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Gene: Dcn MGI:94872

Gene Summary

Name:

decorin

Synonyms:

SLRR1B, DC

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

No results meet the p-value threshold

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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DSS Histology

Images

6 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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X-ray

XRay Images Forepaw

14 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Dcn^{em1(IMPC)Wtsi}
HOM, Male, WTSI

View all 73 images

Dcn^{em1(IMPC)Wtsi}
abnormal snout morphology, head, asymmetric snout, HOM, Male, WTSI

Dcn^{em1(IMPC)Wtsi}
abnormal coat/hair pigmentation, HOM, Male, WTSI

Dcn^{em1(IMPC)Wtsi}
abnormal snout morphology, head, upturned snout, HOM, Male, WTSI

Dcn^{em1(IMPC)Wtsi}
kinked tail, HOM, Male, WTSI

Dcn^{em1(IMPC)Wtsi}
asymmetric snout, abnormal snout morphology, head, HOM, Male, WTSI

View all 6 images

Human diseases caused by Dcn mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Dcn (1 diseases)
Human diseases predicted to be associated with Dcn (841 diseases)

The table below shows human diseases associated to Dcn by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Corneal Dystrophy, Congenital Stromal			OMIM:610048

The table below shows human diseases predicted to be associated to Dcn by phenotypic similarity.

