower lip vermilion, Abnormal salivary gland morphology |
ORPHA:1221 |
| Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections |
OMIM:308220 |
| Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Van Der Woude Syndrome |
|
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... |
ORPHA:888 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Atrophic gastritis, Cleft upper lip, Cleft palate, Stomach cancer |
OMIM:137215 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... |
OMIM:310468 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
| Periodontal Ehlers-Danlos Syndrome |
|
Gingival overgrowth, Periodontitis, Hypermelanotic macule, Micrognathia, Agenesis of permanent te... |
ORPHA:75392 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:300511 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
| Elastosis Perforans Serpiginosa |
|
Cutis laxa, Skin-colored papule, Serpiginous cutaneous lesion, Annular cutaneous lesion, Skin pla... |
ORPHA:79148 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
| Premature Ovarian Failure 15 |
|
Oligomenorrhea |
OMIM:618096 |
| Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis |
OMIM:614196 |
| Granulomatous Slack Skin |
|
Cutis laxa, Redundant skin, Erythema, Acute kidney injury, Nephrocalcinosis |
ORPHA:33111 |
| Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
| Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
| Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia, Horseshoe kidney, Thin skin, Increased urinary 8-oxo-7,8-dihydro... |
OMIM:613630 |
| Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infections, Recu... |
OMIM:611521 |
| Kimura Disease |
|
Abnormal salivary gland morphology |
ORPHA:482 |
| 2p15-16.1 microdeletion syndrome |
|
Camptodactyly of finger, Hydronephrosis |
DECIPHER:70 |
| Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
| Myelolymphatic Insufficiency |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:310350 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections |
OMIM:613796 |
| Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Premature loss of teeth, Periodontitis, Soft skin, Palmoplantar cutis laxa, Gingival bleeding, Gi... |
OMIM:130080 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections |
OMIM:242870 |
| Elastoderma |
|
Cutis laxa, Premature skin wrinkling, Eczema, Erysipelas, Papule, Skin nodule |
ORPHA:228240 |
| Ring Chromosome 8 Syndrome |
|
Abnormal palate morphology, Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
| Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Bifid uvula, Hydronephrosis |
ORPHA:2669 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
| Dermoodontodysplasia |
|
Dry skin, Hypodontia, Thin skin |
OMIM:125640 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Hypodontia, Abnormality of the dentition, Eczema, Premature loss of primary teeth, Thin skin, Thi... |
ORPHA:1810 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
| Nephronophthisis 1 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... |
OMIM:256100 |
| Amyloidosis, Finnish Type |
|
Nephrotic syndrome, Renal insufficiency, Cutis laxa |
OMIM:105120 |
| 6P22 Microdeletion Syndrome |
|
Abnormal palate morphology, Redundant skin, Patent ductus arteriosus, Hydronephrosis |
ORPHA:251046 |
| Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Molluscoid pseudotumors, Soft, doughy skin, Subcutaneous spheroids, Soft skin, Recurrent sinusiti... |
OMIM:130010 |
| Congenital Primary Megaureter |
|
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... |
ORPHA:617 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Dental malocclusion, Hypodontia, Joint contracture of the hand, Camptodactyly of fin... |
OMIM:612350 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
| Growth Factors, Combined Defect Of |
|
Narrow mouth, Flexion contracture, Micrognathia, Thin skin, Dermal atrophy |
OMIM:233805 |
| Nephronophthisis 4 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... |
OMIM:606966 |
| Alport Syndrome |
|
Nephrotic syndrome, Renal glomerular foam cells, Mesangial hypercellularity, Nephritis, Thickenin... |
ORPHA:63 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Premature loss of primary teeth, Dry skin, Microdontia, Widely spaced teeth, Thin skin |
OMIM:617364 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:617805 |
| Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Duodenal ulcer, St... |
ORPHA:263665 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... |
OMIM:613496 |
| Absence Of Fingerprints-Congenital Milia Syndrome |
|
Camptodactyly of finger, Milia, Thin skin, Skin rash |
ORPHA:1658 |
| X-Linked Intellectual Disability, Schimke Type |
|
High palate, Hip contracture, Elbow flexion contracture, Knee flexion contracture, Hydronephrosis... |
ORPHA:85285 |
| Acrogeria |
|
Excessive wrinkled skin, Micrognathia, Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer |
ORPHA:2500 |
| Dermoodontodysplasia |
|
Tooth agenesis, Microdontia, Dry skin, Thin skin, Melanocytic nevus, Mandibular prognathia |
ORPHA:1660 |
| Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Redundant skin, Increased number of skin folds, Cutis laxa, Papule |
ORPHA:436274 |
| Nephronophthisis 3 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... |
OMIM:604387 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Narrow mouth, Flexion contracture, Cutis laxa, Gingivitis, Atypical scarring of skin, Thin skin, ... |
ORPHA:75496 |
| Oculogastrointestinal Muscular Dystrophy |
|
Malabsorption, Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Spo... |
ORPHA:1876 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Micrognathia, Hypospadias, Cutis laxa |
OMIM:301045 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:618913 |
| Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Abnormal tubulointerstitial morphology, Chronic kidney disease, Nephropathy |
OMIM:602114 |
| Macdermot-Winter Syndrome |
|
Camptodactyly of finger, Hydronephrosis |
OMIM:247990 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephrotic syndrome, Petechiae, Renal tubular atrophy, Decreased glomerular filtration rate, Renal... |
ORPHA:85450 |
| Prolidase Deficiency |
|
Micrognathia, Erythema, Dry skin, Papule, Carious teeth, Aplasia/Hypoplasia of the skin, Hypoplas... |
ORPHA:742 |
| Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Tubulointerstitial fibrosis |
OMIM:232500 |
| Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the dentition, Eczema, Abnormal pigmentation of the oral mucosa, Skin ulcer, Ankyl... |
ORPHA:2907 |
| Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Stomach can... |
ORPHA:2494 |
| Myopathy, Congenital, Progressive, With Scoliosis |
|
High palate, Facial hypotonia, Micrognathia, Hydronephrosis, Renal atrophy, Congenital contractur... |
OMIM:618578 |
| Gapo Syndrome |
|
Eruption failure, High, narrow palate, Abnormality of the dentition, Epidermoid cyst, Micrognathi... |
OMIM:230740 |
| Dent Disease |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... |
ORPHA:1652 |
| Weaver Syndrome |
|
Hypoplasia of penis, Retrognathia, Micrognathia, Camptodactyly of finger, Redundant skin, Long ph... |
ORPHA:3447 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
| Cd8 Deficiency, Familial |
|
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:608957 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
