| Polyposis of gastric fundus without polyposis coli |
|
Multiple gastric polyps, Abnormality of the gastric mucosa |
OMIM:175505 |
| Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
| Immunodeficiency 34 |
|
Severe recurrent varicella, Recurrent mycobacterial infections |
OMIM:300645 |
| Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
| Polyposis, gastric |
|
Multiple gastric polyps |
OMIM:175020 |
| Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
| Lymphoma, Mucosa-Associated Lymphoid Type |
|
Gastric lymphoma |
OMIM:137245 |
| Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
| Coxsackievirus B3 Susceptibility |
|
Recurrent viral infections |
OMIM:120050 |
| Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
| Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
| Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections |
OMIM:613796 |
| Spermatogenic Failure 3 |
|
Infertility |
OMIM:606766 |
| Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
| Oocyte Maturation Defect 1 |
|
Infertility |
OMIM:615774 |
| Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
| Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
| Oocyte Maturation Defect 4 |
|
Infertility |
OMIM:617743 |
| Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
| 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 |
| Van Der Woude Syndrome |
|
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... |
ORPHA:888 |
| Oocyte Maturation Defect 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I |
ORPHA:488191 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... |
OMIM:310468 |
| Periodontal Ehlers-Danlos Syndrome |
|
Agenesis of permanent teeth, Atrophic scars, Periodontitis, Atrophy of alveolar ridges, Hyperexte... |
ORPHA:75392 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... |
OMIM:613092 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, Recurrent bac... |
ORPHA:70592 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
| Elastosis Perforans Serpiginosa |
|
Serpiginous cutaneous lesion, Annular cutaneous lesion, Skin-colored papule, Erythematous papule,... |
ORPHA:79148 |
| Granulomatous Slack Skin |
|
Acute kidney injury, Redundant skin, Cutis laxa, Erythema, Nephrocalcinosis |
ORPHA:33111 |
| Gastric Cancer, Hereditary Diffuse |
|
Stomach cancer, Chronic atrophic gastritis, Cleft upper lip, Cleft palate |
OMIM:137215 |
| Premature Ovarian Failure 13 |
|
Oligomenorrhea |
OMIM:617442 |
| Premature Ovarian Failure 15 |
|
Oligomenorrhea |
OMIM:618096 |
| Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis |
OMIM:614196 |
| 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 |
| Kimura Disease |
|
Abnormal salivary gland morphology |
ORPHA:482 |
| Immunodeficiency 35 |
|
Recurrent viral infections, Recurrent respiratory infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent pneumonia |
OMIM:613500 |
| 2p15-16.1 microdeletion syndrome |
|
Camptodactyly of finger, Hydronephrosis |
DECIPHER:70 |
| Myelolymphatic Insufficiency |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:310350 |
| Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
| Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
| Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
| Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Soft skin, Palmoplantar cutis laxa, Thin skin, Periodontitis, Atrophic scars, Gingival recession,... |
OMIM:130080 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:619245 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections |
OMIM:242870 |
| Elastoderma |
|
Premature skin wrinkling, Cutis laxa, Erysipelas, Papule, Eczema, Skin nodule |
ORPHA:228240 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Tubulointerstitial fibrosis, Renal hypoplasia, Glomerular sclerosis, Renal salt wasting, Renal tu... |
OMIM:174000 |
| Amyloidosis, Finnish Type |
|
Renal insufficiency, Cutis laxa, Nephrotic syndrome |
OMIM:105120 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Bifid uvula, Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
| Dermoodontodysplasia |
|
Thin skin, Dry skin, Hypodontia |
OMIM:125640 |
| Ring Chromosome 8 Syndrome |
|
Abnormal palate morphology, Hydronephrosis, Abnormality of the ureter |
ORPHA:1450 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of dental morphology, Thin skin, Thick vermilion border, Abnormality of the dentition... |
ORPHA:1810 |
| 6P22 Microdeletion Syndrome |
|
Redundant skin, Abnormal palate morphology, Hydronephrosis, Patent ductus arteriosus |
ORPHA:251046 |
| Nephronophthisis 1 |
|
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Re... |
OMIM:256100 |
| Salivary Duct Calculi |
|
Abnormality of the mouth, Parotitis |
OMIM:181010 |
| Urofacial Syndrome 2 |
|
Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro... |
OMIM:615112 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic... |
ORPHA:617 |
| Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Molluscoid pseudotumors, Soft skin, Cigarette-paper scars, Atrophic scars, Recurrent sinusitis, H... |
OMIM:130010 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Camptodactyly of finger, Cigarette-paper scars, Thin skin, Webbed neck... |
OMIM:612350 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
| Nk-Cell Enteropathy |
|
Gastric ulcer, Hematochezia, Gastroesophageal reflux, Abnormality of the gastric mucosa, Colonic ... |
ORPHA:263665 |
| Alport Syndrome |
|
Hematuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria, Thickene... |
ORPHA:63 |
| Growth Factors, Combined Defect Of |
|
Narrow mouth, Thin skin, Flexion contracture, Dermal atrophy, Micrognathia |
OMIM:233805 |
| Renal Hypodysplasia/Aplasia 3 |
|
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... |
OMIM:617805 |
| X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Hydronephrosis, Hip contracture, Knee flexion contracture, High palate, El... |
ORPHA:85285 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Thin skin, Premature loss of primary teeth, Microdontia, Widely spaced teeth, Dry skin |
OMIM:617364 |
| Nephronophthisis 4 |
|
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu... |
OMIM:606966 |
| Immunodeficiency, Common Variable, 6 |
|
Enlarged kidney, Purpura, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glome... |
OMIM:613496 |
| Absence Of Fingerprints-Congenital Milia Syndrome |
|
Thin skin, Skin rash, Camptodactyly of finger, Milia |
ORPHA:1658 |
| Acrogeria |
|
Thin skin, Aplasia/Hypoplasia of the skin, Micrognathia, Excessive wrinkled skin, Skin ulcer |
ORPHA:2500 |
| Dermoodontodysplasia |
|
Thin skin, Mandibular prognathia, Melanocytic nevus, Tooth agenesis, Microdontia, Dry skin |
ORPHA:1660 |
| Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Redundant skin, Cutis laxa, Papule, Increased number of skin folds |
ORPHA:436274 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Hypospadias, Cutis laxa, Micrognathia |
OMIM:301045 |
| Fanconi Renotubular Syndrome 5 |
|
Tubulointerstitial fibrosis, Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria |
OMIM:618913 |
| Nephronophthisis 3 |
|
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c... |
OMIM:604387 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ... |
ORPHA:2838 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Narrow mouth, Thin skin, Atypical scarring of skin, Cutis laxa, Flexion contracture, Atrophic sca... |
ORPHA:75496 |
| Oculogastrointestinal Muscular Dystrophy |
|
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... |
ORPHA:1876 |
| Ovarian Dysgenesis 3 |
|
Primary amenorrhea |
OMIM:614324 |
| Macdermot-Winter Syndrome |
|
Camptodactyly of finger, Hydronephrosis |
OMIM:247990 |
| Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Chronic kidney disease, Nephropathy, Abnormal tubulointerstitial morphology |
OMIM:602114 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
| Weaver Syndrome |
|
Long philtrum, Camptodactyly of finger, Redundant skin, Deep philtrum, Hypoplasia of penis, Retro... |
ORPHA:3447 |
| Prolidase Deficiency |
|
Pruritus, Carious teeth, Thin skin, Recurrent cystitis, Erythema, Crusting erythematous dermatiti... |
ORPHA:742 |
| Hereditary Acrokeratotic Poikiloderma |
|
Open bite, Narrow mouth, Thin skin, Erythema, Xerostomia, Abnormality of the urethra, Gingivitis,... |
ORPHA:2907 |
| Gapo Syndrome |
|
Tubulointerstitial fibrosis, Thick lower lip vermilion, Redundant skin, Abnormality of the dentit... |
OMIM:230740 |
| Myopathy, Congenital, Progressive, With Scoliosis |
|
Facial hypotonia, Renal atrophy, Congenital contracture, Hydronephrosis, Skeletal muscle atrophy,... |
OMIM:618578 |
| Ménétrier Disease |
|
Multiple gastric polyps, Gastrointestinal hemorrhage, Helicobacter pylori infection, Gastroesopha... |
ORPHA:2494 |
| Glycogen Storage Disease Iv |
|
Arthrogryposis multiplex congenita, Tubulointerstitial fibrosis, Skeletal muscle atrophy |
OMIM:232500 |
| Dent Disease |
|
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... |
ORPHA:1652 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of dental morphology, Thin skin, Abnormality of the dentition, Thick vermilion border... |
ORPHA:238468 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... |
OMIM:143400 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... |
ORPHA:93109 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Carious teeth, Soft skin, Dental crowding, Thin skin, Camptodactyly, Congenital diaphragmatic her... |
OMIM:617602 |
| Variant Abeta2M Amyloidosis |
|
Gastrointestinal infarctions, Abnormality of the tongue, Intestinal perforation, Abnormal salivar... |
ORPHA:314652 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis |
OMIM:618270 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Aplasia cutis congenita, Skin erosion, Atrophic scars, Muscular dystrophy, Glomerular sclerosis, ... |
ORPHA:158684 |
| Chromosome 18P Deletion Syndrome |
|
Tooth malposition, Redundant neck skin, High palate, Micrognathia, Micropenis |
OMIM:146390 |
| Chronic Intestinal Pseudoobstruction |
|
Abnormal intestine morphology, Pyloric stenosis, Intestinal malrotation |
ORPHA:2978 |
| Arthrochalasia Ehlers-Danlos Syndrome |
|
Thin skin, Retrognathia, Micrognathia, Hyperextensible skin |
ORPHA:1899 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Tubulointerstitial fibrosis, Enlarged kidney, Absence of renal corticomedullary differentiation, ... |
OMIM:263200 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Thin skin, Flexion contracture, Thenar muscle atrophy, Hyperextensible skin |
ORPHA:157965 |
| Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent bacterial infections |
OMIM:608957 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Thin skin, Nephrolithiasis |
ORPHA:189427 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Thin skin, Skeletal muscle hypertrophy, Xanthomatosis, Glomerulopathy, Abnormality of skeletal mu... |
ORPHA:2348 |
| Cranioectodermal Dysplasia 4 |
|
Thin vermilion border, Cutis laxa, Smooth philtrum, Nephropathy, Stage 5 chronic kidney disease, ... |
OMIM:614378 |
| Brooke-Spiegler Syndrome |
|
Salivary gland neoplasm, Abnormality of the submandibular glands, Abnormality of the sublingual g... |
ORPHA:79493 |
| Autosomal Dominant Deafness-Onychodystrophy Syndrome |
|
Small, conical teeth, Oligodontia, Aplasia cutis congenita, Abnormality of the dentition |
ORPHA:79499 |
| Focal Dermal Hypoplasia |
|
Open bite, Camptodactyly of finger, Abnormal dental enamel morphology, Diastasis recti, Horseshoe... |
ORPHA:2092 |
| Cat-Eye Syndrome |
|
Preauricular pit, Preauricular skin tag, Abnormal localization of kidney, Hydronephrosis, Renal h... |
ORPHA:195 |
| Kosaki Overgrowth Syndrome |
|
Thin upper lip vermilion, Thin skin, Hyperextensible skin |
OMIM:616592 |
| Renal Hypoplasia |
|
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... |
ORPHA:93101 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Dermal atrophy, Macule, Aplasia/Hypoplasia of the skin |
ORPHA:1962 |
| Gastric Volvulus, Intrathoracic |
|
Hiatus hernia, Volvulus |
OMIM:137210 |
| Dysmorphism-Cleft Palate-Loose Skin Syndrome |
|
Redundant skin, Micrognathia, Cleft palate |
ORPHA:1779 |
| Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Redundant skin, Cutis laxa, Papule |
ORPHA:91135 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Short philtrum, Downturned corners of mouth, Redundant skin, Hypopigmented skin patches, Multiple... |
ORPHA:1807 |
| Macs Syndrome |
|
Bronchiectasis, Thick lower lip vermilion, Redundant skin, Cutis laxa, Hyperextensible skin, Irre... |
OMIM:613075 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Arthrogryposis multiplex congenita, Vesicoureteral reflux, Hydronephrosis, Cleft palate, Microgna... |
OMIM:618265 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Thin skin, Atypical scarring of skin, Hyperextensible skin, Petechiae, Striae distensae |
OMIM:225310 |
| 19Q13.11 Microdeletion Syndrome |
|
Thin vermilion border, Aplasia cutis congenita, Thin skin, Wide mouth, Solitary median maxillary ... |
ORPHA:217346 |
| Muir-Torre Syndrome |
|
Salivary gland neoplasm, Neoplasm of the liver, Adenoma sebaceum, Neoplasm of the stomach, Colon ... |
ORPHA:587 |
| X-Linked Ehlers-Danlos Syndrome |
|
Thin skin, Hyperextensible skin |
ORPHA:75497 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Long philtrum, Redundant skin, Abnormal palate morphology, Deep philtrum, Recurrent urinary tract... |
ORPHA:502 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria |
OMIM:613944 |
| Rapp-Hodgkin Syndrome |
|
Narrow mouth, Small, conical teeth, Thin skin, Recurrent otitis media, Hypodontia, Bifid uvula, C... |
OMIM:129400 |
| Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma |
OMIM:619182 |
| Distal Trisomy 6P |
|
Thin vermilion border, Narrow mouth, Renal hypoplasia, Abnormality of the urinary system, Sacral ... |
ORPHA:1745 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Acute kidney injury, Oral ulcer, Synovitis, Abnormal glomerular mesangium morphology, ... |
ORPHA:567544 |
| Scarf Syndrome |
|
Enamel hypoplasia, Long philtrum, Diastasis recti, Webbed neck, Cutis laxa, Perineal hypospadias,... |
ORPHA:3134 |
| 8P23.1 Duplication Syndrome |
|
Long philtrum, Hydronephrosis, Thick vermilion border |
ORPHA:251076 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Hematuria, Purpura, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, ... |
OMIM:161950 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Esophagitis, Duodenitis, Ileitis, Protein-losing enteropathy, Pancolitis, Gastritis, Abnormal int... |
OMIM:619079 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Increased urinary potassium, Renal salt wa... |
OMIM:602522 |
| Tetraploidy |
|
Short philtrum, Preauricular skin tag, Hydronephrosis, Cleft palate, Renal hypoplasia/aplasia, Mi... |
ORPHA:3305 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Short philtrum, Thin vermilion border, Thin skin, Skin dimple, Micrognathia |
ORPHA:261304 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Arthrogryposis multiplex congenita, Renal hypoplasia, Microretrognathia, Renal dysplasia, Redunda... |
OMIM:236500 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Thin skin, Erythema, Dermal atrophy, Crusting erythematous dermatitis, Erythematous plaque, Milia |
ORPHA:158673 |
| Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Aplasia cutis congenita, Congenital absence of skin of limbs |
OMIM:600360 |
| Orofaciodigital Syndrome Xv |
|
Hydronephrosis, Lobulated tongue |
OMIM:617127 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Cutis laxa, Unilateral renal agenesis, Premature skin wrinkling |
OMIM:616603 |
| Juvenile Hyaline Fibromatosis |
|
Progressive flexion contractures, Gingival fibromatosis, Subcutaneous nodule, Gingival overgrowth... |
ORPHA:2028 |
| Familial Cervical Artery Dissection |
|
Thin skin, Facial palsy, Striae distensae |
ORPHA:36382 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Thin skin, Atrophic scars, Soft skin, Hyperextensible skin |
OMIM:225320 |
| Vesicoureteral Reflux 3 |
|
Vesicoureteral reflux, Hydronephrosis, Hydroureter |
OMIM:613674 |
| Renal Failure, Progressive, With Hypertension |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephritis, Proteinuria |
OMIM:161900 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Thin vermilion border, Dermal translucency, Thin skin, Cutis laxa, Elbow flexion contracture, Exc... |
OMIM:614438 |
| Silver-Russell Syndrome 2 |
|
Thin skin, Micrognathia, Downturned corners of mouth |
OMIM:618905 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Thin skin, Aplasia/Hypoplasia of the skin, Skin ulcer, Purpura |
ORPHA:743 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Redundant skin, Webbed neck, Atrophic scars, Hyperextensible skin, High palate, Micrognathia, Ost... |
OMIM:618000 |
| Agel Amyloidosis |
|
Pruritus, Proteinuria, Cutis laxa, Xerostomia, Dry skin, Keratoconjunctivitis sicca, Facial palsy... |
ORPHA:85448 |
| Regional Odontodysplasia |
|
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... |
ORPHA:83450 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Long philtrum, Arthrogryposis multiplex congenita, Horseshoe kidney, Narrow mouth, Decreased musc... |
ORPHA:2953 |
| Recombinant Chromosome 8 Syndrome |
|
Downturned corners of mouth, Thick lower lip vermilion, Camptodactyly, Patent ductus arteriosus, ... |
OMIM:179613 |
| Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... |
OMIM:619201 |
| Cranioectodermal Dysplasia 3 |
|
Nephronophthisis, Hypoplasia of teeth, Everted lower lip vermilion, Cutis laxa, Stage 5 chronic k... |
OMIM:614099 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Abnormal dental enamel morphology, Thin skin, Microdontia, Hypoplasia of the zygomatic bone, Clef... |
ORPHA:1812 |
| Hinman Syndrome |
|
Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff... |
ORPHA:84085 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Facial erythema, Purpura, Thin skin, Striae distensae, Skeletal muscle atrophy, Nephrolithiasis, ... |
OMIM:219090 |
| Dysmyelination With Jaundice |
|
Hydronephrosis, Hypoplasia of penis, Hydroureter |
OMIM:224250 |
| Immunodeficiency 49 |
|
Short philtrum, Cutis laxa, Natal tooth, Micrognathia, Inflammatory abnormality of the skin |
OMIM:617237 |
| Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydronephrosis, Hydroureter |
OMIM:264140 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Solitary median maxillary central incisor, Hydronephrosis, Cleft upper lip, Cleft palate, High pa... |
OMIM:602418 |
| Porokeratosis Of Mibelli |
|
Pruritus, Aplasia/Hypoplasia of the skin |
ORPHA:735 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Long philtrum, Open mouth, Renal hypoplasia, Recurrent otitis media, Thin upper lip vermilion, Hy... |
OMIM:618494 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Thin skin, Aplasia/Hypoplasia of the skin, Purpura |
ORPHA:745 |
| Posterior Urethral Valve |
|
Dysuria, Pyelonephritis, Enuresis nocturna, Recurrent urinary tract infections, Unilateral renal ... |
ORPHA:93110 |
| Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Cigarette-paper scars, Decreased muscle mass, Hyperextensible skin, Excessive skin wrinkling on d... |
OMIM:608763 |
| Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
| Frontometaphyseal Dysplasia 1 |
|
Delayed eruption of teeth, Camptodactyly of finger, Scapular winging, Hydroureter, Persistence of... |
OMIM:305620 |
| Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Preauricular skin tag, Ureteropelvic junction ... |
ORPHA:107 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Xanthelasma, Carious teeth, Tubulointerstitial fibrosis, Enl... |
ORPHA:79259 |
| Glass Syndrome |
|
Oligodontia, Narrow mouth, Dental crowding, Thin skin, Camptodactyly, Smooth philtrum, Cleft pala... |
OMIM:612313 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Pierre-Robin sequence, High palate, Camptodactyly, Smooth philtrum, Thin upper lip vermilion, Cle... |
OMIM:611209 |
| Amyloidosis, Primary Localized Cutaneous, 1 |
|
Pruritus, Cutis laxa, Scaling skin, Dry skin |
OMIM:105250 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Hypopigmented skin patches on arms, Tubulointerstitial fibrosis, Purpura, Rheumatoid arthritis, R... |
OMIM:607944 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Enamel hypoplasia, Hematuria, Aplasia cutis congenita, Urinary bladder inflammation, Renal dyspla... |
ORPHA:79403 |
| Xanthinuria, Type I |
|
Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis, Myopathy |
OMIM:278300 |
| Fetal Encasement Syndrome |
|
Mandibular aplasia, Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney, Thin sk... |
OMIM:613630 |
| Dubin-Johnson Syndrome |
|
Abnormality of the gastric mucosa |
ORPHA:234 |
| Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
|
Short philtrum, Narrow mouth, Bronchiectasis, Bifid ureter, Thin skin, Increased number of skin f... |
OMIM:601347 |
| Short Syndrome |
|
Delayed eruption of teeth, Downturned corners of mouth, Premature skin wrinkling, Thin skin, Hypo... |
OMIM:269880 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Hy... |
OMIM:191800 |
| Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Micrognathia, Hydronephrosis, Skeletal muscle atrophy |
OMIM:607598 |
| Arima Syndrome |
|
Nephronophthisis, Tubulointerstitial fibrosis, Wide mouth, Renal tubular atrophy, Renal corticome... |
OMIM:243910 |
| Systemic Lupus Erythematosus 16 |
|
Nephritis |
OMIM:614420 |
| Hereditary Xanthinuria |
|
Decreased urinary urate, Hematuria, Acute kidney injury, Xanthinuria, Xanthine nephrolithiasis, I... |
ORPHA:3467 |
| Cushing Disease |
|
Thin skin, Myopathy, Recurrent skin infections, Nephrolithiasis, Acne |
ORPHA:96253 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Short philtrum, Everted lower lip vermilion, Nevus, Tented upper lip vermilion, Hydronephrosis, C... |
OMIM:616449 |
| Myopathic Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Soft skin, Congenital finger flexion contractures, Congenital muscular tor... |
ORPHA:536516 |
| Mental Retardation, Autosomal Dominant 42 |
|
Limb hypertonia, Hydronephrosis, Cleft palate |
OMIM:616973 |
| Man1B1-Cdg |
|
Short philtrum, Cutis laxa, Smooth philtrum, Thick vermilion border, Thin upper lip vermilion, Mu... |
ORPHA:397941 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Molluscoid pseudotumors, Soft skin, Dental crowding, Palmoplantar cutis laxa, Thin skin, Hyperext... |
OMIM:225400 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Thin skin, Hyperextensible skin, Skeletal muscle atrophy |
ORPHA:230839 |
| Scarf Syndrome |
|
Enamel hypoplasia, Long philtrum, Diastasis recti, Webbed neck, Cutis laxa, Perineal hypospadias,... |
OMIM:312830 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Soft skin, Taurodontia, Thin skin, Everted lower lip vermilion, Thick vermilion border, Hypodonti... |
OMIM:305100 |
| Progeroid Syndrome, Petty Type |
