Gene Summary

Name:
laminin, alpha 5
Synonyms:
N/A

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Lama5tm1b(KOMP)Wtsi HOM   Early adult 0.00
enlarged heart Lama5tm1b(KOMP)Wtsi HET Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote 50% (1 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 3)
Brain N/A homozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 3)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (3 of 3)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 3)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote 33.33% (1 of 3)
Footplate N/A homozygote 50% (1 of 2)
Forebrain N/A heterozygote 0.0% (0 of 3)
Forebrain N/A homozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 3)
Forelimb N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote 33.33% (1 of 3)
Handplate N/A homozygote 50% (1 of 2)
Head N/A heterozygote 66.67% (2 of 3)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote Not available
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 3)
Hindbrain N/A homozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 3)
Hindlimb N/A homozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 3)
Liver N/A homozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 3)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 3)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 3)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 3)
Midbrain N/A homozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 33.33% (1 of 3)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 0.0% (0 of 3)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 0.0% (0 of 3)
Tail somite N/A homozygote 50% (1 of 2)
Tail N/A heterozygote 66.67% (2 of 3)
Tail N/A homozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.31% (6 of 457)
ear 0.22% (1 of 445)
embryo 0.44% (2 of 457)
eye 0.22% (1 of 461)
footplate 0.22% (1 of 462)
forebrain 0.22% (1 of 452)
forelimb 0.22% (1 of 459)
handplate 0.21% (1 of 468)
head 1.09% (5 of 460)
heart 0.22% (1 of 462)
hindbrain 0.87% (4 of 459)
hindlimb 0.22% (1 of 452)
liver 0.22% (1 of 449)
lung 0.22% (1 of 451)
mandibular process 0.22% (1 of 459)
maxillary process 0.22% (1 of 452)
midbrain 0.22% (1 of 464)
oral cavity 0.22% (1 of 465)
skin 0.22% (1 of 454)
tail 0.22% (1 of 460)
tail somite group 0.22% (1 of 455)

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

10 Images

Echo

M-Mode Images

32 Images

Adult LacZ

LacZ Images Wholemount

16 Images

MicroCT E14.5-E15.5

Embryo reconstruction

4 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

MicroCT E18.5

Embryo reconstruction

3 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Lama5 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.

The table below shows human diseases associated to Lama5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049

