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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 Whole Body Dorso Ventral

15 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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Anti-nuclear antibody assay

Images

6 Images

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DSS Histology

Images

6 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 (847 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	Multiple gastric polyps, Abnormal gastric mucosa morphology	OMIM:175505
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
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
Lymphoma, Mucosa-Associated Lymphoid Type	Gastric lymphoma	OMIM:137245
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
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 viral infections, Recurrent protozoan infections	OMIM:308220
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, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Oocyte/Zygote/Embryo Maturation Arrest 14	Female infertility, Oocyte maturation arrest	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I	ORPHA:488191
Diffuse Gastric And Lobular Breast Cancer Syndrome	Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip	OMIM:137215
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Periodontal Ehlers-Danlos Syndrome	Periodontitis, Atrophy of alveolar ridges, Atrophic scars, Agenesis of permanent teeth, Micrognat...	ORPHA:75392
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:614196
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Elastosis Perforans Serpiginosa	Hyperkeratotic papule, Erythematous papule, Skin-colored papule, Crusting erythematous dermatitis...	ORPHA:79148
Premature Ovarian Failure 19	Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea	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	Erythema, Acute kidney injury, Nephrocalcinosis, Redundant skin, Cutis laxa	ORPHA:33111
Fetal Encasement Syndrome	Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydroguanosine level, Congenital diaphragmatic he...	OMIM:613630
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu...	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	Hydronephrosis, Camptodactyly of finger	DECIPHER:70
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Hydronephrosis, Bifid uvula, Abnormality of the urinary system	ORPHA:2669
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections	OMIM:613796
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, Recurrent candida infections	OMIM:242870
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D...	OMIM:174000
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter, Abnormal palate morphology	ORPHA:1450
Elastoderma	Erysipelas, Eczematoid dermatitis, Premature skin wrinkling, Cutis laxa, Skin nodule, Papule	ORPHA:228240
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Dermoodontodysplasia	Hypodontia, Dry skin, Thin skin	OMIM:125640
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor	OMIM:243320
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Nephronophthisis 1	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Ehlers-Danlos Syndrome, Classic Type, 2	Cigarette-paper scars, Soft, doughy skin, Atrophic scars, Molluscoid pseudotumors, Recurrent sinu...	OMIM:130010
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormality of the dentition, Eczematoid dermatitis, Abnormal dental morphology, Premature loss o...	ORPHA:1810
6P22 Microdeletion Syndrome	Hydronephrosis, Redundant skin, Patent ductus arteriosus, Abnormal palate morphology	ORPHA:251046
Alport Syndrome	Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m...	ORPHA:63
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi...	ORPHA:617
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Webbed neck, Joint contracture of the hand, Bifid uvula, Cigarette-paper scars, Dental malocclusi...	OMIM:612350
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc...	ORPHA:263665
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Absence Of Fingerprints-Congenital Milia Syndrome	Milia, Skin rash, Camptodactyly of finger, Thin skin	ORPHA:1658
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ...	ORPHA:2838
Dermoodontodysplasia	Tooth agenesis, Dry skin, Melanocytic nevus, Microdontia, Mandibular prognathia, Thin skin	ORPHA:1660
X-Linked Intellectual Disability, Schimke Type	Ankle flexion contracture, Elbow flexion contracture, Vesicoureteral reflux, Knee flexion contrac...	ORPHA:85285
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Cutis laxa, Papule, Redundant skin, Increased number of skin folds	ORPHA:436274
Acrogeria	Skin ulcer, Micrognathia, Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Thin skin	ORPHA:2500
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atypical scarring of skin, Skeletal muscle atrophy, Atrophic scars, Abnormality of primary teeth,...	ORPHA:75496
Congenital Disorder Of Glycosylation, Type Iir	Cutis laxa, Micrognathia, Hypospadias	OMIM:301045
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis	OMIM:618913
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep...	OMIM:613496
Macdermot-Winter Syndrome	Hydronephrosis, Camptodactyly of finger	OMIM:247990
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Decreased glomerular filtration rate, Re...	ORPHA:85450
Prolidase Deficiency	Erythema, Carious teeth, Skin ulcer, Hypoplasia of the zygomatic bone, Dry skin, Micrognathia, Re...	ORPHA:742
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis	OMIM:263000
Hereditary Acrokeratotic Poikiloderma	Gingival bleeding, Erythema, Hypopigmented skin patches, Open bite, Ankyloglossia, Narrow mouth, ...	ORPHA:2907
Glycogen Storage Disease Iv	Arthrogryposis multiplex congenita, Flexion contracture, Skeletal muscle atrophy, Tubulointerstit...	OMIM:232500
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Renal Hypodysplasia/Aplasia 2	Redundant skin, Bilateral renal agenesis	OMIM:615721
Ménétrier Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor...	ORPHA:2494
Dent Disease	Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri...	ORPHA:1652
Congenital Myopathy 19	Congenital contracture, Skeletal muscle atrophy, Micrognathia, Renal atrophy, Hydronephrosis, Fac...	OMIM:618578
Immunodeficiency 116	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections	OMIM:608957
Weaver Syndrome	Retrognathia, Long philtrum, Camptodactyly of finger, Micrognathia, Redundant skin, Deep philtrum...	ORPHA:3447
Hypohidrotic Ectodermal Dysplasia	Abnormality of the dentition, Hypoplasia of the maxilla, Eczematoid dermatitis, Tooth agenesis, A...	ORPHA:238468
Brooke-Spiegler Syndrome	Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo...	ORPHA:79493
Congenital Heart Defects And Ectodermal Dysplasia	Widely spaced teeth, Dry skin, Premature loss of primary teeth, Microdontia, Thin skin	OMIM:617364
Epidermolysis Bullosa Simplex With Pyloric Atresia	Aplasia cutis congenita of scalp, Skin erosion, Muscular dystrophy, Abnormality of the urinary sy...	ORPHA:158684
Senior-Loken Syndrome 1	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati...	OMIM:266900
Oculogastrointestinal Muscular Dystrophy	Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-...	ORPHA:1876
Chronic Intestinal Pseudoobstruction	Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis	ORPHA:2978
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Arthrochalasia Ehlers-Danlos Syndrome	Micrognathia, Retrognathia, Hyperextensible skin, Thin skin	ORPHA:1899
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Focal Dermal Hypoplasia	Abnormality of the dentition, Multicystic kidney dysplasia, Erythema, Camptodactyly of finger, Ho...	ORPHA:2092
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Atypical scarring of skin, Striae distensae, Petechiae, Hyperextensible skin, Thin skin	OMIM:225310
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Thenar muscle atrophy, Flexion contracture, Hyperextensible skin, Thin skin	ORPHA:157965
Familial Partial Lipodystrophy, Dunnigan Type	Thin skin, Myopathy, Xanthomatosis, Aplasia/Hypoplasia of the skin, Glomerulopathy, Advanced erup...	ORPHA:2348
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ...	OMIM:143400
Autosomal Dominant Deafness-Onychodystrophy Syndrome	Abnormality of the dentition, Small, conical teeth, Aplasia cutis congenita, Oligodontia	ORPHA:79499
Cat-Eye Syndrome	Preauricular skin tag, Preauricular pit, Renal hypoplasia/aplasia, Hydronephrosis, Abnormal local...	ORPHA:195
Rapp-Hodgkin Syndrome	Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Conical tooth, Velopharyngeal insufficienc...	OMIM:129400
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Aplasia/Hypoplasia of the skin, Dermal atrophy, Macule	ORPHA:1962
Congenital Heart Defects And Skeletal Malformations Syndrome	Soft skin, Carious teeth, Dental crowding, Downturned corners of mouth, Congenital diaphragmatic ...	OMIM:617602
Variant Abeta2M Amyloidosis	Gastrointestinal infarctions, Abnormal salivary gland morphology, Intestinal perforation	ORPHA:314652
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency	Cutis laxa, Papule, Redundant skin	ORPHA:91135
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast...	OMIM:619079
Focal Facial Dermal Dysplasia Type Iii	Hypopigmented skin patches, Downturned corners of mouth, Redundant skin, Aplasia/Hypoplasia of th...	ORPHA:1807
19Q13.11 Microdeletion Syndrome	Retrognathia, Dry skin, Wide mouth, Solitary median maxillary central incisor, Aplasia cutis cong...	ORPHA:217346
X-Linked Ehlers-Danlos Syndrome	Hyperextensible skin, Thin skin	ORPHA:75497
Gapo Syndrome	High, narrow palate, Epidermoid cyst, Eruption failure, Long philtrum, Thick lower lip vermilion,...	OMIM:230740
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:613944
Cranioectodermal Dysplasia 4	Recurrent pneumonia, Stage 5 chronic kidney disease, Taurodontia, Smooth philtrum, Cutis laxa, Th...	OMIM:614378
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Erythema, Dermal atrophy, Milia, Erythematous plaque, Crusting erythematous dermatitis, Thin skin	ORPHA:158673
Dysmorphism-Cleft Palate-Loose Skin Syndrome	Micrognathia, Redundant skin, Cleft palate	ORPHA:1779
8P23.1 Duplication Syndrome	Hydronephrosis, Long philtrum, Thick vermilion border	ORPHA:251076
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur...	OMIM:161950
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Or...	ORPHA:567544
Distal Duplication 6P	Renal hypoplasia, Abnormality of the urinary system, Dry skin, Micrognathia, Narrow mouth, Hydron...	ORPHA:1745
Ehlers-Danlos Syndrome, Periodontal Type, 2	Gingival bleeding, Atypical scarring of skin, Periodontitis, Gingival recession, Nephroblastoma, ...	OMIM:617174
Ehlers-Danlos Syndrome, Periodontal Type, 1	Gingival bleeding, Soft skin, Periodontitis, Premature loss of teeth, Gingival recession, Atrophi...	OMIM:130080
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Renal cyst, Tu...	OMIM:263200
Macs Syndrome	Soft skin, Eclabion, Long philtrum, Recurrent aphthous stomatitis, Micrognathia, Gingival overgro...	OMIM:613075
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Micrognathia, Skin dimple, Thin vermilion border, Short philtrum, Thin skin	ORPHA:261304
Scarf Syndrome	Webbed neck, Long philtrum, Diastasis recti, Cutis laxa, Enamel hypoplasia, Hypocalcification of ...	ORPHA:3134
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Soft skin, Atrophic scars, Hyperextensible skin, Thin skin	OMIM:225320
Familial Cervical Artery Dissection	Striae distensae, Facial palsy, Thin skin	ORPHA:36382
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Distal lower limb muscle weakness, Distal lower limb amyotrophy, Distal upper limb amyotrophy, Hy...	OMIM:619764
Trichorhinophalangeal Syndrome Type 2	Abnormality of the dentition, Long philtrum, Recurrent urinary tract infections, Vesicoureteral r...	ORPHA:502
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive	Congenital absence of skin of limbs, Aplasia cutis congenita	OMIM:600360
Orofaciodigital Syndrome Xv	Hydronephrosis, Midline notch of upper alveolar ridge, Lobulated tongue	OMIM:617127
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Striae distensae, Nephrolithiasis, Ecchymosis, Facial erythema, Purpura,...	OMIM:219090
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermilion, Hydronephrosis, Patent...	OMIM:619797
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of the zygomatic bone, Retrognathia, Abnormal dental enamel morphology, Dry skin, Micr...	ORPHA:1812
Recombinant Chromosome 8 Syndrome	Abnormality of the dentition, Joint contracture of the hand, Downturned corners of mouth, Thick l...	OMIM:179613