Disease	Matching phenotypes	Source
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
Lymphoma, Mucosa-Associated Lymphoid Type	Gastric lymphoma	OMIM:137245
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Ciliary Discoordination Due To Random Ciliary Orientation	Recurrent infections	OMIM:215518
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Gastric Cancer	Stomach cancer	OMIM:613659
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections	OMIM:308220
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Abnormal salivary gland morphology	ORPHA:3225
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Periodontal Ehlers-Danlos Syndrome	Hypermelanotic macule, Premature loss of primary teeth, Micrognathia, Gingival overgrowth, Agenes...	ORPHA:75392
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu...	ORPHA:70592
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Elastosis Perforans Serpiginosa	Skin-colored papule, Crusting erythematous dermatitis, Cutis laxa, Hyperkeratotic papule, Erythem...	ORPHA:79148
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Invasive Mole	Menometrorrhagia	ORPHA:99925
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Granulomatous Slack Skin	Redundant skin, Erythema, Cutis laxa, Nephrocalcinosis, Acute kidney injury	ORPHA:33111
Fetal Encasement Syndrome	Congenital diaphragmatic hernia, Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe ki...	OMIM:613630
Immunodeficiency 35	Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections...	OMIM:611521
Kimura Disease	Abnormal salivary gland morphology	ORPHA:482
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
2p15-16.1 microdeletion syndrome	Camptodactyly of finger, Hydronephrosis	DECIPHER:70
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613495
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Bifid uvula, Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections	OMIM:613796
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Recurrent candida infections	OMIM:242870
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis, Abnormal palate morphology	ORPHA:1450
Elastoderma	Eczema, Skin nodule, Cutis laxa, Premature skin wrinkling, Erysipelas, Papule	ORPHA:228240
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Dermoodontodysplasia	Dry skin, Hypodontia, Thin skin	OMIM:125640
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor	OMIM:243320
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Ehlers-Danlos Syndrome, Classic Type, 2	Subcutaneous spheroids, Cigarette-paper scars, Atrophic scars, Hyperextensible skin, Molluscoid p...	OMIM:130010
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Amyloidosis, Finnish Type	Nephrotic syndrome, Renal insufficiency, Cutis laxa	OMIM:105120
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Eczema, Premature loss of primary teeth, Abnormality of the dentition...	ORPHA:1810
6P22 Microdeletion Syndrome	Patent ductus arteriosus, Redundant skin, Hydronephrosis, Abnormal palate morphology	ORPHA:251046
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Camptodactyly of finger, Thenar muscle atrophy, Cigarette-paper scars,...	OMIM:612350
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul...	ORPHA:263665
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco...	OMIM:613496
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Absence Of Fingerprints-Congenital Milia Syndrome	Milia, Camptodactyly of finger, Skin rash, Thin skin	ORPHA:1658
Dermoodontodysplasia	Mandibular prognathia, Melanocytic nevus, Tooth agenesis, Thin skin, Microdontia, Dry skin	ORPHA:1660
Acrogeria	Aplasia/Hypoplasia of the skin, Micrognathia, Skin ulcer, Excessive wrinkled skin, Thin skin	ORPHA:2500
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Increased number of skin folds, Redundant skin, Papule, Cutis laxa	ORPHA:436274
X-Linked Intellectual Disability, Schimke Type	Hip contracture, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, ...	ORPHA:85285
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Flexion contracture, Abnormality of primary teeth, Gingivitis, Cutis lax...	ORPHA:75496
Congenital Disorder Of Glycosylation, Type Iir	Micrognathia, Hypospadias, Cutis laxa	OMIM:301045
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis	OMIM:618913
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
Macdermot-Winter Syndrome	Camptodactyly of finger, Hydronephrosis	OMIM:247990
Hereditary Amyloidosis With Primary Renal Involvement	Renal insufficiency, Purpura, Proteinuria, Petechiae, Renal interstitial amyloid deposits, Noctur...	ORPHA:85450
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis	OMIM:263000
Prolidase Deficiency	Recurrent cystitis, Aplasia/Hypoplasia of the skin, Micrognathia, Carious teeth, Pruritus, Erythe...	ORPHA:742
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Renal Hypodysplasia/Aplasia 2	Bilateral renal agenesis, Redundant skin	OMIM:615721
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Tubulointerstitial fibrosis	OMIM:232500
Hereditary Acrokeratotic Poikiloderma	Abnormality of the urethra, Gingivitis, Papule, Open bite, Skin ulcer, Gingival bleeding, Narrow ...	ORPHA:2907
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M...	ORPHA:2494
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections	OMIM:608957
Congenital Myopathy 19	Skeletal muscle atrophy, Facial hypotonia, Micrognathia, Renal atrophy, Congenital contracture, H...	OMIM:618578
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Melena, Fundic gland polyposis, Gastric adenocarcinoma	OMIM:619182
Weaver Syndrome	Hypoplasia of penis, Redundant skin, Camptodactyly of finger, Micrognathia, Deep philtrum, Long p...	ORPHA:3447
Brooke-Spiegler Syndrome	Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo...	ORPHA:79493
Variant Abeta2M Amyloidosis	Intestinal perforation, Gastrointestinal infarctions, Abnormality of the tongue, Abnormal salivar...	ORPHA:314652
Congenital Heart Defects And Ectodermal Dysplasia	Premature loss of primary teeth, Widely spaced teeth, Thin skin, Microdontia, Dry skin	OMIM:617364
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation	ORPHA:2978
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Abnormal dental morphology, Eczema, Abnormality of the dentition, Hypoplasia of the ma...	ORPHA:238468
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Aplasia cutis congenita on trunk or limbs, Oral mucosal blisters, Abnormality of...	ORPHA:158684
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Arthrochalasia Ehlers-Danlos Syndrome	Hyperextensible skin, Retrognathia, Thin skin, Micrognathia	ORPHA:1899
Familial Partial Lipodystrophy, Dunnigan Type	Glomerulopathy, Aplasia/Hypoplasia of the skin, Abnormality of skeletal muscle fiber size, Skelet...	ORPHA:2348
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hyperextensible skin, Flexion contracture, Thin skin, Thenar muscle atrophy	ORPHA:157965
Focal Dermal Hypoplasia	Macule, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the skin, Abnormal dental morphology,...	ORPHA:2092
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Rapp-Hodgkin Syndrome	Hypospadias, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, Velopharyngeal insufficie...	OMIM:129400
Cat-Eye Syndrome	Preauricular pit, Renal hypoplasia/aplasia, Abnormal localization of kidney, Preauricular skin ta...	ORPHA:195
Autosomal Dominant Deafness-Onychodystrophy Syndrome	Oligodontia, Small, conical teeth, Aplasia cutis congenita, Abnormality of the dentition	ORPHA:79499
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy	ORPHA:1962
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Striae distensae, Atypical scarring of skin, Hyperextensible skin, Thin skin, Petechiae	OMIM:225310
Congenital Heart Defects And Skeletal Malformations Syndrome	Hypospadias, Dental crowding, Congenital diaphragmatic hernia, Carious teeth, Downturned corners ...	OMIM:617602
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency	Redundant skin, Papule, Cutis laxa	ORPHA:91135
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Muir-Torre Syndrome	Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Adenoma sebaceum, Colon ...	ORPHA:587
19Q13.11 Microdeletion Syndrome	Hypospadias, Retrognathia, Wide mouth, Thin vermilion border, Thin skin, Solitary median maxillar...	ORPHA:217346
Focal Facial Dermal Dysplasia Type Iii	Aplasia/Hypoplasia of the skin, Redundant skin, Abnormality of the upper urinary tract, Hypopigme...	ORPHA:1807
Gapo Syndrome	Epidermoid cyst, Redundant skin, Facial palsy, Micrognathia, High, narrow palate, Thick lower lip...	OMIM:230740
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile...	OMIM:619079
X-Linked Ehlers-Danlos Syndrome	Hyperextensible skin, Thin skin	ORPHA:75497
Dysmorphism-Cleft Palate-Loose Skin Syndrome	Redundant skin, Cleft palate, Micrognathia	ORPHA:1779
8P23.1 Duplication Syndrome	Thick vermilion border, Hydronephrosis, Long philtrum	ORPHA:251076
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Distal lower limb amyotrophy, Distal upper limb amyotrophy, Hyperextensible skin, Distal lower li...	OMIM:619764
Distal Duplication 6P	Sacral dimple, Micrognathia, Renal hypoplasia, Abnormality of the urinary system, Thin vermilion ...	ORPHA:1745
Iga Nephropathy, Susceptibility To, 1	Purpura, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the...	OMIM:161950
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Crusting erythematous dermatitis, Erythematous plaque, Thin skin, Dermal atrophy, Milia	ORPHA:158673
Cranioectodermal Dysplasia 4	Recurrent pneumonia, Stage 5 chronic kidney disease, Cutis laxa, Thin vermilion border, Taurodont...	OMIM:614378
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Ehlers-Danlos Syndrome, Periodontal Type, 2	Atypical scarring of skin, Hyperextensible skin, Periodontitis, Gingival bleeding, Gingival fragi...	OMIM:617174
Ehlers-Danlos Syndrome, Periodontal Type, 1	Alveolar bone loss around teeth, Atrophic scars, Hyperextensible skin, Periodontitis, Gingival bl...	OMIM:130080
Scarf Syndrome	Diastasis recti, Cutis laxa, Perineal hypospadias, Webbed neck, Long philtrum, Micropenis, Enamel...	ORPHA:3134
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Micrognathia, Skin dimple, Thin vermilion border, Short philtrum, Thin skin	ORPHA:261304
Macs Syndrome	Eclabion, Irregular dentition, Redundant skin, Micrognathia, Urethral stenosis, Gingival overgrow...	OMIM:613075
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ...	OMIM:263200
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Soft skin, Atrophic scars, Hyperextensible skin, Thin skin	OMIM:225320
Trichorhinophalangeal Syndrome Type 2	Thin upper lip vermilion, Recurrent urinary tract infections, Redundant skin, Abnormality of the ...	ORPHA:502
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Nephrolithiasis, Facial erythema, Thin skin, Ecchymosis, Striae distensa...	OMIM:219090
Orofaciodigital Syndrome Xv	Lobulated tongue, Hydronephrosis, Midline notch of upper alveolar ridge	OMIM:617127
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive	Aplasia cutis congenita, Congenital absence of skin of limbs	OMIM:600360
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Patent ductus arteriosus, Thick lower lip vermilion, Widely spaced tee...	OMIM:619797
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis	OMIM:161900
Tetraploidy	Micrognathia, Renal hypoplasia/aplasia, Cleft palate, Short philtrum, Preauricular skin tag, Hydr...	ORPHA:3305
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Abnormal dental enamel morphology, Retrognathia, Cleft palate, Hypoplasia of...	ORPHA:1812
Silver-Russell Syndrome 2	Downturned corners of mouth, Thin skin, Micrognathia	OMIM:618905
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Micrognathia, Abnormality of the dentition, Patent ductus arteriosus, T...	OMIM:179613
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Thin upper lip vermilion, Decreased muscle mass, Recurrent skin infections, Re...	ORPHA:2953
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Juvenile Hyaline Fibromatosis	Skeletal muscle atrophy, Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Subcut...	ORPHA:2028
Rafiq Syndrome	Thin upper lip vermilion, Flexion contracture, Cutis laxa, Short philtrum, Malar flattening, Smoo...	OMIM:614202
Trichothiodystrophy 8, Nonphotosensitive	Thin upper lip vermilion, Eczema, Cutis laxa, Long philtrum, Retrognathia	OMIM:619691
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura	ORPHA:743
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Familial Cervical Artery Dissection	Facial palsy, Thin skin, Striae distensae	ORPHA:36382
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Proteinuria, Thyroiditis, Carious teeth, Nephrolithiasis, Stage 5 chronic kidney disease, Oral ul...	ORPHA:79259
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach	OMIM:114500
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Micrognathia, Cleft palate, Vesicoureteral reflux, Arthrogryposis multiplex congenita, Retrognath...	OMIM:618265
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Ulerythema Ophryogenesis	Acne, Dry skin, Facial erythema, Hyperkeratotic papule, Dermal atrophy, Erythematous papule, Cont...	ORPHA:3406
Porokeratosis Of Mibelli	Pruritus, Aplasia/Hypoplasia of the skin	ORPHA:735
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Recurrent skin infections, Oral mucosal blisters, Urinary bladder inflammatio...	ORPHA:79403
Recon Progeroid Syndrome	Skeletal muscle atrophy, Prominence of the premaxilla, Dental crowding, Keratoconjunctivitis sicc...	OMIM:620370