The table below shows human diseases predicted to be associated to Lama5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Azotemia, Familial
Azotemia OMIM:109160
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Hyperechogenic kidneys, Stage 5 chronic kidney disease OMIM:617610
Hematuria, Benign Familial
Thin glomerular basement membrane, Hematuria OMIM:141200
Hanac Syndrome
Renal insufficiency, Hematuria, Multiple renal cysts ORPHA:73229
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... OMIM:613092
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Micro... OMIM:601894
Lipoprotein Glomerulopathy
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria OMIM:611771
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... OMIM:616818
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... OMIM:618176
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:613944
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... OMIM:137950
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... OMIM:310468
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Ethanolaminosis
Cardiomegaly OMIM:227150
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria ORPHA:2613
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Amelogenesis Imperfecta, Type Iiib
Enamel hypomineralization, Amelogenesis imperfecta OMIM:617607
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel OMIM:613211
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbumine... OMIM:614196
Cryofibrinogenemia, Familial Primary
Hematuria, Transient nephrotic syndrome OMIM:123540
C3 Glomerulopathy 3
Renal insufficiency, Glomerulonephritis, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Focal Segmental Glomerulosclerosis 6
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... OMIM:614131
Renal Failure, Progressive, With Hypertension
Nephritis, Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease OMIM:161900
Uridine-Cytidineuria
Elevated urinary cytidine OMIM:618477
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Amelogenesis Imperfecta, Type Ij
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta OMIM:617297
Hydroxyprolinemia
Microscopic hematuria OMIM:237000
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:301028
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Complement Factor H Deficiency
Thickened glomerular basement membrane, Chronic kidney disease, Hematuria, Glomerular subendothel... OMIM:609814
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... OMIM:618178
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors OMIM:114700
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... OMIM:614817
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease OMIM:161950
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndrome, Hematuria, Focal segmental glo... OMIM:616892
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Vesicourete... OMIM:601331
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Nephrotic Syndrome, Type 23
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... OMIM:619201
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... OMIM:308990
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Medullary Sponge Kidney
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria ORPHA:1309
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Genitopalatocardiac Syndrome
Double outlet right ventricle, Hypospadias, Ventricular septal defect, Renal cyst, Transposition ... OMIM:231060
Nephronophthisis 20
Renal cyst, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney disease OMIM:617271
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... OMIM:256020
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... OMIM:603965
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Proteinuria, Chronic Benign
Renal insufficiency, Albuminuria, Proteinuria OMIM:618884
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Pr... ORPHA:54370
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Congenital Primary Megaureter
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... ORPHA:617
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Amelogenesis Imperfecta, Type Ia
Taurodontia, Amelogenesis imperfecta, Generalized microdontia OMIM:104530
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chr... OMIM:615573
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Heterotaxy, Atrioventricular canal defe... OMIM:616749
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... OMIM:174000
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinu... OMIM:600995
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Abnormal tubulointerstitial morphology, Chronic kidney disease, Nephropathy OMIM:602114
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Thickened glomerular basement membrane, Acute kidney injury, Proteinuria, Glo... OMIM:615008
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Alveolar pr... ORPHA:2972
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Proteinuria ORPHA:2134
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... OMIM:618386
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Abnormal pinna morphology, Syndactyly, Hypoplasia of the ulna, Mesomelia, Ventricular septal defe... OMIM:228940
Diarrhea 9
Villous atrophy OMIM:618168
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Atrial septal defect, Brachydactyly, Short thumb, Limited elbow extension... ORPHA:401935
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Patent ductus arteriosus, Renal i... OMIM:615382
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... OMIM:256100
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth OMIM:183300
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia, ... OMIM:601186
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Pu... ORPHA:3384
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits ORPHA:69063
Hereditary Renal Hypouricemia
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... ORPHA:94088
Fibronectin Glomerulopathy
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, G... ORPHA:84090
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:613913