Renal Failure, Progressive, With Hypertension	Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria	OMIM:161900
Tetraploidy	Preauricular skin tag, Micrognathia, Renal hypoplasia/aplasia, Hydronephrosis, Short philtrum, Cl...	ORPHA:3305
Silver-Russell Syndrome 2	Micrognathia, Downturned corners of mouth, Thin skin	OMIM:618905
Musculocontractural Ehlers-Danlos Syndrome	Cleft lip, Functional abnormality of the bladder, Microretrognathia, Decreased muscle mass, Long ...	ORPHA:2953
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E...	ORPHA:84085
Rafiq Syndrome	Malar flattening, Thin upper lip vermilion, Smooth philtrum, Short philtrum, Cutis laxa, Flexion ...	OMIM:614202
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Fundic gland polyposis, Gastric adenocarcinoma, Melena	OMIM:619182
Juvenile Hyaline Fibromatosis	Skeletal muscle atrophy, Skin ulcer, Gingival overgrowth, Gingival fibromatosis, Aplasia/Hypoplas...	ORPHA:2028
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Carious teeth, Periodontitis, Inflammation of the large intestine, Ulcerative c...	ORPHA:79259
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Purpura, Skin ulcer, Thin skin	ORPHA:743
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Trichothiodystrophy 8, Nonphotosensitive	Eczematoid dermatitis, Retrognathia, Long philtrum, Thin upper lip vermilion, Cutis laxa	OMIM:619691
Amyloidosis, Finnish Type	Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Cutis laxa, Nephrotic syndrome...	OMIM:105120
Ulerythema Ophryogenesis	Hyperkeratotic papule, Erythematous papule, Dermal atrophy, Dry skin, Facial erythema, Contact de...	ORPHA:3406
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Retrognathia, Micrognathia, Vesicoureteral reflux, Hydronephrosis, Arthrogryposis multiplex conge...	OMIM:618265
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness	Hydronephrosis, Hydroureter	OMIM:264140
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Oral mucosa...	ORPHA:79403
Porokeratosis Of Mibelli	Aplasia/Hypoplasia of the skin, Pruritus	ORPHA:735
Oxoglutaric Aciduria	Abnormal salivary gland morphology	ORPHA:31
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Recurrent sinusitis, Purpura, Tubulointe...	OMIM:607944
Recon Progeroid Syndrome	Skeletal muscle atrophy, Dental crowding, Dry skin, Prominence of the premaxilla, Smooth philtrum...	OMIM:620370
Agel Amyloidosis	Diffuse skin atrophy, Dry skin, Stage 5 chronic kidney disease, Proteinuria, Cutis laxa, Keratoco...	ORPHA:85448
Bor Syndrome	Preauricular skin tag, Multicystic kidney dysplasia, Retrognathia, Vesicoureteral reflux, Uretero...	ORPHA:107
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology	ORPHA:234
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Aplasia/Hypoplasia of the skin, Purpura, Thin skin	ORPHA:745
Zaki Syndrome	Preauricular skin tag, Renal agenesis, Median pseudocleft lip, Micrognathia, Congenital diaphragm...	OMIM:619648
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron...	OMIM:191800
Cranioectodermal Dysplasia 3	Nephronophthisis, Widely spaced teeth, Dry skin, Micrognathia, Stage 5 chronic kidney disease, Cu...	OMIM:614099
Cutis Laxa, Autosomal Recessive, Type Iiia	Distal amyotrophy, Narrow mouth, Hyperextensible skin, Cutis laxa, Thin skin	OMIM:219150
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal hypoplasia, Renal insufficiency, Patent ductus arteriosus	OMIM:615996
Weyers Ulnar Ray/Oligodactyly Syndrome	Cleft upper lip, Micrognathia, Hydronephrosis, Solitary median maxillary central incisor, High pa...	OMIM:602418
Premature Ovarian Failure 5	Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu...	OMIM:611548
Bohring-Opitz Syndrome	Narrow palate, Retrognathia, Cleft upper lip, Nevus flammeus, Vesicoureteral reflux, Micrognathia...	OMIM:605039
Suleiman-El-Hattab Syndrome	Webbed neck, Preauricular skin tag, Microretrognathia, Downturned corners of mouth, Long philtrum...	OMIM:618950
Lethal Congenital Contracture Syndrome 2	Hydronephrosis, Arthrogryposis multiplex congenita, Micrognathia, Skeletal muscle atrophy	OMIM:607598
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Arima Syndrome	Nephronophthisis, Stage 5 chronic kidney disease, Wide mouth, Renal sodium wasting, Hematuria, Pr...	OMIM:243910
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu...	OMIM:602522
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Redundant skin, Microdontia, Hypodontia, Everted lower lip vermilion, ...	ORPHA:782
Image Syndrome	Hydronephrosis, Hypospadias	ORPHA:85173
Classical-Like Ehlers-Danlos Syndrome Type 1	Skeletal muscle atrophy, Hyperextensible skin, Thin skin	ORPHA:230839
Self-Improving Dystrophic Epidermolysis Bullosa	Skin erosion, Carious teeth, Atrophic scars, Milia, Oral mucosal blisters, Aplasia cutis congenita	ORPHA:79411
Cardiac-Valvular Ehlers-Danlos Syndrome	Dental crowding, Soft, doughy skin, Atrophic scars, Hyperextensible skin, Left ventricular hypert...	ORPHA:230851
Urofacial Syndrome 1	Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v...	OMIM:236730
Trisomy 17P	Hypoplasia of penis, Skeletal muscle atrophy, Micrognathia, Narrow mouth, Malar flattening, Wide ...	ORPHA:261290
Branchio-Oculo-Facial Syndrome	Atypical scarring of skin, Multicystic kidney dysplasia, Renal agenesis, Tooth agenesis, Preauric...	ORPHA:1297
Man1B1-Cdg	Eclabion, Malar flattening, Thin upper lip vermilion, Smooth philtrum, Cutis laxa, Multiple cafe-...	ORPHA:397941
Hereditary Xanthinuria	Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Recurrent urinary tract infec...	ORPHA:3467
Arterial Tortuosity Syndrome	Soft skin, Bifid uvula, Long philtrum, Soft, doughy skin, Micrognathia, Congenital diaphragmatic ...	OMIM:208050
Myopathic Ehlers-Danlos Syndrome	High, narrow palate, Increased variability in muscle fiber diameter, Joint contracture of the han...	ORPHA:536516
Cutis Laxa, Autosomal Recessive, Type Iiib	Elbow flexion contracture, Excessive wrinkled skin, Cutis laxa, Thin vermilion border, Dermal tra...	OMIM:614438
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Chronic otitis media, Diastema, Micrognathia, Hydronephrosis, Short ph...	OMIM:609757
Glass Syndrome	Conical tooth, Dental crowding, Long philtrum, Micrognathia, Facial hypotonia, Narrow mouth, Mala...	OMIM:612313
Progeroid Syndrome, Petty Type	Tooth agenesis, Redundant skin, Cutis laxa, Everted lower lip vermilion, Mandibular prognathia, S...	ORPHA:2963
Aldh18A1-Related De Barsy Syndrome	Hyperextensible skin	ORPHA:35664
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Cutis Laxa, Autosomal Recessive, Type Iie	High palate, Cutis laxa, Long philtrum, Thick lower lip vermilion	OMIM:619451
Atrophoderma Vermiculata	Hyperkeratotic papule, Erythema, Hypoplastic pilosebaceous units, Atrophic scars, Periauricular s...	ORPHA:79100
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Abnormal oral mucosa morphology, Soft skin, Hypoplasia of the maxilla, Conical tooth, Everted upp...	OMIM:305100
Scarf Syndrome	Webbed neck, Long philtrum, Diastasis recti, Cutis laxa, Enamel hypoplasia, Micropenis, Perineal ...	OMIM:312830
Adult Syndrome	Eczematoid dermatitis, Dermal atrophy, Dry skin, Oligodontia, Microdontia, Hypodontia, Orofacial ...	OMIM:103285
Ehlers-Danlos Syndrome, Classic-Like, 1	Unilateral renal agenesis, Atrophic scars, Striae distensae, Vesicoureteral reflux, Hyperextensib...	OMIM:606408
X-Linked Intellectual Disability Due To Gria3 Mutations	Macrodontia of permanent maxillary central incisor, Narrow palate, Thick vermilion border, Open m...	ORPHA:364028
Mitochondrial Complex I Deficiency, Nuclear Type 30	Redundant skin	OMIM:301021
Tetrasomy 15Q26	Microretrognathia, Horseshoe kidney, Hydronephrosis, Camptodactyly, High palate, Patent ductus ar...	OMIM:614846
Cutis Laxa, Autosomal Dominant 3	Dermal translucency, Unilateral renal agenesis, Cutis laxa, Premature skin wrinkling	OMIM:616603
Geroderma Osteodysplastica	Redundant skin, Malar flattening, Hyperextensible skin, Mandibular prognathia, Thin skin	ORPHA:2078
Neuralgic Amyotrophy	Bifid uvula, Upper limb muscle weakness, Narrow mouth, Redundant neck skin, Scapular winging, Cle...	ORPHA:2901
C Syndrome	Micrognathia, Renal cortical cysts, Thick anterior alveolar ridges, Cutis laxa, High palate, Wide...	OMIM:211750
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Cutis laxa, Cleft palate, Renal duplication	OMIM:270420
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Soft skin, Recurrent pneumo...	OMIM:225400
Ablepharon Macrostomia Syndrome	Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Camptodactyly of finger, Dry skin, R...	ORPHA:920
Mandibuloacral Dysplasia	Dental crowding, Contractures of the large joints, Abnormal tongue morphology, Micrognathia, High...	ORPHA:2457
Lenz-Majewski Hyperostotic Dwarfism	Abnormality of the dentition, Mandibular prognathia, Microglossia, Elbow flexion contracture, Mic...	OMIM:151050
Immunodeficiency 49	Natal tooth, Micrognathia, Psoriasiform dermatitis, Cutis laxa, Short philtrum	OMIM:617237
Xanthinuria, Type I	Pyelonephritis, Xanthine nephrolithiasis, Myopathy, Hydronephrosis, Xanthinuria	OMIM:278300
Cutis Laxa, Autosomal Recessive, Type Iia	Carious teeth, Long philtrum, Narrow mouth, Malar flattening, Excessive wrinkled skin, Redundant ...	OMIM:219200
Macrocephaly/Autism Syndrome	Long philtrum, Recurrent otitis media, Penile freckling, Cutis laxa, High palate	OMIM:605309
Joubert Syndrome 35	Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections	OMIM:618161
Short Syndrome	Dental malocclusion, Downturned corners of mouth, Delayed eruption of teeth, Premature skin wrink...	OMIM:269880
Stiff Skin Syndrome	Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Lack of skin elasticity, Nephrolithiasis	ORPHA:2833
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Bifid uvula, Acute kidney injury, Nephronophthisis, Widely spaced teeth, Stage 5 chronic kidney d...	OMIM:266920
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie...	ORPHA:2704
Pparg-Related Familial Partial Lipodystrophy	Skeletal muscle hypertrophy, Myopathy, Xanthomatosis, Aplasia/Hypoplasia of the skin, Pancreatiti...	ORPHA:79083
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Dry skin, Eclabion, Cutis laxa, Scaling skin	ORPHA:2269
Toluene Embryopathy	Hypoplasia of the zygomatic bone, Micrognathia, Hydronephrosis, Smooth philtrum, Thin vermilion b...	ORPHA:1920
Esophageal Ring, Lower	Hiatus hernia, Dysphagia	OMIM:133240
Congenital Myopathy 17	Renal hypoplasia, Dental malocclusion, Long philtrum, Ureteropelvic junction obstruction, Narrow ...	OMIM:618975
Even-Plus Syndrome	Atopic dermatitis, Renal hypoplasia, Recurrent urinary tract infections, Vesicoureteral reflux, H...	OMIM:616854
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Inflammation of the large intestine, Lymphadenitis, Skeletal muscle atrophy, Eczematoid dermatiti...	OMIM:615895
Vesicoureteral Reflux 3	Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico...	OMIM:613674
Kury-Isidor Syndrome	Long philtrum, Widely spaced teeth, Recurrent otitis media, Tented upper lip vermilion, Hydroneph...	OMIM:619762
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Soft skin, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Limb-girdle muscle weakness, ...	OMIM:112250
Fanconi Anemia, Complementation Group O	Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Small thenar eminence	OMIM:613390
Trisomy 13	High, narrow palate, Preauricular skin tag, Abnormality of the dentition, Long philtrum, Abnormal...	ORPHA:3378
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hypoplasia of the maxilla, Carious teeth, Hydroureter, Ureterocele, Renal agenesis, Selective too...	OMIM:129900
Frontometaphyseal Dysplasia 1	Ankle flexion contracture, Hypoplasia of the musculature, Skeletal muscle atrophy, Interphalangea...	OMIM:305620
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Dentinogenesis imperfecta, Carious teeth, Long philtrum, Soft, doughy skin, Atrophic scars, Micro...	ORPHA:536467
Dermatosparaxis Ehlers-Danlos Syndrome	Retrognathia, Micrognathia, Esophagitis, Hyperextensible skin, Excessive wrinkled skin, Thin skin	ORPHA:1901
De Barsy Syndrome	Delayed eruption of teeth, Decreased muscle mass, Narrow mouth, Excessive wrinkled skin, Small, c...	ORPHA:2962
Gastritis, Familial Giant Hypertrophic	Giant hypertrophic gastritis	OMIM:137280
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Thin skin	OMIM:259410
Serrated Polyposis Syndrome	Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Gastric diver...	ORPHA:157798
Cutis Laxa, Autosomal Dominant 2	Cutis laxa, Premature skin wrinkling	OMIM:614434