|
Shagreen patch, Redundant skin, Cutis laxa, Mandibular prognathia, Everted lower lip vermilion, T... |
ORPHA:2963 |
| Axenfeld-Rieger Syndrome |
|
Redundant skin, Everted lower lip vermilion, Hypodontia, Hypospadias, Microdontia, Hypoplasia of ... |
ORPHA:782 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
| C Syndrome |
|
Renal cortical cysts, Cutis laxa, Patent ductus arteriosus, Wide mouth, High palate, Micrognathia... |
OMIM:211750 |
| Ulerythema Ophryogenesis |
|
Erythema, Papule, Aplasia/Hypoplasia of the skin, Inflammatory abnormality of the skin |
ORPHA:3406 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Carious teeth, Aplasia cutis congenita, Skin erosion, Atrophic scars, Oral mucosal blisters, Milia |
ORPHA:79411 |
| Aldh18A1-Related De Barsy Syndrome |
|
Hyperextensible skin |
ORPHA:35664 |
| Fanconi Anemia, Complementation Group O |
|
Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst |
OMIM:613390 |
| Renal Hypodysplasia/Aplasia 2 |
|
Redundant skin |
OMIM:615721 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydronephrosis, Hydroureter |
OMIM:618240 |
| Urofacial Syndrome 1 |
|
Urethral obstruction, Hydroureter, Urethral valve, Recurrent urinary tract infections, Enuresis, ... |
OMIM:236730 |
| Branchio-Oculo-Facial Syndrome |
|
Atypical scarring of skin, High palate, Everted lower lip vermilion, Deep philtrum, Upper lip pit... |
ORPHA:1297 |
| Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Ureteral atresia, Hydronephrosis, Abnormality of the diaphragm |
OMIM:183802 |
| Adult Syndrome |
|
Oligodontia, Thin skin, Premature loss of permanent teeth, Hypodontia, Oral cleft, Conjunctivitis... |
OMIM:103285 |
| Trisomy 17P |
|
Macroglossia, Narrow mouth, Urethral valve, Flexion contracture, Patent ductus arteriosus, Wide m... |
ORPHA:261290 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephropathy, Renal tubular atrophy, Gout, Renal insufficiency, Nephritis |
OMIM:162000 |
| Suleiman-El-Hattab Syndrome |
|
Long philtrum, Drooling, Downturned corners of mouth, Microretrognathia, Webbed neck, Wide mouth,... |
OMIM:618950 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Soft, doughy skin, Frontal open bite, Recurrent mandibular subluxations, Redundant skin, Gingival... |
OMIM:225410 |
| Porokeratosis Plantaris Palmaris Et Disseminata |
|
Aplasia/Hypoplasia of the skin |
ORPHA:737 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Long philtrum, Cutis laxa, Bladder diverticulum, Hydronephrosis, Retrognathia, Micrognathia, Mala... |
OMIM:613177 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Chordee, Thin skin, Cutis laxa, Abnormality of the dentition, Microglossia, Knee flexion contract... |
OMIM:151050 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Thin skin, Abnormal penis morphology, Subcutaneous nodule, Multiple cafe-au-lait spots, Dry skin |
ORPHA:457059 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Long philtrum, Thin vermilion border, Cutis laxa |
OMIM:614800 |
| Prune Belly Syndrome |
|
Hydroureter, Urethral valve, Aplasia of the abdominal wall musculature, Patent ductus arteriosus,... |
OMIM:100100 |
| Joubert Syndrome 35 |
|
Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydronephrosis |
OMIM:618161 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Redundant skin |
OMIM:301021 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Aminoaciduria, Calcinosis, Hydronephrosis, High palate, Micrognathia |
OMIM:617913 |
| Xfe Progeroid Syndrome |
|
Enamel hypoplasia, Proteinuria, Dermal atrophy, Renal insufficiency, Dry skin |
OMIM:610965 |
| Trisomy 13 |
|
Long philtrum, Multiple renal cysts, Patent ductus arteriosus, Abnormality of the dentition, Prea... |
ORPHA:3378 |
| Pregnancy Loss, Recurrent, Susceptibility To, 3 |
|
Recurrent spontaneous abortion |
OMIM:614391 |
| Pregnancy Loss, Recurrent, Susceptibility To, 2 |
|
Recurrent spontaneous abortion |
OMIM:614390 |
| Pregnancy Loss, Recurrent, Susceptibility To, 1 |
|
Recurrent spontaneous abortion |
OMIM:614389 |
| Mandibuloacral Dysplasia |
|
Abnormal tongue morphology, Hypoplasia of teeth, Dental crowding, Thin skin, High palate, Contrac... |
ORPHA:2457 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Marked muscular hypertrophy, Thin skin, Skeletal muscle hypertrophy, Xanthomatosis, Calf muscle p... |
ORPHA:79083 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Thin skin, Myopathy, Striae distensae, Skeletal muscle atrophy |
ORPHA:189439 |
| Geroderma Osteodysplastica |
|
Thin skin, Redundant skin, Mandibular prognathia, Hyperextensible skin, Malar flattening |
ORPHA:2078 |
| Ablepharon Macrostomia Syndrome |
|
Camptodactyly of finger, Thin vermilion border, Thin skin, Redundant skin, Wide mouth, Dry skin, ... |
ORPHA:920 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Cutis laxa, Eclabion, Scaling skin, Dry skin |
ORPHA:2269 |
| Gastritis, Familial Giant Hypertrophic |
|
Giant hypertrophic gastritis |
OMIM:137280 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Short philtrum, Narrow palate, Facial hypotonia, Open mouth, Abnormality of muscle size, Mandibul... |
ORPHA:364028 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Long philtrum, Carious teeth, Narrow mouth, Redundant skin, Cutis laxa, High palate, Malar flatte... |
OMIM:219200 |
| Toluene Embryopathy |
|
Thin vermilion border, Smooth philtrum, Abnormal localization of kidney, Hydronephrosis, Hypoplas... |
ORPHA:1920 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short philtrum, Narrow mouth, Thin skin, High palate, Micrognathia |
OMIM:201170 |
| Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies |
|
Long philtrum, Renal hypoplasia, Mandibular prognathia, Diaphragmatic eventration, Smooth philtru... |
OMIM:618975 |
| Cutis Laxa, Autosomal Dominant 2 |
|
Cutis laxa, Premature skin wrinkling |
OMIM:614434 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteomyelitis leading to amputation due to slow healing fractures, Soft skin, Thin skin, Skeletal... |
OMIM:112250 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Tendon rupture, Dental crowding, Thin skin, Atrophic scars, Hyperextensible skin, Left ventricula... |
ORPHA:230851 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Thin skin |
OMIM:259410 |
| Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Gastric diverticulum, Ovarian neoplasm, Colorectal polyposis, Adenomatous... |
ORPHA:157798 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Cutis laxa, Long upper lip, Hyperextensible skin, Cleft palate |
OMIM:615349 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Macroglossia, Diastasis recti, Flexion contracture of finger, Open mouth, Camptodactyly, Flexion ... |
ORPHA:254528 |
| Reynolds Syndrome |
|
Dysphagia, Xerostomia, Gastroesophageal reflux, Abnormality of the gastric mucosa |
ORPHA:779 |
| Esophageal Ring, Lower |
|
Dysphagia, Hiatus hernia |
OMIM:133240 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the urinary system, Abnormal localization of kidney, Abnormality of the ureter, Pr... |
ORPHA:1834 |
| Progressive Hemifacial Atrophy |
|
Aplasia/Hypoplasia of the skin, Micrognathia, Abnormality of the mandible |
ORPHA:1214 |
| Ochoa Syndrome |
|
Urethral obstruction, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral re... |
ORPHA:2704 |
| Papillorenal Syndrome |
|
Soft skin, Renal malrotation, Horseshoe kidney, Renal hypoplasia, Hyperextensible skin, Multicyst... |
OMIM:120330 |
| Pseudoprogeria Syndrome |
|
Thin skin |
ORPHA:2985 |
| Amelogenesis Imperfecta |
|
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... |
ORPHA:88661 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Cutis laxa |