High palate, Congenital diaphragmatic hernia, Soft skin, Hypospadias, Carious teeth, Camptodactyl... |
OMIM:617602 |
| Variant Abeta2M Amyloidosis |
|
Gastrointestinal infarctions, Intestinal perforation, Abnormality of the tongue, Abnormal salivar... |
ORPHA:314652 |
| Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
| Brooke-Spiegler Syndrome |
|
Abnormality of the sublingual glands, Salivary gland neoplasm, Abnormality of the submandibular g... |
ORPHA:79493 |
| Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis |
ORPHA:2978 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Aplasia of the bladder, Aplasia cutis congenita on trunk or limbs, Oral mucosal blisters, Skin er... |
ORPHA:158684 |
| Arthrochalasia Ehlers-Danlos Syndrome |
|
Retrognathia, Micrognathia, Hyperextensible skin, Thin skin |
ORPHA:1899 |
| Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Tooth agenesis, Nephrotic syndrome, Abnormality of the dentition, Eczema, Dry skin, Hy... |
ORPHA:238468 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hyperextensible skin, Thin skin, Flexion contracture, Thenar muscle atrophy |
ORPHA:157965 |
| Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... |
OMIM:266900 |
| Focal Dermal Hypoplasia |
|
Abnormal dental enamel morphology, Macule, Diastasis recti, Tooth agenesis, Renal hypoplasia/apla... |
ORPHA:2092 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis |
OMIM:618270 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Tubulointerstitial fibrosis, Enlarged kidney, ... |
OMIM:263200 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Skeletal muscle hypertrophy, Xanthomatosis, Advanced eruption of teeth, Abnormality... |
ORPHA:2348 |
| Autosomal Dominant Deafness-Onychodystrophy Syndrome |
|
Abnormality of the dentition, Oligodontia, Aplasia cutis congenita, Small, conical teeth |
ORPHA:79499 |
| Kosaki Overgrowth Syndrome |
|
Hyperextensible skin, Thin upper lip vermilion, Thin skin |
OMIM:616592 |
| Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Preauricular pit, Preauricular skin tag, Abnormal localization of kidne... |
ORPHA:195 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Aplasia/Hypoplasia of the skin, Macule, Dermal atrophy |
ORPHA:1962 |
| Gastric Volvulus, Intrathoracic |
|
Hiatus hernia, Volvulus |
OMIM:137210 |
| Renal Hypoplasia |
|
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... |
ORPHA:93101 |
| Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Redundant skin, Cutis laxa, Papule |
ORPHA:91135 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Cleft palate, Micrognathia, Hydronephrosis, Arthrogryposis multiplex congenita, Vesicoureteral re... |
OMIM:618265 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Petechiae, Atypical scarring of skin, Striae distensae, Thin skin, Hyperextensible skin |
OMIM:225310 |
| 19Q13.11 Microdeletion Syndrome |
|
Wide mouth, Retrognathia, Thin vermilion border, Hypospadias, Dry skin, Solitary median maxillary... |
ORPHA:217346 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Abnormality of the upper urinary tract, Short philtrum, Redundant skin, Aplasia/Hypoplasia of the... |
ORPHA:1807 |
| Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Fundic gland polyposis, Melena, Gastric adenocarcinoma |
OMIM:619182 |
| Rapp-Hodgkin Syndrome |
|
Cleft upper lip, Narrow mouth, Recurrent otitis media, Velopharyngeal insufficiency, Hypodontia, ... |
OMIM:129400 |
| Dysmorphism-Cleft Palate-Loose Skin Syndrome |
|
Micrognathia, Redundant skin, Cleft palate |
ORPHA:1779 |
| X-Linked Ehlers-Danlos Syndrome |
|
Hyperextensible skin, Thin skin |
ORPHA:75497 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:613944 |
| Distal Trisomy 6P |
|
Narrow mouth, Thin vermilion border, Micrognathia, Abnormality of the urinary system, Dry skin, R... |
ORPHA:1745 |
| Muir-Torre Syndrome |
|
Neoplasm of the liver, Salivary gland neoplasm, Adenoma sebaceum, Colon cancer, Neoplasm of the s... |
ORPHA:587 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Abnormal glomerular mesangium... |
ORPHA:567544 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Ileitis, Gastritis, Pancolitis, Protein-losing enteropathy, Esophagitis, Duodenitis, Abnormal int... |
OMIM:619079 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Supernumerary tooth, Abnormality of the dentition, Redundant skin, Recurrent urinary tract infect... |
ORPHA:502 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Hyperextensible skin, Distal lower limb muscle weakness, Distal upper limb amyotrophy, Distal low... |
OMIM:619764 |
| 8P23.1 Duplication Syndrome |
|
Thick vermilion border, Long philtrum, Hydronephrosis |
ORPHA:251076 |
| Chromosome 18P Deletion Syndrome |
|
High palate, Tooth malposition, Micropenis, Micrognathia, Redundant neck skin |
OMIM:146390 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Purpura, Proteinuria, Stage 5 chronic kid... |
OMIM:161950 |
| Cranioectodermal Dysplasia 4 |
|
Taurodontia, Cutis laxa, Thin vermilion border, Recurrent pneumonia, Stage 5 chronic kidney disea... |
OMIM:614378 |
| Scarf Syndrome |
|
Diastasis recti, Cutis laxa, Micropenis, Long philtrum, Enamel hypoplasia, Hypocalcification of d... |
ORPHA:3134 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Thin vermilion border, Micrognathia, Short philtrum, Skin dimple, Thin skin |
ORPHA:261304 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Global glomerulosclerosis, Decreased glomerular filtration rate, Reduced renal corticomedullary d... |
OMIM:602522 |
| Tetraploidy |
|
Renal hypoplasia/aplasia, Cleft palate, Micrognathia, Short philtrum, Preauricular skin tag, Hydr... |
ORPHA:3305 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Erythema, Erythematous plaque, Milia, Thin skin, Crusting erythematous dermatitis, Dermal atrophy |
ORPHA:158673 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Soft skin, Hyperextensible skin, Thin skin, Atrophic scars |
OMIM:225320 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Unilateral renal agenesis, Cutis laxa, Premature skin wrinkling |
OMIM:616603 |
| Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Congenital absence of skin of limbs, Aplasia cutis congenita |
OMIM:600360 |
| Macs Syndrome |
|
High palate, Gingival overgrowth, Cutis laxa, Soft skin, Eclabion, Micrognathia, Redundant skin, ... |
OMIM:613075 |
| Familial Cervical Artery Dissection |
|
Facial palsy, Striae distensae, Thin skin |
ORPHA:36382 |
| Orofaciodigital Syndrome Xv |
|
Hydronephrosis, Lobulated tongue |
OMIM:617127 |
| Renal Failure, Progressive, With Hypertension |
|
Nephritis, Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease |
OMIM:161900 |
| Vesicoureteral Reflux 3 |
|
Hydroureter, Vesicoureteral reflux, Hydronephrosis |
OMIM:613674 |
| Silver-Russell Syndrome 2 |
|
Downturned corners of mouth, Micrognathia, Thin skin |
OMIM:618905 |
| Juvenile Hyaline Fibromatosis |
|
Gingival overgrowth, Gingival fibromatosis, Papule, Aplasia/Hypoplasia of the skin, Progressive f... |
ORPHA:2028 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Purpura, Thin skin |
ORPHA:743 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Nephrolithiasis, Facial erythema, Purpura, Striae distensae, Thin skin, Ecchymosis, Skeletal musc... |
OMIM:219090 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Cleft palate, Retrognathia, Microdontia, Dry skin, Hypoplasia of the zygomat... |