Netherton Syndrome	Aminoaciduria, Eczematoid dermatitis, Dry skin, Skin rash, Hydronephrosis, Erythroderma, Ectopic ...	ORPHA:634
Acrofacial Dysostosis Syndrome Of Rodriguez	Micrognathia, Narrow mouth, High palate, Short philtrum, Thin skin	OMIM:201170
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract, Subcutaneous nodule	ORPHA:873
Reynolds Syndrome	Dysphagia, Gastroesophageal reflux, Xerostomia, Abnormal gastric mucosa morphology	ORPHA:779
Microphthalmia, Lenz Type	Webbed neck, Preauricular skin tag, Abnormality of the dentition, Hydroureter, Delayed eruption o...	ORPHA:568
Pseudoprogeria Syndrome	Thin skin	ORPHA:2985
Premature Aging Syndrome, Penttinen Type	Hypoplasia of the maxilla, Keloids, Delayed eruption of teeth, Retrognathia, Dermal atrophy, Micr...	OMIM:601812
Cutis Laxa, Autosomal Recessive, Type Ic	Morgagni diaphragmatic hernia, Multiple bladder diverticula, Recurrent pneumonia, Retrognathia, L...	OMIM:613177
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Retrognathia, Diastasis recti, Open mouth, Exaggerated cupid's bow, Redundant neck skin, Hydronep...	ORPHA:254528
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis, Smooth philtrum, Increased size of the mandible, Patent ductus arteriosus	OMIM:300048
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Atrophic scars, Hyperextensible skin, Cutis laxa, Long upper lip, Joint contracture, Dermal trans...	OMIM:615349
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Gingival bleeding, Soft, doughy skin, Atrophic scars, Recurrent mandibular subluxations, Microgna...	OMIM:225410
Progressive Hemifacial Atrophy	Aplasia/Hypoplasia of the skin, Micrognathia, Abnormal mandible morphology	ORPHA:1214
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Hydroureter	OMIM:618240
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development	Hiatus hernia	OMIM:272000
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Contracture of the proximal interphalangeal joint of the 2nd finger, Soft, doughy skin, Atrophic ...	OMIM:130060
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Carious teeth, Long philtrum, Decreased muscle mass, Redundant skin, Malar flattening, Excessive ...	ORPHA:357074
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Microretrognathia, Ureteral agenesis, Redundant neck skin, Renal cyst, Arthrogr...	OMIM:236500
Oculocerebral Hypopigmentation Syndrome, Cross Type	Abnormality of the urinary system, Ureteral stenosis, Narrow mouth, Abnormal palate morphology, M...	ORPHA:2719
Axial Mesodermal Dysplasia Spectrum	Preauricular skin tag, Abnormality of the urinary system, Abnormality of the ureter, Micrognathia...	ORPHA:1834
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Long philtrum, Aplasia/Hypoplasia of the tongue, Glandular hypospadias, ...	ORPHA:1358
Xeroderma Pigmentosum	Aminoaciduria, Craniofacial hyperostosis, Abnormality of the dentition, Erythema, Keratitis, Hypo...	ORPHA:910
Distal Triplication 15Q	Dilatation of the renal pelvis, Retrognathia, Horseshoe kidney, Micrognathia, Nephroblastoma, Hyd...	ORPHA:314588
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Cutis laxa, Congenital diaphragmatic hernia	OMIM:614100
Thyrocerebrorenal Syndrome	Abnormality of the musculature of the limbs, Nephritis, Renal insufficiency	ORPHA:3327
Rahman Syndrome	Camptodactyly, Redundant skin, Nevus	OMIM:617537
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Striae distensae, Thin skin	OMIM:610489
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormality of the dentition, Dermal atrophy, Lack of skin elasticity, High palate, Flexion contr...	ORPHA:90153
Diabetic Embryopathy	Micrognathia, Renal hypoplasia/aplasia, Hydronephrosis, Aplasia/Hypoplasia of the abdominal wall ...	ORPHA:1926
Cutis Laxa-Marfanoid Syndrome	Flexion contracture, Redundant skin, Congenital diaphragmatic hernia	ORPHA:171719
Periventricular Nodular Heterotopia	Patent ductus arteriosus, Thin skin	ORPHA:98892
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Skeletal muscle atrophy, Atrophic scars, Cleft soft palate, Type 1 muscle fiber predominance, Myo...	OMIM:614557
Intellectual Disability, Buenos-Aires Type	Dental malocclusion, Open bite, Abnormal dental morphology, Hydronephrosis, High palate, Mandibul...	ORPHA:3079
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Long philtrum, Recurrent otitis...	OMIM:618494
Ogden Syndrome	High, narrow palate, Microretrognathia, Everted upper lip vermilion, Capillary malformation, Cuti...	ORPHA:276432
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Gout, Renal tu...	OMIM:162000
Exostoses With Anetodermia And Brachydactyly, Type E	Dermal atrophy	OMIM:133690
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Webbed neck, Unilateral cleft lip, Micrognathia, Hydronephrosis, Micropenis, Flexion contracture,...	OMIM:616897
Lamellar Ichthyosis	Abnormality of the dentition, Dry skin, Renal insufficiency, Lack of skin elasticity, Erythroderm...	ORPHA:313
X-Linked Dominant Chondrodysplasia Punctata	Erythematous plaque, Hydronephrosis, Scarring alopecia of scalp, Erythroderma, Scaling skin, High...	ORPHA:35173
Fibrinolytic Defect	Hyperextensible skin	OMIM:134900
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hyperextensible skin	OMIM:615937
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Skeletal muscle hypertrophy, Micrognathia, Myopathy, Xanthomatosis, Aplasia/Hypoplasia of the ski...	ORPHA:280365
Koolen-De Vries Syndrome	High, narrow palate, Abnormality of the dentition, Abnormal dental enamel morphology, Dry skin, V...	ORPHA:96169
Takenouchi-Kosaki Syndrome	Webbed neck, Unilateral renal agenesis, Dental malocclusion, Nevus, Downturned corners of mouth, ...	OMIM:616737
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Preauricular skin tag, Abnormality of the urinary system, Small hypothenar e...	ORPHA:96092
Intermediate Generalized Junctional Epidermolysis Bullosa	Atrophic scars, Milia, Oral mucosal blisters, Scarring alopecia of scalp, Aplasia cutis congenita...	ORPHA:79402
Prune Belly Syndrome	Hydroureter, Hydronephrosis, Aplasia of the abdominal wall musculature, Patent ductus arteriosus,...	OMIM:100100
Wolfram Syndrome, Mitochondrial Form	Hydronephrosis, Hydroureter	OMIM:598500
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hydronephrosis, Hypoplasia of penis, Micrognathia, Camptodactyly of finger	ORPHA:2083
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He...	OMIM:614817
Geroderma Osteodysplasticum	Abnormality of the dentition, Hypoplasia of the maxilla, Periodontitis, Premature skin wrinkling,...	OMIM:231070
Brain Malformations With Or Without Urinary Tract Defects	Renal hypoplasia, Vesicoureteral reflux, Narrow mouth, Hydronephrosis, Thin upper lip vermilion	OMIM:613735
Stuve-Wiedemann Syndrome 1	Thin skin, Carious teeth, Smooth tongue, Pursed lips, Premature skin wrinkling, Elbow flexion con...	OMIM:601559
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu...	ORPHA:449432
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Atypical scarring of skin, Milia, Scarring alopecia of scalp, Aplasia cutis c...	ORPHA:251393
Pseudoxanthoma Elasticum	Cutis laxa, Yellow papule, White oral mucosal macule, Renovascular hypertension	OMIM:264800
Marshall-Smith Syndrome	Retrognathia, Gingival overgrowth, Open mouth, Protruding tongue, Thin skin	ORPHA:561
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Moderate albuminuria, Dentinogenesis imperfecta, Periodontitis, Retrognathia, Hydronephrosis, Pru...	OMIM:619269
Dystrophic Epidermolysis Bullosa Pruriginosa	Atrophic scars, Milia, Dermal atrophy, Skin plaque, Pruritus, Subcutaneous nodule, Papule	ORPHA:89843
Congenital Disorder Of Glycosylation, Type Iq	Dry skin, Cutis laxa, Eczematoid dermatitis	OMIM:612379
Cutis Laxa, Autosomal Recessive, Type Ia	Redundant skin, Congenital diaphragmatic hernia, Hyperextensible skin, Bladder diverticulum, Cuti...	OMIM:219100
Mesomelia-Synostoses Syndrome	High, narrow palate, Long philtrum, Aplasia/Hypoplasia of the uvula, Micrognathia, Narrow mouth, ...	ORPHA:2496
Blepharonasofacial Malformation Syndrome	Long philtrum, Tooth agenesis, Redundant skin, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1252
Loeys-Dietz Syndrome 4	High, narrow palate, Bifid uvula, Broad uvula, Retrognathia, Striae distensae, Malar flattening, ...	OMIM:614816
Cardiofaciocutaneous Syndrome	Webbed neck, Hypoplasia of the zygomatic bone, Long philtrum, Multiple lentigines, Dry skin, Redu...	ORPHA:1340
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Mandibular prognathia, Open mouth, Protruding tongue, Smooth philtrum, Everted lower lip vermilio...	OMIM:617804
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Nephritis, Keloids, Unilateral renal atrophy, Melanocytic nevus, Pyelonephritis, Torticollis, Ren...	OMIM:314300
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Rheumatoid arthritis, Psoriasiform dermatitis, Renal insufficiency, Unilater...	ORPHA:49041
Spondylodysplastic Ehlers-Danlos Syndrome	Soft skin, Abnormality of the dentition, Long philtrum, Abnormality of the temporomandibular join...	ORPHA:536471
Cardiac Valvular Dysplasia, X-Linked	Cutis laxa, Thick vermilion border	OMIM:314400
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, High, narrow palate, Carious teeth, Long philtrum, Recurrent urinary tract inf...	OMIM:615873
Autosomal Recessive Cutis Laxa Type 1	Recurrent pneumonia, Multiple bladder diverticula, Urethral diverticulum, Recurrent urinary tract...	ORPHA:90349
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Joint contracture of the hand, Delayed eruption of teeth, Retrognathia, Erysipelas, Horseshoe kid...	OMIM:235510
Rin2 Syndrome	Long philtrum, Abnormal lip morphology, Gingival overgrowth, Redundant skin, Irregular dentition,...	ORPHA:217335
Recombinant 8 Syndrome	Abnormality of the dentition, Downturned corners of mouth, Cleft upper lip, Camptodactyly of fing...	ORPHA:96167
22Q11.2 Duplication Syndrome	Micrognathia, Displacement of the urethral meatus, Hydronephrosis, Smooth philtrum, Cleft palate,...	ORPHA:1727
Costello Syndrome	Abnormality of the dentition, Thick lower lip vermilion, Abnormal dental enamel morphology, Redun...	ORPHA:3071
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Arthrogryposis multiplex congenita, Retrognathia, Vesicoureteral reflux, Redundant neck skin, Hyd...	OMIM:301056
Meier-Gorlin Syndrome 1	Joint contracture of the hand, Hypoplasia of the maxilla, Micrognathia, Narrow mouth, Thick vermi...	OMIM:224690
Benign Schwannoma	Abnormal esophagus morphology, Intestinal polyposis, Abnormal parotid gland morphology	ORPHA:252164
Carpenter Syndrome 1	Joint contracture of the hand, Hypoplasia of the maxilla, Hydroureter, Agenesis of permanent teet...	OMIM:201000
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Congenital pyloric atresia, Esophageal stenosis, Oral mucosal blisters	OMIM:619817
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Skin...	ORPHA:79404
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Cutis laxa, Yellow papule	OMIM:610842
Ehlers-Danlos Syndrome, Classic-Like, 2	Webbed neck, Atypical scarring of skin, Atrophic scars, Micrognathia, Redundant skin, Hyperextens...	OMIM:618000
Focal Facial Dermal Dysplasia Type I	Downturned corners of mouth, Thick upper lip vermilion, Atrophic scars, Spotty hypopigmentation, ...	ORPHA:79133
Eec Syndrome	Carious teeth, Keratitis, Nevus, Tooth agenesis, Abnormal dental enamel morphology, Dry skin, Ves...	ORPHA:1896
Kleefstra Syndrome	Mandibular prognathia, Downturned corners of mouth, Delayed eruption of teeth, Vesicoureteral ref...	ORPHA:261494
Genitopatellar Syndrome	Multicystic kidney dysplasia, Delayed eruption of teeth, Long philtrum, Micrognathia, Knee flexio...	ORPHA:85201
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis, Contracture of the proximal interphalangeal joint of the 5th finger	OMIM:620141
Emanuel Syndrome	Tooth malposition, Recurrent otitis media, Micrognathia, Congenital diaphragmatic hernia, High pa...	ORPHA:96170
Restrictive Dermopathy 1	Skin erosion, Natal tooth, Temporomandibular joint ankylosis, Micrognathia, Narrow mouth, Submuco...	OMIM:275210
Hyperkeratosis Lenticularis Perstans	Aplasia/Hypoplasia of the skin, Papule, Skin ulcer, Pruritus	ORPHA:409
Ablepharon-Macrostomia Syndrome	Hypoplasia of the zygomatic bone, Premature skin wrinkling, Dry skin, Redundant skin, Aplastic zy...	OMIM:200110
Thanatophoric Dysplasia	Redundant skin, Patent ductus arteriosus, Abnormality of the kidney	ORPHA:2655
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Hypoplasia of the maxilla, Narrow palate, Skeletal muscle atrophy, Del...	ORPHA:192