Zaki Syndrome	Sacral dimple, Renal agenesis, Congenital diaphragmatic hernia, Micrognathia, Patent ductus arter...	OMIM:619648
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Hypermelanotic macule, Hypopigmented skin patches on arms, Recurrent otitis media, Rec...	OMIM:607944
Agel Amyloidosis	Tongue atrophy, Proteinuria, Facial palsy, Pruritus, Stage 5 chronic kidney disease, Cutis laxa, ...	ORPHA:85448
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Cleft ...	ORPHA:107
Cranioectodermal Dysplasia 3	Micrognathia, Stage 5 chronic kidney disease, Cutis laxa, Hypoplasia of teeth, Widely spaced teet...	OMIM:614099
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Xanthinuria, Type I	Xanthine nephrolithiasis, Xanthinuria, Pyelonephritis, Myopathy, Hydronephrosis	OMIM:278300
Oxoglutaric Aciduria	Abnormal salivary gland morphology	ORPHA:31
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Aplasia/Hypoplasia of the skin, Thin skin, Purpura	ORPHA:745
Weyers Ulnar Ray/Oligodactyly Syndrome	Micrognathia, Cleft upper lip, Cleft palate, High palate, Solitary median maxillary central incis...	OMIM:602418
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology	ORPHA:234
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal insufficiency, Patent ductus arteriosus, Renal hypoplasia	OMIM:615996
Cutis Laxa, Autosomal Recessive, Type Iiia	Cutis laxa, Distal amyotrophy, Hyperextensible skin, Thin skin, Narrow mouth	OMIM:219150
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hydronephrosis, Micrognathia	OMIM:607598
Bohring-Opitz Syndrome	Bilateral cleft palate, Sacral dimple, Nevus flammeus, Cleft upper lip, Micrognathia, Flexion con...	OMIM:605039
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Image Syndrome	Hypospadias, Hydronephrosis	ORPHA:85173
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Suleiman-El-Hattab Syndrome	Microretrognathia, Thin upper lip vermilion, Blue nevus, Thick lower lip vermilion, Webbed neck, ...	OMIM:618950
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Wide mouth, Renal corticomedull...	OMIM:243910
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ...	OMIM:236730
Trisomy 17P	Skeletal muscle atrophy, Hypoplasia of penis, Urethral valve, Micrognathia, Patent ductus arterio...	ORPHA:261290
Branchio-Oculo-Facial Syndrome	Preauricular pit, Multicystic kidney dysplasia, Renal agenesis, Deep philtrum, Non-midline cleft ...	ORPHA:1297
Classical-Like Ehlers-Danlos Syndrome Type 1	Skeletal muscle atrophy, Hyperextensible skin, Thin skin	ORPHA:230839
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Gout, Hy...	ORPHA:3467
Man1B1-Cdg	Thin upper lip vermilion, Cutis laxa, Multiple cafe-au-lait spots, Thick vermilion border, Short ...	ORPHA:397941
Axenfeld-Rieger Syndrome	Hypospadias, Redundant skin, Hypoplasia of the maxilla, Everted lower lip vermilion, Hypodontia, ...	ORPHA:782
Arterial Tortuosity Syndrome	Soft, doughy skin, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Cutis laxa...	OMIM:208050
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Micrognathia, Diastema, Patent ductus arteriosus, High palate, Short p...	OMIM:609757
Progeroid Syndrome, Petty Type	Mandibular prognathia, Redundant skin, Cutis laxa, Tooth agenesis, Everted lower lip vermilion, S...	ORPHA:2963
Aldh18A1-Related De Barsy Syndrome	Hyperextensible skin	ORPHA:35664
Cutis Laxa, Autosomal Recessive, Type Iiib	Flexion contracture, Elbow flexion contracture, Cutis laxa, Excessive wrinkled skin, Thin vermili...	OMIM:614438
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Glass Syndrome	Dental crowding, Facial hypotonia, Conical tooth, Micrognathia, Pierre-Robin sequence, Gingival o...	OMIM:612313
Cutis Laxa, Autosomal Recessive, Type Iie	Long philtrum, Thick lower lip vermilion, High palate, Cutis laxa	OMIM:619451
Scarf Syndrome	Diastasis recti, Cutis laxa, Perineal hypospadias, Webbed neck, Long philtrum, Micropenis, Enamel...	OMIM:312830
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Abnormal oral mucosa morphology, Eczema, Conical tooth, Hypoplasia o...	OMIM:305100
Adult Syndrome	Premature loss of permanent teeth, Eczema, Orofacial cleft, Oligodontia, Conjunctivitis, Hypodont...	OMIM:103285
Atrophoderma Vermiculata	Hypoplastic pilosebaceous units, Pruritus, Erythema, Periauricular skin pits, Atrophic scars, Ski...	ORPHA:79100
Cardiac-Valvular Ehlers-Danlos Syndrome	Dental crowding, Atrophic scars, Hyperextensible skin, High palate, Thin skin, Soft, doughy skin,...	ORPHA:230851
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Facial hypotonia, Narrow palate, Short upper lip, Short philtrum, Thick ve...	ORPHA:364028
Ehlers-Danlos Syndrome, Classic-Like	Soft skin, Unilateral renal agenesis, Proximal amyotrophy, Atrophic scars, Hyperextensible skin, ...	OMIM:606408
Mitochondrial Complex I Deficiency, Nuclear Type 30	Redundant skin	OMIM:301021
Cutis Laxa, Autosomal Dominant 3	Premature skin wrinkling, Cutis laxa, Unilateral renal agenesis, Dermal translucency	OMIM:616603
Tetrasomy 15Q26	Microretrognathia, Patent ductus arteriosus, Horseshoe kidney, High palate, Camptodactyly, Hydron...	OMIM:614846
C Syndrome	Accessory oral frenulum, Micrognathia, Patent ductus arteriosus, Renal cortical cysts, Cutis laxa...	OMIM:211750
Geroderma Osteodysplastica	Mandibular prognathia, Redundant skin, Hyperextensible skin, Thin skin, Malar flattening	ORPHA:2078
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Cleft palate, Cutis laxa, Renal duplication	OMIM:270420
Ablepharon Macrostomia Syndrome	Hypoplasia of penis, Redundant skin, Camptodactyly of finger, Hypoplasia of the maxilla, Wide mou...	ORPHA:920
Short Syndrome	Delayed eruption of teeth, Micrognathia, Dental malocclusion, Downturned corners of mouth, Hypodo...	OMIM:269880
Mandibuloacral Dysplasia	Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, Contractures of t...	ORPHA:2457
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hypospadias, Micrognathia, Abnormality of the dentition, Elbow flexion con...	OMIM:151050
Immunodeficiency 49	Natal tooth, Psoriasiform dermatitis, Micrognathia, Cutis laxa, Short philtrum	OMIM:617237
Pparg-Related Familial Partial Lipodystrophy	Calf muscle pseudohypertrophy, Aplasia/Hypoplasia of the skin, Abnormality of skeletal muscle fib...	ORPHA:79083
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Dental crowding, Recurrent pneumonia, Bladder diverticulum, Excessive wrinkled skin, Hyperextensi...	OMIM:225400
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Cutis Laxa, Autosomal Recessive, Type Iia	Redundant skin, Carious teeth, Cutis laxa, Excessive wrinkled skin, High palate, Narrow mouth, Ma...	OMIM:219200
Toluene Embryopathy	Micrognathia, Abnormal localization of kidney, Thin vermilion border, Hypoplasia of the zygomatic...	ORPHA:1920
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly...	ORPHA:157798
Macrocephaly/Autism Syndrome	Penile freckling, Cutis laxa, High palate, Long philtrum, Recurrent otitis media	OMIM:605309
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Dental malocclusion, Renal hypoplasia, Narrow ...	OMIM:618975
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Cholangitis, Accessory oral frenulum, Micrognathia, Stage 5 chronic kidney ...	OMIM:266920
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Eczema, Lymphadenitis, Inflammation of the large intestine, Thin skin, E...	OMIM:615895
Esophageal Ring, Lower	Dysphagia, Hiatus hernia	OMIM:133240
Fanconi Anemia, Complementation Group O	Hydronephrosis, Small thenar eminence, Stage 5 chronic kidney disease, Renal cyst	OMIM:613390
Kury-Isidor Syndrome	Sacral dimple, Tented upper lip vermilion, Widely spaced teeth, High palate, Long philtrum, Recur...	OMIM:619762
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Limb-girdle muscle weakness, Osteomyelitis leading to amputation due to ...	OMIM:112250
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Trisomy 13	Preauricular pit, Median cleft lip, Abnormality of the dentition, Preauricular skin tag, High, na...	ORPHA:3378
Even-Plus Syndrome	Recurrent urinary tract infections, Renal hypoplasia, Atopic dermatitis, High palate, Hypodontia,...	OMIM:616854
Frontometaphyseal Dysplasia 1	Delayed eruption of teeth, Skeletal muscle atrophy, Scapular winging, Hydroureter, Selective toot...	OMIM:305620
Self-Improving Dystrophic Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Skin erosion, Gastrointestinal inflammation, Atrophic scars...	ORPHA:79411
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Thin skin	OMIM:259410
Gastritis, Familial Giant Hypertrophic	Giant hypertrophic gastritis	OMIM:137280
Cutis Laxa, Autosomal Dominant 2	Premature skin wrinkling, Cutis laxa	OMIM:614434
Dermatosparaxis Ehlers-Danlos Syndrome	Micrognathia, Excessive wrinkled skin, Hyperextensible skin, Thin skin, Esophagitis, Retrognathia	ORPHA:1901
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Duplicated collecting system, Hydroureter, Renal agenesis, Absence of Stensen duct, Selective too...	OMIM:129900
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Renal neoplasm, Torticollis, Multiple joint contractures, Micrognathia, Carious teeth, Atrophic s...	ORPHA:536467
Acrofacial Dysostosis Syndrome Of Rodriguez	Micrognathia, High palate, Short philtrum, Thin skin, Narrow mouth	OMIM:201170
Reynolds Syndrome	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia	ORPHA:779
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia of the tongue, Facial palsy, Micrognathia, Pierre-Rob...	ORPHA:1358
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Redundant skin, Frontal open bite, Micrognathia, Gingival overgrowth, Gingival hyperkeratosis, Hy...	OMIM:225410
De Barsy Syndrome	Delayed eruption of teeth, Decreased muscle mass, Patent ductus arteriosus, Small, conical teeth,...	ORPHA:2962
Stiff Skin Syndrome	Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Nephrolithiasis, Lack of skin elasticity	ORPHA:2833
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Redundant neck skin, Renal hypoplasia, Renal cyst, Ureteral agenesis, Arthrogr...	OMIM:236500
Microphthalmia, Lenz Type	Delayed eruption of teeth, Hydroureter, Hypospadias, Abnormal dental morphology, Camptodactyly of...	ORPHA:568
Pseudoprogeria Syndrome	Thin skin	ORPHA:2985
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Redundant skin, Micrognathia, Morgagni diaphragmatic hernia,...	OMIM:613177
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Flexion contracture of finger, Redundant neck skin, Exaggerated cupid's bow, Diastasis recti, Fle...	ORPHA:254528
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydroureter, Hydronephrosis	OMIM:618240
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis, Abnormality of the musculature of the limbs	ORPHA:3327
Desmoid Tumor	Subcutaneous nodule, Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Patent ductus arteriosus, Increased size of the mandible, Hydronephrosis, Smooth philtrum	OMIM:300048
Netherton Syndrome	Skin rash, Eczema, Ectopic kidney, Aminoaciduria, Erythroderma, Dry skin, Hydronephrosis	ORPHA:634
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Cleft palate, Cutis laxa, Atrophic scars, Hyperextensible skin, Joint contracture, Soft skin, Lon...	OMIM:615349
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Skeletal muscle atrophy, Cleft soft palate, Patent ductus arteriosus, Cutis laxa, Bladder diverti...	OMIM:614557
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Micrognathia, Abnormality of the urete...	ORPHA:1834
Progressive Hemifacial Atrophy	Aplasia/Hypoplasia of the skin, Abnormal mandible morphology, Micrognathia	ORPHA:1214
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Flexion contracture of finger, Micrognathia, Hypoplasia of the maxilla...	OMIM:601812
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development	Hiatus hernia	OMIM:272000
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Congenital diaphragmatic hernia, Cutis laxa	OMIM:614100
Xeroderma Pigmentosum	Macule, Craniofacial hyperostosis, Hypermelanotic macule, Abnormality of the dentition, Keratitis...	ORPHA:910
Oculocerebral Hypopigmentation Syndrome, Cross Type	Ureteral stenosis, Abnormality of the urinary system, Thin skin, Narrow mouth, Microdontia, Abnor...	ORPHA:2719
Diabetic Embryopathy	Ureteral duplication, Micrognathia, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the abdominal...	ORPHA:1926
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Thin skin, Striae distensae	OMIM:610489
Cutis Laxa-Marfanoid Syndrome	Flexion contracture, Redundant skin, Congenital diaphragmatic hernia	ORPHA:171719
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Contracture of the proximal interphalangeal joint of the 2nd finger, Premature osteoarthritis, At...	OMIM:130060
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormality of the dentition, Flexion contracture, Lack of skin elasticity, High palate, Dermal a...	ORPHA:90153
Distal Triplication 15Q	Abnormality of the kidney, Micrognathia, Patent ductus arteriosus, Flexion contracture, Dilatatio...	ORPHA:314588
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, High palate, H...	ORPHA:3079
Rahman Syndrome	Redundant skin, Camptodactyly, Nevus	OMIM:617537
Periventricular Nodular Heterotopia	Patent ductus arteriosus, Thin skin	ORPHA:98892
Lamellar Ichthyosis	Renal insufficiency, Abnormality of the dentition, Pruritus, Lack of skin elasticity, Everted low...	ORPHA:313
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Decreased muscle mass, Redundant neck skin, Redundant skin, Carious teeth, Cutis laxa, Excessive ...	ORPHA:357074