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Protruding ear, Renal hypoplasia/aplasia, Abnormal hip bone morphology, Multiple renal cysts, Tet... ORPHA:1166
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... OMIM:618913
Amelogenesis Imperfecta, Type Ih
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... OMIM:616221
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal cardiac septum morphology, Congenital malformation of the great arteries, Upper limb pho... ORPHA:294975
Angioma, Hereditary Neurocutaneous
Hematuria OMIM:106070
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency, Hyperuricemia OMIM:609886
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Bardet-Biedl Syndrome 10
Abnormality of the kidney, Renal cyst, Renal insufficiency OMIM:615987
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Nephronophthisis 4
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... OMIM:606966
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Diabetic Embryopathy
Aplasia/Hypoplasia affecting the eye, Hydrocephalus, Renal hypoplasia/aplasia, Cryptorchidism, Mi... ORPHA:1926
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hematuria, Proteinuria, Polycystic ... OMIM:608709
Senior-Loken Syndrome 1
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... OMIM:266900
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Coarctation of aorta, Broad hallux, Broad thumb, Patent ductus arteriosus,... OMIM:612474
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Overlapping toe, Atrial septal defect, Tetralogy of Fallot, Ventricular septal... OMIM:617478
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Nephronophthisis 3
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... OMIM:604387
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Nephrotic Syndrome, Type 22
Nephrotic syndrome, Nephrotic range proteinuria, Thickened glomerular basement membrane, Podocyte... OMIM:619155
Cystinuria
Nephrolithiasis, Argininuria, Cystinuria, Recurrent urinary tract infections, Hyperlysinuria, Orn... OMIM:220100
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Mesomelic/rhizomelic limb shortening, Ven... ORPHA:1354
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta OMIM:104510
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Taurodontism
Taurodontia OMIM:272700
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Urethral stenosis, Transp... ORPHA:1727
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short distal phalanx of finger, Renal hypoplasia/aplasia, Renal agenesis, Bilateral single transv... ORPHA:2516
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Nephrotic Syndrome, Type 3
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... OMIM:610725
Pulmonary Atresia With Intact Ventricular Septum
Hypoplastic right heart, Pulmonary artery atresia OMIM:265150
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... OMIM:618349
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Conotruncal Heart Malformations
Double outlet right ventricle, Postaxial polydactyly, Coarctation of aorta, Broad hallux, Complet... OMIM:217095
Deafness And Myopia
Hematuria, Proteinuria OMIM:221200
Thymic Aplasia With Fetal Death
Abnormality of the endocrine system, Renal agenesis, Ureteral agenesis, Pulmonary hypoplasia, Tru... OMIM:274210
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Elevated ... ORPHA:567544
Xanthinuria, Type Ii
Nephrolithiasis, Increased circulating hypoxanthine concentration, Xanthinuria, Hyperxanthinemia,... OMIM:603592
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Maternal diabetes, Patent ductus arteriosus, Pulmonary arter... ORPHA:1208
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Double outlet right ventricle, Overlapping toe, Atrial septal defect, Cryptorchidism, Hypospadias... OMIM:618316
Hyperoxaluria, Primary, Type Ii
Calcium oxalate nephrolithiasis, Hematuria, Renal insufficiency, Hyperoxaluria, Nephrocalcinosis OMIM:260000
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Unilateral renal agenesis, Ventricular septal defect, Hydranencep... OMIM:601355
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Tubulointerstitial... OMIM:263200
Amyloidosis, Familial Visceral
Nephrotic syndrome, Nephropathy, Hematuria, Proteinuria OMIM:105200
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Renal insu... OMIM:614723
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis OMIM:618270
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Stage 5 chronic... OMIM:603278
Nephronophthisis 7
Renal tubular atrophy, Stage 5 chronic kidney disease, Nephronophthisis OMIM:611498
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612925
Gombo Syndrome
Brachydactyly, Clinodactyly, Delayed puberty, Microphthalmia, Radial deviation of finger, Abnorma... OMIM:233270
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy OMIM:613217
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Atrial septal defect, Postaxial polydactyly, Abnormally large globe, Ventricular s... OMIM:603387
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... ORPHA:477781
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Teeth, Supernumerary
Supernumerary tooth, Mesiodens OMIM:187100
Dent Disease
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... ORPHA:1652
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Hematuria OMIM:314000
Kallmann Syndrome-Heart Disease Syndrome
Sensorineural hearing impairment, Double outlet right ventricle, Micropenis, Renal agenesis, Hypo... ORPHA:2326
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Nephronophthisis 13
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... OMIM:614377
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... OMIM:617805
Phaver Syndrome
Myelomeningocele, Conductive hearing impairment, Overfolded helix, Broad hallux phalanx, Camptoda... ORPHA:2876
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillar PAS-positive secretory granules, Microvillus inclusions OMIM:619445
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth ORPHA:2222
Primary Hyperoxaluria Type 3
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... ORPHA:93600
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612922