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Webbed neck, Bifid uvula, Long philtrum, Widely spaced teeth, Preauricular pit, Thin upper lip ve...	OMIM:617506
Trisomy 1Q	Multicystic kidney dysplasia, Microretrognathia, Camptodactyly of finger, Narrow mouth, Congenita...	ORPHA:261344
Kyphoscoliotic Ehlers-Danlos Syndrome	Atypical scarring of skin, Skeletal muscle atrophy, Soft, doughy skin, Micrognathia, Myopathy, Hy...	ORPHA:536545
Alg8-Cdg	Camptodactyly, Macroglossia, Cutis laxa, Premature skin wrinkling	ORPHA:79325
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis, High palate, Limb hypertonia, Cleft palate	ORPHA:488613
Basel-Vanagaite-Smirin-Yosef Syndrome	Recurrent pneumonia, Retrognathia, Furrowed tongue, Tented upper lip vermilion, Hydronephrosis, S...	OMIM:616449
Acth-Independent Macronodular Adrenal Hyperplasia	Striae distensae, Skeletal muscle atrophy, Thin skin	OMIM:219080
Kosaki Overgrowth Syndrome	Thin upper lip vermilion, Xanthelasma, Hyperextensible skin, Thin skin	OMIM:616592
Adult Syndrome	Abnormality of the dentition, Skin ulcer, Abnormal dental morphology, Melanocytic nevus, Dry skin...	ORPHA:978
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Downturned corners of mouth, Preauricular pit, Hydronephrosis, Thin upper lip ...	ORPHA:457193
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas...	OMIM:609057
Pigmented Nodular Adrenocortical Disease, Primary, 2	Striae distensae, Pancreatitis, Thin skin	OMIM:610475
Congenital Disorder Of Glycosylation, Type Iig	Long philtrum, Micrognathia, Renal insufficiency, Narrow mouth, Hydronephrosis, Thin upper lip ve...	OMIM:611209
15Q Overgrowth Syndrome	High, narrow palate, Bifid uvula, Microretrognathia, Dental crowding, Ureterovesical stenosis, Co...	ORPHA:314585
Melnick-Needles Syndrome	Tooth malposition, Craniofacial hyperostosis, Delayed eruption of teeth, Micrognathia, Vesicouret...	ORPHA:2484
Ritscher-Schinzel Syndrome 1	Hydronephrosis, Micrognathia, Hypospadias, Cleft palate	OMIM:220210
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ...	OMIM:610984
Noonan Syndrome 4	Webbed neck, Dental malocclusion, Hydronephrosis, Thick vermilion border, Ureteral duplication, W...	OMIM:610733
Thanatophoric Dysplasia Type 2	Redundant skin, Patent ductus arteriosus, Abnormality of the kidney	ORPHA:93274
Barber-Say Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Dental malocclusion, Velopharyngeal insufficien...	OMIM:209885
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Atrophic scars, Milia, Oral mucosal blisters, Urethrovesical occlusion, Enamel hypoplasia, Aplasi...	OMIM:226730
Cutis Laxa, Autosomal Recessive, Type Iib	Long philtrum, Decreased muscle mass, Redundant skin, Malar flattening, Excessive wrinkled skin, ...	OMIM:612940
Czeizel-Losonci Syndrome	Abnormality of the urinary system, Ureteral agenesis, Micrognathia, Hydronephrosis, High palate, ...	ORPHA:2437
Al-Gazali Syndrome	Hydronephrosis, Wrist flexion contracture, Micrognathia, Recurrent pneumonia	OMIM:609465
Endove Syndrome, Limb-Brain Type	Hydronephrosis, Osteomyelitis, Neurogenic bladder, Recurrent urinary tract infections	OMIM:619218
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Atrophic scars, Hyperextensible skin, Skeletal muscle atrophy, Myopathy	ORPHA:300179
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Micrognathia, Malar flattening, Redundant neck skin, Alveolar ridge overgrowth, Hydronephrosis, T...	OMIM:235255
Joubert Syndrome 37	Hydronephrosis, High palate, Micropenis	OMIM:619185
Chromosome 2P16.1-P15 Deletion Syndrome	High, narrow palate, Joint contracture of the hand, Retrognathia, Long philtrum, Hydronephrosis, ...	OMIM:612513
Systemic Lupus Erythematosus	Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis	OMIM:152700
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Open bite, Dry skin, Micrognathia, High palate, Chronic otitis medi...	ORPHA:2750
Koolen-De Vries Syndrome	Narrow palate, Eczematoid dermatitis, Cleft upper lip, Recurrent urinary tract infections, Widely...	OMIM:610443
Ogden Syndrome	Everted upper lip vermilion, Facial wrinkling, Thick upper lip vermilion, Capillary malformation,...	OMIM:300855
Marden-Walker Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Multicystic kidney dysplasia, Micrognathia...	ORPHA:2461
Craniofaciofrontodigital Syndrome	Long philtrum, Premature skin wrinkling, Gingival overgrowth, Prominent median palatal raphe, Pal...	ORPHA:363705
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti...	ORPHA:449395
Johanson-Blizzard Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Oligodontia, Hydronephrosis, Microdontia...	ORPHA:2315
Kindler Epidermolysis Bullosa	Erythema, Atypical scarring of skin, Carious teeth, Periodontitis, Inflammation of the large inte...	ORPHA:2908
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Webbed neck, Microretrognathia, Long philtrum, Elbow flexion contracture, Micrognathia, Narrow mo...	OMIM:245600
Cranioectodermal Dysplasia 2	Recurrent pneumonia, Retrognathia, Widely spaced teeth, Micrognathia, Renal insufficiency, Microd...	OMIM:613610
Tooth Agenesis, Selective, 4	Tooth agenesis, Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality o...	OMIM:150400
46,Xy Sex Reversal 4	Long philtrum, Recurrent otitis media, Micrognathia, Ureteropelvic junction obstruction, Hydronep...	OMIM:154230
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormality of the dentition, Dermal atrophy, Micrognathia, Narrow mouth, Calcinosis, Thin skin	ORPHA:90154
Ehlers-Danlos Syndrome, Hypermobility Type	Striae distensae, Osteoarthritis, Hyperextensible skin, Soft skin	OMIM:130020
Pseudoxanthoma Elasticum	Nephrocalcinosis, Striae distensae, Skin rash, Excessive wrinkled skin, Hyperextensible skin, Lac...	ORPHA:758
Kaufman Oculocerebrofacial Syndrome	Preauricular skin tag, Carious teeth, Diastema, Micrognathia, Narrow mouth, Thin upper lip vermil...	OMIM:244450
Aplasia Cutis Congenita	Erythema, Skin ulcer, Aplasia cutis congenita, Aplasia cutis congenita over the scalp vertex, Con...	ORPHA:1114
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Atrophic scars, Milia, Enamel hypoplasia, Congenital localized absence of skin	OMIM:226700
Weaver Syndrome	Joint contracture of the hand, Retrognathia, Long philtrum, Melanocytic nevus, Diastasis recti, C...	OMIM:277590
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology, Dermal atrophy, Myopathy, Aplasia/Hypoplasia of the skin, Skin...	ORPHA:257
Trisomy 20P	Abnormality of the dentition, Downturned corners of mouth, Camptodactyly of finger, Abnormality o...	ORPHA:261318
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Long philtrum, Hydronephrosis, High palate	OMIM:620511
Arterial Tortuosity Syndrome	Esophagitis, Median cleft palate, Malar flattening, Hyperextensible skin, Redundant skin, Myocard...	ORPHA:3342
Anauxetic Dysplasia 3	Cutis laxa, Retrognathia, Oligodontia	OMIM:618853
Cutis Laxa, Autosomal Recessive, Type Iic	Nephrocalcinosis, Hypoplasia of the maxilla, Dental crowding, Long philtrum, Narrow mouth, Median...	OMIM:617402
9Q21.13 Microdeletion Syndrome	Hydronephrosis, Downturned corners of mouth, Abnormal tongue morphology	ORPHA:531151
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Redundant neck skin, Lacticaciduria	OMIM:619003
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Soft, doughy skin, Esophagitis, Hyperextensible skin, Hydronephrosis, Duplicated collecting syste...	ORPHA:541423
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, High, narrow palate, Bifid uvula, Mandibular prognathia, Facial hypero...	ORPHA:2658
Mosaic Trisomy 8	Hypopigmented skin patches, Camptodactyly of finger, Micrognathia, Vesicoureteral reflux, Hydrone...	ORPHA:96061
Raine Syndrome	Mandibular prognathia, Natal tooth, Hydroureter, Micrognathia, Narrow mouth, Protruding tongue, M...	OMIM:259775
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Premature skin wrinkling, Pyelonephritis, Redundant skin, Redundant ne...	ORPHA:90348
Al Amyloidosis	Gastrointestinal hemorrhage, Xerostomia, Abnormality of the gastrointestinal tract, Macroglossia,...	ORPHA:85443
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Recurrent otitis media, Mandibular prognathia, Thin skin	ORPHA:449291
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormality of the dentition, Thin skin	OMIM:607823
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Lichen Planopilaris	Skin ulcer, Hypopigmented skin patches, Neoplasm of the oral cavity, Hepatitis, Dermal atrophy, P...	ORPHA:525
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Long philtrum, Micrognathia, Vesicoureteral reflux, Congenital diaphragmatic her...	OMIM:614080
Barber-Say Syndrome	Delayed eruption of teeth, Redundant skin, Hyperextensible skin, Aplasia/Hypoplasia of the skin, ...	ORPHA:1231
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5...	OMIM:120330
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Recurrent otitis media, Narrow mouth, Synovitis, Recurrent skin infections, Hypospad...	ORPHA:3455
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Retrognathia, Micrognathia, Narrow mouth, Protruding tongue, Excessive w...	OMIM:608779
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Recurrent otitis media, Dry skin, Cleft soft palate, Micrognathia, Narrow mouth, Hip co...	OMIM:619503
Superficial Epidermolytic Ichthyosis	Erythema, Thin skin	ORPHA:455
Cushing Disease	Acne, Skin ulcer, Increased urinary cortisol level, Striae distensae, Ecchymosis, Recurrent cutan...	ORPHA:96253
Igg4-Related Thyroid Disease	Euthyroid goiter, Goiter, Sialadenitis, Pancreatic fibrosis, Nodular goiter, Dysphagia, Abnormal ...	ORPHA:64744
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Webbed neck, Unilateral renal agenesis, Dental malocclusion, Nevus, Downturned corners of mouth, ...	ORPHA:487796
Webb-Dattani Syndrome	Retrognathia, Vesicoureteral reflux, Hydronephrosis, Neurogenic bladder, Deep philtrum, Hyposthen...	OMIM:615926
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Erythema, Eczematoid dermatitis, Redundant skin, Seborrheic dermatitis, Arthritis, High palate, P...	OMIM:259100
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Mandibular prognathia, Recurrent pneumonia, Retrognathia, Male urethral meat...	ORPHA:464738
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Narrow palate, Elbow flexion contracture, Renal insufficiency, Increased muscle lipid content, Kn...	OMIM:608836
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Micrognathia, Redundant neck skin, Alveolar ridge overgrowth, Hydronephrosis, Abnormal renal morp...	ORPHA:1655
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Gastric ulcer, Esophageal ulceration	OMIM:618372
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Micrognathia, Vesicoureteral reflux, Tented upper lip vermilion, Patent ductus ...	OMIM:618460
Cap Polyposis	Atrophic gastritis, Hematochezia, Colorectal polyposis	ORPHA:160148
Cerebellar-Facial-Dental Syndrome	Macrodontia of permanent maxillary central incisor, Foot joint contracture, Dental malocclusion, ...	ORPHA:444072
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Recurrent otitis media, Skin tags, Redundant skin, Palmoplantar cutis laxa, Urinary incontinence	OMIM:616482
Granulomatosis With Polyangiitis	Skin ulcer, Ureteral stenosis, Renal insufficiency, Otitis media, Skin rash, Hematuria, Proteinur...	ORPHA:900
Classical-Like Ehlers-Danlos Syndrome Type 2	Webbed neck, Tooth malposition, Widened atrophic scar, Periodontitis, Narrow palate, Micrognathia...	ORPHA:536532
C Syndrome	Multicystic kidney dysplasia, Long philtrum, Horseshoe kidney, Micrognathia, Gingival overgrowth,...	ORPHA:1308
Vacterl/Vater Association	Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Congenital diaphragmati...	ORPHA:887
Teebi-Shaltout Syndrome	High, narrow palate, Ureteral stenosis, Horseshoe kidney, Prominent palatine ridges, Narrow mouth...	OMIM:272950
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hydronephrosis, Limb joint contracture, Limb hypertonia, Patent ductus arteriosus	OMIM:620327
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Fryns Syndrome	Multicystic kidney dysplasia, Long philtrum, Micrognathia, Vesicoureteral reflux, Congenital diap...	ORPHA:2059
Hypermobile Ehlers-Danlos Syndrome	High, narrow palate, Soft skin, Atypical scarring of skin, Dental crowding, Striae distensae, Cys...	ORPHA:285
3C Syndrome	High, narrow palate, Preauricular skin tag, Micrognathia, Hydronephrosis, Orofacial cleft, Hypopl...	ORPHA:7
Gabriele-De Vries Syndrome	Abnormality of the dentition, Thick lower lip vermilion, Micrognathia, Ureteropelvic junction obs...	OMIM:617557