OMIM:270420 |
| Cutis Laxa-Marfanoid Syndrome |
|
Redundant skin, Flexion contracture, Congenital diaphragmatic hernia |
ORPHA:171719 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Cutis laxa, Congenital diaphragmatic hernia |
OMIM:614100 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Carious teeth, Oligodontia, Hydroureter, Thin skin, Duplicated collecting system, Xerostomia, Ves... |
OMIM:129900 |
| Thyrocerebrorenal Syndrome |
|
Abnormality of the musculature of the limbs, Renal insufficiency, Nephritis |
ORPHA:3327 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Patent ductus arteriosus, Increased size of the mandible, Hydronephrosis, Smooth philtrum |
OMIM:300048 |
| Carey-Fineman-Ziter Syndrome |
|
Glandular hypospadias, Thin vermilion border, Long philtrum, Pierre-Robin sequence, Aplasia/Hypop... |
ORPHA:1358 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Narrow mouth, Thin skin, Abnormal palate morphology, Abnormality of the urinary system, Ureteral ... |
ORPHA:2719 |
| Stiff Skin Syndrome |
|
Subcutaneous nodule, Lack of skin elasticity, Nephrolithiasis, Aplasia/Hypoplasia of the skin |
ORPHA:2833 |
| Williams-Beuren Region Duplication Syndrome |
|
Short philtrum, Chronic otitis media, Unilateral renal agenesis, Diastema, Patent ductus arterios... |
OMIM:609757 |
| Desmoid Tumor |
|
Subcutaneous nodule, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Muscular dystrophy, Renal dysplasia, Renal cyst, Hydronephrosis, Micropenis |
OMIM:615287 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Narrow mouth, Renal hypoplasia, Thin upper lip vermilion, Vesicoureteral reflux, Hydronephrosis |
OMIM:613735 |
| Emanuel Syndrome |
|
Dental crowding, Submucous cleft lip, Patent ductus arteriosus, Broad jaw, Congenital diaphragmat... |
ORPHA:96170 |
| Intellectual Disability, Buenos-Aires Type |
|
Open bite, Abnormality of dental morphology, Mandibular prognathia, Hydronephrosis, High palate, ... |
ORPHA:3079 |
| Stuve-Wiedemann Syndrome |
|
Pursed lips, Abnormal dental enamel morphology, Thin skin, Flexion contracture of toe, Knee flexi... |
OMIM:601559 |
| Autosomal Dominant Cutis Laxa |
|
Redundant skin, Cutis laxa, Premature skin wrinkling |
ORPHA:90348 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Abnormal renal tubule morphology, Retrognathia, Redundant neck skin |
OMIM:611719 |
| Exostoses With Anetodermia And Brachydactyly, Type E |
|
Dermal atrophy |
OMIM:133690 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Esophagitis, Thin skin, Hyperextensible skin, Retrognathia, Micrognathia, Excessive wrinkled skin |
ORPHA:1901 |
| Xeroderma Pigmentosum |
|
Craniofacial hyperostosis, Thin skin, Melanocytic nevus, Aminoaciduria, Abnormality of the dentit... |
ORPHA:910 |
| Netherton Syndrome |
|
Skin rash, Erythroderma, Aminoaciduria, Ectopic kidney, Hydronephrosis, Eczema, Dry skin |
ORPHA:634 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Long philtrum, Small hypothenar eminence, Everted lower lip vermilion, Abnormality of the urinary... |
ORPHA:96092 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Long philtrum, Carious teeth, Decreased muscle mass, Redundant skin, Cutis laxa, Smooth philtrum,... |
ORPHA:357074 |
| Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Hydronephrosis, Cleft palate, Renal hypopla... |
ORPHA:1926 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Thin skin, Flexion contracture, Abnormality of the dentition, Dermal atrophy, High palate, Lack o... |
ORPHA:90153 |
| Mesomelia-Synostoses Syndrome |
|
Long philtrum, Narrow mouth, Aplasia/Hypoplasia of the uvula, Hydronephrosis, Abnormal oral frenu... |
ORPHA:2496 |
| Sucrosuria, Hiatus Hernia And Mental Retardation |
|
Hiatus hernia |
OMIM:272000 |
| Ogden Syndrome |
|
Microretrognathia, Cutis laxa, Capillary malformation, Torticollis, High, narrow palate, Everted ... |
ORPHA:276432 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydronephrosis, Hydroureter |
OMIM:598500 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Cutis laxa |
OMIM:612379 |
| Fibrinolytic Defect |
|
Hyperextensible skin |
OMIM:134900 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hyperextensible skin |
OMIM:615937 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Thin skin, Skeletal muscle hypertrophy, Xanthomatosis, Muscle hypertrophy of the lower extremitie... |
ORPHA:280365 |
| Koolen-De Vries Syndrome |
|
Abnormal dental enamel morphology, Narrow palate, Everted lower lip vermilion, High, narrow palat... |
ORPHA:96169 |
| De Barsy Syndrome |
|
Delayed eruption of teeth, Decreased muscle mass, Narrow mouth, Dermal translucency, Small, conic... |
ORPHA:2962 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Soft, doughy skin, Renal neoplasm, Carious teeth, Long philtrum, Dermal translucency, Thin skin, ... |
ORPHA:536467 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Camptodactyly of finger, Micrognathia, Hydronephrosis, Hypoplasia of penis |
ORPHA:2083 |
| Lamellar Ichthyosis |
|
Pruritus, Erythroderma, Everted lower lip vermilion, Chronic otitis media, Abnormality of the den... |
ORPHA:313 |
| Periventricular Nodular Heterotopia |
|
Thin skin, Patent ductus arteriosus |
ORPHA:98892 |
| Even-Plus Syndrome |
|
Atopic dermatitis, Aplasia cutis congenita, Renal hypoplasia, Recurrent urinary tract infections,... |
OMIM:616854 |
| Meier-Gorlin Syndrome 1 |
|
Narrow mouth, Thick lower lip vermilion, Thin skin, Camptodactyly, Flexion contracture, Joint con... |
OMIM:224690 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Oligodontia, Horseshoe kidney, Narrow palate, Narrow mouth, Conical in... |
OMIM:235510 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Soft skin, Atrophic scars, Hyperextensible skin, Premature osteoarthritis, Malar flattening |
OMIM:130060 |
| Blepharonasofacial Malformation Syndrome |
|
Long philtrum, Redundant skin, Non-midline cleft lip, Tooth agenesis, Cleft palate |
ORPHA:1252 |
| Thanatophoric Dysplasia |
|
Redundant skin, Patent ductus arteriosus, Abnormality of the kidney |
ORPHA:2655 |
| Distal Tetrasomy 15Q |
|
Horseshoe kidney, Camptodactyly, Flexion contracture, Patent ductus arteriosus, Nephroblastoma, P... |
ORPHA:314588 |
| Takenouchi-Kosaki Syndrome |
|
Long philtrum, Short philtrum, Downturned corners of mouth, Webbed neck, Camptodactyly, Nevus, Un... |
OMIM:616737 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Aplasia cutis congenita, Atrophic scars, Scarring alopecia of scalp, Oral muco... |
ORPHA:79402 |
| Eec Syndrome |
|
Urethral atresia, Carious teeth, Abnormal dental enamel morphology, Taurodontia, Nevus, Tooth age... |
ORPHA:1896 |
| Pseudoxanthoma Elasticum |
|
Renovascular hypertension, Yellow papule, White oral mucosal macule, Cutis laxa |
OMIM:264800 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Atrophic scars, Subcutaneous nodule, Skin plaque, Dermal atrophy, Milia, Papule |
ORPHA:89843 |
| Genitopatellar Syndrome |
|
Long philtrum, Delayed eruption of teeth, Arthrogryposis multiplex congenita, Multicystic kidney ... |
ORPHA:85201 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Webbed neck, Flexion contracture, Unilateral cleft lip, Hydronephrosis, Cleft palate, Hypospadias... |
OMIM:616897 |
| Localized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Abnormality of dental color, Dental enamel pits, Aplasia cutis congenita, Atyp... |
ORPHA:251393 |
| Recombinant 8 Syndrome |
|
Camptodactyly of finger, Downturned corners of mouth, Redundant skin, Chronic otitis media, Paten... |
ORPHA:96167 |
| Cardiofaciocutaneous Syndrome |
|
Long philtrum, Redundant skin, Webbed neck, Hyperextensible skin, Dry skin, Hydronephrosis, Hypop... |