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hyperalaninemia, Stage 5 chronic kidney disease OMIM:618250
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... OMIM:612926
Nephrotic Syndrome, Type 8
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbumin... OMIM:615244
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Renal-Hepatic-Pancreatic Dysplasia 2
Talipes equinovarus, Aortic valve stenosis, Pulmonic stenosis, Femoral bowing, Cystic renal dyspl... OMIM:615415
Ciliary Dyskinesia, Primary, 37
Goiter, Situs inversus totalis, Dextrocardia, Hypothyroidism, Bronchiectasis, Hearing impairment,... OMIM:617577
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs in... OMIM:618300
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Heart And Brain Malformation Syndrome
Hand clenching, Attached earlobe, Camptodactyly of finger, Ventricular septal defect, Microphthal... OMIM:616920
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... OMIM:619702
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Howell-J... OMIM:613759
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Eruption failure, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Multiple non-erupting... OMIM:273050
Bardet-Biedl Syndrome 16
Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Renal insufficiency OMIM:615993
Adams-Oliver Syndrome 6
Splenomegaly, Brachydactyly, Syndactyly, Ventricular septal defect, Renal hypoplasia, Foot oligod... OMIM:616589
Nephrotic Syndrome, Type 4
Nephrotic syndrome, Diffuse mesangial sclerosis, Nephroblastoma, Focal segmental glomeruloscleros... OMIM:256370
Seckel Syndrome 9
Protruding ear, Talipes equinovarus, Atrial septal defect, Recurrent urinary tract infections, Pu... OMIM:616777
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Abnormal pinna morphology, Hypoplastic left heart, Pulmonic stenos... OMIM:618164
Feingold Syndrome Type 1
Tricuspid atresia, Tricuspid stenosis, Horseshoe kidney, Abnormal heart morphology, Clinodactyly ... ORPHA:391641
Acrocardiofacial Syndrome
Mitral stenosis, Atrial septal defect, Finger syndactyly, Hypoplasia of penis, Split foot, Hypert... ORPHA:2008
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis OMIM:614650
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Macroscopic hematuria, Recurrent urinary tract ... ORPHA:976
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
1Q21.1 Microdeletion Syndrome
Sensorineural hearing impairment, Abnormal cardiac septum morphology, Hydrocephalus, Clinodactyly... ORPHA:250989
Diaphragmatic Hernia 4, With Cardiovascular Defects
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Cryptorchidism, Optic ne... OMIM:620025
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Hepatomegaly, Elevated alpha-fetoprotein, Recurrent urinary tract infections, Multip... OMIM:613095
Hadziselimovic Syndrome
Atrial septal defect, Tetralogy of Fallot, Pulmonary artery atresia, Ventricular septal defect, R... OMIM:612946
Stankiewicz-Isidor Syndrome
Low-set ears, 2-3 toe syndactyly, Cryptorchidism, Absent thumb, Micropenis, Hypospadias, Ureteral... OMIM:617516
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, ... ORPHA:839
Congenital Rubella Syndrome
Sensorineural hearing impairment, Atrial septal defect, Splenomegaly, Thrombocytopenia, Ventricul... ORPHA:290
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... OMIM:619902
Pagod Syndrome
Renal hypoplasia/aplasia, Hypoplastic left heart, Multicystic kidney dysplasia, Abnormality of th... ORPHA:991
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... ORPHA:93108
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617006
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoparathyroidism, Abnormality of cartilage of external ear, Hypo... ORPHA:3426
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Talipes equinovarus, Hypoplastic left heart... OMIM:618845
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
Alport Syndrome
Nephrotic syndrome, Renal glomerular foam cells, Mesangial hypercellularity, Nephritis, Thickenin... ORPHA:63
Cardiac-Urogenital Syndrome
Enlarged kidney, Ventricular septal defect, Pulmonary hypoplasia, Patent urachus, Unilateral cryp... OMIM:618280
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Hematuria, Proteinuria, Abnormal renal physiology OMIM:123550
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... OMIM:611555
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Bladder Diverticulum
Dysuria, Solitary bladder diverticulum, Recurrent urinary tract infections, Hematuria, Urinary he... OMIM:109820
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Renal insuff... OMIM:162000
Trisomy 13
Abnormal antihelix morphology, Sensorineural hearing impairment, Ectrodactyly, Abnormal helix mor... ORPHA:3378
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... OMIM:254900
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly OMIM:614859
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... ORPHA:49042
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Nephronophthisis
Renal insufficiency ORPHA:655
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Umbilical hernia, Abnormal hear... ORPHA:1686
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Hereditary Amyloidosis With Primary Renal Involvement
Nephrotic syndrome, Hepatomegaly, Renal tubular atrophy, Decreased glomerular filtration rate, Re... ORPHA:85450
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Holoprosencephaly, Anencephaly, Low-set, posteriorly rotated ears, Tetralogy of Fa... ORPHA:1908
Hyperparathyroidism 2 With Jaw Tumors
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... OMIM:145001
Mosaic Trisomy 1
Abnormal pinna morphology, 2-3 finger syndactyly, Finger clinodactyly, Single transverse palmar c... ORPHA:1692
Bardet-Biedl Syndrome 18
Renal insufficiency OMIM:615995
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... OMIM:203780
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti... OMIM:602522
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria OMIM:120433
Small Cell Carcinoma Of The Bladder
Dysuria, Recurrent urinary tract infections, Hematuria ORPHA:284400