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Nephrocalcinosis, Delayed eruption of permanent teeth, Gingiva...	OMIM:204690
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Skeletal muscle atrophy, Oroticaciduria, Stage 5 chronic kidney di...	OMIM:222700
Microcephaly 26, Primary, Autosomal Dominant	Recurrent pneumonia, Long philtrum, Gingival overgrowth, Protruding tongue, Hydronephrosis	OMIM:619179
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Thin vermilion border, Cutis laxa, Hypoplasia of the zygomatic bone, Long philtrum	OMIM:614800
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency...	ORPHA:105
Kabuki Syndrome	Preauricular skin tag, Abnormal localization of kidney, Abnormality of the dentition, Lip pit, Wi...	ORPHA:2322
Endove Syndrome, Limb-Only Type	Hydronephrosis, Vesicoureteral reflux	OMIM:619217
Wiedemann-Rautenstrauch Syndrome	Pneumonia, Hypoplastic facial bones, Long penis, Thin skin, Downturned corners of mouth, Long phi...	OMIM:264090
Chime Syndrome	Abnormality of the dentition, Erythema, Skin ulcer, Abnormal dental morphology, Microdontia, Hydr...	ORPHA:3474
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Open bite, Ankyloglossia, Micrognathia, Chronic otitis media, Downt...	ORPHA:1507
Mosaic Trisomy 9	Webbed neck, Renal dysplasia, Camptodactyly of finger, Horseshoe kidney, Micrognathia, Hydronephr...	ORPHA:99776
Cutis Laxa, Autosomal Recessive, Type Iid	Retrognathia, Redundant skin, Cutis laxa, Micropenis, Joint contracture, Camptodactyly	OMIM:617403
Cat Eye Syndrome	Preauricular skin tag, Renal agenesis, Horseshoe kidney, Preauricular pit, Micrognathia, Vesicour...	OMIM:115470
Hoxha-Aliu Syndrome	Webbed neck, Vesicoureteral reflux, Hydronephrosis, Contracture of the proximal interphalangeal j...	OMIM:620662
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Oral mucosal blisters, Congenital localized absence of skin	OMIM:132000
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Renal agenesis, Widely-spaced maxillary central incisors, Diastema, Thick ...	OMIM:301040
Micro Syndrome	Micrognathia, Hydronephrosis, Short philtrum, High palate, Abnormal localization of kidney, Hypop...	ORPHA:2510
Thanatophoric Dysplasia Type 1	Redundant skin, Patent ductus arteriosus, Abnormality of the kidney, Excessive wrinkled skin	ORPHA:1860
Cardiofaciocutaneous Syndrome 1	Webbed neck, Abnormality of the dentition, Atopic dermatitis, Dental malocclusion, Multiple lenti...	OMIM:115150
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Aplasia/Hypoplasia of the skin, Atypical scarring of skin, Subcutaneous nodule, Lack of skin elas...	ORPHA:1366
Gapo Syndrome	Hypopigmented skin patches, Delayed eruption of teeth, Long philtrum, Skin tags, Micrognathia, Ab...	ORPHA:2067
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the dentition, Recurrent urinary tract infections, Thick lower lip vermilion, Tent...	ORPHA:847
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Psoriasiform dermatitis, Renal insufficiency, Vesicoureteral reflux, H...	ORPHA:2237
Enamel-Renal Syndrome	Nephropathy, Nephrocalcinosis, Hypocalciuria, Yellow-brown discoloration of the teeth, Delayed er...	ORPHA:1031
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, High, narrow palate, Micrognathia, Protruding tongue, Malar flattening, Redundant ...	OMIM:214100
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydronephrosis, Urethral atresia, Enlarged kidney, Sacral dimple	OMIM:314390
Vascular Ehlers-Danlos Syndrome	Dermal translucency, Carious teeth, Periodontitis, Narrow mouth, Excessive wrinkled skin, Subcuta...	ORPHA:286
Occipital Horn Syndrome	Long philtrum, Ureteral obstruction, Redundant skin, Hyperextensible skin, Hydronephrosis, Bladde...	OMIM:304150
Thyrocerebroretinal Syndrome	Nephritis, Skeletal muscle atrophy	OMIM:274240
Osteogenesis Imperfecta, Type Ii	Thin skin	OMIM:166210
Loeys-Dietz Syndrome	Bifid uvula, Atypical scarring of skin, Camptodactyly of finger, Striae distensae, Micrognathia, ...	ORPHA:60030
Flynn-Aird Syndrome	Dermal atrophy, Carious teeth	OMIM:136300
Thakker-Donnai Syndrome	Webbed neck, Downturned corners of mouth, Narrow mouth, Congenital diaphragmatic hernia, Hydronep...	ORPHA:1780
Pelvis-Shoulder Dysplasia	Microglossia, Camptodactyly of finger, Micrognathia, Thick anterior alveolar ridges, Hydronephros...	ORPHA:2839
Alpha-1-Antitrypsin Deficiency	Gastric varix, Hepatocellular carcinoma	OMIM:613490
Microphthalmia, Syndromic 9	Renal hypoplasia, Renal malrotation, Horseshoe kidney, Micrognathia, Congenital diaphragmatic her...	OMIM:601186
Huriez Syndrome	Aplasia/Hypoplasia of the skin, Dry skin, Lack of skin elasticity	ORPHA:384
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Hypospadias, Downturned corners of mouth, Renal duplication, Absent uvula, Thin upp...	OMIM:268310
Feingold Syndrome Type 1	Nephritis, Horseshoe kidney, Micrognathia, Renal insufficiency, Vesicoureteral reflux, Hydronephr...	ORPHA:391641
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Micrognathia, Hydroneph...	OMIM:617913
Alg12-Cdg	Recurrent pneumonia, Micrognathia, Redundant skin, Chronic rhinitis, Thin upper lip vermilion, Mi...	ORPHA:79324
Baraitser-Winter Cerebrofrontofacial Syndrome	Webbed neck, Hydroureter, Retrognathia, Long philtrum, Micrognathia, Hydronephrosis, Abnormality ...	ORPHA:2995
Congenital Disorder Of Glycosylation, Type It	Bifid uvula, Hepatitis, Recurrent otitis media, Micrognathia, Rhabdomyolysis, Hydronephrosis, Chr...	OMIM:614921
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency...	ORPHA:93552
Hyperphosphatasia-Intellectual Disability Syndrome	Bifid uvula, Downturned corners of mouth, Micrognathia, Tented upper lip vermilion, Hydronephrosi...	ORPHA:247262
Carpenter Syndrome 2	High, narrow palate, Webbed neck, Narrow palate, Carious teeth, Dental malocclusion, Retrognathia...	OMIM:614976
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Cleft lip, Microphallus, Micrognathia, Vesicoureteral reflux, Congenital diaphr...	OMIM:618454
Aarskog-Scott Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of teeth, Long philtrum...	ORPHA:915
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Abnormality of the dentition, Renal dysplasia, Long philtrum, Sacral dimple, Hydrone...	OMIM:300968
15q26 overgrowth syndrome	Mandibular prognathia, Duplication of renal pelvis, Renal agenesis, Camptodactyly of finger, Hors...	DECIPHER:81
Holoprosencephaly 3	Bifid uvula, Cleft lip, Malar flattening, Hydronephrosis, Solitary median maxillary central incis...	OMIM:142945
Atypical Werner Syndrome	Skeletal muscle atrophy, Skin ulcer, Glycosuria, Neoplasm of the oral cavity, Micrognathia, Abnor...	ORPHA:79474
Frontometaphyseal Dysplasia	Bifid uvula, Hypoplasia of the musculature, Keloids, Joint contracture of the hand, Interphalange...	ORPHA:1826
ERI1-related disease	Velopharyngeal insufficiency, Micrognathia, Vesicoureteral reflux, Hydronephrosis, High palate	OMIM:608739
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Retrognathia, Long philtrum, Camptodactyly of finger, Narrow mouth,...	ORPHA:261349
Beckwith-Wiedemann Syndrome	Nephropathy, Mandibular prognathia, Melanocytic nevus, Nevus flammeus, Diastasis recti, Congenita...	ORPHA:116
Warburg-Cinotti Syndrome	Ankle flexion contracture, Erythema, Dental crowding, Elbow flexion contracture, Gingival overgro...	OMIM:618175
Trichorhinophalangeal Syndrome, Type Ii	Recurrent pneumonia, Carious teeth, Nevus, Hyperplasia of the maxilla, Recurrent otitis media, Pr...	OMIM:150230
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hyperpigmented/hypopigmented macules, Proximal muscle weakness in lower limbs, Narrow mouth, Urin...	ORPHA:280633
Au-Kline Syndrome	Chronic kidney disease, Bifid uvula, Dilatation of the renal pelvis, Downturned corners of mouth,...	OMIM:616580
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta, Thin skin	OMIM:166200
Plasminogen Deficiency, Type I	Nephritis, Periodontitis, Gingival overgrowth, Nephrolithiasis, Gingivitis, Conjunctivitis	OMIM:217090
Specific Granule Deficiency 2	Tooth malposition, Conical tooth, Recurrent pneumonia, Recurrent otitis media, Hyperextensible sk...	OMIM:617475
Tarp Syndrome	Horseshoe kidney, Micrognathia, Hydronephrosis, High palate, Glossoptosis, Tongue nodules, Cleft ...	OMIM:311900
Otopalatodigital Syndrome Type 2	Camptodactyly of finger, Ureteral obstruction, Micrognathia, Narrow mouth, Hypoplastic frontal si...	ORPHA:90652
Williams-Beuren Syndrome	Recurrent otitis media, Open mouth, Soft skin, Renal insufficiency, Abnormal renal morphology, Hy...	OMIM:194050
Autosomal Recessive Spastic Paraplegia Type 20	Distal amyotrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Increased overbite, Hydro...	ORPHA:101000
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Webbed neck, Joint contracture of the hand, Duplicated collecting system, Cleft lip, Delayed erup...	OMIM:280000
Menkes Disease	Cutis laxa	OMIM:309400
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Long philtrum, Atrophic scars, Diastasis recti, Narrow mouth, Hyperextensible ...	OMIM:601776
Stromme Syndrome	Bilateral renal hypoplasia, Micrognathia, Myopathy, Hydronephrosis, Wide mouth, Cleft palate	OMIM:243605
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Enuresis, Dental malocclusion, Retrognathia, Diastema, Ch...	ORPHA:96121
Cutis Marmorata Telangiectatica Congenita	Skin erosion, Multicystic kidney dysplasia, Micrognathia, Displacement of the urethral meatus, Ap...	ORPHA:1556
Combined Oxidative Phosphorylation Deficiency 5	Abnormal renal tubule morphology, Retrognathia, Redundant neck skin	OMIM:611719
Zellweger Syndrome	Multicystic kidney dysplasia, Micrognathia, Hydronephrosis, High palate, Hypospadias	ORPHA:912
Osteogenesis Imperfecta	Dentinogenesis imperfecta, Abnormality of the dentition, Carious teeth, Dental malocclusion, Dela...	ORPHA:666
Baller-Gerold Syndrome	Abnormality of the ureter, Micrognathia, Vesicoureteral reflux, Narrow mouth, Hydronephrosis, Hig...	ORPHA:1225
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Erythema, Nevus, Cleft upper lip, Micrognathia, Hydronephrosis, Epider...	OMIM:308050
Ehlers-Danlos Syndrome, Classic Type, 1	Cigarette-paper scars, Molluscoid pseudotumors, Recurrent sinusitis, Hyperextensible skin, Osteoa...	OMIM:130000
Opitz Gbbb Syndrome	Recurrent aspiration pneumonia, Abnormality of the urinary system, Natal tooth, Cleft lip, Long p...	ORPHA:2745
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Renal amyloidosis, Foot joint contracture, IgA deposition in the glomerul...	ORPHA:79408
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Flexion contracture, Aplasia cutis congenita	OMIM:612138
Kleefstra Syndrome Due To A Point Mutation	Abnormality of the dentition, Natal tooth, Thick lower lip vermilion, Vesicoureteral reflux, Hype...	ORPHA:261652
Intellectual Developmental Disorder, Autosomal Dominant 53	Hydronephrosis, Blue nevus, Wide mouth, Micropenis	OMIM:617798
Acrofacial Dysostosis, Palagonia Type	High, narrow palate, Unilateral cleft lip, Dermal atrophy, Micrognathia, Malar flattening, Oligod...	ORPHA:1787
Nijmegen Breakage Syndrome	Recurrent pneumonia, Cleft upper lip, Recurrent urinary tract infections, Recurrent otitis media,...	OMIM:251260
Wolfram Syndrome 1	Hydronephrosis, Neurogenic bladder, Hydroureter	OMIM:222300
Lipodystrophy, Familial Partial, Type 7	Lower limb muscle weakness, Facial wrinkling, Dry skin, Narrow mouth, Recurrent pancreatitis, Pol...	OMIM:606721
Robinow Syndrome, Autosomal Dominant 1	Micrognathia, Short lingual frenulum, Short hard palate, High palate, Downturned corners of mouth...	OMIM:180700
Hypouricemia, Renal, 1	Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper...	OMIM:220150
Pfeiffer Syndrome Type 3	Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, High palate, Cleft palate	ORPHA:93260
Acrofrontofacionasal Dysostosis 2	High palate, Hypospadias, Sacral dimple, Redundant neck skin	OMIM:239710
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Dermal atrophy, Micrognathia, Stage 5 chronic kidney disease, Narrow mouth, High...	OMIM:608612
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Micrognathia, Narrow mouth, Lack of skin elasticity, Aplasia/Hypoplasia of the skin, Flexion cont...	ORPHA:1979
Simple Cryoglobulinemia	Localized skin lesion, Nephritis, Viral hepatitis, Renal insufficiency, Acral ulceration, Mesangi...	ORPHA:91139
Congenital Disorder Of Glycosylation, Type Iiaa	Patent ductus arteriosus after premature birth, Unilateral renal agenesis, Hydronephrosis, Knee f...	OMIM:620454
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Atrophic scars, Bladder diverticulum, Hyperextensible skin, Soft skin	OMIM:617821