ORPHA:1812 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Widely spaced teeth, Patent ductus arteriosus, Hydronephrosis, Thick l... |
OMIM:619797 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
High palate, Nephrolithiasis, Narrow mouth, Microretrognathia, Cleft palate, Recurrent skin infec... |
ORPHA:2953 |
| Recombinant Chromosome 8 Syndrome |
|
Gingival overgrowth, Joint contracture of the hand, Malar flattening, Abnormality of the dentitio... |
OMIM:179613 |
| Regional Odontodysplasia |
|
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... |
ORPHA:83450 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Cutis laxa, Retrognathia, Eczema, Long philtrum, Thin upper lip vermilion |
OMIM:619691 |
| Hinman Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... |
ORPHA:84085 |
| Rafiq Syndrome |
|
Malar flattening, Flexion contracture, Cutis laxa, Short philtrum, Thin upper lip vermilion, Smoo... |
OMIM:614202 |
| Cranioectodermal Dysplasia 3 |
|
Nephronophthisis, Everted lower lip vermilion, Cutis laxa, Micrognathia, Dry skin, Widely spaced ... |
OMIM:614099 |
| Dysmyelination With Jaundice |
|
Hydroureter, Hypoplasia of penis, Hydronephrosis |
OMIM:224250 |
| Urofacial Syndrome 2 |
|
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... |
OMIM:615112 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrolithiasis, Thyroiditis, Periodontitis, Pancreatitis, Enterocolitis, Gout, Inflammation of t... |
ORPHA:79259 |
| Immunodeficiency 49 |
|
Inflammatory abnormality of the skin, Cutis laxa, Micrognathia, Short philtrum, Natal tooth |
OMIM:617237 |
| Posterior Urethral Valve |
|
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Retrognathia, Recurrent urinary trac... |
ORPHA:93110 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
| Porokeratosis Of Mibelli |
|
Aplasia/Hypoplasia of the skin, Pruritus |
ORPHA:735 |
| Salivary Duct Calculi |
|
Parotitis |
OMIM:181010 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Recurrent otitis media, High, narrow palate, Cleft palate, Renal agenesis, Long philtrum, Renal h... |
OMIM:618494 |
| Ulerythema Ophryogenesis |
|
Dry skin, Facial erythema, Contact dermatitis, Erythematous papule, Acne, Hyperkeratotic papule, ... |
ORPHA:3406 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Cleft upper lip, High palate, Cleft palate, Micrognathia, Solitary median maxillary central incis... |
OMIM:602418 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Aplasia/Hypoplasia of the skin, Purpura, Thin skin |
ORPHA:745 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
High palate, Cleft palate, Micrognathia, Left ventricular hypertrophy, Hypospadias, Camptodactyly... |
OMIM:611209 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Hypopigmented skin patches on arms, Hypermelanotic macule, Juvenile rheumatoid arthritis, Rheumat... |
OMIM:607944 |
| Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
| Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Hyperextensible skin, Excessive skin wrinkling on dorsum of hands and fingers, Decreased muscle m... |
OMIM:608763 |
| Xanthinuria, Type I |
|
Xanthinuria, Hydronephrosis, Myopathy, Pyelonephritis, Xanthine nephrolithiasis |
OMIM:278300 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cleft palate, Everted lower lip vermilion, Hypospadias, Short philtrum, Tented upper lip vermilio... |
OMIM:616449 |
| Agel Amyloidosis |
|
Cutis laxa, Dry skin, Keratoconjunctivitis sicca, Diffuse skin atrophy, Proteinuria, Pruritus, To... |
ORPHA:85448 |
| Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Aplasia of the bladder, Oral mucosal blisters, Ureterocele, Recurrent skin infections, Renal dupl... |
ORPHA:79403 |
| Glass Syndrome |
|
High palate, Narrow mouth, Cleft palate, Malar flattening, Micrognathia, Oligodontia, Camptodacty... |
OMIM:612313 |
| Bor Syndrome |
|
Renal hypoplasia/aplasia, Cleft palate, Retrognathia, Multicystic kidney dysplasia, Preauricular ... |
ORPHA:107 |
| Arima Syndrome |
|
Wide mouth, Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Polycystic kidn... |
OMIM:243910 |
| Bohring-Opitz Syndrome |
|
Cleft upper lip, Narrow mouth, Narrow palate, Flexion contracture, Cutis laxa, Retrognathia, Micr... |
OMIM:605039 |
| Zaki Syndrome |
|
High palate, Wide mouth, Congenital diaphragmatic hernia, Renal agenesis, Micrognathia, Short phi... |
OMIM:619648 |
| Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract infections, Hydronephrosis, ... |
OMIM:191800 |
| Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
|
Narrow mouth, Malar flattening, Short philtrum, Ureteral duplication, Bifid ureter, Thin skin, In... |
OMIM:601347 |
| Short Syndrome |
|
Dental malocclusion, Hypodontia, Micrognathia, Delayed eruption of teeth, Downturned corners of m... |
OMIM:269880 |
| Premature Ovarian Failure 5 |
|
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... |
OMIM:611548 |
| Lethal Congenital Contracture Syndrome 2 |
|
Micrognathia, Hydronephrosis, Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
OMIM:607598 |
| Systemic Lupus Erythematosus 16 |
|
Nephritis |
OMIM:614420 |
| Amyloidosis, Primary Localized Cutaneous, 1 |
|
Dry skin, Scaling skin, Cutis laxa, Pruritus |
OMIM:105250 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Narrow mouth, Thin skin, Cutis laxa |
OMIM:219150 |
| Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Oral mucosal blisters, Skin erosion, Carious teeth, Milia, Atrophic scars, Aplasia cutis congenita |
ORPHA:79411 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Hyperextensible skin, Skeletal muscle atrophy, Thin skin |
ORPHA:230839 |
| Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, High, narrow palate, Flexion contracture, Joint contracture of the h... |
ORPHA:536516 |
| Hereditary Xanthinuria |
|
Crystalluria, Rheumatoid arthritis, Recurrent urinary tract infections, Xanthinuria, Hematuria, G... |
ORPHA:3467 |
| Man1B1-Cdg |
|
Malar flattening, Cutis laxa, Eclabion, Short philtrum, Thick vermilion border, Multiple cafe-au-... |
ORPHA:397941 |
| Branchio-Oculo-Facial Syndrome |
|
High palate, Postauricular pit, Tooth agenesis, Everted lower lip vermilion, Renal agenesis, Supr... |
ORPHA:1297 |
| Suleiman-El-Hattab Syndrome |
|
High palate, Wide mouth, Blue nevus, Microretrognathia, Long philtrum, Preauricular skin tag, Dow... |
OMIM:618950 |
| Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Abnormality of the diaphragm, Ureteral atresia, Hydronephrosis |
OMIM:183802 |
| Progeroid Syndrome, Petty Type |
|
Tooth agenesis, Cutis laxa, Everted lower lip vermilion, Redundant skin, Shagreen patch, Mandibul... |
ORPHA:2963 |
| Aldh18A1-Related De Barsy Syndrome |
|
Hyperextensible skin |
ORPHA:35664 |
| Axenfeld-Rieger Syndrome |
|
Hypodontia, Everted lower lip vermilion, Hypospadias, Redundant skin, Microdontia, Hypoplasia of ... |
ORPHA:782 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
| Williams-Beuren Region Duplication Syndrome |
|
High palate, Unilateral renal agenesis, Micrognathia, Short philtrum, Diastema, Chronic otitis me... |
OMIM:609757 |
| Urofacial Syndrome 1 |
|
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... |
OMIM:236730 |
| Scarf Syndrome |
|
Diastasis recti, Cutis laxa, Micropenis, Long philtrum, Enamel hypoplasia, Webbed neck, Perineal ... |
OMIM:312830 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Arthrogrypos... |