ORPHA:1340 |
| Intrinsic Factor Deficiency |
|
Malabsorption, Absence of intrinsic factor |
OMIM:261000 |
| Barber-Say Syndrome |
|
Delayed eruption of teeth, Thin vermilion border, Redundant skin, Mandibular prognathia, Wide mou... |
OMIM:209885 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Pruritus, Periodontitis, Moderate albuminuria, Premature loss of teeth, Hydronephrosis, Dentinoge... |
OMIM:619269 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Thin skin, Cutis laxa, Narrow mouth |
OMIM:219150 |
| Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Dermal atrophy, Anetoderma |
OMIM:250450 |
| Diabetes Insipidus, Neurohypophyseal Type |
|
Polyuria, Hydronephrosis |
OMIM:304900 |
| Marshall-Smith Syndrome |
|
Open mouth, Thin skin, Protruding tongue, Gingival overgrowth, Retrognathia |
ORPHA:561 |
| Costello Syndrome |
|
Macroglossia, Abnormal dental enamel morphology, Narrow palate, Thickened Achilles tendon, Redund... |
ORPHA:3071 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Pyelonephritis, Redundant skin, Cutis laxa, Recurrent urinary tract infections, Multiple bladder ... |
ORPHA:90349 |
| Menkes Disease |
|
Cutis laxa |
OMIM:309400 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Pyelonephritis, Melanocytic nevus, Keloids, Renal dysplasia, Torticollis, Nephritis, Unilateral r... |
OMIM:314300 |
| Hardikar Syndrome |
|
Pruritus, Hydroureter, Recurrent urinary tract infections, Patent ductus arteriosus, Cholangitis,... |
OMIM:612726 |
| Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Sialadenitis, Abnormal salivary gland morphology, Enlargement of paroti... |
ORPHA:449432 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Dysuria, Unilateral renal hypoplasia, Hematuria, Acute kidney injury, Renovascular hypertension, ... |
ORPHA:49041 |
| Rin2 Syndrome |
|
Long philtrum, Redundant skin, Hyperextensible skin, Irregular dentition, Abnormal lip morphology... |
ORPHA:217335 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Soft, doughy skin, Thin skin, Atypical scarring of skin, Hyperextensible skin, Bladder diverticul... |
ORPHA:536545 |
| Trisomy 1Q |
|
Camptodactyly of finger, Narrow mouth, Microretrognathia, Congenital megaureter, Patent ductus ar... |
ORPHA:261344 |
| Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Papule, Skin ulcer, Aplasia/Hypoplasia of the skin |
ORPHA:409 |
| Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Narrow palate, Advanced eruption of teeth, Abnormality of dental morph... |
ORPHA:192 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Long philtrum, Everted lower lip vermilion, Camptodactyly, Thin upper lip vermilion, Hydronephros... |
OMIM:612513 |
| Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Micrognathia, Hydronephrosis, Cleft palate |
OMIM:220210 |
| Focal Facial Dermal Dysplasia Type I |
|
Aplasia cutis congenita, Downturned corners of mouth, Spotty hypopigmentation, Atrophic scars, Th... |
ORPHA:79133 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Soft skin, Proximal amyotrophy, Unilateral renal agenesis, Hyperextensible skin, Vesicoureteral r... |
OMIM:606408 |
| Thanatophoric Dysplasia Type 2 |
|
Redundant skin, Patent ductus arteriosus, Abnormality of the kidney |
ORPHA:93274 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Short philtrum, Microphallus, Renal hypoplasia, Patent ductus arteriosus, Wide mouth, Smooth phil... |
OMIM:618454 |
| Kleefstra Syndrome |
|
Delayed eruption of teeth, Macroglossia, Downturned corners of mouth, Mandibular prognathia, Chro... |
ORPHA:261494 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Redundant neck skin, Lacticaciduria, Elevated urinary 4-hydroxybutyric acid |
OMIM:619003 |
| Geroderma Osteodysplasticum |
|
Periodontitis, Mandibular prognathia, Camptodactyly, Cutis laxa, Malar flattening, Hypoplasia of ... |
OMIM:231070 |
| Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
High palate, Limb hypertonia, Hydronephrosis, Cleft palate |
ORPHA:488613 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Long philtrum, Diastasis recti, Abnormality of the mouth, Arthrogryposis multiplex congenita, Nar... |
OMIM:601776 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Smooth philtrum, Malar flattening, Thin upper lip vermilion, Redundant neck skin, Hydronephrosis,... |
OMIM:235255 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Redundant skin, Malar flattening |
OMIM:612940 |
| Marden-Walker Syndrome |
|
Arthrogryposis multiplex congenita, Narrow mouth, Hydroureter, Muscular dystrophy, Aplasia/Hypopl... |
ORPHA:2461 |
| Raine Syndrome |
|
Enamel hypoplasia, Arthrogryposis multiplex congenita, Narrow mouth, Hydroureter, Mandibular prog... |
OMIM:259775 |
| Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Camptodactyly of finger, Abnormality of dental morphology, Hydroureter... |
ORPHA:568 |
| Adult Syndrome |
|
Abnormality of dental morphology, Thin skin, Melanocytic nevus, Abnormality of the dentition, Ski... |
ORPHA:978 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Tooth malposition, Craniofacial hyperostosis, Vesicoureteral reflux, H... |
ORPHA:2484 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Thin skin, Abnormality of the dentition |
OMIM:607823 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Arthrogryposis multiplex congenita, Duplicated collecting system, Hypodontia, Redundant neck skin... |
OMIM:301056 |
| 22Q11.2 Duplication Syndrome |
|
Micrognathia, Smooth philtrum, Urethral stenosis, Hydronephrosis, Cleft palate, Displacement of t... |
ORPHA:1727 |
| Benign Schwannoma |
|
Abnormal parotid gland morphology, Abnormal esophagus morphology, Intestinal polyposis |
ORPHA:252164 |
| Arterial Tortuosity Syndrome |
|
Long philtrum, Cutis laxa, Flexion contracture, Congenital diaphragmatic hernia, High palate, Sof... |
OMIM:208050 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Soft skin, Tendon rupture, Aplasia/Hypoplasia of the abdominal wall musculature, Thin skin, Abnor... |
ORPHA:285 |
| Orofaciodigital Syndrome Type 1 |
|
Open bite, Abnormal dental enamel morphology, Tongue nodules, Odontogenic neoplasm, Hamartoma of ... |
ORPHA:2750 |
| Cranioectodermal Dysplasia 2 |
|
High palate, Everted lower lip vermilion, Cutis laxa, Smooth philtrum, Patent ductus arteriosus, ... |
OMIM:613610 |
| Igg4-Related Kidney Disease |
|
Hematuria, Acute kidney injury, Pericarditis, Interstitial pneumonitis, Urinary bladder inflammat... |
ORPHA:449395 |
| Noonan Syndrome 4 |
|
Webbed neck, Ureteral duplication, Wide mouth, Thick vermilion border, Hydronephrosis, Dental mal... |
OMIM:610733 |
| Carpenter Syndrome 1 |
|
Agenesis of permanent teeth, Hydroureter, Camptodactyly, Patent ductus arteriosus, Persistence of... |
OMIM:201000 |
| X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
| Khan-Khan-Katsanis Syndrome |
|
Renal hypoplasia, Flexion contracture, Patent ductus arteriosus, Tented upper lip vermilion, Sacr... |
OMIM:618460 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Narrow mouth, Thin skin, Abnormality of the dentition, Dermal atrophy, Calcinosis, Micrognathia |
ORPHA:90154 |
| Epidermolysis Bullosa, Junctional, Herlitz Type |
|
Enamel hypoplasia, Carious teeth, Atrophic scars, Congenital localized absence of skin, Milia |
OMIM:226700 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Soft skin, Osteoarthritis, Striae distensae, Hyperextensible skin |
OMIM:130020 |
| Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Yellow papule, Cutis laxa |
OMIM:610842 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Long philtrum, Dermal translucency, Thin skin, Webbed neck, Patent ductus arteriosus, Smooth phil... |