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Eclabion, Dry skin, Scaling skin, Cutis laxa	ORPHA:2269
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi...	OMIM:162000
Prune Belly Syndrome	Hydroureter, Patent ductus arteriosus, Aplasia of the abdominal wall musculature, Congenital post...	OMIM:100100
X-Linked Dominant Chondrodysplasia Punctata	Scarring alopecia of scalp, Flexion contracture, Erythematous plaque, High palate, Scaling skin, ...	ORPHA:35173
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Unilateral renal agenesis, High, narrow palate, Renal hypoplasia, Cleft...	OMIM:618494
Exostoses With Anetodermia And Brachydactyly, Type E	Dermal atrophy	OMIM:133690
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Abnormal dental enamel morphology, Abnormality of the dentitio...	ORPHA:96169
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Camptodactyly of finger, Hypoplasia of penis, Hydronephrosis, Micrognathia	ORPHA:2083
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Aplasia/Hypoplasia of the skin, Micrognathia, Proximal upper limb muscle hypertrophy, Skeletal mu...	ORPHA:280365
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Hydronephrosis	OMIM:598500
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Micrognathia, High, narrow palate, Abnormality of dental eruption, Wid...	ORPHA:96092
Cutis Laxa, Autosomal Recessive, Type Ia	Bladder diverticulum, Redundant skin, Congenital diaphragmatic hernia, Cutis laxa	OMIM:219100
Intermediate Generalized Junctional Epidermolysis Bullosa	Oral mucosal blisters, Scarring alopecia of scalp, Atrophic scars, Aplasia cutis congenita, Ename...	ORPHA:79402
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hyperextensible skin	OMIM:615937
Ogden Syndrome	Microretrognathia, Everted upper lip vermilion, Torticollis, High, narrow palate, Cutis laxa, Cap...	ORPHA:276432
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Igg4-Related Submandibular Gland Disease	Xerostomia, Enlarged lacrimal glands, Abnormal pancreas morphology, Enlargement of parotid gland,...	ORPHA:449432
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Micrognathia, Flexion contracture, Cleft palate, Unilateral cleft lip, Webbed neck, ...	OMIM:616897
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Renal hypoplasia, Narrow mouth, Vesicoureteral reflux, Hydronephrosis	OMIM:613735
Stuve-Wiedemann Syndrome 1	Pursed lips, Micrognathia, Carious teeth, Elbow flexion contracture, Knee flexion contracture, Co...	OMIM:601559
Fibrinolytic Defect	Hyperextensible skin	OMIM:134900
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca...	ORPHA:251393
Mesomelia-Synostoses Syndrome	Micrognathia, Aplasia/Hypoplasia of the uvula, High, narrow palate, Abnormal oral frenulum morpho...	ORPHA:2496
Marshall-Smith Syndrome	Protruding tongue, Gingival overgrowth, Thin skin, Open mouth, Retrognathia	ORPHA:561
Congenital Disorder Of Glycosylation, Type Iq	Dry skin, Eczema, Cutis laxa	OMIM:612379
Takenouchi-Kosaki Syndrome	Thin upper lip vermilion, Hypospadias, Nevus, Unilateral renal agenesis, Patent ductus arteriosus...	OMIM:616737
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Protruding tongue, Everted lower lip vermilion, High palate, Thin skin, Op...	OMIM:617804
Dystrophic Epidermolysis Bullosa Pruriginosa	Pruritus, Subcutaneous nodule, Atrophic scars, Dermal atrophy, Skin plaque, Milia, Papule	ORPHA:89843
Cardiofaciocutaneous Syndrome	Redundant skin, Submucous cleft hard palate, Webbed neck, Excessive wrinkled skin, Hyperextensibl...	ORPHA:1340
Blepharonasofacial Malformation Syndrome	Redundant skin, Non-midline cleft lip, Cleft palate, Tooth agenesis, Long philtrum	ORPHA:1252
Geroderma Osteodysplasticum	Mandibular prognathia, Hypoplasia of the maxilla, Neonatal wrinkled skin of hands and feet, Cutis...	OMIM:231070
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Torticollis, Melanocytic nevus, Pyelonephritis, Keloids, Nephritis, Ren...	OMIM:314300
Pseudoxanthoma Elasticum	White oral mucosal macule, Yellow papule, Renovascular hypertension, Cutis laxa	OMIM:264800
Spondylodysplastic Ehlers-Danlos Syndrome	Soft, doughy skin, Abnormality of the temporomandibular joint, Numerous nevi, Multiple joint cont...	ORPHA:536471
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Pruritus, Dentinogenesis imperfecta, Retrognathia, Delayed eruption of permanent teeth, Periodont...	OMIM:619269
Recombinant 8 Syndrome	Redundant skin, Abnormality of the kidney, Micrognathia, Cleft upper lip, Abnormality of the dent...	ORPHA:96167
Rin2 Syndrome	Irregular dentition, Redundant skin, Gingival overgrowth, Abnormal lip morphology, Hyperextensibl...	ORPHA:217335
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Ectopic kidney, Gingival overgrowth, Horseshoe kidney, Narrow palate, ...	OMIM:235510
Helsmoortel-Van Der Aa Syndrome	Smooth philtrum, Thin upper lip vermilion, Recurrent urinary tract infections, Facial palsy, Cari...	OMIM:615873
Cardiac Valvular Dysplasia, X-Linked	Thick vermilion border, Cutis laxa	OMIM:314400
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, D...	ORPHA:49041
Meier-Gorlin Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Cleft palate, High palate, Thick ve...	OMIM:224690
22Q11.2 Duplication Syndrome	Micrognathia, Urethral stenosis, Cleft palate, Displacement of the urethral meatus, Hydronephrosi...	ORPHA:1727
Costello Syndrome	Abnormal dental enamel morphology, Redundant skin, Abnormality of the dentition, Thick lower lip ...	ORPHA:3071
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Redundant neck skin, Hypospadias, Hypodontia, Vesicoureteral reflux...	OMIM:301056
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Micrognathia, Knee flex...	ORPHA:85201
Eec Syndrome	Aplasia/Hypoplasia of the skin, Hypospadias, Abnormal dental enamel morphology, Renal hypoplasia/...	ORPHA:1896
Hyperkeratosis Lenticularis Perstans	Papule, Aplasia/Hypoplasia of the skin, Skin ulcer, Pruritus	ORPHA:409
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Yellow papule, Cutis laxa	OMIM:610842
Carpenter Syndrome 1	Preauricular pit, Sacral dimple, Hydroureter, Micrognathia, Hypoplasia of the maxilla, Persistenc...	OMIM:201000
Focal Facial Dermal Dysplasia Type I	Spotty hypopigmentation, Downturned corners of mouth, Skin dimple, Atrophic scars, Aplasia cutis ...	ORPHA:79133
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Renal insufficiency, Hypos...	ORPHA:261494
Developmental Delay, Language Impairment, And Ocular Abnormalities	Contracture of the proximal interphalangeal joint of the 5th finger, Hydronephrosis	OMIM:620141
Restrictive Dermopathy 1	Ureteral duplication, Natal tooth, Hypospadias, Limb joint contracture, Micrognathia, Patent duct...	OMIM:275210
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters	OMIM:619817
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Hypospadias, Recurrent pneumonia, Cleft palate, Furrowed tongue, High...	OMIM:616449
Ablepharon-Macrostomia Syndrome	Redundant skin, Micropenis, Short upper lip, Wide mouth, Hypoplasia of the zygomatic bone, Thin s...	OMIM:200110
Trisomy 1Q	Microretrognathia, Multicystic kidney dysplasia, Camptodactyly of finger, Congenital diaphragmati...	ORPHA:261344
Alg8-Cdg	Macroglossia, Premature skin wrinkling, Camptodactyly, Cutis laxa	ORPHA:79325
Ehlers-Danlos Syndrome, Classic-Like, 2	Redundant skin, Micrognathia, Osteoarthritis, Atypical scarring of skin, Atrophic scars, Hyperext...	OMIM:618000
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Preauricular pit, Thin upper lip vermilion, Patent ductus arteriosus, Deep philtrum, Webbed neck,...	OMIM:617506
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Micrognathia, Atypical scarring of skin, Bladder diverticulum, Myopathy,...	ORPHA:536545
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Skeletal muscle atrophy, Abnormal dental mo...	ORPHA:192
Thanatophoric Dysplasia	Patent ductus arteriosus, Redundant skin, Abnormality of the kidney	ORPHA:2655
Emanuel Syndrome	Redundant neck skin, Dental crowding, Multiple joint contractures, Congenital diaphragmatic herni...	ORPHA:96170
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Ritscher-Schinzel Syndrome 1	Hypospadias, Hydronephrosis, Cleft palate, Micrognathia	OMIM:220210
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Thin upper lip vermilion, Preauricular pit, Patent ductus arteriosus, Cleft pa...	ORPHA:457193
15Q Overgrowth Syndrome	Mandibular prognathia, Microretrognathia, Contracture of the proximal interphalangeal joint of th...	ORPHA:314585
Adult Syndrome	Abnormal dental morphology, Abnormality of the dentition, Skin ulcer, Melanocytic nevus, Thin ski...	ORPHA:978
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Micrognathia, Vesicoureteral reflux, Tooth ...	ORPHA:2484
Acth-Independent Macronodular Adrenal Hyperplasia	Skeletal muscle atrophy, Thin skin, Striae distensae	OMIM:219080
Noonan Syndrome 4	Ureteral duplication, Dental malocclusion, Wide mouth, Thick vermilion border, Webbed neck, Hydro...	OMIM:610733
Kosaki Overgrowth Syndrome	Thin upper lip vermilion, Hyperextensible skin, Thin skin, Xanthelasma	OMIM:616592
Ehlers-Danlos Syndrome, Hypermobility Type	Soft skin, Osteoarthritis, Hyperextensible skin, Striae distensae	OMIM:130020
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	High palate, Hydronephrosis, Cleft palate, Limb hypertonia	ORPHA:488613
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Abnormal oral mucosa morphology, Renal cyst, Gastrointestinal inflammation, A...	ORPHA:79404
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Redundant skin, Micrognathia, Hypoplasia of the...	OMIM:209885
Congenital Disorder Of Glycosylation, Type Iig	Thin upper lip vermilion, Renal insufficiency, Hypospadias, Micrognathia, Hemolytic-uremic syndro...	OMIM:611209
Thanatophoric Dysplasia Type 2	Patent ductus arteriosus, Redundant skin, Abnormality of the kidney	ORPHA:93274
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Abnormality of the dentition, Micrognathia, Dermal atrophy, Thin skin, Narrow mouth	ORPHA:90154
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pancreatitis, Striae distensae, Thin skin	OMIM:610475
Hypermobile Ehlers-Danlos Syndrome	Abnormality of the dentition, Abnormality of the gingiva, Cystocele, Osteoarthritis, Gingival ove...	ORPHA:285
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis	OMIM:152700
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Micrognathia, Ureteral agenesis, Abnormality of the urinary ...	ORPHA:2437
Orofaciodigital Syndrome Type 1	Micrognathia, Lobulated tongue, High palate, Chronic otitis media, Multicystic kidney dysplasia, ...	ORPHA:2750
Joubert Syndrome 37	Micropenis, High palate, Hydronephrosis	OMIM:619185
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Cutis Laxa, Autosomal Recessive, Type Iib	Decreased muscle mass, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, High pal...	OMIM:612940
Chromosome 2P16.1-P15 Deletion Syndrome	Thin upper lip vermilion, High, narrow palate, Joint contracture of the hand, High palate, Everte...	OMIM:612513
Endove Syndrome, Limb-Brain Type	Hydronephrosis, Neurogenic bladder, Osteomyelitis, Recurrent urinary tract infections	OMIM:619218
Marden-Walker Syndrome	Skeletal muscle atrophy, Micrognathia, Epispadias, Bifid uvula, Abnormal penis morphology, Multic...	ORPHA:2461
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Redundant neck skin, Micrognathia, Alveolar ridge overgrowth, Cleft pal...	OMIM:235255
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Atrophic scars, Hyperextensible skin, Myopathy	ORPHA:300179
Craniofaciofrontodigital Syndrome	Patent ductus arteriosus, Gingival overgrowth, Cutis laxa, Prominent median palatal raphe, Macrog...	ORPHA:363705
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Abnormality of the dentition, Oligod...	ORPHA:2315
Ogden Syndrome	Redundant neck skin, Redundant skin, Micrognathia, Deep philtrum, Short philtrum, High palate, Th...	OMIM:300855
46,Xy Sex Reversal 4	Micrognathia, Cleft palate, Hydronephrosis, High palate, Long philtrum, Recurrent otitis media, U...	OMIM:154230
Tooth Agenesis, Selective, 4	Abnormality of primary teeth, Agenesis of permanent teeth, Tooth agenesis, Thin skin, Peg-shaped ...	OMIM:150400
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Sacral dimple, Eczema, Cleft upper lip, Patent ductus arterio...	OMIM:610443
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Micrognathia, Diastema, Carious teeth, High palate, Thin skin, Narrow m...	OMIM:244450
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Congenital localized absence of skin, Atrophic scars, Enamel hypoplasia, Milia	OMIM:226700
Al-Gazali Syndrome	Recurrent pneumonia, Wrist flexion contracture, Hydronephrosis, Micrognathia	OMIM:609465
Cranioectodermal Dysplasia 2	Renal insufficiency, Left ventricular hypertrophy, Cholangitis, Micrognathia, Patent ductus arter...	OMIM:613610
Trisomy 20P	Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Micrognathia, Abnormality of the...	ORPHA:261318
Kindler Epidermolysis Bullosa	Urethral stricture, Aplasia/Hypoplasia of the skin, Recurrent skin infections, Abnormal dental en...	ORPHA:2908
Pseudoxanthoma Elasticum	Acne, Skin rash, Pruritus, Subcutaneous nodule, Lack of skin elasticity, Nephrocalcinosis, Excess...	ORPHA:758
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Cutis laxa, Nephrocalcinosis, ...	OMIM:617402
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Myopathy, Dermal atrophy, Skin...	ORPHA:257