OMIM:236500 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
High palate, Long philtrum, Cutis laxa, Thick lower lip vermilion |
OMIM:619451 |
| Renal Hypodysplasia/Aplasia 2 |
|
Redundant skin |
OMIM:615721 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Chordee, Cutis laxa, Abnormality of the dentition, Micrognathia, Hypospadias, Elbow flexion contr... |
OMIM:151050 |
| Atrophoderma Vermiculata |
|
Skin pit, Erythema, Hypoplastic pilosebaceous units, Periauricular skin pits, Pruritus, Atrophic ... |
ORPHA:79100 |
| Adult Syndrome |
|
Hypodontia, Oligodontia, Eczema, Microdontia, Dry skin, Oral cleft, Premature loss of permanent t... |
OMIM:103285 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Taurodontia, Hypodontia, Everted lower lip vermilion, Soft skin, Eczema, Periorbital wrinkles, Mi... |
OMIM:305100 |
| C Syndrome |
|
High palate, Wide mouth, Accessory oral frenulum, Renal cortical cysts, Cutis laxa, Micrognathia,... |
OMIM:211750 |
| Trisomy 17P |
|
High palate, Wide mouth, Narrow mouth, Hypoplasia of penis, Cleft palate, Macroglossia, Malar fla... |
ORPHA:261290 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Flexion contracture, Cutis laxa, Thin vermilion border, Excessive wrinkled skin, Elbow flexion co... |
OMIM:614438 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal penis morphology, Dry skin, Thin skin, Subcutaneous nodule, Multiple cafe-au-lait spots |
ORPHA:457059 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Bladder diverticulum, Mollu... |
OMIM:225400 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Redundant skin |
OMIM:301021 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Nephrolithiasis, Striae distensae, Thin skin, Acne, Increased urinary cortisol level, Proximal am... |
ORPHA:189439 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Gingival overgrowth, Gingival hyperkeratosis, Hypodontia, Recurrent mandibular subluxations, Ever... |
OMIM:225410 |
| Mandibuloacral Dysplasia |
|
High palate, Dental crowding, Micrognathia, Contractures of the large joints, Thin skin, Abnormal... |
ORPHA:2457 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
High palate, Tendon rupture, Soft, doughy skin, Left ventricular hypertrophy, Thin skin, Atrophic... |
ORPHA:230851 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Bladder diverticulum, Malar flattening, Cutis laxa, Retrognathia, Micrognathia, Long philtrum, Hy... |
OMIM:613177 |
| Fanconi Anemia, Complementation Group O |
|
Small thenar eminence, Renal cyst, Hydronephrosis, Stage 5 chronic kidney disease |
OMIM:613390 |
| Geroderma Osteodysplastica |
|
Malar flattening, Redundant skin, Thin skin, Hyperextensible skin, Mandibular prognathia |
ORPHA:2078 |
| Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:618161 |
| Ablepharon Macrostomia Syndrome |
|
Wide mouth, Hypoplasia of penis, Thin vermilion border, Excessive wrinkled skin, Camptodactyly of... |
ORPHA:920 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Narrow palate, Macrodontia of permanent maxillary central incisor, Malar flattening, Micropenis, ... |
ORPHA:364028 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
High palate, Aminoaciduria, Micrognathia, Renal hypoplasia, Hydronephrosis, Calcinosis |
OMIM:617913 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Skeletal muscle hypertrophy, Xanthomatosis, Calf muscle pseudohypertrophy, Abnormal... |
ORPHA:79083 |
| Trisomy 13 |
|
High, narrow palate, Cleft palate, Malar flattening, Abnormality of the dentition, Abnormality of... |
ORPHA:3378 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Bladder diverticulum, Cutis laxa, Cleft soft palate, Soft skin, Type 1 muscle fiber predominance,... |
OMIM:614557 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Lymphadenitis, Inflammation of the large intestine, Thin skin, Erythroderma, Skeletal mus... |
OMIM:615895 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Eclabion, Scaling skin, Dry skin, Cutis laxa |
ORPHA:2269 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
High palate, Wide mouth, Accessory oral frenulum, Macroglossia, Nephronophthisis, Reduced renal c... |
OMIM:266920 |
| Frontometaphyseal Dysplasia 1 |
|
High palate, Dental malocclusion, Hypoplasia of the musculature, Persistence of primary teeth, Cl... |
OMIM:305620 |
| Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies |
|
High palate, Dental malocclusion, Cleft palate, Diaphragmatic eventration, Long philtrum, Distal ... |
OMIM:618975 |
| Toluene Embryopathy |
|
Thin vermilion border, Micrognathia, Hypoplasia of the zygomatic bone, Abnormal localization of k... |
ORPHA:1920 |
| Cutis Laxa, Autosomal Dominant 2 |
|
Cutis laxa, Premature skin wrinkling |
OMIM:614434 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Thin vermilion border, Long philtrum, Cutis laxa |
OMIM:614800 |
| Gastritis, Familial Giant Hypertrophic |
|
Giant hypertrophic gastritis |
OMIM:137280 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
High palate, Narrow mouth, Micrognathia, Short philtrum, Thin skin |
OMIM:201170 |
| Esophageal Ring, Lower |
|
Dysphagia, Hiatus hernia |
OMIM:133240 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Thin skin |
OMIM:259410 |
| Ochoa Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Ve... |
ORPHA:2704 |
| Serrated Polyposis Syndrome |
|
Adenomatous colonic polyposis, Ovarian neoplasm, Neoplasm of the large intestine, Colorectal poly... |
ORPHA:157798 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteomyelitis leading to amputation due to slow healing fractures, Soft skin, Limb-girdle muscle ... |
OMIM:112250 |
| Pseudoprogeria Syndrome |
|
Thin skin |
ORPHA:2985 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
High palate, Narrow mouth, Malar flattening, Cutis laxa, Redundant skin, Long philtrum, Carious t... |
OMIM:219200 |
| Even-Plus Syndrome |
|
High palate, Hypodontia, Atopic dermatitis, Recurrent urinary tract infections, Renal hypoplasia,... |
OMIM:616854 |
| Carey-Fineman-Ziter Syndrome |
|
High palate, Aplasia/Hypoplasia of the tongue, Cleft palate, Glossoptosis, Micrognathia, Thin ver... |
ORPHA:1358 |
| Stiff Skin Syndrome |
|
Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Nephrolithiasis, Subcutaneous nodule |
ORPHA:2833 |
| Progressive Hemifacial Atrophy |
|
Aplasia/Hypoplasia of the skin, Micrognathia, Abnormal mandible morphology |
ORPHA:1214 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Flexion contracture of finger, Macroglossia, Flexion contracture, Retrognathia, ... |
ORPHA:254528 |
| Reynolds Syndrome |
|
Dysphagia, Abnormal gastric mucosa morphology, Xerostomia, Gastroesophageal reflux |
ORPHA:779 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Retrognathia, Micrognathia, Excessive wrinkled skin, Thin skin, Esophagitis, Hyperextensible skin |
ORPHA:1901 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Narrow mouth, Abnormality of the urinary system, Ureteral stenosis, Microdontia, Thin skin, Abnor... |
ORPHA:2719 |
| Desmoid Tumor |
|
Abnormality of the upper urinary tract, Hydronephrosis, Subcutaneous nodule |
ORPHA:873 |
| Netherton Syndrome |
|
Aminoaciduria, Skin rash, Eczema, Dry skin, Ectopic kidney, Hydronephrosis, Erythroderma |
ORPHA:634 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Cleft upper lip, Bladder diverticulum, Blepharitis, Cleft palate, Malar flattening, Micropenis, A... |