OMIM:617506 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Narrow palate, Enlarged kidney, Increased muscle lipid content, High palate, Hydronephrosis, Poly... |
OMIM:608836 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Skin erosion, Hydroureter, Recurrent urinary tract infections, Duplicated coll... |
ORPHA:79404 |
| Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Malar rash, Nephritis, Arthritis |
OMIM:152700 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Cutis laxa, Thick vermilion border |
OMIM:314400 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Atrophic scars, Myopathy, Hyperextensible skin, Skeletal muscle atrophy |
ORPHA:300179 |
| 15Q Overgrowth Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Abnormal renal morphology, U... |
ORPHA:314585 |
| Trisomy 20P |
|
Camptodactyly of finger, Thin vermilion border, Multiple renal cysts, Short philtrum, Downturned ... |
ORPHA:261318 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal dental enamel morphology, Facial hyperostosis, Abnormal penis morphology, Mandibular pro... |
ORPHA:2658 |
| Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Congenital megaureter, Aplasia of the left hemidiaphragm, Ab... |
ORPHA:2437 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Thin skin, Striae distensae, Skeletal muscle atrophy |
OMIM:219080 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Abnormal dental enamel morphology, Dermal atrophy, Aplasia/Hypoplasia of the skin, Papule, Myopat... |
ORPHA:257 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Downturned corners of mouth, Microretrognathia, Patent ductus arteriosus, Preauricular pit, Thin ... |
ORPHA:457193 |
| Endove Syndrome, Limb-Brain Type |
|
Neurogenic bladder, Recurrent urinary tract infections, Osteomyelitis, Hydronephrosis |
OMIM:619218 |
| Complement Factor I Deficiency |
|
Pyelonephritis, Recurrent otitis media, Recurrent sinusitis, Recurrent urinary tract infections, ... |
OMIM:610984 |
| Oligodontia |
|
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... |
ORPHA:99798 |
| Tarp Syndrome |
|
Horseshoe kidney, Tongue nodules, Hydronephrosis, Glossoptosis, Cleft palate, High palate, Microg... |
OMIM:311900 |
| Kindler Epidermolysis Bullosa |
|
Inflammation of the large intestine, Esophagitis, Carious teeth, Abnormal dental enamel morpholog... |
ORPHA:2908 |
| Anauxetic Dysplasia 3 |
|
Oligodontia, Retrognathia, Cutis laxa |
OMIM:618853 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Thin skin, Striae distensae, Skeletal muscle atrophy, Nephrolithiasis, Acne |
ORPHA:99889 |
| Kaufman Oculocerebrofacial Syndrome |
|
Carious teeth, Narrow mouth, Thin skin, Diastema, Smooth philtrum, Preauricular skin tag, Thin up... |
OMIM:244450 |
| Mosaic Trisomy 8 |
|
Camptodactyly of finger, Arthrogryposis multiplex congenita, Hypopigmented skin patches, Vesicour... |
ORPHA:96061 |
| Wiedemann-Rautenstrauch Syndrome |
|
Delayed eruption of teeth, Narrow mouth, Long penis, Downturned corners of mouth, Premature skin ... |
OMIM:264090 |
| 9Q21.13 Microdeletion Syndrome |
|
Abnormal tongue morphology, Hydronephrosis, Downturned corners of mouth |
ORPHA:531151 |
| Webb-Dattani Syndrome |
|
Neurogenic bladder, Retrognathia, Vesicoureteral reflux, Hydronephrosis |
OMIM:615926 |
| Occipital Horn Syndrome |
|
Ureteral obstruction, Long philtrum, Soft skin, Redundant skin, Hyperextensible skin, Bladder div... |
OMIM:304150 |
| Barber-Say Syndrome |
|
Delayed eruption of teeth, Redundant skin, Wide mouth, Hyperextensible skin, Aplasia/Hypoplasia o... |
ORPHA:1231 |
| Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Oligodontia, Abnormality of the dentition, Hydronephrosis, Hypoplasia ... |
ORPHA:2315 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Short philtrum, Contracture of the proximal interphalangeal joint of the 5th finger, Webbed neck,... |
OMIM:280000 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Esophagitis, Dermal translucency, Duplicated collecting system, Hyperextensible skin, Hydronephro... |
ORPHA:541423 |
| Osteogenesis Imperfecta, Type Ii |
|
Thin skin |
OMIM:166210 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Seborrheic dermatitis, Eczematoid dermatitis, Redundant skin, Patent ductus arteriosus, Erythema,... |
OMIM:259100 |
| Ogden Syndrome |
|
Facial wrinkling, Microretrognathia, Redundant skin, Deep philtrum, Cutis laxa, Thick upper lip v... |
OMIM:300855 |
| Pseudoxanthoma Elasticum |
|
Skin rash, Pruritus, Subcutaneous nodule, Hyperextensible skin, Striae distensae, High palate, La... |
ORPHA:758 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Long philtrum, Narrow mouth, Microretrognathia, Webbed neck, Cutis laxa, Hyperextensible skin, Co... |
OMIM:245600 |
| C Syndrome |
|
Long philtrum, Thin vermilion border, Horseshoe kidney, Redundant skin, Smooth philtrum, Sacral d... |
ORPHA:1308 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Redundant skin, Congenital diaphragmatic hernia, Bladder diverticulum |
OMIM:219100 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Macroglossia, Albuminuria, Micrognathia, High palate, Patent ductus arteriosus, Aminoaciduria, Pr... |
OMIM:214100 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Narrow palate, Tooth malposition, Redundant skin, Periodontitis, Webbed neck, Long uvula, Hyperex... |
ORPHA:536532 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
| Lichen Planopilaris |
|
Pruritus, Neoplasm of the oral cavity, Dermal atrophy, Hepatitis, Hypopigmented skin patches, Pap... |
ORPHA:525 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Long philtrum, Thin vermilion border, Open mouth, Patent ductus arteriosus, Bladder trabeculation... |
OMIM:614080 |
| Symptomatic Form Of Fragile X Syndrome In Female Carrier |
|
Thin skin, Recurrent otitis media, Mandibular prognathia |
ORPHA:449291 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Thin skin, Striae distensae |
OMIM:610475 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Thin skin, Striae distensae |
OMIM:610489 |
| Arterial Tortuosity Syndrome |
|
Esophagitis, Median cleft lip and palate, Thin skin, Redundant skin, Abnormality of the zygomatic... |
ORPHA:3342 |
| 3C Syndrome |
|
Preauricular skin tag, Oral cleft, Cleft palate, Hydronephrosis, Hypoplasia of penis, Hypospadias... |
ORPHA:7 |
| Cousin Syndrome |
|
Camptodactyly, Microglossia, Hydronephrosis, Wrist flexion contracture, Joint contracture of the ... |
OMIM:260660 |
| Acrofrontofacionasal Dysostosis 2 |
|
Hypospadias, High palate, Sacral dimple, Redundant neck skin |
OMIM:239710 |
| Koolen-De Vries Syndrome |
|
Narrow palate, Open mouth, High palate, Everted lower lip vermilion, Recurrent urinary tract infe... |
OMIM:610443 |
| Vacterl/Vater Association |
|
Renal agenesis, Non-midline cleft lip, Multicystic kidney dysplasia, Cleft palate, Abnormality of... |
ORPHA:887 |
| Nijmegen Breakage Syndrome |
|
Recurrent pneumonia, Bronchiectasis, Recurrent urinary tract infections, Cleft palate, Hydronephr... |
OMIM:251260 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal renal morphology, Smooth philtrum, Thin upper lip vermilion, Redundant neck skin, Hydron... |
ORPHA:1655 |
| Alport Syndrome 3, Autosomal Dominant |
|
Renal insufficiency, Hematuria, Glomerulonephritis, Glomerular basement membrane lamellation, Sta... |
OMIM:104200 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Male urethral meatus stenosis... |
ORPHA:464738 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Multiple renal cysts, Horseshoe kidney, Webbed neck, Patent ductus arter... |
ORPHA:99776 |
| Teebi-Shaltout Syndrome |