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Dermal translucency, Oral leukoplakia, Thin skin	OMIM:612199
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Downturned corners of mouth, Furrowed tongue, Preauricular pit, Vesicoureteral reflu...	ORPHA:453499
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ...	ORPHA:2973
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Duane-Radial Ray Syndrome	Renal hypoplasia, Renal agenesis, Horseshoe kidney, Pectoralis hypoplasia, Crossed fused renal ec...	OMIM:607323
Distal Deletion 12Q	High, narrow palate, Congenital hypertrophy of left ventricle, Microglossia, Long philtrum, Elbow...	ORPHA:96149
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Nephrotic syndrome, Recurrent pneumonia, Proteinur...	OMIM:617303
Dermatoosteolysis, Kirghizian Type	Abnormality of the dentition, Keratitis, Skin ulcer, Oligodontia, Aplasia/Hypoplasia of the skin,...	ORPHA:1657
Melioidosis	Abnormal parotid gland morphology, Parotitis	ORPHA:31202
Igg4-Related Aortitis	Hydronephrosis, Increased inflammatory response	ORPHA:449400
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Glandular hypospadias, Renal hypoplasia/aplasia, Urethral stricture...	ORPHA:2473
X-Linked Creatine Transporter Deficiency	Redundant skin, Open mouth, Malar flattening	ORPHA:52503
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enlargement of par...	ORPHA:79078
Macular Degeneration, Age-Related, 3	Distal amyotrophy, Hyperextensible skin	OMIM:608895
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hypoplasia of the maxilla, Carious teeth, Hydroureter, Renal agenesis, Ureterocele, Megacystis, S...	OMIM:604292
Pemphigus Erythematosus	Localized skin lesion, Skin erosion, Focal dermal aplasia/hypoplasia, Hypopigmented skin patches,...	ORPHA:79480
Dubowitz Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Eczematoid dermatitis, Dry skin, Microgn...	ORPHA:235
Monosomy 22Q13.3	Dental malocclusion, Dental crowding, Recurrent pyelonephritis, Vesicoureteral reflux, Malar flat...	ORPHA:48652
Cousin Syndrome	Joint contracture of the hand, Microglossia, Micrognathia, Alveolar ridge overgrowth, Hydronephro...	OMIM:260660
Adams-Oliver Syndrome 4	Aplasia cutis congenita, Patent ductus arteriosus	OMIM:615297
Robinow Syndrome	Webbed penis, Tooth malposition, Multicystic kidney dysplasia, Dental malocclusion, Dental crowdi...	ORPHA:97360
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Velopharyngeal insufficiency, Hypoplasia of the zygomatic bone, Micrognathia, Vesicoureteral refl...	OMIM:620663
Myh9-Related Disease	Nephropathy, Nephritis, Renal insufficiency, Proteinuria	ORPHA:182050
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydronephrosis, High palate, Ureteral triplication, Patent ductus arteriosus	OMIM:104350
Williams Syndrome	Carious teeth, Open bite, Micrognathia, Myopathy, Everted lower lip vermilion, Patent ductus arte...	ORPHA:904
Noonan Syndrome 8	Webbed neck, Eczematoid dermatitis, Hyperextensible skin, Palmoplantar cutis laxa, Left ventricul...	OMIM:615355
Campomelic Dysplasia	Hydronephrosis, Micrognathia, Cleft palate, Skin dimple	ORPHA:140
Encephalocraniocutaneous Lipomatosis	Nevus psiloliparus, Hydronephrosis, Pelvic kidney	OMIM:613001
Pallister-Hall Syndrome	Renal hypoplasia, Microglossia, Hydroureter, Natal tooth, Renal dysplasia, Cleft upper lip, Dista...	OMIM:146510
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Inflammation of the large intestine, Gastritis	OMIM:618108
Flynn-Aird Syndrome	Dermal atrophy, Carious teeth, Skeletal muscle atrophy, Skin ulcer	ORPHA:2047
Dyskeratosis Congenita	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Periodontitis, Skin ulcer...	ORPHA:1775
Ledderhose Disease	Subcutaneous nodule, Lack of skin elasticity	ORPHA:199251
Cutis Laxa, Autosomal Dominant 1	Long philtrum, Redundant skin, Hyperextensible skin, Cutis laxa, Bronchiectasis	OMIM:123700
Trisomy 18	Webbed neck, Microretrognathia, Camptodactyly of finger, Narrow mouth, Congenital diaphragmatic h...	ORPHA:3380
3Mc Syndrome 1	Cleft lip, Dental crowding, Cleft upper lip, Diastasis recti, Hydronephrosis, Cleft palate, Paten...	OMIM:257920
Osteopetrosis With Renal Tubular Acidosis	Tooth malposition, Abnormality of the dentition, Retrognathia, Thick lower lip vermilion, Persist...	ORPHA:2785
Apert Syndrome	Acne, Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Malar flattening, Hydronephros...	OMIM:101200
Alg9-Cdg	Aplasia cutis congenita of scalp, Bifid uvula, Hypoplasia of the musculature, Hypoplasia of the b...	ORPHA:79328
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Dental crowding, Dermal atrophy, Micrognathia, Narrow mouth, Lack of skin elasticity, Joint contr...	OMIM:615381
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis, Erythroderma, Malar flattening	OMIM:302960
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Carious teeth, Skeletal muscle atrophy, Urinary rete...	ORPHA:90324
Spondylo-Ocular Syndrome	Webbed neck, Long philtrum, Preauricular pit, Hyperextensible skin, Facial hypotonia, Thin vermil...	ORPHA:85194
Chromosome 18P Deletion Syndrome	Tooth malposition, Micrognathia, Redundant neck skin, Hypomimic face, Micropenis, High palate	OMIM:146390
Fountain Syndrome	Craniofacial hyperostosis, Erythema, Thick lower lip vermilion, Gingival overgrowth, Abnormal pal...	ORPHA:3219
Treacher Collins Syndrome 1	Cleft soft palate, Narrow mouth, Cryptorchidism, Wide mouth, Abnormal parotid gland morphology, C...	OMIM:154500
Fontaine Progeroid Syndrome	High, narrow palate, Retrognathia, Long philtrum, Premature skin wrinkling, Micrognathia, Narrow ...	OMIM:612289
Nail-Patella Syndrome	Thickened glomerular basement membrane, Nephritis, Decreased muscle mass, Elbow flexion contractu...	ORPHA:2614
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ...	ORPHA:352665
Trisomy 8P	Preauricular skin tag, Nephrocalcinosis, Bifid uvula, Retrognathia, Thin vermilion border, Multip...	ORPHA:264450
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Hydroureter, Fetal megacystis	OMIM:619362
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology, Testicular seminoma, Cryptorchidism	ORPHA:281090
Beare-Stevenson Cutis Gyrata Syndrome	Bifid uvula, Narrow palate, Natal tooth, Skin tags, Preauricular pit, Gingival overgrowth, Narrow...	OMIM:123790
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Otitis media, Myopathy, Oral ulcer, Hydronephrosis, Perianal ...	OMIM:612541
Autosomal Recessive Multiple Pterygium Syndrome	Webbed neck, Skeletal muscle atrophy, Nevus, Long philtrum, Camptodactyly of finger, Micrognathia...	ORPHA:2990
Lacrimoauriculodentodigital Syndrome	Bifid uvula, Abnormality of the dentition, Carious teeth, Xerostomia, Abnormal dental enamel morp...	ORPHA:2363
1Q21.1 Microdeletion Syndrome	Long philtrum, Ankyloglossia, Vesicoureteral reflux, Hydronephrosis, High palate, Patent ductus a...	ORPHA:250989
Craniofacioskeletal Syndrome	Micrognathia, Hypoplastic frontal sinuses, Hydronephrosis, Thin upper lip vermilion, Short philtr...	OMIM:300712
Linear Skin Defects With Multiple Congenital Anomalies 2	Congenital diaphragmatic hernia, Aplasia cutis congenita, Asymmetric, linear skin defects, Long p...	OMIM:300887
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Colonic diverticula, Gastroesophageal reflux, Persistence of primary teeth, Rectal prolapse, Esop...	OMIM:147060
Xfe Progeroid Syndrome	Dermal atrophy, Dry skin, Renal insufficiency, Proteinuria, Enamel hypoplasia, Premature loss of ...	OMIM:610965
Tetrasomy 9P	Micrognathia, Glue ear, High palate, Renal dysplasia, Downturned corners of mouth, Median cleft p...	ORPHA:3310
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydronephrosis, Hydroureter, Megacystis	OMIM:619431
Intrinsic Factor Deficiency	Absence of intrinsic factor	OMIM:261000
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Micrognathia, Congenital diaphragmatic hernia, Renal hypoplasia/apl...	ORPHA:818
Insulin-Resistance Syndrome Type B	Enlarged polycystic ovaries, Enlarged ovaries, Abnormal salivary gland morphology, Polycystic ova...	ORPHA:2298
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pneumonia, Keloids, Abnormality of the urinary system, Carious teeth, Dental crowding, Recurrent ...	ORPHA:353281
Multiple Benign Circumferential Skin Creases On Limbs	Long philtrum, Micrognathia, Increased number of skin folds, Hypospadias, Cleft palate	ORPHA:2505
Kindler Syndrome	Diffuse skin atrophy, Carious teeth, Periodontitis, Oral leukoplakia, Dermal atrophy, Phimosis, S...	OMIM:173650
Viss Syndrome	High, narrow palate, Bifid uvula, Atopic dermatitis, Microretrognathia, Broad uvula, Retrognathia...	OMIM:619472
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Dermal atrophy, Psoriasiform lesion, Malar rash, Cheilitis, Annular cutaneous...	ORPHA:163525
Erdheim-Chester Disease	Osteomyelitis, Xanthelasma, Renal insufficiency, Skin rash, Hydronephrosis, Dysuria	ORPHA:35687
Combined Oxidative Phosphorylation Deficiency 2	Patent ductus arteriosus, Redundant neck skin	OMIM:610498
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag...	OMIM:301050
Wrinkly Skin Syndrome	Carious teeth, Delayed eruption of teeth, Decreased muscle mass, Long philtrum, Excessive wrinkle...	ORPHA:2834
White-Kernohan Syndrome	Hydroureter, Retrognathia, Horseshoe kidney, Recurrent otitis media, Tented upper lip vermilion, ...	OMIM:619426
Xp22.3 Microdeletion Syndrome	Aplasia/Hypoplasia of the skin, Sacral dimple	ORPHA:1643
Cushing Syndrome Due To Ectopic Acth Secretion	Acne, Skin ulcer, Increased urinary cortisol level, Striae distensae, Ecchymosis, Recurrent cutan...	ORPHA:99889
Hardikar Syndrome	Hypoplasia of the bladder, Hydroureter, Bladder exstrophy, Unilateral cleft lip, Recurrent urinar...	OMIM:301068
Noonan Syndrome With Multiple Lentigines	Webbed neck, Abnormal localization of kidney, Multiple lentigines, Melanocytic nevus, Excessive w...	ORPHA:500
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Crossed fused renal ectopia, Vesicoureteral reflux, Hydro...	OMIM:300707
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplasia of the maxilla, Interphalangeal joint contracture of finger, Retrognathia, Long philtr...	ORPHA:96334
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Narrow palate, Retrognathia, Long philtrum, Glandular hypospadias, Recurrent otitis media, Narrow...	OMIM:604314
Tarp Syndrome	Horseshoe kidney, Micrognathia, Alveolar ridge overgrowth, Hydronephrosis, Glossoptosis, Tongue n...	ORPHA:2886
Simpson-Golabi-Behmel Syndrome	High, narrow palate, Webbed neck, Multicystic kidney dysplasia, Mandibular prognathia, Hydrourete...	ORPHA:373
Gabriele-De Vries Syndrome	Abnormality of the dentition, Thick lower lip vermilion, Distal lower limb amyotrophy, Ureteropel...	ORPHA:506358
Melnick-Needles Syndrome	Tooth malposition, Delayed eruption of teeth, Ureteral stenosis, Recurrent otitis media, Microgna...	OMIM:309350
Neonatal Marfan Syndrome	High, narrow palate, Cutis laxa, Flexion contracture, Micrognathia	ORPHA:284979
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Downturned corners of mouth, Thick upper lip vermilion, Narrow mouth, Short lingual frenulum, Red...	OMIM:617360
Fryns Syndrome	Joint contracture of the hand, Microretrognathia, Renal agenesis, Long philtrum, Cleft upper lip,...	OMIM:229850
Desmosterolosis	Bifid uvula, Renal agenesis, Retrognathia, Dermal atrophy, Micrognathia, Narrow mouth, Submucous ...	ORPHA:35107
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Hypospadias, Eczematoid dermatitis, Multiple joint contractures, Hydro...	ORPHA:464306
Arboleda-Tham Syndrome	Webbed neck, Mandibular prognathia, Microretrognathia, Chronic otitis media, Downturned corners o...	OMIM:616268
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Hypospadias, Unilateral renal agenesis, Hydronephrosis, Renal cyst, Fl...	ORPHA:464311
8Q22.1 Microdeletion Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Long philtrum, Camptodactyly of finger, ...	ORPHA:178303
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Retrognathia, Eczematoid dermatitis, Contracture of the distal interphalangeal joint of the finge...	ORPHA:83617
Okamoto Syndrome	Webbed neck, Exaggerated median tongue furrow, Downturned corners of mouth, Open bite, Unilateral...	ORPHA:2729
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephrotic syndrome, Malar rash, Nephritis, Petechiae	OMIM:603909
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Hydronephrosis	OMIM:617093
B4Galt1-Cdg	Thin upper lip vermilion, Inflammatory abnormality of the skin, Redundant neck skin, Long philtrum	ORPHA:79332
Scalp-Ear-Nipple Syndrome	Abnormality of the dentition, Duplication of renal pelvis, Delayed eruption of teeth, Recurrent u...	ORPHA:2036