OMIM:129900 |
| Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis, Abnormality of the musculature of the limbs |
ORPHA:3327 |
| Axial Mesodermal Dysplasia Spectrum |
|
Gingival overgrowth, Renal hypoplasia/aplasia, Congenital diaphragmatic hernia, Micrognathia, Abn... |
ORPHA:1834 |
| Microphthalmia, Lenz Type |
|
Renal hypoplasia/aplasia, Abnormality of the dentition, Camptodactyly of finger, Hypospadias, Hyd... |
ORPHA:568 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased size of the mandible, Hydronephrosis, Patent ductus arteriosus, Smooth philtrum |
OMIM:300048 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia, Cutis laxa |
OMIM:614100 |
| Cutis Laxa-Marfanoid Syndrome |
|
Redundant skin, Congenital diaphragmatic hernia, Flexion contracture |
ORPHA:171719 |
| Diabetic Embryopathy |
|
Renal hypoplasia/aplasia, Cleft palate, Micropenis, Micrognathia, Aplasia/Hypoplasia of the abdom... |
ORPHA:1926 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Striae distensae, Thin skin |
OMIM:610489 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Narrow mouth, Renal hypoplasia, Hydronephrosis, Thin upper lip vermilion, Vesicoureteral reflux |
OMIM:613735 |
| Xeroderma Pigmentosum |
|
Keratitis, Macule, Craniofacial hyperostosis, Blepharitis, Hypermelanotic macule, Aminoaciduria, ... |
ORPHA:910 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
High palate, Malar flattening, Cutis laxa, Excessive wrinkled skin, Redundant skin, Long philtrum... |
ORPHA:357074 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Bladder diverticulum, Redundant skin, Congenital diaphragmatic hernia, Cutis laxa |
OMIM:219100 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Cutis laxa, Hyperextensible skin, Long upper lip, Cleft palate |
OMIM:615349 |
| Intellectual Disability, Buenos-Aires Type |
|
High palate, Dental malocclusion, Open bite, Abnormality of dental morphology, Hydronephrosis, Ma... |
ORPHA:3079 |
| Kury-Isidor Syndrome |
|
High palate, Triangular mouth, Long philtrum, Widely spaced teeth, Tented upper lip vermilion, Hy... |
OMIM:619762 |
| De Barsy Syndrome |
|
High palate, Narrow mouth, Cutis laxa, Excessive wrinkled skin, Delayed eruption of teeth, Patent... |
ORPHA:2962 |
| Exostoses With Anetodermia And Brachydactyly, Type E |
|
Dermal atrophy |
OMIM:133690 |
| Periventricular Nodular Heterotopia |
|
Patent ductus arteriosus, Thin skin |
ORPHA:98892 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
High palate, Multiple joint contractures, Torticollis, Dentinogenesis imperfecta, Soft, doughy sk... |
ORPHA:536467 |
| Sucrosuria, Hiatus Hernia And Mental Retardation |
|
Hiatus hernia |
OMIM:272000 |
| Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
High palate, Flexion contracture, Abnormality of the dentition, Lack of skin elasticity, Thin ski... |
ORPHA:90153 |
| Distal Tetrasomy 15Q |
|
High palate, Flexion contracture, Retrognathia, Micrognathia, Abnormality of the kidney, Nephrobl... |
ORPHA:314588 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
High palate, Flexion contracture, Erythematous plaque, Scaling skin, Hydronephrosis, Erythroderma... |
ORPHA:35173 |
| Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Anetoderma, Dermal atrophy |
OMIM:250450 |
| Koolen-De Vries Syndrome |
|
Narrow palate, High, narrow palate, Cleft palate, Hypodontia, Everted lower lip vermilion, Abnorm... |
ORPHA:96169 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Wide mouth, High, narrow palate, Everted lower lip vermilion, Retrognathia, Micrognathia, Abnorma... |
ORPHA:96092 |
| Lamellar Ichthyosis |
|
Everted lower lip vermilion, Abnormality of the dentition, Lack of skin elasticity, Chronic otiti... |
ORPHA:313 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Micrognathia, Camptodactyly of finger, Hypoplasia of penis, Hydronephrosis |
ORPHA:2083 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Micropenis, Muscular dystrophy, Renal dysplasia, Renal cyst, Hydronephrosis |
OMIM:615287 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Pancreatitis, Skeletal muscle hypertrophy, Micrognathia, Xanthomatosis, Advanced eruption of teet... |
ORPHA:280365 |
| Ogden Syndrome |
|
Torticollis, Microretrognathia, High, narrow palate, Cutis laxa, Capillary malformation, Everted ... |
ORPHA:276432 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Gout, Renal ... |
OMIM:162000 |
| Mesomelia-Synostoses Syndrome |
|
Narrow mouth, High, narrow palate, Malar flattening, Micrognathia, Aplasia/Hypoplasia of the uvul... |
ORPHA:2496 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Enamel hypoplasia, Milia, Atrophic scars, Scarring alopecia of scalp, Apla... |
ORPHA:79402 |
| Igg4-Related Submandibular Gland Disease |
|
Sialadenitis, Abnormal pancreas morphology, Xerostomia, Abnormal salivary gland morphology, Abnor... |
ORPHA:449432 |
| Prune Belly Syndrome |
|
Hydroureter, Aplasia of the abdominal wall musculature, Patent ductus arteriosus, Hydronephrosis,... |
OMIM:100100 |
| Rahman Syndrome |
|
Nevus, Redundant skin, Camptodactyly |
OMIM:617537 |
| Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Malar flattening, Premature skin wrinkling, Thin vermilion border, Micrognathia, Car... |
OMIM:601559 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Dry skin, Cutis laxa |
OMIM:612379 |
| Marshall-Smith Syndrome |
|
Gingival overgrowth, Retrognathia, Protruding tongue, Thin skin, Open mouth |
ORPHA:561 |
| Fibrinolytic Defect |
|
Hyperextensible skin |
OMIM:134900 |
| Takenouchi-Kosaki Syndrome |
|
Wide mouth, Dental malocclusion, Unilateral renal agenesis, Hypospadias, Short philtrum, Long phi... |
OMIM:616737 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Malar flattening, Soft skin, Premature osteoarthritis, Atrophic scars, Hyperextensible skin |
OMIM:130060 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hyperextensible skin |
OMIM:615937 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Cutis laxa |
OMIM:270420 |
| Pseudoxanthoma Elasticum |
|
Yellow papule, Renovascular hypertension, Cutis laxa, White oral mucosal macule |
OMIM:264800 |
| Localized Junctional Epidermolysis Bullosa |
|
Skin detachment, Enamel hypoplasia, Abnormality of dental color, Milia, Dental enamel pits, Limb ... |
ORPHA:251393 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Subcutaneous nodule, Papule, Milia, Skin plaque, Pruritus, Atrophic scars, Dermal atrophy |
ORPHA:89843 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Cleft palate, Micropenis, Micrognathia, Hypospadias, Unilateral cleft lip, H... |
OMIM:616897 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Gingival overgrowth, Narrow mouth, Narrow palate, Joint contracture of the hand, Malar flattening... |
OMIM:235510 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Premature loss of teeth, Periodontitis, Dentinogenesis imperfecta, Retrognathia, Moderate albumin... |
OMIM:619269 |
| Rin2 Syndrome |
|
High palate, Gingival overgrowth, Redundant skin, Long philtrum, Irregular dentition, Hyperextens... |
ORPHA:217335 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Torticollis, Unilateral renal atrophy, Nephritis, Renal dysplasia, Keloids, Melanocytic nevus, Py... |
OMIM:314300 |
| Intrinsic Factor Deficiency |
|
Malabsorption, Absence of intrinsic factor |
OMIM:261000 |
| Blepharonasofacial Malformation Syndrome |
|