|
Oligodontia, Horseshoe kidney, Narrow mouth, Camptodactyly, Wide mouth, Smooth philtrum, Hydronep... |
OMIM:272950 |
| Al Amyloidosis |
|
Macroglossia, Gastrointestinal hemorrhage, Dysphagia, Abnormality of the gastrointestinal tract, ... |
ORPHA:85443 |
| Chime Syndrome |
|
Short philtrum, Abnormality of dental morphology, Abnormality of the dentition, Thick vermilion b... |
ORPHA:3474 |
| Granulomatosis With Polyangiitis |
|
Prostatitis, Skin rash, Abnormal oral cavity morphology, Hematuria, Pericarditis, Increased infla... |
ORPHA:900 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Renal dysplasia, Vesicoureteral reflux, Hydronephrosis, Polycystic kid... |
ORPHA:2237 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Long philtrum, Soft skin, Narrow mouth, Thin skin, Atrophic scars, Long upper lip, Abnormality of... |
ORPHA:536471 |
| Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Hematuria, Glomerular basement membrane lamellation, Stage 5 chronic kidney ... |
OMIM:203780 |
| Chromosome 17Q12 Deletion Syndrome |
|
Abnormality of upper lip, Hypoplasia of the bladder, Renal hypoplasia, Mandibular prognathia, Rec... |
OMIM:614527 |
| Weaver Syndrome |
|
Long philtrum, Diastasis recti, Mandibular prognathia, Camptodactyly, Cutis laxa, Joint contractu... |
OMIM:277590 |
| Kabuki Syndrome |
|
Crossed fused renal ectopia, Abnormality of dental morphology, High palate, Duplicated collecting... |
ORPHA:2322 |
| Fryns Syndrome |
|
Long philtrum, High palate, Wide mouth, Non-midline cleft lip, Multicystic kidney dysplasia, Tent... |
ORPHA:2059 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Macroglossia, Everted lower lip vermilion, Flexion contracture, Recurrent urinary tract infection... |
ORPHA:847 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Neurogenic bladder, Narrow mouth, Smooth philtrum, Thick vermilion border, Protruding tongue, Hyd... |
OMIM:608779 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Scapular winging, Deep philtrum, Nevus, Vesicoureteral reflux, Redundant skin in infancy |
OMIM:150230 |
| Wiedemann-Rautenstrauch Syndrome |
|
Narrow mouth, Downturned corners of mouth, Dilatation of renal calices, Thin skin, Natal tooth, R... |
ORPHA:3455 |
| Microphthalmia, Syndromic 9 |
|
Horseshoe kidney, Renal malrotation, Renal hypoplasia, Diaphragmatic eventration, Patent ductus a... |
OMIM:601186 |
| Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
| Cerebellar-Facial-Dental Syndrome |
|
Long philtrum, Taurodontia, Macrodontia of permanent maxillary central incisor, Ureteropelvic jun... |
ORPHA:444072 |
| Thakker-Donnai Syndrome |
|
Narrow mouth, Downturned corners of mouth, Webbed neck, Hydronephrosis, Congenital diaphragmatic ... |
ORPHA:1780 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Renal agenesis, Flexion contracture, Erythema, Hydronephrosis, Cleft upper lip, Renal hypoplasia/... |
OMIM:308050 |
| Gapo Syndrome |
|
Long philtrum, Delayed eruption of teeth, Mandibular prognathia, Everted lower lip vermilion, Abn... |
ORPHA:2067 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Long philtrum, Protruding tongue, Hydronephrosis, Gingival overgrowth, Recurrent pneumonia |
OMIM:619179 |
| Lysinuric Protein Intolerance |
|
Cutis laxa, Aminoaciduria, Hyperextensible skin, Pancreatitis, Stage 5 chronic kidney disease, Or... |
OMIM:222700 |
| Thyrocerebroretinal Syndrome |
|
Nephritis, Skeletal muscle atrophy |
OMIM:274240 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Scarring alopecia of scalp, Abnormality of the dentition, Erythema, Aplasia/Hypoplasia of the ski... |
ORPHA:35173 |
| Superficial Epidermolytic Ichthyosis |
|
Thin skin, Erythema |
ORPHA:455 |
| Zellweger Syndrome |
|
Abnormality of the tongue, High palate, Multicystic kidney dysplasia, Hydronephrosis, Hypospadias... |
ORPHA:912 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Long philtrum, Short philtrum, Downturned corners of mouth, Webbed neck, Camptodactyly, Flexion c... |
ORPHA:487796 |
| Fechtner syndrome |
|
Hematuria, Nephritis, Stage 5 chronic kidney disease, Proteinuria |
OMIM:153640 |
| Thanatophoric Dysplasia Type 1 |
|
Patent ductus arteriosus, Redundant skin, Excessive wrinkled skin, Abnormality of the kidney |
ORPHA:1860 |
| Aplasia Cutis Congenita |
|
Facial palsy, Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized abs... |
ORPHA:1114 |
| 7Q11.23 Microduplication Syndrome |
|
Thin vermilion border, Short philtrum, Drooling, High palate, Chronic otitis media, Unilateral re... |
ORPHA:96121 |
| Vascular Ehlers-Danlos Syndrome |
|
Thin vermilion border, Carious teeth, Cigarette-paper scars, Narrow mouth, Thin skin, Gingivitis,... |
ORPHA:286 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Macroglossia, Renal agenesis, Thick lower lip vermilion, Malar flattening, Protruding tongue, Hyd... |
OMIM:301040 |
| Loeys-Dietz Syndrome |
|
Camptodactyly of finger, Thin skin, Atypical scarring of skin, Patent ductus arteriosus, Oral cle... |
ORPHA:60030 |
| Beckwith-Wiedemann Syndrome |
|
Nevus flammeus, Macroglossia, Multiple renal cysts, Diastasis recti, Enlarged kidney, Congenital ... |
ORPHA:116 |
| Williams-Beuren Syndrome |
|
Open mouth, Cutis laxa, Recurrent urinary tract infections, Hypercalciuria, Vesicoureteral reflux... |
OMIM:194050 |
| Cardiofaciocutaneous Syndrome 1 |
|
Open bite, Atopic dermatitis, Open mouth, Webbed neck, Deep philtrum, Abnormality of the dentitio... |
OMIM:115150 |
| Aarskog-Scott Syndrome |
|
Long philtrum, Delayed eruption of teeth, Camptodactyly of finger, Everted lower lip vermilion, A... |
ORPHA:915 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
| Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified |
|
Eczematoid dermatitis, Cigarette-paper scars, Micrognathia, Hyperextensible skin |
OMIM:130090 |
| Micro Syndrome |
|
Short philtrum, Abnormal localization of kidney, Hydronephrosis, Hypoplasia of penis, High palate... |
ORPHA:2510 |
| Otopalatodigital Syndrome Type 2 |
|
Ureteral obstruction, Oligodontia, Camptodactyly of finger, Narrow mouth, Pierre-Robin sequence, ... |
ORPHA:90652 |
| Flynn-Aird Syndrome |
|
Dermal atrophy, Carious teeth |
OMIM:136300 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Atypical scarring of skin, Lack of skin elasticity, Subcutaneous nodule, Aplasia/Hypoplasia of th... |
ORPHA:1366 |
| Enamel-Renal Syndrome |
|
Impaired renal concentrating ability, Delayed eruption of teeth, Abnormal dental enamel morpholog... |
ORPHA:1031 |
| Feingold Syndrome Type 1 |
|
Nephritis, Horseshoe kidney, Patent ductus arteriosus, Renal dysplasia, Vesicoureteral reflux, Hy... |
ORPHA:391641 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Long philtrum, Patent ductus arteriosus, Smooth philtrum, Abnormality of the dentition, Sacral di... |
OMIM:300968 |
| Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Microglossia, Hydronephrosis, Cleft palate, Micrognathia, Thick anterior... |
ORPHA:2839 |
| Apert Syndrome |
|
Delayed eruption of teeth, Narrow palate, Mandibular prognathia, Chronic otitis media, Hydronephr... |
OMIM:101200 |
| Plasminogen Deficiency, Type I |
|
Nephritis, Periodontitis, Conjunctivitis, Gingival overgrowth, Gingivitis, Nephrolithiasis |
OMIM:217090 |
| Osteogenesis Imperfecta |
|
Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Delayed eruption o... |
ORPHA:666 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Nevus flammeus, Long philtrum, Macroglossia, Dental crowding, Malar flattening, Thin upper lip ve... |
OMIM:268310 |
| 15q26 overgrowth syndrome |
|
Long philtrum, Camptodactyly of finger, Horseshoe kidney, Mandibular prognathia, High palate, Ves... |