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Vesicoureteral reflux, Hydronephrosis, Smooth philtrum, Micropenis, High palate, Pelvic kidney	OMIM:618653
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Recurrent otitis media, Ankyloglossia, Cleft soft palate, Open mouth, Excessive wrinkled skin, Hi...	OMIM:619950
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cheilitis, Erythema, Hydroureter, Eczematoid dermatitis, Keratitis, Camptodactyly of finger, Abno...	ORPHA:2273
Schinzel-Giedion Syndrome	Recurrent pneumonia, Retrognathia, Delayed eruption of teeth, Abnormality of the ureter, Microgna...	ORPHA:798
Diastrophic Dysplasia	Hyperextensible skin, Micrognathia, Cleft palate, Camptodactyly of finger	ORPHA:628
Poikiloderma With Neutropenia	Recurrent pneumonia, Carious teeth, Retrognathia, Long philtrum, Recurrent otitis media, Dermal a...	OMIM:604173
Smith-Lemli-Opitz Syndrome	Recurrent otitis media, Micrognathia, Duplicated collecting system, Hypospadias, Patent ductus ar...	OMIM:270400
Floating-Harbor Syndrome	Nephrocalcinosis, Carious teeth, Dilatation of the renal pelvis, Renal agenesis, Hypoplasia of th...	ORPHA:2044
Neurooculocardiogenitourinary Syndrome	Smooth philtrum, Patent ductus arteriosus, Redundant neck skin, Downturned corners of mouth	OMIM:618652
Xeroderma Pigmentosum Variant	Dermal atrophy, Keratitis, Dry skin	ORPHA:90342
Aplasia Cutis-Myopia Syndrome	Aplasia cutis congenita, Skin ulcer	ORPHA:1117
Cutis Laxa, Autosomal Recessive, Type Ib	Retrognathia, Micrognathia, Congenital diaphragmatic hernia, Prominence of the premaxilla, Hypopl...	OMIM:614437
Microsporidiosis	Lymphadenitis, Urethritis, Abnormality of the urinary system physiology, Keratoconjunctivitis, Pr...	ORPHA:2552
Dysosteosclerosis	Abnormal dental enamel morphology, Aplasia/Hypoplasia of the skin, Craniofacial hyperostosis, Del...	ORPHA:1782
Coffin-Lowry Syndrome	Narrow palate, Dental malocclusion, Thick lower lip vermilion, Widely spaced teeth, Open mouth, H...	OMIM:303600
Ataxia-Telangiectasia	Aplasia/Hypoplasia of the skin, Multiple cafe-au-lait spots, Skeletal muscle atrophy	ORPHA:100
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Atypical scarring of skin, Skin erosion, Skeletal muscle atrophy, Nevus, Carious teeth, Ankyloglo...	ORPHA:89842
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Downturned corners of mouth, Micrognathia, Redundant neck skin, Hypospadias, Patent ductus arteri...	OMIM:217980
Keutel Syndrome	Soft, doughy skin, Dermal atrophy, Recurrent otitis media, Recurrent sinusitis	ORPHA:85202
Koolen-De Vries Syndrome Due To A Point Mutation	Hypospadias, Eczematoid dermatitis, Recurrent urinary tract infections, Sacral dimple, Abnormal d...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypospadias, Eczematoid dermatitis, Recurrent urinary tract infections, Sacral dimple, Abnormal d...	ORPHA:363958
Visceral Myopathy 1	Urinary retention, Megacystis, Vesicoureteral reflux, Hydronephrosis, Pancreatitis	OMIM:155310
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H...	ORPHA:49
Oculocerebrocutaneous Syndrome	Preauricular skin tag, Hypopigmented skin patches, Skin tags, Congenital diaphragmatic hernia, Ap...	ORPHA:1647
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Macrodontia of permanent maxillary central inc...	ORPHA:79500
Lynch Syndrome	Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Hepatocellular carcino...	ORPHA:144
Heme Oxygenase 1 Deficiency	Hematuria, Nephritis, Proteinuria	OMIM:614034
Coffin-Siris Syndrome 1	Preauricular skin tag, Renal hypoplasia, Conical tooth, Hydroureter, Retrognathia, Long philtrum,...	OMIM:135900
Werner Syndrome	Skeletal muscle atrophy, Skin ulcer, Neoplasm of the oral cavity, Lack of skin elasticity, Aplasi...	ORPHA:902
Floating-Harbor Syndrome	Atopic dermatitis, Nephrocalcinosis, Carious teeth, Downturned corners of mouth, Glandular hyposp...	OMIM:136140
Intellectual Developmental Disorder, Autosomal Dominant 42	Lower limb muscle weakness, Ureteropelvic junction obstruction, Hydronephrosis, Short philtrum, N...	OMIM:616973
Rothmund-Thomson Syndrome	Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Selective tooth agenesis,...	ORPHA:2909
Rubinstein-Taybi Syndrome 1	High, narrow palate, Hypospadias, Hypoplasia of the maxilla, Keloids, Dental crowding, Retrognath...	OMIM:180849
Wrinkly Skin Syndrome	Hypoplasia of the musculature, Carious teeth, Microretrognathia, Delayed eruption of teeth, Long ...	OMIM:278250
Mend Syndrome	Microretrognathia, Crossed fused renal ectopia, Micrognathia, Redundant neck skin, Spotty hypopig...	OMIM:300960
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Abnormal salivary gland morphology, Enlarged lacrimal glands	OMIM:181000
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Preauricular skin tag, Renal hypoplasia, Dental crowding, Retrognathia, Long philtrum, Recurrent ...	OMIM:617157
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydronephrosis, Thin upper lip vermilion, Micropenis, Short philtrum, Hypospadias, Patent ductus ...	ORPHA:163979
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal dental pulp morphology, Long philtrum, Abnormality of the sphenoid sinus, Micrognathia, ...	ORPHA:363700
Campomelic Dysplasia	Carious teeth, Long philtrum, Contracture of the distal interphalangeal joint of the fingers, Mic...	OMIM:114290
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypospadias, Renal hypoplasia, Microretrognathia, Mandibular prognathia, Renal agenesis, Long phi...	ORPHA:508498
Bardet-Biedl Syndrome	Chronic kidney disease, Inflammation of the large intestine, Skeletal muscle atrophy, Retrognathi...	ORPHA:110
Focal Dermal Hypoplasia	Dental malocclusion, Focal dermal aplasia/hypoplasia, Cleft upper lip, Delayed eruption of teeth,...	OMIM:305600
Peters Plus Syndrome	Webbed neck, Preauricular skin tag, Multicystic kidney dysplasia, Long philtrum, Cleft upper lip,...	ORPHA:709
Jacobsen Syndrome	Webbed neck, Multicystic kidney dysplasia, Eczematoid dermatitis, Long philtrum, Abnormal palate ...	ORPHA:2308
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Carious teeth, Natal tooth, Micrognathia, Abnormality of the kidney, High palate, Hypospadias, Pa...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Carious teeth, Natal tooth, Micrognathia, Abnormality of the kidney, High palate, Hypospadias, Pa...	ORPHA:353277
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	High, narrow palate, Atypical scarring of skin, Widened atrophic scar, Recurrent pneumonia, Decre...	ORPHA:1900
Peters-Plus Syndrome	Micrognathia, Short lingual frenulum, Hypospadias, Patent ductus arteriosus, Hypoplasia of the ma...	OMIM:261540
Igg4-Related Ophthalmic Disease	Sialadenitis, Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Colon ca...	ORPHA:449563
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve...	OMIM:301111
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Hyperechogenic kidneys, Renal cortical cysts, Renal insufficiency, Micrognathia, Redundant neck s...	ORPHA:397715
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Erythema, Smooth tongue, Atrophic scars, Milia, Distal lower limb amyotrophy, Oral mucosal bliste...	ORPHA:79396
Fibromuscular Dysplasia, Multifocal	Dental crowding, Soft, doughy skin, Atrophic scars, Striae distensae, Micrognathia, Malar flatten...	OMIM:619329
Bronchogenic Cyst	Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia	ORPHA:2357
Mesomelia-Synostoses Syndrome	Hydronephrosis, Micrognathia, Microretrognathia, Absent uvula	OMIM:600383
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Congenital diaphragmatic hernia, Postauricular pit, Hypospadias...	OMIM:312870
Charge Syndrome	Webbed neck, Preauricular skin tag, Hypoplasia of the zygomatic bone, Cleft upper lip, Delayed er...	ORPHA:138
Nodular Non-Suppurative Panniculitis	Erythema, Aplasia/Hypoplasia of the skin, Inflammatory abnormality of the eye, Subcutaneous nodul...	ORPHA:33577
Congenital Alveolar Capillary Dysplasia	Hydronephrosis, Patent ductus arteriosus	ORPHA:210122
Zttk Syndrome	Unilateral renal agenesis, Hypoplasia of the maxilla, Bifid uvula, Abnormality of the dentition, ...	OMIM:617140
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Abnormality of the ureter, Aplasia/Hypoplasia of the skin, Abnormality...	ORPHA:3339
Hand-Foot-Genital Syndrome	Pyelonephritis, Renal insufficiency, Ureteropelvic junction obstruction, Vesicoureteral reflux, C...	OMIM:140000
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Hypodontia, Natal tooth, Hypoplastic pilosebaceous units, Oligodontia	OMIM:601345
Acral Self-Healing Collodion Baby	Erythema, Palmoplantar scaling skin, Lack of skin elasticity	ORPHA:281127
Lysinuric Protein Intolerance	Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Oroticaciduria, Decreased glomerular filtratio...	ORPHA:470
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Enuresis, Carious teeth, Renal agenesis, Downturned corners of mouth, Grade III vesicoureteral re...	OMIM:619522
Noonan Syndrome 2	Webbed neck, Arthrogryposis multiplex congenita, Nevus, Long philtrum, Melanocytic nevus, Microgn...	OMIM:605275
Congenital Tracheomalacia	Bronchiectasis, Pneumonia, Cutis laxa, Patent ductus arteriosus	ORPHA:95430
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Cleft lip, Dilatation of the renal pelvis, Hydroureter, Retrognathia, Micrognathia, Dilatation of...	OMIM:265380
Digeorge Syndrome	High, narrow palate, Unilateral renal agenesis, Bifid uvula, Recurrent pneumonia, Renal dysplasia...	OMIM:188400
Tetrasomy 5P	Long philtrum, Preauricular pit, Micrognathia, Redundant neck skin, Aplasia/Hypoplasia of the abd...	ORPHA:3309
Schinzel-Giedion Midface Retraction Syndrome	Hydroureter, Ureteral stenosis, Malar flattening, Hydronephrosis, Micropenis, Macroglossia, Hypos...	OMIM:269150
Kabuki Syndrome 1	Abnormality of the dentition, Recurrent aspiration pneumonia, Recurrent otitis media, Preauricula...	OMIM:147920
Restrictive Dermopathy	Webbed neck, Skin erosion, Hypospadias, Natal tooth, Dermal translucency, Camptodactyly of finger...	ORPHA:1662
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Micropenis, Patent ductus arteriosus, Redundant neck skin	ORPHA:2519
Arteriosclerosis, Severe Juvenile	Gastric ulcer	OMIM:208060
Zygomycosis	Nephritis, Unusual skin infection, Hepatitis, Fasciitis, Renal insufficiency, Infectious encephal...	ORPHA:73263
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bifid uvula, Abnormality of the urinary system, Hydroureter, Retrognathia, Micrognathia, Malar fl...	ORPHA:2636
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Renal hypoplasia, Bifid uvula, Agenesis of permanent teeth, Pyelonephr...	OMIM:181270
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Erythema, Hypopigmented skin patches, Retrognathia, Abnormal dental en...	ORPHA:2556
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Bifid uvula, Recurrent pneumonia, Eczematoid dermatitis, Long philtrum, Few cafe-au-lait spots, M...	OMIM:620330
Mckusick-Kaufman Syndrome	Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula	OMIM:236700
Immunodeficiency 47	Cutis laxa	OMIM:300972
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Micropenis, Pelvic kid...	OMIM:258040
Neurofibroma	Intestinal bleeding, Enlargement of parotid gland, Multiple intestinal neurofibromatosis	ORPHA:252183
Menkes Disease	Atypical scarring of skin, Dry skin, Osteomyelitis, Micrognathia, Abnormal palate morphology, Hyp...	ORPHA:565
Hallermann-Streiff Syndrome	High, narrow palate, Narrow palate, Recurrent pneumonia, Natal tooth, Dental malocclusion, Select...	OMIM:234100
Listeriosis	Pneumonia, Acute kidney injury, Arteritis, Unusual skin infection, Osteomyelitis, Pyelonephritis,...	ORPHA:533
Neu-Laxova Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Bifid uvula, Skeletal ...	ORPHA:2671
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Long philtrum, Thick lower lip vermilion, Micrognathia, Hyperextensible skin, Narrow palate, Pate...	ORPHA:555877
Antisynthetase Syndrome	Skin rash, Lack of skin elasticity, Myositis, Keratoconjunctivitis sicca, Arthritis, Myocarditis,...	ORPHA:81
Cardiofaciocutaneous Syndrome 4	Multiple lentigines, Cafe-au-lait spot, Hyperextensible skin	OMIM:615280
Classical Ehlers-Danlos Syndrome	Cigarette-paper scars, Abnormality of the temporomandibular joint, Soft, doughy skin, Atrophic sc...	ORPHA:287
1P36 Deletion Syndrome	Long philtrum, Camptodactyly of finger, Narrow mouth, Myopathy, Hydronephrosis, Renal cyst, Macul...	ORPHA:1606
Osteogenesis Imperfecta, Type Vii	Hydronephrosis, Dentinogenesis imperfecta, Long philtrum	OMIM:610682