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Microretrognathia, Congenital diaphragmatic hernia, Micrognathia, Narrow mouth, Elbow flexion con...	OMIM:245600
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology, Hydronephrosis	ORPHA:531151
Arterial Tortuosity Syndrome	Redundant skin, Abnormal zygomatic bone morphology, Myocarditis, Hyperextensible skin, Thin skin,...	ORPHA:3342
Anauxetic Dysplasia 3	Oligodontia, Retrognathia, Cutis laxa	OMIM:618853
Weaver Syndrome	Mandibular prognathia, Diastasis recti, Patent ductus arteriosus, Cutis laxa, Melanocytic nevus, ...	OMIM:277590
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Mandibular prognathia, Aplasia/Hypoplasia of the skin, Hypospadias, Re...	ORPHA:2658
Mosaic Trisomy 8	Camptodactyly of finger, Micrognathia, Hypopigmented skin patches, Cleft palate, High palate, Ves...	ORPHA:96061
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Redundant skin, Recurrent pneumonia, Lack of skin elasticity,...	ORPHA:90349
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Aplasia cutis congenita on trunk or limbs, Oral mucosal blisters, Urethrovesical occlusion, Atrop...	OMIM:226730
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Redundant neck skin, Lacticaciduria	OMIM:619003
Autosomal Dominant Cutis Laxa	Redundant neck skin, Redundant skin, Unilateral renal agenesis, Bronchiectasis, Pyelonephritis, C...	ORPHA:90348
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Hyperextensible skin, Esophagitis, Soft, doughy skin, Hydronephrosi...	ORPHA:541423
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Mandibular prognathia, Recurrent otitis media, Thin skin	ORPHA:449291
Raine Syndrome	Mandibular prognathia, Natal tooth, Hydroureter, Micrognathia, Protruding tongue, Gingival overgr...	OMIM:259775
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Ureteral hypoplasia, Congenital diaphragmatic hernia, Bladder trabeculation...	OMIM:614080
Lichen Planopilaris	Pruritus, Hepatitis, Hypopigmented skin patches, Skin ulcer, Dermal atrophy, Neoplasm of the oral...	ORPHA:525
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Barber-Say Syndrome	Delayed eruption of teeth, Aplasia/Hypoplasia of the skin, Redundant skin, Wide mouth, Hyperexten...	ORPHA:1231
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Neurogenic bladder, Micrognathia, Protruding tongue, Excessive wrinkled ...	OMIM:608779
Al Amyloidosis	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Xerostomia, Macroglossia,...	ORPHA:85443
Cushing Disease	Increased urinary cortisol level, Acne, Intra-oral hyperpigmentation, Skin ulcer, Recurrent cutan...	ORPHA:96253
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Redundant skin, Seborrheic dermatitis, Patent ductus arteriosus, Erythema, Arthritis, High palate...	OMIM:259100
Webb-Dattani Syndrome	Neurogenic bladder, Deep philtrum, Hyposthenuria, Vesicoureteral reflux, Retrognathia, Hydronephr...	OMIM:615926
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Increased muscle lip...	OMIM:608836
Superficial Epidermolytic Ichthyosis	Erythema, Thin skin	ORPHA:455
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Thin skin, Abnormality of the dentition	OMIM:607823
Wiedemann-Rautenstrauch Syndrome	Wide penis, Downturned corners of mouth, Short philtrum, Vesicoureteral reflux, Premature loss of...	ORPHA:3455
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Flexion contracture, Facial ...	OMIM:619503
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Sacral dimple, Tented upper lip vermilion, Patent ductus arteriosus after p...	OMIM:618460
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Hypospadias, Exaggerated cupid's bow, High, na...	ORPHA:464738
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Cap Polyposis	Hematochezia, Atrophic gastritis, Colorectal polyposis	ORPHA:160148
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Abnormal pituitary gland morphology, Euthyroid goiter, Dysphagia, Nodular go...	ORPHA:64744
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Hypospadias, Nevus, Unilateral renal agenes...	ORPHA:487796
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Congenital diaphr...	ORPHA:887
Teebi-Shaltout Syndrome	Ureteral stenosis, Prominent palatine ridges, High, narrow palate, Horseshoe kidney, Cleft palate...	OMIM:272950
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Redundant neck skin, Micrognathia, Abnormal renal morphology, Alveolar ...	ORPHA:1655
C Syndrome	Multicystic kidney dysplasia, Sacral dimple, Redundant skin, Accessory oral frenulum, Micrognathi...	ORPHA:1308
3C Syndrome	Hypoplasia of penis, Hypospadias, Micrognathia, High, narrow palate, Orofacial cleft, Cleft palat...	ORPHA:7
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Skin tags, Redundant skin, Urinary incontinence, Recurrent otitis media, Palmoplantar cutis laxa	OMIM:616482
Gabriele-De Vries Syndrome	Facial hypotonia, Micrognathia, Abnormality of the dentition, Thick lower lip vermilion, Pierre-R...	OMIM:617557
Classical-Like Ehlers-Danlos Syndrome Type 2	Sacral dimple, Long uvula, Widened atrophic scar, Redundant skin, Micrognathia, Piezogenic pedal ...	ORPHA:536532
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Pericarditis, Ski...	ORPHA:900
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Stage 5 chronic kidney disease, Cutis laxa, Aminoaciduria, Hyperextensib...	OMIM:222700
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica...	OMIM:204690
Microcephaly 26, Primary, Autosomal Dominant	Protruding tongue, Recurrent pneumonia, Gingival overgrowth, Long philtrum, Hydronephrosis	OMIM:619179
Fryns Syndrome	Multicystic kidney dysplasia, Tented upper lip vermilion, Hypospadias, Median cleft lip, Congenit...	ORPHA:2059
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Micrognathia, Dental malocclusion, Alveolar ridge overgrowth, Taurodontia...	ORPHA:444072
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Abno...	ORPHA:2322
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Patent ductus arteriosus, Limb joint contracture, Hydronephrosis, Limb hypertonia	OMIM:620327
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Long philtrum, Thin vermilion border, Hypoplasia of the zygomatic bone, Cutis laxa	OMIM:614800
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Esophageal ulceration, Gastric ulcer, Duodenal ulcer	OMIM:618372
Chime Syndrome	Abnormal dental morphology, Abnormality of the kidney, Abnormality of the dentition, Supernumerar...	ORPHA:3474
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Natal tooth, Hypospadias, Pneumonia, Micrognathia, Long penis, Flexion...	OMIM:264090
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Patent ductus arteri...	ORPHA:99776
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner...	ORPHA:1507
Cutis Laxa, Autosomal Recessive, Type Iid	Redundant skin, Micropenis, Cutis laxa, Camptodactyly, Joint contracture, Retrognathia	OMIM:617403
Thyrocerebroretinal Syndrome	Skeletal muscle atrophy, Nephritis	OMIM:274240
Cardiofaciocutaneous Syndrome 1	Numerous nevi, Abnormality of the dentition, Open bite, Micrognathia, Deep philtrum, Submucous cl...	OMIM:115150
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, U-Shaped upper lip vermilion, Renal agenesis, Hypospadias, Protruding tong...	OMIM:301040
Micro Syndrome	Hypoplasia of penis, Micrognathia, Abnormal localization of kidney, High palate, Short philtrum, ...	ORPHA:2510
Thanatophoric Dysplasia Type 1	Patent ductus arteriosus, Excessive wrinkled skin, Redundant skin, Abnormality of the kidney	ORPHA:1860
Chromosome 17Q12 Deletion Syndrome	Mandibular prognathia, Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic...	OMIM:614527
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Congenital localized absence of skin, Oral mucosal blisters	OMIM:132000
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Cleft palate, Hydronephr...	ORPHA:2237
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Sacral dimple, Hydronephrosis, Enlarged kidney	OMIM:314390
Cat Eye Syndrome	Preauricular pit, Renal agenesis, Micrognathia, Patent ductus arteriosus, Horseshoe kidney, Cleft...	OMIM:115470
Enamel-Renal Syndrome	Delayed eruption of teeth, Renal insufficiency, Abnormality of dental color, Abnormal dental enam...	ORPHA:1031
Peroxisome Biogenesis Disorder 1A (Zellweger)	Redundant neck skin, Hypospadias, Micrognathia, Protruding tongue, High, narrow palate, Patent du...	OMIM:214100
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Tented upper lip vermilion, Abnormality ...	ORPHA:847
Occipital Horn Syndrome	Redundant skin, Ureteral obstruction, Bladder diverticulum, Hyperextensible skin, High palate, Lo...	OMIM:304150
Vascular Ehlers-Danlos Syndrome	Redundant skin, High, narrow palate, Abnormality of the gingiva, Osteoarthritis, Subcutaneous nod...	ORPHA:286
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Skin tags, Micrognathia, Nephrolithiasis, Hypop...	ORPHA:2067
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Narrow mouth, Downturned corners of mouth, Webbed neck, Hydronep...	ORPHA:1780
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Atypical scarring o...	ORPHA:1366
Loeys-Dietz Syndrome	Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Orofacial cleft, Atypical scarri...	ORPHA:60030
Flynn-Aird Syndrome	Carious teeth, Dermal atrophy	OMIM:136300
Osteogenesis Imperfecta, Type Ii	Thin skin	OMIM:166210
Pelvis-Shoulder Dysplasia	Camptodactyly of finger, Micrognathia, Microglossia, Cleft palate, Thick anterior alveolar ridges...	ORPHA:2839
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Micrognathia, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, High palate, Renal a...	OMIM:617913
Aplasia Cutis Congenita	Aplasia cutis congenita over the scalp vertex, Congenital localized absence of skin, Facial palsy...	ORPHA:1114
Microphthalmia, Syndromic 9	Renal malrotation, Congenital diaphragmatic hernia, Micrognathia, Patent ductus arteriosus, Renal...	OMIM:601186
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Micrognathia, Patent ductus arte...	ORPHA:391641
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Hypertrophy of the urinary bladder, High palate, Recurrent aspiration...	ORPHA:280633
Williams-Beuren Syndrome	Flexion contracture, Nephrocalcinosis, Vesicoureteral reflux, Microdontia, Micropenis, Pelvic kid...	OMIM:194050
Congenital Disorder Of Glycosylation, Type It	Micrognathia, Pierre-Robin sequence, Rhabdomyolysis, Hepatitis, Cleft palate, Chronic hepatitis, ...	OMIM:614921
Huriez Syndrome	Aplasia/Hypoplasia of the skin, Dry skin, Lack of skin elasticity	ORPHA:384
Zellweger Syndrome	Multicystic kidney dysplasia, Hypospadias, Micrognathia, Abnormality of the tongue, High palate, ...	ORPHA:912
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Downturned corners of mouth, Bif...	ORPHA:247262
Alg12-Cdg	Thin upper lip vermilion, Hypospadias, Redundant skin, Micrognathia, Patent ductus arteriosus, Re...	ORPHA:79324
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Oral ulcer...	ORPHA:93552
15q26 overgrowth syndrome	Mandibular prognathia, Renal agenesis, Abnormality of the kidney, Camptodactyly of finger, Microg...	DECIPHER:81
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Renal dysplasia, Sacral dimple, Abnormality of the dentition, Patent ductus arteriosus, Cleft pal...	OMIM:300968
Aarskog-Scott Syndrome	Delayed eruption of teeth, Camptodactyly of finger, Cleft upper lip, Hypoplasia of the maxilla, A...	ORPHA:915
Atypical Werner Syndrome	Abnormality of the Achilles tendon, Renal neoplasm, Skeletal muscle atrophy, Aplasia/Hypoplasia o...	ORPHA:79474
Frontometaphyseal Dysplasia	Interphalangeal joint contracture of finger, Hypoplasia of the musculature, Ureteral obstruction,...	ORPHA:1826
Carpenter Syndrome 2	Carious teeth, High, narrow palate, Patent ductus arteriosus, Dental malocclusion, Narrow palate,...	OMIM:614976
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Facial palsy, Camptodactyly of finger, High palate, Everted lower l...	ORPHA:261349
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Ureteral duplication, Nevus flammeus, Redundant skin, Congenital diaphragm...	ORPHA:116
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Thin upper lip vermilion, Chronic gastritis, Scapular winging, Micrognathi...	OMIM:150230
Developmental Delay With Or Without Dysmorphic Facies And Autism	Thin upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Cleft lip, Patent ductus...	OMIM:618454
Otopalatodigital Syndrome Type 2	Hypospadias, Camptodactyly of finger, Ureteral obstruction, Micrognathia, Hypoplastic frontal sin...	ORPHA:90652
Au-Kline Syndrome	Sacral dimple, Chronic kidney disease, Dilatation of the renal pelvis, Dental malocclusion, Cleft...	OMIM:616580
Tarp Syndrome	Micrognathia, Horseshoe kidney, Cleft palate, Glossoptosis, High palate, Tongue nodules, Hydronep...	OMIM:311900
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Abnormality of the upper urinary tract, Micrognathia, Webbed neck, Wide mouth, Thin ...	ORPHA:2995
Plasminogen Deficiency, Type I	Gingival overgrowth, Nephrolithiasis, Gingivitis, Periodontitis, Conjunctivitis, Nephritis	OMIM:217090
Menkes Disease	Cutis laxa	OMIM:309400
Holoprosencephaly 3	Cleft lip, Cleft palate, Hydronephrosis, Solitary median maxillary central incisor, Malar flatten...	OMIM:142945
Stromme Syndrome	Micrognathia, Bilateral renal hypoplasia, Cleft palate, Wide mouth, Myopathy, Hydronephrosis	OMIM:243605
7Q11.23 Microduplication Syndrome	Thin upper lip vermilion, Sacral dimple, Hypospadias, Short lingual frenulum, Unilateral renal ag...	ORPHA:96121