Tooth agenesis, Cleft palate, Redundant skin, Long philtrum, Non-midline cleft lip |
ORPHA:1252 |
| Cardiofaciocutaneous Syndrome |
|
High palate, Webbed neck, Excessive wrinkled skin, Redundant skin, Long philtrum, Dry skin, Multi... |
ORPHA:1340 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Cutis laxa, Lack of skin elasticity, Urethral diverticulum, Recurrent urinary tract infections, R... |
ORPHA:90349 |
| Geroderma Osteodysplasticum |
|
Periodontitis, Malar flattening, Cutis laxa, Neonatal wrinkled skin of hands and feet, Camptodact... |
OMIM:231070 |
| Meier-Gorlin Syndrome 1 |
|
High palate, Narrow mouth, Joint contracture of the hand, Cleft palate, Flexion contracture, Micr... |
OMIM:224690 |
| Recombinant 8 Syndrome |
|
Cleft upper lip, Gingival overgrowth, Cleft palate, Abnormality of the dentition, Micrognathia, C... |
ORPHA:96167 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Abnormality of the dentition, Thin skin |
OMIM:607823 |
| Focal Facial Dermal Dysplasia Type I |
|
Thick upper lip vermilion, Downturned corners of mouth, Skin dimple, Atrophic scars, Spotty hypop... |
ORPHA:79133 |
| Genitopatellar Syndrome |
|
Hip contracture, Micrognathia, Multicystic kidney dysplasia, Long philtrum, Delayed eruption of t... |
ORPHA:85201 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Wide mouth, Congenital diaphragmatic hernia, Cleft palate, Micrognathia, Short philtrum, Cleft li... |
OMIM:618454 |
| Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Polyuria, Hydronephrosis |
OMIM:304900 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
High palate, Bladder diverticulum, Soft, doughy skin, Micrognathia, Thin skin, Hyperextensible sk... |
ORPHA:536545 |
| Thanatophoric Dysplasia |
|
Abnormality of the kidney, Patent ductus arteriosus, Redundant skin |
ORPHA:2655 |
| Costello Syndrome |
|
Narrow palate, Macroglossia, Abnormality of the dentition, Lack of skin elasticity, Redundant ski... |
ORPHA:3071 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Thick vermilion border, Cutis laxa |
OMIM:314400 |
| Eec Syndrome |
|
Keratitis, Blepharitis, Tooth agenesis, Taurodontia, Renal hypoplasia/aplasia, Cleft palate, Uret... |
ORPHA:1896 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
High palate, High, narrow palate, Joint contracture of the hand, Everted lower lip vermilion, Ret... |
OMIM:612513 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Unilateral renal agenesis, Soft skin, Muscle fiber splitting, Hyperextensible skin, Vesicouretera... |
OMIM:606408 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Dysuria, Nephrotic syndrome, Deep dermal perivascular inflammatory infiltrate, Rheumatoid arthrit... |
ORPHA:49041 |
| Hyperkeratosis Lenticularis Perstans |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Pruritus, Papule |
ORPHA:409 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Narrow mouth, Long upper lip, Cleft palate, Flexion contracture, Cut... |
ORPHA:536471 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Retrognathia, Redundant neck skin, Abnormal renal tubule morphology |
OMIM:611719 |
| Carpenter Syndrome 1 |
|
High palate, Persistence of primary teeth, Joint contracture of the hand, Malar flattening, Micro... |
OMIM:201000 |
| Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Yellow papule, Cutis laxa |
OMIM:610842 |
| Trisomy 1Q |
|
Narrow mouth, Microretrognathia, Congenital diaphragmatic hernia, Cleft palate, Congenital megaur... |
ORPHA:261344 |
| Ablepharon-Macrostomia Syndrome |
|
Wide mouth, Micropenis, Redundant skin, Dry skin, Hypoplasia of the zygomatic bone, Camptodactyly... |
OMIM:200110 |
| Emanuel Syndrome |
|
High palate, Multiple joint contractures, Cleft palate, Delayed eruption of teeth, Submucous clef... |
ORPHA:96170 |
| Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
High palate, Limb hypertonia, Hydronephrosis, Cleft palate |
ORPHA:488613 |
| Ritscher-Schinzel Syndrome 1 |
|
Micrognathia, Hydronephrosis, Hypospadias, Cleft palate |
OMIM:220210 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Macroglossia, Everted lower lip vermilion, Malar flattening, Micropenis, Hyp... |
ORPHA:261494 |
| 22Q11.2 Duplication Syndrome |
|
Cleft palate, Micrognathia, Urethral stenosis, Hydronephrosis, Displacement of the urethral meatu... |
ORPHA:1727 |
| Melnick-Needles Syndrome |
|
Tooth malposition, Micrognathia, Delayed eruption of teeth, Hydronephrosis, Vesicoureteral reflux... |
ORPHA:2484 |
| Coffin-Lowry Syndrome |
|
High palate, Wide mouth, Narrow palate, Hypodontia, Everted lower lip vermilion, Redundant skin, ... |
ORPHA:192 |
| Restrictive Dermopathy 1 |
|
Narrow mouth, Temporomandibular joint ankylosis, Skin erosion, Flexion contracture, Micrognathia,... |
OMIM:275210 |
| 15Q Overgrowth Syndrome |
|
High palate, Microretrognathia, High, narrow palate, Malar flattening, Retrognathia, Micrognathia... |
ORPHA:314585 |
| Benign Schwannoma |
|
Intestinal polyposis, Abnormal esophagus morphology, Abnormal parotid gland morphology |
ORPHA:252164 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hypodontia, Micropenis, Retrognathia, Hypospadias, Duplicated collecting system, Arthrogryposis m... |
OMIM:301056 |
| Khan-Khan-Katsanis Syndrome |
|
Triangular mouth, Flexion contracture, Micrognathia, Renal hypoplasia, Tented upper lip vermilion... |
OMIM:618460 |
| Noonan Syndrome 4 |
|
Wide mouth, Dental malocclusion, Ureteral duplication, Hydronephrosis, Thick vermilion border, We... |
OMIM:610733 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Cleft palate, Preauricular pit, Downturned corners of mouth, Patent ductus art... |
ORPHA:457193 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Thickened glomerular basement membrane, Glomerular basement membrane disruption, Nephritis, Stage... |
OMIM:609057 |
| Adult Syndrome |
|
Melanocytic nevus, Abnormality of the dentition, Dry skin, Thin skin, Skin ulcer, Abnormality of ... |
ORPHA:978 |
| Thanatophoric Dysplasia Type 2 |
|
Abnormality of the kidney, Patent ductus arteriosus, Redundant skin |
ORPHA:93274 |
| X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Oral mucosal blisters, Esophageal stenosis |
OMIM:619817 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Skeletal muscle atrophy, Striae distensae, Thin skin |
OMIM:219080 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Gingival overgrowth, Tendon rupture, Cystocele, Soft skin, Abnormality of the dentition, Aplasia/... |
ORPHA:285 |
| Barber-Say Syndrome |
|
High palate, Wide mouth, Dental malocclusion, Gingival overgrowth, Velopharyngeal insufficiency, ... |
OMIM:209885 |
| Systemic Lupus Erythematosus |
|
Nephritis, Arthritis, Lupus nephritis, Malar rash, Pericarditis |
OMIM:152700 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
High palate, Micrognathia, Osteoarthritis, Redundant skin, Atrophic scars, Hyperextensible skin, ... |
OMIM:618000 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
High palate, Malar flattening, Excessive wrinkled skin, Lack of skin elasticity, Redundant skin, ... |
OMIM:612940 |
| Arterial Tortuosity Syndrome |
|
High palate, Congenital diaphragmatic hernia, Flexion contracture, Cutis laxa, Soft, doughy skin,... |
OMIM:208050 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Alveolar ridge overgrowth, Cleft palate, Malar flattening, Micropenis, Micrognathia,... |
OMIM:235255 |
| Craniofaciofrontodigital Syndrome |