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Hydronephrosis, Urethral atresia	OMIM:271520
Dysosteosclerosis	Facial paralysis, Absent paranasal sinuses, Natal tooth, Delayed eruption of teeth, Dermal atroph...	OMIM:224300
Bone Dysplasia, Lethal Holmgren Type	Patent ductus arteriosus, Redundant neck skin	ORPHA:1842
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Gastritis	ORPHA:2575
Spinocerebellar Ataxia-Dysmorphism Syndrome	Downturned corners of mouth, Hyperextensible skin, Thick vermilion border	ORPHA:1185
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Dermal atrophy, Interstitial pneumonitis, Scali...	ORPHA:454831
Vater/Vacterl Association	Renal agenesis, Renal dysplasia, Vesicoureteral reflux, Ureteropelvic junction obstruction, Hydro...	OMIM:192350
Frank-Ter Haar Syndrome	Acne, Dental malocclusion, Micrognathia, Wide mouth, Gingival overgrowth, Redundant neck skin, Th...	OMIM:249420
Cockayne Syndrome B	Atypical scarring of skin, Carious teeth, Dental malocclusion, Dermal atrophy, Dry skin, Renal in...	OMIM:133540
Lacrimoauriculodentodigital Syndrome 1	Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Delayed eruption of primary teeth, Microdon...	OMIM:149730
Acrofacial Dysostosis, Cincinnati Type	Hypoplasia of the maxilla, Cleft lip, Nevus, Retrognathia, Recurrent otitis media, Median pseudoc...	OMIM:616462
Liver Disease, Severe Congenital	Aminoaciduria, Pneumonia, Eczematoid dermatitis, Recurrent urinary tract infections, Hyperechogen...	OMIM:619991
Sotos Syndrome	Ankle flexion contracture, Abnormality of the dentition, Chronic otitis media, Renal agenesis, Ag...	ORPHA:821
Noonan Syndrome 10	Webbed neck, Hyperextensible skin, Palmoplantar cutis laxa, Left ventricular hypertrophy, High pa...	OMIM:616564
Blau Syndrome	Abnormal salivary gland morphology, Xerostomia	ORPHA:90340
Dermatomyositis	Erythema, Skin ulcer, V-sign, Heliotrope rash, Dry skin, Inflammatory myopathy, Skin rash, Myosit...	ORPHA:221
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Skin erosion, Aplasia cutis congenita	OMIM:609638
Shprintzen-Goldberg Craniosynostosis Syndrome	Narrow palate, Joint contracture of the hand, Hypoplasia of the maxilla, Dental malocclusion, Mic...	OMIM:182212
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Webbed neck, Eczematoid dermatitis, Multiple lentigines, Hyperextensible skin, Duplicated collect...	OMIM:607721
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Abnormality of the dentition, Tooth malposition, Renal dysplasia, Long philtrum, Gingival overgro...	ORPHA:480880
Systemic Sclerosis	Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref...	ORPHA:90291
Mandibuloacral Dysplasia With Type A Lipodystrophy	Dental crowding, Elbow flexion contracture, Dermal atrophy, Micrognathia, Calcinosis, High palate...	OMIM:248370
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Lower limb muscle weakness, Parotitis, Pancreatitis, Sinusitis	ORPHA:449427
Hydrocephalus, Congenital, 3, With Brain Anomalies	Redundant neck skin	OMIM:617967
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Gastric ulcer	OMIM:161700
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Retrognathia, Aspiration pneumonia, Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis, Deep ...	ORPHA:438213
Lyme Disease	Dermal atrophy, Infectious encephalitis, Arthritis, Skin nodule, Uveitis	ORPHA:91546
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Gastric varix, Esophageal varix	OMIM:620367
Genitopatellar Syndrome	Multicystic kidney dysplasia, Delayed eruption of teeth, Micrognathia, Knee flexion contracture, ...	OMIM:606170
Knobloch Syndrome 1	Bifid ureter, Renal duplication, Hydronephrosis, Duplicated collecting system, Patent ductus arte...	OMIM:267750
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Long philtrum, Cleft upper lip, Micrognathia, Hydronephrosis, Renal cyst, Bifid...	ORPHA:93271
Alstrom Syndrome	Nephritis, Abnormality of the dentition, Recurrent pneumonia, Renal insufficiency, Otitis media, ...	OMIM:203800
Brittle Cornea Syndrome	Abnormality of the dentition, Hyperextensible skin, Camptodactyly, Cleft palate, Soft skin	ORPHA:90354
Mowat-Wilson Syndrome	Tooth malposition, Multicystic kidney dysplasia, Recurrent otitis media, Open mouth, Chordee, Eve...	ORPHA:2152
Ileal Neuroendocrine Tumor	Hydronephrosis	ORPHA:100078
Hydrolethalus Syndrome 1	Micrognathia, Hydronephrosis, Median cleft upper lip, Agenesis of the diaphragm, Hypospadias, Cle...	OMIM:236680
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst	OMIM:208500
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Peritonitis, Patent ductus ...	OMIM:619351
Oculoectodermal Syndrome	Preauricular skin tag, Bladder exstrophy, Epidermal nevus, Aplasia cutis congenita, Giant cell gr...	OMIM:600268
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Inflammation of the large intestine, Anoperineal fistula, Chronic gastritis, Esophagitis, Oral ul...	OMIM:301074
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Tooth malposition, Multicystic kidney dysplasia, Recurrent otitis media, Open mouth, Chordee, Uri...	ORPHA:261537
Leprechaunism	Nephrocalcinosis, Long penis, Skeletal muscle atrophy, Hyperextensible skin, Hypercalciuria, Thic...	ORPHA:508
Pelviscapular Dysplasia	Elbow flexion contracture, Redundant neck skin	ORPHA:93333
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydronephrosis, Muscular dystrophy, Micropenis, Multicystic kidney dysplasia	OMIM:615287
Dyskeratosis Congenita, X-Linked	Carious teeth, Oral leukoplakia, Horseshoe kidney, Dermal atrophy, Phimosis, Conjunctivitis, Hypo...	OMIM:305000
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Dermal translucency, Hyperextensible skin	OMIM:619120
Infantile Nephropathic Cystinosis	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys...	ORPHA:411629
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Gastroesophageal reflux, Intestinal malrotation, Esophagitis, Perineal fistula, Hia...	ORPHA:2538
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Tooth malposition, Multicystic kidney dysplasia, Recurrent otitis media, Open mouth, Chordee, Uri...	ORPHA:261552
Rothmund-Thomson Syndrome Type 2	Abnormality of the dentition, Erythema, Carious teeth, Delayed eruption of teeth, Tooth agenesis,...	ORPHA:221016
Weill-Marchesani Syndrome 2	Tooth malposition, Hypoplasia of the maxilla, Narrow palate, Elbow flexion contracture, Striae di...	OMIM:608328
Hoyeraal-Hreidarsson Syndrome	Dermal atrophy, Oral leukoplakia, Excessive wrinkled skin	ORPHA:3322
Costello Syndrome	Webbed neck, Nevus, Thick lower lip vermilion, Micrognathia, Renal insufficiency, Redundant neck ...	OMIM:218040
Cardiac Valvular Dysplasia 1	Hydronephrosis, Hydroureter, Urethral diverticulum	OMIM:212093
Charge Syndrome	Webbed neck, Renal hypoplasia, Renal agenesis, Cleft upper lip, Horseshoe kidney, Micrognathia, M...	OMIM:214800
Branchiooculofacial Syndrome	Dermoid cyst, Abnormality of the dentition, Atypical scarring of skin, Renal agenesis, Cleft uppe...	OMIM:113620
Shprintzen-Goldberg Syndrome	High, narrow palate, Hypoplasia of the maxilla, Retrognathia, Camptodactyly of finger, Micrognath...	ORPHA:2462
Hallermann-Streiff Syndrome	High, narrow palate, Abnormality of the dentition, Natal tooth, Dermal atrophy, Micrognathia, Nar...	ORPHA:2108
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Dermal translucency, Hyperextensible skin	OMIM:619115
Occipital Horn Syndrome	High, narrow palate, Atypical scarring of skin, Keloids, Hepatitis, Long philtrum, Recurrent urin...	ORPHA:198
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Gastritis, Gastroesophageal reflux, Xerostomia	ORPHA:809
Rothmund-Thomson Syndrome Type 1	Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal ...	ORPHA:221008
Otopalatodigital Syndrome, Type Ii	Elbow contracture, Micrognathia, Narrow mouth, Malar flattening, Hydronephrosis, Hypospadias, Cle...	OMIM:304120
Curry-Jones Syndrome	Aplasia/Hypoplasia of the skin, Hypopigmented skin patches	ORPHA:1553
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Bifid uvula, Atrophic scars, Micrognathia, Narrow mouth, Hyperextensible skin, Flexion contractur...	OMIM:130070
Yunis-Varon Syndrome	High, narrow palate, Gingival recession, Broad secondary alveolar ridge, Micrognathia, Renal arte...	ORPHA:3472
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Dermal atrophy, Agenesis of permanent teeth, Mi...	OMIM:268400
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Chordee, Micropenis, Hypospadias, Asymmetric, linear skin defect...	OMIM:309801
Johanson-Blizzard Syndrome	Aplasia cutis congenita of scalp, Downturned corners of mouth, Long philtrum, Agenesis of permane...	OMIM:243800
Congenital Tracheal Stenosis	Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr...	ORPHA:141127
Xeroderma Pigmentosum, Complementation Group A	Erythematous papule, Keratitis, Verrucous epidermal nevus, Dermal atrophy, Conjunctivitis, Hyperm...	OMIM:278700
Autosomal Recessive Faciodigitogenital Syndrome	Long philtrum, Open bite, Micrognathia, Hyperextensible skin, Deep philtrum, Everted lower lip ve...	ORPHA:1974
Acromesomelic Dysplasia 1	Redundant skin on fingers	OMIM:602875
Dyskeratosis Congenita, Autosomal Dominant 1	Carious teeth, Oral leukoplakia, Dermal atrophy, Interstitial pneumonitis, Premature loss of teeth	OMIM:127550
Metachromatic Leukodystrophy	Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Neopl...	ORPHA:512
Wolfram Syndrome	Gastrointestinal hemorrhage, Gastric ulcer	ORPHA:3463
Adams-Oliver Syndrome	Aplasia/Hypoplasia of the skin, Aplasia cutis congenita	ORPHA:974
Malignant Atrophic Papulosis	Arteritis, Dermal atrophy, Abnormality of the lower urinary tract, Peritonitis, Papule	ORPHA:679
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Long philtrum, Soft, doughy skin, Micrognathia, Malar flattening, Hyperextensible skin, Long uppe...	OMIM:271640
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Enlargement of parotid gland, Oral ulcer	ORPHA:50918
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Redundant skin	OMIM:250220
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Dermal atrophy, Skin rash, Dry skin	ORPHA:220295
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Retrognathia, Hypermelanotic macule, Delayed eruption of teeth, Impacted tooth, ...	ORPHA:740
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dilatation of the renal pelvis, Hyperechogenic kidneys, Medullary nephrocalcinosis, Dark urine, R...	OMIM:619534
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Ileus, Recurrent gastroenteritis, Abnormal intestine morphology, Gastritis, Colitis	ORPHA:37042
Ehlers-Danlos Syndrome, Vascular Type	Periodontitis, Cigarette-paper scars, Cystocele, Molluscoid pseudotumors, Hyperextensible skin, E...	OMIM:130050
Linear Skin Defects With Multiple Congenital Anomalies 3	Asymmetric, linear skin defects, Delayed eruption of primary teeth	OMIM:300952
Sarcoidosis	Abnormality of the gastrointestinal tract, Enlarged lacrimal glands, Enlargement of parotid gland...	ORPHA:797
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cholelithiasis, Gastric ulcer, Esophageal varix	ORPHA:2072
Xeroderma Pigmentosum, Variant Type	Conjunctivitis, Dermal atrophy, Keratitis	OMIM:278750
Xeroderma Pigmentosum, Complementation Group E	Conjunctivitis, Dermal atrophy, Keratitis	OMIM:278740
Syndromic Diarrhea	Villous atrophy, Hypoplasia of the thymus, Gastritis, Hepatoblastoma, Colitis	ORPHA:84064
Xeroderma Pigmentosum, Complementation Group C	Conjunctivitis, Dermal atrophy, Keratitis	OMIM:278720
Down Syndrome	Protruding tongue, Malar flattening, Redundant neck skin, Macroglossia, Patent ductus arteriosus	OMIM:190685
Ethylene Glycol Poisoning	Gastritis	ORPHA:31826
Baller-Gerold Syndrome	Bifid uvula, Erythema, Dermal atrophy, Micrognathia, Narrow mouth, Long upper lip, Abnormality of...	OMIM:218600
Immunodeficiency 82 With Systemic Inflammation	Anoperineal fistula, Villous atrophy, Oral ulcer, Crohn's disease, Gastritis, Colitis, Duodenal u...	OMIM:619381
Autoimmune Lymphoproliferative Syndrome	Recurrent aphthous stomatitis, Gastritis, Neoplasm of the tongue, Colitis, Hepatocellular carcinoma	ORPHA:3261
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Redundant neck skin, Patent ductus arteriosus, Joint contracture	OMIM:618164
Yunis-Varon Syndrome	Hypoplastic facial bones, Aspiration pneumonia, Micrognathia, Premature loss of primary teeth, Re...	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

X-ray

X-ray

Anti-nuclear antibody assay

DSS Histology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Dcn mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data