Specific Granule Deficiency 2	Conical tooth, Recurrent pneumonia, Hyperextensible skin, Recurrent otitis media, Tooth malpositi...	OMIM:617475
Robinow Syndrome, Autosomal Recessive 1	Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Micrognathia, Bifid tongue...	OMIM:268310
Autosomal Recessive Spastic Paraplegia Type 20	Skeletal muscle atrophy, Dysuria, Upper limb muscle weakness, Distal amyotrophy, Increased overbi...	ORPHA:101000
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Duplicated collecting system, Delayed eruption of teeth, Cleft lip, Thick lower lip vermilion, Cl...	OMIM:280000
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Aplasia/Hypoplasia of the skin, Micrognathia, Blue nevus, Skin eros...	ORPHA:1556
Warburg-Cinotti Syndrome	Dental crowding, Ankle flexion contracture, Erythema, Elbow flexion contracture, Gingival overgro...	OMIM:618175
Osteogenesis Imperfecta	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Abnorm...	ORPHA:666
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta, Thin skin	OMIM:166200
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Epidermal nevus, Unilateral renal agenesis, Cleft upper lip, Micrognathia, Erythema, Flexion cont...	OMIM:308050
Combined Oxidative Phosphorylation Deficiency 5	Redundant neck skin, Retrognathia, Abnormal renal tubule morphology	OMIM:611719
Baller-Gerold Syndrome	Micrognathia, Abnormality of the ureter, Abnormal localization of kidney, Cleft palate, High pala...	ORPHA:1225
Wolfram Syndrome 1	Neurogenic bladder, Hydroureter, Hydronephrosis	OMIM:222300
Benign Schwannoma	Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology	ORPHA:252164
Alpha-1-Antitrypsin Deficiency	Gastric varix, Hepatocellular carcinoma	OMIM:613490
Simple Cryoglobulinemia	Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno...	ORPHA:91139
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Sinusitis, Rhabdomyosarcoma, Malar prominence, Micrognathia, ...	OMIM:251260
Opitz Gbbb Syndrome	Preauricular pit, Natal tooth, Hypospadias, Congenital diaphragmatic hernia, Micrognathia, Cleft ...	ORPHA:2745
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Thin upper lip vermilion, Recurrent skin infections, Diastasis recti, Cleft pa...	OMIM:601776
Intellectual Developmental Disorder, Autosomal Dominant 53	Wide mouth, Blue nevus, Micropenis, Hydronephrosis	OMIM:617798
Pallister-Hall Syndrome	Renal dysplasia, Natal tooth, Hydroureter, Distal urethral duplication, Ectopic kidney, Cleft upp...	OMIM:146510
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Oral leukoplakia, Thin skin, Dermal translucency	OMIM:612199
Acrofrontofacionasal Dysostosis 2	High palate, Sacral dimple, Redundant neck skin, Hypospadias	OMIM:239710
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Aplasia cutis congenita, Flexion contracture	OMIM:612138
Duane-Radial Ray Syndrome	Renal malrotation, Renal agenesis, Facial palsy, Renal hypoplasia, Horseshoe kidney, Small thenar...	OMIM:607323
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Micrognathia, Flexion contracture, Stage 5 chronic kidney disease, Hypoplasia of...	OMIM:608612
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Ehlers-Danlos Syndrome, Classic Type, 1	Subcutaneous spheroids, Osteoarthritis, Cigarette-paper scars, Irregularly spaced teeth, Hyperext...	OMIM:130000
Distal Deletion 12Q	Late onset atopic dermatitis, Median cleft lip, Ectopic kidney, Micrognathia, High, narrow palate...	ORPHA:96149
Acrofacial Dysostosis, Palagonia Type	Aplasia/Hypoplasia of the skin, Micrognathia, High, narrow palate, Supernumerary tooth, Oligodont...	ORPHA:1787
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Patent ductus arteriosus, Recurrent pneumonia, Flexion contracture, Nephrotic syndro...	OMIM:617303
Dermatoosteolysis, Kirghizian Type	Aplasia/Hypoplasia of the skin, Abnormality of the dentition, Keratitis, Osteoarthritis, Skin ulc...	ORPHA:1657
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Soft skin, Bladder diverticulum, Atrophic scars, Hyperextensible skin	OMIM:617821
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Preauricular pit, Cleft palate, Furrowed tongue, Downturned corners of mouth, Macroglossia, Oligo...	ORPHA:453499
Pfeiffer Syndrome Type 3	Cleft palate, Horseshoe kidney, High palate, Vesicoureteral reflux, Hydronephrosis	ORPHA:93260
Igg4-Related Aortitis	Increased inflammatory response, Hydronephrosis	ORPHA:449400
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Aplasia/Hypoplasia of the skin, Micrognathia, Flexion contracture, Lack of skin elasticity, Narro...	ORPHA:1979
Igg4-Related Dacryoadenitis And Sialadenitis	Xerostomia, Enlarged lacrimal glands, Enlargement of parotid gland, Nodular goiter, Abnormal sali...	ORPHA:79078
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Urinary bladder sphincter...	ORPHA:79408
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Abnormality of the kidney, Abnormality of the dentition, Thick lower lip vermilion, ...	ORPHA:261652
Lipodystrophy, Familial Partial, Type 7	Polyuria, Facial wrinkling, Recurrent pancreatitis, Thin skin, Narrow mouth, Dry skin, Lower limb...	OMIM:606721
Macular Degeneration, Age-Related, 3	Distal amyotrophy, Hyperextensible skin	OMIM:608895
Melioidosis	Abnormal parotid gland morphology, Parotitis	ORPHA:31202
X-Linked Creatine Transporter Deficiency	Malar flattening, Open mouth, Redundant skin	ORPHA:52503
Cousin Syndrome	Micrognathia, Alveolar ridge overgrowth, Cleft palate, Camptodactyly, Microglossia, Joint contrac...	OMIM:260660
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Patent ductus arterio...	ORPHA:2473
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Absence of Stensen du...	OMIM:604292
Dubowitz Syndrome	Delayed eruption of teeth, Sacral dimple, Hypospadias, Eczema, Micrognathia, Abnormality of the d...	ORPHA:235
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Pemphigus Erythematosus	Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Oral ulcer, E...	ORPHA:79480
Campomelic Dysplasia	Skin dimple, Hydronephrosis, Cleft palate, Micrognathia	ORPHA:140
Robinow Syndrome	Multicystic kidney dysplasia, Dental crowding, Micrognathia, Persistence of primary teeth, Tooth ...	ORPHA:97360
Myh9-Related Disease	Nephropathy, Renal insufficiency, Proteinuria, Nephritis	ORPHA:182050
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Patent ductus arteriosus, Ureteral triplication, High palate, Hydronephrosis	OMIM:104350
Osteopetrosis With Renal Tubular Acidosis	Micrognathia, Persistence of primary teeth, Abnormality of the dentition, Thick lower lip vermili...	ORPHA:2785
Monosomy 22Q13.3	Sacral dimple, Dental crowding, Recurrent skin infections, Dental malocclusion, Hydronephrosis, V...	ORPHA:48652
Adams-Oliver Syndrome 4	Aplasia cutis congenita, Patent ductus arteriosus	OMIM:615297
Noonan Syndrome 8	Eczema, Patent ductus arteriosus, Hyperextensible skin, Webbed neck, Palmoplantar cutis laxa, Lef...	OMIM:615355
Encephalocraniocutaneous Lipomatosis	Pelvic kidney, Hydronephrosis, Nevus psiloliparus	OMIM:613001
Flynn-Aird Syndrome	Carious teeth, Skeletal muscle atrophy, Dermal atrophy, Skin ulcer	ORPHA:2047
3Mc Syndrome 1	Sacral dimple, Dental crowding, Diastasis recti, Cleft upper lip, Cleft lip, Patent ductus arteri...	OMIM:257920
Williams Syndrome	Hypoplasia of penis, Redundant skin, Micrognathia, Abnormal tubulointerstitial morphology, Nephro...	ORPHA:904
Cutis Laxa, Autosomal Dominant 1	Redundant skin, Bronchiectasis, Cutis laxa, Hyperextensible skin, Long philtrum	OMIM:123700
Trisomy 18	Microretrognathia, Camptodactyly of finger, Abnormality of the upper urinary tract, Congenital di...	ORPHA:3380
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Acne, Dental malocclusion, Cleft palate, Narrow...	OMIM:101200
Ledderhose Disease	Subcutaneous nodule, Lack of skin elasticity	ORPHA:199251
Nail-Patella Syndrome	Renal insufficiency, Decreased muscle mass, Proteinuria, Abnormality of the kidney, Contracture o...	ORPHA:2614
Chondrodysplasia Punctata 2, X-Linked Dominant	Malar flattening, Hydronephrosis, Erythroderma	OMIM:302960
Alg9-Cdg	Microretrognathia, Hypoplasia of the bladder, Smooth philtrum, Thin upper lip vermilion, Torticol...	ORPHA:79328
Dyskeratosis Congenita	Macule, Aplasia/Hypoplasia of the skin, Hypermelanotic macule, Abnormality of the dentition, Hypo...	ORPHA:1775
Chromosome 18P Deletion Syndrome	Redundant neck skin, Micrognathia, Tooth malposition, High palate, Micropenis, Hypomimic face	OMIM:146390
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Aplasia/Hypoplasia of the skin, Nevus, Camptodactyl...	ORPHA:2990
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis	OMIM:619362
Fontaine Progeroid Syndrome	Mandibular prognathia, Thin upper lip vermilion, Left ventricular hypertrophy, Redundant skin, Pr...	OMIM:612289
Trisomy 8P	Sacral dimple, Multiple joint contractures, Fetal pyelectasis, Cleft palate, Nephrocalcinosis, Bi...	ORPHA:264450
Spondylo-Ocular Syndrome	Preauricular pit, Facial hypotonia, Thin vermilion border, Hyperextensible skin, Webbed neck, Lon...	ORPHA:85194
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Inflammation of the large intestine, Gastritis	OMIM:618108
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Preauricular pit, Exaggerated median tongue furrow, Exaggerated cupid's bow, Open bite, High, nar...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Preauricular pit, Exaggerated median tongue furrow, Exaggerated cupid's bow, Open bite, High, nar...	ORPHA:352665
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Dental crowding, Micrognathia, Lack of skin elasticity, Dermal atrophy, Narrow mouth, Joint contr...	OMIM:615381
Treacher Collins Syndrome 1	Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N...	OMIM:154500
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal a...	ORPHA:90324
Fountain Syndrome	Craniofacial hyperostosis, Erythema, Thick lower lip vermilion, Gingival overgrowth, Subcutaneous...	ORPHA:3219
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Perianal abscess, Patent ductus arteriosus, Urachus fistula, ...	OMIM:612541
Beare-Stevenson Cutis Gyrata Syndrome	Skin tags, Natal tooth, Preauricular pit, Redundant neck skin, Hypospadias, Gingival overgrowth, ...	OMIM:123790
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E...	ORPHA:2363
Craniofacioskeletal Syndrome	Thin upper lip vermilion, Hypospadias, Micrognathia, Patent ductus arteriosus, Hypoplastic fronta...	OMIM:300712
1Q21.1 Microdeletion Syndrome	Patent ductus arteriosus, High palate, Long philtrum, Vesicoureteral reflux, Ankyloglossia, Hydro...	ORPHA:250989
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Megacystis, Hydronephrosis	OMIM:619431
Linear Skin Defects With Multiple Congenital Anomalies 2	Aplasia cutis congenita, Asymmetric, linear skin defects, Congenital diaphragmatic hernia, Long p...	OMIM:300887
Syndromic Recessive X-Linked Ichthyosis	Cryptorchidism, Testicular seminoma, Abnormal stomach morphology	ORPHA:281090
Xfe Progeroid Syndrome	Renal insufficiency, Proteinuria, Dermal atrophy, Premature loss of teeth, Dry skin, Enamel hypop...	OMIM:610965
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Micrognathia, Advanced eruption of teeth, M...	ORPHA:818
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Recurrent urinary tract infections, Hypospadias, Dental crowding, Pneumonia, Carious...	ORPHA:353281
Intrinsic Factor Deficiency	Absence of intrinsic factor	OMIM:261000
Tetrasomy 9P	Myositis, Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short philtrum...	ORPHA:3310
Kindler Syndrome	Phimosis, Carious teeth, Urethral stenosis, Spotty hypopigmentation, Gingivitis, Periodontitis, D...	OMIM:173650
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Abnormal salivary gland morphology, Enlarged polycystic ovaries, Polycystic ova...	ORPHA:2298
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Discoid lupus rash, Cheilitis, Annular cutaneous lesion, Dermal atrophy, Mal...	ORPHA:163525
Multiple Benign Circumferential Skin Creases On Limbs	Hypospadias, Micrognathia, Cleft palate, Increased number of skin folds, Long philtrum	ORPHA:2505
White-Kernohan Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Hydroureter, Horseshoe kidney, Wide mouth, ...	OMIM:619426
Combined Oxidative Phosphorylation Deficiency 2	Patent ductus arteriosus, Redundant neck skin	OMIM:610498
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Thin upper lip vermilion, Hydroureter, Vesicoureteral reflux, Crossed ...	OMIM:300707
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ...	OMIM:301050
Xp22.3 Microdeletion Syndrome	Sacral dimple, Aplasia/Hypoplasia of the skin	ORPHA:1643
Tarp Syndrome	Micrognathia, Pierre-Robin sequence, Alveolar ridge overgrowth, Horseshoe kidney, Cleft palate, G...	ORPHA:2886
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Acne, Intra-oral hyperpigmentation, Skin ulcer, Recurrent cutan...	ORPHA:99889
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, H...	ORPHA:373
Gabriele-De Vries Syndrome	Distal lower limb amyotrophy, Abnormality of upper lip vermillion, Facial hypotonia, Micrognathia...	ORPHA:506358
Erdheim-Chester Disease	Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Xanthelasma, Hydronephrosis	ORPHA:35687
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Redundant neck skin, Interphalangeal joint con...	ORPHA:96334
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Congenital diaphragmatic hernia, Micrognathia, Cutis laxa, High pal...	OMIM:614437