|
Gingival overgrowth, Prominent median palatal raphe, Macroglossia, Cutis laxa, Palmoplantar cutis... |
ORPHA:363705 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Soft skin, Hyperextensible skin, Osteoarthritis, Striae distensae |
OMIM:130020 |
| Complement Factor I Deficiency |
|
Recurrent skin infections, Recurrent urinary tract infections, Recurrent sinusitis, Renal insuffi... |
OMIM:610984 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pancreatitis, Striae distensae, Thin skin |
OMIM:610475 |
| Alg8-Cdg |
|
Premature skin wrinkling, Cutis laxa, Macroglossia, Camptodactyly |
ORPHA:79325 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Narrow mouth, Abnormality of the dentition, Micrognathia, Thin skin, Calcinosis, Dermal atrophy |
ORPHA:90154 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Ureteral obstruction, Urinary retention, Pneumonia, Erosion of oral mucosa, Gastrointestinal infl... |
ORPHA:79404 |
| Marden-Walker Syndrome |
|
Cleft palate, Abnormality of the upper urinary tract, Skeletal muscle atrophy, Retrognathia, Micr... |
ORPHA:2461 |
| Cranioectodermal Dysplasia 2 |
|
High palate, Cleft palate, Everted lower lip vermilion, Retrognathia, Micrognathia, Fused teeth, ... |
OMIM:613610 |
| Czeizel-Losonci Syndrome |
|
High palate, Congenital megaureter, Micrognathia, Abnormality of the urinary system, Ureteral age... |
ORPHA:2437 |
| Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Ureteral obstruction, Hematu... |
ORPHA:449395 |
| Joubert Syndrome 37 |
|
High palate, Hydronephrosis, Micropenis |
OMIM:619185 |
| Tooth Agenesis, Selective, 4 |
|
Tooth agenesis, Agenesis of permanent teeth, Dry skin, Thin skin, Abnormality of primary teeth, P... |
OMIM:150400 |
| Orofaciodigital Syndrome Type 1 |
|
High palate, Cleft palate, Abnormality of the dentition, Lobulated tongue, Tongue nodules, Protei... |
ORPHA:2750 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Hyperextensible skin, Skeletal muscle atrophy, Myopathy, Atrophic scars |
ORPHA:300179 |
| 46,Xy Sex Reversal 4 |
|
High palate, Cleft palate, Micrognathia, Long philtrum, Renal dysplasia, Ureteropelvic junction o... |
OMIM:154230 |
| Ogden Syndrome |
|
High palate, Abnormality of the dentition, Short philtrum, Eczema, Enlarged kidney, Everted upper... |
OMIM:300855 |
| Endove Syndrome, Limb-Brain Type |
|
Osteomyelitis, Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis |
OMIM:619218 |
| Trisomy 20P |
|
Everted lower lip vermilion, Thin vermilion border, Abnormality of the dentition, Short philtrum,... |
ORPHA:261318 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Congenital localized absence of skin, Carious teeth, Enamel hypoplasia, Milia, Atrophic scars |
OMIM:226700 |
| Kaufman Oculocerebrofacial Syndrome |
|
High palate, Narrow mouth, Micrognathia, Diastema, Carious teeth, Preauricular skin tag, Thin ski... |
OMIM:244450 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
High palate, Triangular mouth, Preauricular pit, Long philtrum, Bifid uvula, Deep philtrum, Widel... |
OMIM:617506 |
| Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Abnormality of the dentition, Oligodontia, Hypospadias, Delayed eruption of ... |
ORPHA:2315 |
| Autosomal Dominant Cutis Laxa |
|
Bladder diverticulum, Cutis laxa, Premature skin wrinkling, Unilateral renal agenesis, Redundant ... |
ORPHA:90348 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Papule, Aplasia/Hypoplasia of the skin, Dermal atrophy, Myopathy, Skin vesicle, Abnormal dental e... |
ORPHA:257 |
| Tarp Syndrome |
|
High palate, Cleft palate, Glossoptosis, Micrognathia, Tongue nodules, Horseshoe kidney, Hydronep... |
OMIM:311900 |
| Pseudoxanthoma Elasticum |
|
High palate, Skin rash, Excessive wrinkled skin, Lack of skin elasticity, Subcutaneous nodule, St... |
ORPHA:758 |
| Webb-Dattani Syndrome |
|
Retrognathia, Vesicoureteral reflux, Neurogenic bladder, Hydronephrosis |
OMIM:615926 |
| Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
| Mosaic Trisomy 8 |
|
High palate, Cleft palate, Micrognathia, Camptodactyly of finger, Arthrogryposis multiplex congen... |
ORPHA:96061 |
| Kindler Epidermolysis Bullosa |
|
Cheilitis, Periodontitis, Colitis, Flexion contracture, Recurrent skin infections, Camptodactyly ... |
ORPHA:2908 |
| 9Q21.13 Microdeletion Syndrome |
|
Abnormal tongue morphology, Downturned corners of mouth, Hydronephrosis |
ORPHA:531151 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Wide mouth, Joint contracture of the hand, Cleft palate, Short philtrum, Camptodactyly, Widely sp... |
OMIM:280000 |
| Anauxetic Dysplasia 3 |
|
Retrognathia, Oligodontia, Cutis laxa |
OMIM:618853 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Wide mouth, High, narrow palate, Cleft palate, Abnormal penis morphology, Hypospadias, Redundant ... |
ORPHA:2658 |
| Al-Gazali Syndrome |
|
Micrognathia, Recurrent pneumonia, Hydronephrosis, Wrist flexion contracture |
OMIM:609465 |
| Weaver Syndrome |
|
Diastasis recti, Joint contracture of the hand, Cutis laxa, Retrognathia, Long philtrum, Camptoda... |
OMIM:277590 |
| Raine Syndrome |
|
High palate, Wide mouth, Gingival overgrowth, Narrow mouth, Cleft palate, Malar flattening, Micro... |
OMIM:259775 |
| Arterial Tortuosity Syndrome |
|
Malar flattening, Redundant skin, Myocarditis, Median cleft lip and palate, Abnormal zygomatic bo... |
ORPHA:3342 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Narrow mouth, Microretrognathia, Congenital diaphragmatic hernia, Cleft palate, Cutis laxa, Micro... |
OMIM:245600 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Soft, doughy skin, Duplicated collecting system, Esophagitis, Hydronephrosis, Dermal translucency... |
ORPHA:541423 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Redundant neck skin |
OMIM:619003 |
| Koolen-De Vries Syndrome |
|
High palate, Cleft upper lip, Narrow palate, Cleft palate, Everted lower lip vermilion, Eczema, R... |
OMIM:610443 |
| Al Amyloidosis |
|
Macroglossia, Xerostomia, Abnormality of the gastrointestinal tract, Abnormal salivary gland morp... |
ORPHA:85443 |
| Occipital Horn Syndrome |
|
High palate, Bladder diverticulum, Soft skin, Redundant skin, Ureteral obstruction, Long philtrum... |
OMIM:304150 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Mandibular prognathia, Thin skin, Recurrent otitis media |
ORPHA:449291 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
| Igg4-Related Thyroid Disease |
|
Abnormality of the pituitary gland, Sialadenitis, Euthyroid goiter, Nodular goiter, Pancreatic fi... |
ORPHA:64744 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
High palate, Eczematoid dermatitis, Redundant skin, Erythema, Arthritis, Patent ductus arteriosus... |
OMIM:259100 |
| Lichen Planopilaris |
|
Papule, Neoplasm of the oral cavity, Hepatitis, Pruritus, Skin ulcer, Hypopigmented skin patches,... |
ORPHA:525 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
| Barber-Say Syndrome |
|
Wide mouth, Redundant skin, Delayed eruption of teeth, Aplasia/Hypoplasia of the skin, Hyperexten... |
ORPHA:1231 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
High palate, Ureteral hypoplasia, Congenital diaphragmatic hernia, Cleft palate, Bladder trabecul... |
OMIM:614080 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
High palate, Narrow palate, Long-chain dicarboxylic aciduria, Ureteral duplication, Enlarged kidn... |