Hardikar Syndrome	Preauricular pit, Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infecti...	OMIM:301068
Noonan Syndrome With Multiple Lentigines	Scapular winging, Hypospadias, Subcutaneous nodule, Aplasia/Hypoplasia of the abdominal wall musc...	ORPHA:500
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Redundant neck skin, Hypospadias, Glandular hypospadias, Narrow palate, High palate, Narrow mouth...	OMIM:604314
Wrinkly Skin Syndrome	Delayed eruption of teeth, Decreased muscle mass, Carious teeth, Excessive skin wrinkling on dors...	ORPHA:2834
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Ureteral stenosis, Micrognathia, Cleft palat...	OMIM:309350
Viss Syndrome	Microretrognathia, Chronic gastritis, Cleft soft palate, Eczema, Micrognathia, High, narrow palat...	OMIM:619472
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thin upper lip vermilion, Redundant neck skin, Short lingual frenulum, Downturned corners of mout...	OMIM:617360
Fryns Syndrome	Microretrognathia, Ureteral duplication, Tented upper lip vermilion, Renal agenesis, Hypospadias,...	OMIM:229850
Arboleda-Tham Syndrome	Microretrognathia, Mandibular prognathia, Recurrent urinary tract infections, Thin upper lip verm...	OMIM:616268
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Superficial dermal perivascular inflammatory infiltrate, Eczema, Micrognathia, Seborrheic dermati...	ORPHA:83617
Desmosterolosis	Aplasia/Hypoplasia of the skin, Renal agenesis, Micrognathia, Renal hypoplasia/aplasia, Patent du...	ORPHA:35107
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Hypospadias, Eczema, Unilateral renal agenesis, Patent ductus arteri...	ORPHA:464306
Alstrom Syndrome	Renal insufficiency, Chronic active hepatitis, Abnormality of the dentition, Recurrent pneumonia,...	OMIM:203800
8Q22.1 Microdeletion Syndrome	Camptodactyly of finger, Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft...	ORPHA:178303
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Flexion contracture of finger, Hypospadias, Unilateral renal agenesis, Ankle flexion contracture,...	ORPHA:464311
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Ureteral duplication, Recurrent urinary tract infections, Abnormality ...	ORPHA:2036
Neonatal Marfan Syndrome	High, narrow palate, Flexion contracture, Micrognathia, Cutis laxa	ORPHA:284979
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	High palate, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis, Smooth philtrum	OMIM:618653
Okamoto Syndrome	Exaggerated median tongue furrow, Redundant neck skin, Tented upper lip vermilion, Urinary incont...	ORPHA:2729
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abn...	ORPHA:2273
Xeroderma Pigmentosum Variant	Keratitis, Dry skin, Dermal atrophy	ORPHA:90342
B4Galt1-Cdg	Thin upper lip vermilion, Inflammatory abnormality of the skin, Redundant neck skin, Long philtrum	ORPHA:79332
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Hydronephrosis	OMIM:617093
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Hyperexte...	OMIM:619950
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the urinary system physiology, Ne...	ORPHA:2552
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Hypospadias, Micrognathia, Abnormality of the gingiva, Recurrent pneum...	ORPHA:798
Smith-Lemli-Opitz Syndrome	Dental crowding, Micrognathia, Renal cyst, Micropenis, Bifid uvula, Penoscrotal hypospadias, Micr...	OMIM:270400
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Persistence of primary teeth, Hypoplasia of the maxilla, Carious tee...	ORPHA:2044
Diastrophic Dysplasia	Hyperextensible skin, Camptodactyly of finger, Cleft palate, Micrognathia	ORPHA:628
Poikiloderma With Neutropenia	Skin rash, Micrognathia, Carious teeth, Recurrent pneumonia, Conjunctivitis, Dermal atrophy, Recu...	OMIM:604173
Visceral Myopathy 1	Megacystis, Hydronephrosis, Urinary retention, Vesicoureteral reflux, Pancreatitis	OMIM:155310
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephrotic syndrome, Malar rash, Nephritis, Petechiae	OMIM:603909
Aplasia Cutis-Myopia Syndrome	Aplasia cutis congenita, Skin ulcer	ORPHA:1117
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Aplasia/Hypoplasia of the skin, Abnormal de...	ORPHA:1782
Ataxia-Telangiectasia	Multiple cafe-au-lait spots, Skeletal muscle atrophy, Aplasia/Hypoplasia of the skin	ORPHA:100
Coffin-Lowry Syndrome	Mandibular prognathia, Thick lower lip vermilion, Dental malocclusion, Narrow palate, Cutis laxa,...	OMIM:303600
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Calcinosis, Aplasia/Hypoplasia of the skin, Skin rash, Abnormal dental...	ORPHA:2909
Heme Oxygenase 1 Deficiency	Hematuria, Nephritis, Proteinuria	OMIM:614034
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Redundant neck skin, Hypospadias, Micrognathia, Patent ductus arteriosus, Pierre-Robin sequence, ...	OMIM:217980
Neurooculocardiogenitourinary Syndrome	Downturned corners of mouth, Patent ductus arteriosus, Redundant neck skin, Smooth philtrum	OMIM:618652
Penile Agenesis	Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o...	ORPHA:49
Oculocerebrocutaneous Syndrome	Skin tags, Aplasia/Hypoplasia of the skin, Congenital diaphragmatic hernia, Hypopigmented skin pa...	ORPHA:1647
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Recurrent urinary tract infections, Numerous nevi, Hypospadias, Abnormal den...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Recurrent urinary tract infections, Numerous nevi, Hypospadias, Abnormal den...	ORPHA:363958
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Short lingual frenul...	ORPHA:79500
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Macule, Sinusitis, Micrognathia, Renal hypoplasia/aplasia, Abnormal renal morphology, Abnormality...	ORPHA:363700
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Recurrent skin infections, Nevus, Carious teeth, Skin erosion, Flexion c...	ORPHA:89842
Floating-Harbor Syndrome	Thin upper lip vermilion, Hypospadias, Carious teeth, Glandular hypospadias, Atopic dermatitis, N...	OMIM:136140
Coffin-Siris Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Sacral dimple, Hydroureter, Hypospadias, Con...	OMIM:135900
Loeys-Dietz Syndrome 4	Torticollis, Eosinophilic infiltration of the esophagus, High, narrow palate, Hyperextensible ski...	OMIM:614816
Rubinstein-Taybi Syndrome 1	Thin upper lip vermilion, Hypospadias, Dental crowding, Micrognathia, Hypoplasia of the maxilla, ...	OMIM:180849
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Scapular winging, Redundant skin, Hypoplasia of the...	OMIM:278250
Werner Syndrome	Renal neoplasm, Skeletal muscle atrophy, Aplasia/Hypoplasia of the skin, Lack of skin elasticity,...	ORPHA:902
Keutel Syndrome	Soft, doughy skin, Recurrent otitis media, Dermal atrophy, Recurrent sinusitis	ORPHA:85202
Intellectual Developmental Disorder, Autosomal Dominant 42	Neurogenic bladder, Cleft palate, High palate, Short philtrum, Ureteropelvic junction obstruction...	OMIM:616973
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Recurrent urinary tract infections, Redundant neck skin, Dental crowding, Eczema, Sacral dimple, ...	OMIM:617157
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Thin upper lip vermilion, Hypospadias, Patent ductus arteriosus, Cleft palate, Short philtrum, Mi...	ORPHA:163979
Campomelic Dysplasia	Irregular dentition, Hypospadias, Micrognathia, Carious teeth, Pretibial dimple, Contracture of t...	OMIM:114290
Mend Syndrome	Microretrognathia, Sacral dimple, Redundant neck skin, Micrognathia, Spotty hypopigmentation, Hig...	OMIM:300960
Focal Dermal Hypoplasia	Delayed eruption of teeth, Ureteral duplication, Diastasis recti, Focal dermal aplasia/hypoplasia...	OMIM:305600
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Enlarged lacrimal glands, Abnormal salivary gland morphology	OMIM:181000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Microretrognathia, Thin upper lip vermilion, Renal agenesis, Hypospadias, ...	ORPHA:508498
Jacobsen Syndrome	Smooth philtrum, Multicystic kidney dysplasia, Eczema, Webbed neck, Long philtrum, Hydronephrosis...	ORPHA:2308
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Otitis media, Vesicoureteral reflux, Hypospadias, Abn...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Otitis media, Vesicoureteral reflux, Hypospadias, Abn...	ORPHA:353277
Igg4-Related Ophthalmic Disease	Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Colon cancer, Sialaden...	ORPHA:449563
Peters Plus Syndrome	Preauricular pit, Ureteral duplication, Multicystic kidney dysplasia, Thin upper lip vermilion, H...	ORPHA:709
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Widened atrophic scar, High, narrow palate, Recurrent pneumonia, Elbow fle...	ORPHA:1900
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional...	ORPHA:573278
Peters-Plus Syndrome	Ureteral duplication, Short lingual frenulum, Micrognathia, Hypoplasia of the maxilla, Conical in...	OMIM:261540
Mesomelia-Synostoses Syndrome	Microretrognathia, Hydronephrosis, Absent uvula, Micrognathia	OMIM:600383
Charge Syndrome	Delayed eruption of teeth, Facial palsy, Cleft upper lip, Abnormal soft palate morphology, Patent...	ORPHA:138
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Renal cyst, Postauricular pit, Preauricul...	OMIM:312870
Congenital Alveolar Capillary Dysplasia	Patent ductus arteriosus, Hydronephrosis	ORPHA:210122
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Renal insufficiency, Redundant neck skin, Hypospadias, Micrognathia, Renal cortical cysts, Hypere...	ORPHA:397715
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Aplasia/Hypoplasia of the skin, Hypospadias, Epispadias, Abnormality o...	ORPHA:3339
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Distal lower limb amyotrophy, Aplasia cutis congenita on trunk or limbs, Recurrent skin infection...	ORPHA:79396
Nodular Non-Suppurative Panniculitis	Aplasia/Hypoplasia of the skin, Erythema, Subcutaneous nodule, Panniculitis, Inflammatory abnorma...	ORPHA:33577
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Abnormality of the dentition, Hypoplasia of the maxilla, Pat...	OMIM:617140
Wolfram Syndrome 2	Gastric ulcer	OMIM:604928
Hand-Foot-Genital Syndrome	Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Small thenar eminence, Chordee, Ves...	OMIM:140000
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Oligodontia, Hypodontia, Hypoplastic pilosebaceous units	OMIM:601345
Bronchogenic Cyst	Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology	ORPHA:2357
Lysinuric Protein Intolerance	Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial nephritis, Renal f...	ORPHA:470
Fibromuscular Dysplasia, Multifocal	Soft skin, Dental crowding, Micrognathia, Atrophic scars, Hyperextensible skin, High palate, Soft...	OMIM:619329
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Carious teeth, Patent duct...	OMIM:619522
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Diastasis recti, Micrognathia, Cleft lip, Patent ductus arteriosus, Dil...	OMIM:265380
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Macroglossia, Malar flattening, Micropenis, Hydronep...	OMIM:269150
Acral Self-Healing Collodion Baby	Palmoplantar scaling skin, Erythema, Lack of skin elasticity	ORPHA:281127
Congenital Tracheomalacia	Pneumonia, Patent ductus arteriosus, Bronchiectasis, Cutis laxa	ORPHA:95430
Digeorge Syndrome	Renal insufficiency, Acne, Unilateral renal agenesis, Micrognathia, Seborrheic dermatitis, High, ...	OMIM:188400
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Patent ductus arteriosus, Micropenis, Redundant neck skin	ORPHA:2519
Restrictive Dermopathy	Ureteral duplication, Natal tooth, Multiple joint contractures, Hypospadias, Camptodactyly of fin...	ORPHA:1662
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Micrognathia, Sub...	ORPHA:2636
Arteriosclerosis, Severe Juvenile	Gastric ulcer	OMIM:208060
Tetrasomy 5P	Preauricular pit, Redundant neck skin, Micrognathia, Aplasia/Hypoplasia of the abdominal wall mus...	ORPHA:3309
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonep...	OMIM:181270
Noonan Syndrome 2	Micrognathia, Patent ductus arteriosus, Hyperextensible skin, High palate, Nevus, Palmoplantar cu...	OMIM:605275
Mckusick-Kaufman Syndrome	Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia	OMIM:236700
Immunodeficiency 47	Cutis laxa	OMIM:300972
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic...	OMIM:258040
Kabuki Syndrome 1	Preauricular pit, Crossed fused renal ectopia, Micrognathia, Abnormality of the dentition, Cleft ...	OMIM:147920
Listeriosis	Unusual skin infection, Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis...	ORPHA:533
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Few cafe-au-lait spots, Eczema, Recurrent pneumo...	OMIM:620330
Zygomycosis	Unusual skin infection, Renal insufficiency, Sinusitis, Fasciitis, Pericarditis, Gastritis, Pustu...	ORPHA:73263
Menkes Disease	Osteomyelitis, Micrognathia, Aplasia/Hypoplasia of the abdominal wall musculature, Atypical scarr...	ORPHA:565
Hallermann-Streiff Syndrome	Natal tooth, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernumerary tooth, Re...	OMIM:234100
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Sacral dimple, Aplasia/Hypoplasia of the skin, Hypospadias, Abnormal d...	ORPHA:2556
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Hydronephrosis, Long philtrum	OMIM:610682
Cardiofaciocutaneous Syndrome 4	Cafe-au-lait spot, Hyperextensible skin, Multiple lentigines	OMIM:615280
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Hydronephrosis	OMIM:271520
Neu-Laxova Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Abnormality of th...	ORPHA:2671
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Oligodontia, Absent...	OMIM:224300
Classical Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Subcutaneous spheroids, Piezogenic pedal papules, Ost...	ORPHA:287
Autosomal Recessive Cutis Laxa Type 2A	Excessive wrinkled skin, Hyperextensible skin, Long philtrum	ORPHA:357058
1P36 Deletion Syndrome	Macule, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Pat...	ORPHA:1606
Bone Dysplasia, Lethal Holmgren Type	Patent ductus arteriosus, Redundant neck skin	ORPHA:1842
Frank-Ter Haar Syndrome	Thin upper lip vermilion, Redundant neck skin, Acne, Micrognathia, Dental malocclusion, Gingival ...	OMIM:249420
Neurofibroma	Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding	ORPHA:252183
Antisynthetase Syndrome	Myositis, Skin rash, Pruritus, Myocarditis, Lack of skin elasticity, Keratoconjunctivitis sicca	ORPHA:81
Spinocerebellar Ataxia-Dysmorphism Syndrome	Downturned corners of mouth, Hyperextensible skin, Thick vermilion border	ORPHA:1185
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Gastritis	ORPHA:2575
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Carious teeth, Xerostomia, Conical in...	OMIM:149730
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Micrognathia, Patent ductus arteriosus, Thick lower lip vermilion, Narrow palate, Hyperextensible...	ORPHA:555877
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Hip contracture, Hypospadias, Abnormality of the kidne...	ORPHA:821
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Interstitial pneumonitis, Dermal atrophy, Scali...	ORPHA:454831
Liver Disease, Severe Congenital	Chronic gastritis, Recurrent urinary tract infections, Hypospadias, Eczema, Pneumonia, Micrognath...	OMIM:619991
Cockayne Syndrome B	Mandibular prognathia, Renal insufficiency, Proteinuria, Delayed eruption of primary teeth, Cario...	OMIM:133540
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Dental crowding, Micrognathia, Flexion contracture, Elbow flexion contracture, Hypopl...	OMIM:248370
Blau Syndrome	Abnormal salivary gland morphology, Xerostomia	ORPHA:90340
Vater/Vacterl Association	Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent ductus arteriosus, Patent ur...	OMIM:192350
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Renal dysplasia, Thin upper lip vermilion, Sacral dimple, Abnormality of the dentition, Patent du...	ORPHA:480880
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus...	ORPHA:90291
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Duplicated collecting system, Eczema, Hyperextensible skin, High palate, Multiple lentigines, Web...	OMIM:607721
Noonan Syndrome 10	Left ventricular hypertrophy, Patent ductus arteriosus, Hyperextensible skin, High palate, Webbed...	OMIM:616564
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Skin erosion, Aplasia cutis congenita	OMIM:609638
Igg4-Related Pachymeningitis	Sinusitis, Lower limb muscle weakness, Lymphadenitis, Nephritis, Pancreatitis, Parotitis	ORPHA:449427
Lyme Disease	Skin nodule, Uveitis, Arthritis, Dermal atrophy, Infectious encephalitis	ORPHA:91546
Shprintzen-Goldberg Craniosynostosis Syndrome	Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Narrow palate, Hyperextensible skin...	OMIM:182212
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Micrognathia, Knee flex...	OMIM:606170
Hydrocephalus, Congenital, 3, With Brain Anomalies	Redundant neck skin	OMIM:617967
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric ulcer, Gastric hypertrophy	OMIM:161700
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Patent ductus arteriosus, Deep philtrum, Nephrolithiasis, Aspiration pneumonia, Vesicoureteral re...	ORPHA:438213
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Micrognathia, Cleft upper lip, Renal hypoplasia, Ren...	ORPHA:93271
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Muscular dystrophy	OMIM:615287
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Flexion contract...	ORPHA:2152
Ileal Neuroendocrine Tumor	Hydronephrosis	ORPHA:100078
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis	OMIM:208500
Hydrolethalus Syndrome 1	Median cleft lip, Hypospadias, Micrognathia, Cleft palate, Agenesis of the diaphragm, Hydronephrosis	OMIM:236680
Knobloch Syndrome 1	Duplicated collecting system, Patent ductus arteriosus, Bifid ureter, Hydronephrosis, Renal dupli...	OMIM:267750
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Patent ductus arteriosus, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Rena...	OMIM:619351
Brittle Cornea Syndrome	Abnormality of the dentition, Cleft palate, Hyperextensible skin, Camptodactyly, Soft skin	ORPHA:90354
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Flexion contract...	ORPHA:261537
Oculoectodermal Syndrome	Giant cell granuloma of mandible, Epidermal nevus, Preauricular skin tag, Patent ductus arteriosu...	OMIM:600268
Rothmund-Thomson Syndrome Type 2	Delayed eruption of teeth, Calcinosis, Abnormal dental enamel morphology, Abnormality of the dent...	ORPHA:221016
Leprechaunism	Skeletal muscle atrophy, Long penis, Hypercalciuria, Nephrocalcinosis, Hyperextensible skin, Thic...	ORPHA:508
Pelviscapular Dysplasia	Redundant neck skin, Elbow flexion contracture	ORPHA:93333
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,...	ORPHA:411629
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Perianal abscess, Oral ulcer, Inflammation of the large intestine, Colitis, An...	OMIM:301074
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Hyperextensible skin, Dermal translucency	OMIM:619120
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Flexion contract...	ORPHA:261552
Dermatomyositis	Pericarditis, Aplasia/Hypoplasia of the skin, Pruritus, Myocarditis, Erythema, Skin ulcer, Arthri...	ORPHA:221
Wolfram Syndrome	Gastrointestinal hemorrhage, Gastric ulcer, Malabsorption	ORPHA:3463
Dyskeratosis Congenita, X-Linked	Hypospadias, Phimosis, Carious teeth, Urethral stenosis, Horseshoe kidney, Conjunctivitis, Dermal...	OMIM:305000
Costello Syndrome	Renal insufficiency, Redundant neck skin, Rhabdomyosarcoma, Micrognathia, Achilles tendon contrac...	OMIM:218040
Hoyeraal-Hreidarsson Syndrome	Excessive wrinkled skin, Dermal atrophy, Oral leukoplakia	ORPHA:3322
Hallermann-Streiff Syndrome	Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth...	ORPHA:2108
Charge Syndrome	Renal agenesis, Facial palsy, Cleft upper lip, Micrognathia, Patent ductus arteriosus, Renal hypo...	OMIM:214800
Dyskeratosis Congenita, Autosomal Dominant 1	Carious teeth, Hepatic necrosis, Interstitial pneumonitis, Dermal atrophy, Premature loss of teet...	OMIM:127550
Microgastria-Limb Reduction Defect Syndrome	Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist...	ORPHA:2538
Branchiooculofacial Syndrome	Preauricular pit, Renal agenesis, Hypospadias, Facial palsy, Cleft upper lip, Micrognathia, Abnor...	OMIM:113620
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Calcinosis, Abnormal dental enamel morphology, Abnormality of the dent...	ORPHA:221008
Shprintzen-Goldberg Syndrome	Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Aplasia/Hy...	ORPHA:2462
Occipital Horn Syndrome	Recurrent urinary tract infections, High, narrow palate, Hepatitis, Atypical scarring of skin, Bl...	ORPHA:198
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Hyperextensible skin, Dermal translucency	OMIM:619115
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Gastritis	ORPHA:809
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Patent ductus arteriosus, Elbow flexion contracture, Lack of skin elas...	OMIM:608328
Otopalatodigital Syndrome, Type Ii	Hypospadias, Elbow contracture, Micrognathia, Cleft palate, Narrow mouth, Malar flattening, Hydro...	OMIM:304120
Yunis-Varon Syndrome	Redundant neck skin, Hypospadias, Premature loss of primary teeth, Micrognathia, Abnormality of d...	ORPHA:3472
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Congenital diaphragmatic hernia, Asymmetric, linear skin defects, Cleft palate, Chor...	OMIM:309801
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Hypoplasia o...	OMIM:268400
Johanson-Blizzard Syndrome	Hypospadias, Urethrovaginal fistula, Agenesis of permanent teeth, Downturned corners of mouth, Lo...	OMIM:243800
Cardiac Valvular Dysplasia 1	Urethral diverticulum, Hydroureter, Hydronephrosis	OMIM:212093
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Micrognathia, Flexion contracture, Cleft palate, Atrophic scars, Hyperextensible skin, Narrow mou...	OMIM:130070
Curry-Jones Syndrome	Aplasia/Hypoplasia of the skin, Hypopigmented skin patches	ORPHA:1553
Congenital Tracheal Stenosis	Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A...	ORPHA:141127
Xeroderma Pigmentosum, Complementation Group A	Hypermelanotic macule, Keratitis, Conjunctivitis, Dermal atrophy, Verrucous epidermal nevus, Eryt...	OMIM:278700
Acromesomelic Dysplasia 1	Redundant skin on fingers	OMIM:602875
Autosomal Recessive Faciodigitogenital Syndrome	Micrognathia, Open bite, Deep philtrum, Wide mouth, Hyperextensible skin, High palate, Everted lo...	ORPHA:1974
Adams-Oliver Syndrome	Aplasia cutis congenita, Aplasia/Hypoplasia of the skin	ORPHA:974
Metachromatic Leukodystrophy	Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Abnorm...	ORPHA:512
Malignant Atrophic Papulosis	Peritonitis, Dermal atrophy, Arteritis, Abnormality of the lower urinary tract, Papule	ORPHA:679
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Flexion contracture, Cleft palate, Hyperextensible skin, High palate, Long philtrum...	OMIM:271640
Kikuchi-Fujimoto Disease	Enlargement of parotid gland, Abnormality of the gastrointestinal tract, Oral ulcer	ORPHA:50918
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Redundant skin	OMIM:250220
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Gastritis, Malabsorption, Ileus, Colitis, Abnormal intestine morphology, Recurrent gastroenteritis	ORPHA:37042
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Dry skin, Skin rash, Dermal atrophy	ORPHA:220295
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Renal insufficiency, Patent ductus arteriosus, Dilatation of the renal pelvis, Stage ...	OMIM:619534
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Hypermelanotic macule, Persis...	ORPHA:740
Geleophysic Dysplasia 1	Camptodactyly of finger, Lack of skin elasticity, Wide mouth, Long philtrum, Joint contracture of...	OMIM:231050
Ehlers-Danlos Syndrome, Vascular Type	Cystocele, Cigarette-paper scars, Hyperextensible skin, Periodontitis, Thin vermilion border, Mol...	OMIM:130050
Linear Skin Defects With Multiple Congenital Anomalies 3	Asymmetric, linear skin defects, Delayed eruption of primary teeth	OMIM:300952
Adams-Oliver Syndrome 5	Cutis marmorata telangiectatica congenita, Aplasia cutis congenita, Right ventricular hypertrophy	OMIM:616028
Sarcoidosis	Enlargement of parotid gland, Abnormality of the gastrointestinal tract, Enlarged lacrimal glands...	ORPHA:797
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cholelithiasis, Gastric ulcer, Esophageal varix	ORPHA:2072
Xeroderma Pigmentosum, Variant Type	Keratitis, Conjunctivitis, Dermal atrophy	OMIM:278750
Xeroderma Pigmentosum, Complementation Group E	Keratitis, Conjunctivitis, Dermal atrophy	OMIM:278740
Syndromic Diarrhea	Villous atrophy, Gastritis, Colitis, Hypoplasia of the thymus, Hepatoblastoma	ORPHA:84064
Xeroderma Pigmentosum, Complementation Group C	Keratitis, Conjunctivitis, Dermal atrophy	OMIM:278720
Down Syndrome	Redundant neck skin, Protruding tongue, Patent ductus arteriosus, Macroglossia, Malar flattening	OMIM:190685
Ethylene Glycol Poisoning	Gastritis	ORPHA:31826
Baller-Gerold Syndrome	Abnormality of the kidney, Micrognathia, Erythema, Cleft palate, Thin vermilion border, High pala...	OMIM:218600
Autoimmune Lymphoproliferative Syndrome	Gastritis, Colitis, Recurrent aphthous stomatitis, Hepatocellular carcinoma, Neoplasm of the tongue	ORPHA:3261
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Duodenal ulcer, Gastritis, Oral ulcer, Colitis, Anoperineal fistula, Crohn's dis...	OMIM:619381
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Patent ductus arteriosus, Redundant neck skin	OMIM:618164
Yunis-Varon Syndrome	Thin upper lip vermilion, Redundant neck skin, Hypospadias, Premature loss of primary teeth, Micr...	OMIM:216340
Corneal Dystrophy, Congenital Stromal		OMIM:610048

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dcn

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dcn.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Dcn^{em1(IMPC)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Dcn^{em1(IMPC)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Dcn^em2Wtsi	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Dcn^tm1d	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Dcn^em1Wtsi	PMC5827107
Decorin and biglycan are necessary for maintaining collagen fibril structure, fiber realignment, and mechanical properties of mature tendons.	Matrix biology : journal of the International Society for Matrix Biology (September 2017)	Dcn^{em1(IMPC)Wtsi}	PMC5705405

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MGI Allele	Allele Type	Produced
Dcn^{tm244031(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Dcn^{em1(IMPC)Wtsi}	Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Dcn MGI:94872

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

DSS Histology

Anti-nuclear antibody assay

X-ray

X-ray

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Dcn mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data