OMIM:608836 |
| Wiedemann-Rautenstrauch Syndrome |
|
Abnormality of the dentition, Short philtrum, Limb hypertonia, Retrognathia, Recurrent urinary tr... |
ORPHA:3455 |
| Papillorenal Syndrome |
|
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Soft ... |
OMIM:120330 |
| 3C Syndrome |
|
High, narrow palate, Cleft palate, Hypoplasia of penis, Micrognathia, Hypospadias, Oral cleft, Pr... |
ORPHA:7 |
| C Syndrome |
|
High palate, Gingival overgrowth, Accessory oral frenulum, Renal hypoplasia/aplasia, Congenital d... |
ORPHA:1308 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Wide mouth, Dental malocclusion, Flexion contracture, Unilateral renal agenesis, Hypospadias, Sho... |
ORPHA:487796 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Oral mucosal blisters, Enamel hypoplasia, Milia, Arthr... |
OMIM:226730 |
| Teebi-Shaltout Syndrome |
|
Wide mouth, Narrow mouth, High, narrow palate, Cleft palate, Oligodontia, Ureteral stenosis, Camp... |
OMIM:272950 |
| Cushing Disease |
|
Recurrent cutaneous fungal infections, Intra-oral hyperpigmentation, Purpura, Striae distensae, T... |
ORPHA:96253 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
High palate, Premature loss of teeth, Periodontitis, Narrow palate, Tooth malposition, Long uvula... |
ORPHA:536532 |
| Vacterl/Vater Association |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Cleft palate, Renal agenesis, Hypospadias, ... |
ORPHA:887 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Nevus flammeus of the forehead, Cleft palate, High, narrow palate, Retrognathia, Everted lower li... |
ORPHA:464738 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Gingival overgrowth, Long philtrum, Protruding tongue, Recurrent pneumonia, Hydronephrosis |
OMIM:619179 |
| Fryns Syndrome |
|
High palate, Wide mouth, Congenital diaphragmatic hernia, Cleft palate, Micrognathia, Hypospadias... |
ORPHA:2059 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Narrow mouth, Retrognathia, Micrognathia, Protruding tongue, Hydronephrosis, Thick vermilion bord... |
OMIM:608779 |
| Cap Polyposis |
|
Atrophic gastritis, Colorectal polyposis, Hematochezia |
ORPHA:160148 |
| Cousin Syndrome |
|
Alveolar ridge overgrowth, Joint contracture of the hand, Cleft palate, Micrognathia, Wrist flexi... |
OMIM:260660 |
| Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
| Nijmegen Breakage Syndrome |
|
Cleft upper lip, Sinusitis, Malar prominence, Cleft palate, Otitis media, Micrognathia, Recurrent... |
OMIM:251260 |
| Alport Syndrome 3, Autosomal Dominant |
|
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Renal insuffici... |
OMIM:104200 |
| Granulomatosis With Polyangiitis |
|
Sinusitis, Prostatitis, Pancreatitis, Abnormal oral cavity morphology, Skin rash, Otitis media, H... |
ORPHA:900 |
| Wiedemann-Rautenstrauch Syndrome |
|
Narrow mouth, Hypodontia, Malar flattening, Flexion contracture, Thin vermilion border, Micrognat... |
OMIM:264090 |
| Cerebellar-Facial-Dental Syndrome |
|
Alveolar ridge overgrowth, Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary c... |
ORPHA:444072 |
| Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Micrognathia, Diaphragmatic eventration, Renal hypoplasia, Horse... |
OMIM:601186 |
| Mosaic Trisomy 9 |
|
High palate, Hypoplasia of penis, Cleft palate, Micrognathia, Camptodactyly of finger, Multiple r... |
ORPHA:99776 |
| Amelogenesis Imperfecta, Type Ig |
|
Impaired renal concentrating ability, Gingival overgrowth, Dagger-shaped pulp calcifications, Pol... |
OMIM:204690 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Alveolar ridge overgrowth, Micropenis, Micrognathia, Abnormal renal morphology, Hydr... |
ORPHA:1655 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
U-Shaped upper lip vermilion, Hypoplasia of penis, Macroglossia, Everted lower lip vermilion, Fle... |
ORPHA:847 |
| Chime Syndrome |
|
Supernumerary tooth, Hypodontia, Cleft palate, Abnormality of the dentition, Short philtrum, Abno... |
ORPHA:3474 |
| Alport Syndrome 2, Autosomal Recessive |
|
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... |
OMIM:203780 |
| Kabuki Syndrome |
|
High palate, Renal hypoplasia/aplasia, Hypodontia, Cleft palate, Congenital diaphragmatic hernia,... |
ORPHA:2322 |
| Superficial Epidermolytic Ichthyosis |
|
Erythema, Thin skin |
ORPHA:455 |
| Thakker-Donnai Syndrome |
|
Narrow mouth, Congenital diaphragmatic hernia, Downturned corners of mouth, Hydronephrosis, Webbe... |
ORPHA:1780 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Gastric ulcer, Duodenal ulcer, Esophageal ulceration |
OMIM:618372 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
U-Shaped upper lip vermilion, Macroglossia, Malar flattening, Micropenis, Renal agenesis, Hypospa... |
OMIM:301040 |
| Cardiofaciocutaneous Syndrome 1 |
|
High palate, Dental malocclusion, Open bite, Abnormality of the dentition, Micrognathia, Atopic d... |
OMIM:115150 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
High palate, Wide mouth, Delayed eruption of teeth, Mandibular prognathia, Few cafe-au-lait spots... |
OMIM:619503 |
| Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Nephritis |
OMIM:274240 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Cleft palate, Unilateral renal agenesis, Renal dysplasia, Polycystic kidney dysplasia, Renal insu... |
ORPHA:2237 |
| Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
|
Oral mucosal blisters, Congenital localized absence of skin |
OMIM:132000 |
| Chromosome 17Q12 Deletion Syndrome |
|
High palate, Malar flattening, Retrognathia, Micrognathia, Unilateral renal agenesis, Recurrent u... |
OMIM:614527 |
| Autosomal Recessive Robinow Syndrome |
|
Wide mouth, Abnormality of the dentition, Short philtrum, Tented upper lip vermilion, Ankylogloss... |
ORPHA:1507 |
| Fechtner syndrome |
|
Proteinuria, Nephritis, Hematuria, Stage 5 chronic kidney disease |
OMIM:153640 |
| Enamel-Renal Syndrome |
|
Abnormal dental enamel morphology, Impaired renal concentrating ability, Gingival overgrowth, Hyp... |
ORPHA:1031 |
| Gapo Syndrome |
|
Nephrolithiasis, Everted lower lip vermilion, Skin tags, Micrognathia, Long philtrum, Delayed eru... |
ORPHA:2067 |
| Lysinuric Protein Intolerance |
|
Oroticaciduria, Pancreatitis, Aminoaciduria, Cutis laxa, Hyperextensible skin, Skeletal muscle at... |
OMIM:222700 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
High palate, High, narrow palate, Macroglossia, Malar flattening, Aminoaciduria, Micrognathia, Hy... |
OMIM:214100 |
| Cat Eye Syndrome |
|
Cleft palate, Renal agenesis, Micrognathia, Preauricular pit, Preauricular skin tag, Horseshoe ki... |
OMIM:115470 |
| Vascular Ehlers-Danlos Syndrome |
|
Excessive wrinkled skin, Abnormality of the dentition, Aplasia/Hypoplasia of the abdominal wall m... |
ORPHA:286 |
| Thanatophoric Dysplasia Type 1 |
|
Excessive wrinkled skin, Abnormality of the kidney, Patent ductus arteriosus, Redundant skin |
ORPHA:1860 |
| Micro Syndrome |
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High palate, Hypoplasia of penis, Micrognathia, Short philtrum, Abnormal localization of kidney, ... |
ORPHA:2510 |
| Aplasia Cutis Congenita |
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Skin ulcer, Facial palsy, Aplasia cutis congenita over the scalp vertex, Congenital localized abs... |
ORPHA:1114 |
| Flynn-Aird Syndrome |
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