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Abdominal situs inversus, Situs inv... OMIM:605376
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Atrial septal defect, Aplasia of the middle phal... OMIM:615297
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Multicystic kidney dysplasia, Nephropathy, Renal insufficiency ORPHA:1909
Recombinant Chromosome 8 Syndrome
Double outlet right ventricle, Low-set ears, Clinodactyly of the 5th finger, Atrial septal defect... OMIM:179613
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Aortic valve stenosis, Hypopl... OMIM:220210
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Crystalluria, Hyperuricosuria, Stage 4 chronic kidney disease, Acute kidney injury, Hyperuricemia... ORPHA:411536
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Nephronophthisis-Like Nephropathy 2
Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal insuffici... OMIM:619468
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Protruding ear, Microtia, Micropenis, Hypogonadotropic hypogonadis... OMIM:147770
Retinitis Pigmentosa 59
Hepatomegaly, Renal insufficiency, Micropenis OMIM:613861
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, St... OMIM:618594
Microphthalmia, Syndromic 12
Anophthalmia, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia, Microphth... OMIM:615524
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Humero-Radio-Ulnar Synostosis
Elbow ankylosis, Abnormality of the upper urinary tract, Abnormality of the ureter, Radioulnar sy... ORPHA:3266
Lesch-Nyhan Syndrome
Renal insufficiency, Hematuria ORPHA:510
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Clinodactyly of the 5th finger, Pseudocoarctation of the aorta, Abnormal h... ORPHA:228190
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, Thrombocytopenia, Ventricular septal defect, Rocker bottom foot, Toe clinodactyly,... ORPHA:163979
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the humerus, Horseshoe kidney, Microphthalmia, Elbow dislocation, Abnormality of f... ORPHA:2538
Craniofacioskeletal Syndrome
Clinodactyly of the 5th finger, Atrial septal defect, Cryptorchidism, Microtia, Small hand, Hypos... OMIM:300712
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Proteinuria OMIM:245900
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Renal insufficiency OMIM:613779
Dent Disease 2
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... OMIM:300555
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria OMIM:160010
Medullary cystic kidney disease 2
Renal tubular atrophy, Multiple renal cysts, Tubulointerstitial nephritis, Multiple small medulla... OMIM:603860
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Absent thumb, Hand oligodactyly, Hypopl... OMIM:156810
Glycogen Storage Disease X
Renal insufficiency, Elevated circulating creatine kinase concentration, Myoglobinuria OMIM:261670
Emanuel Syndrome
Low-set ears, Atrial septal defect, Aortic valve stenosis, Cryptorchidism, Micropenis, Pulmonic s... OMIM:609029
Glycogen Storage Disease Xi
Renal insufficiency, Increased serum pyruvate, Elevated circulating creatine kinase concentration... OMIM:612933
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Nephroblastoma, Proteinuria ORPHA:220
Cystinuria
Nephrolithiasis, Hematuria, Renal insufficiency ORPHA:214
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Nephrotic syndrome, Renal insufficiency, Diffuse mesangial sclerosis OMIM:249660
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Velocardiofacial Syndrome
Unilateral primary pulmonary dysgenesis, Hypoparathyroidism, Abnormality of the hand, Double aort... OMIM:192430
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrocele testis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Over... OMIM:601927
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, Protruding ear, 2-3 toe syndactyly, Atrial septal defect, Cryptorc... ORPHA:3304
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis OMIM:263000
Fibromatosis, Gingival, With Distinctive Facies
High palate, Persistence of primary teeth, Everted lower lip vermilion, Gingival fibromatosis, Ir... OMIM:228560
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Renal insufficiency, Renal cyst, Nephropathy, Hematuria OMIM:611773
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Fechtner syndrome
Proteinuria, Nephritis, Hematuria, Stage 5 chronic kidney disease OMIM:153640
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Clinodactyly of the 5th finger, Bicuspid aortic valve, Pseudocoarctation of the aorta,... OMIM:604381
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Coach Syndrome 3
Renal interstitial inflammation, Renal tubular atrophy, Nephronophthisis, Renal interstitial fibr... OMIM:619113
Congenital Anomalies Of Kidney And Urinary Tract 2
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... OMIM:143400
Nephrosialidosis
Nephrotic syndrome, Nephropathy, Renal insufficiency OMIM:256150
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Dextrocardia, Double outlet right ventricle, Bronch... OMIM:618254
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Dextrocardia
Hydrocephalus, Congenital malformation of the great arteries, Abnormality of the ureter, Congenit... ORPHA:1666
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad phalanx, Pectus excavatum, Atrioventricular canal defect, Broad hallux, Ventricular septal ... ORPHA:508498
Heterotaxy, Visceral, 1, X-Linked
Hydrocephalus, Atrioventricular canal defect, Congenital hip dislocation, Enlarged kidney, Ventri... OMIM:306955
Alagille Syndrome 2
Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insufficiency, Proteinuria OMIM:610205
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Nephrolithiasis, Nephropathy, Hematuria ORPHA:2196
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Immunodeficiency 31C
Villous atrophy, Abnormal intestine morphology OMIM:614162
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Floating-Harbor Syndrome
Broad fingertip, Humeral pseudarthrosis, Congenital posterior urethral valve, Stage 5 chronic kid... ORPHA:2044
Floating-Harbor Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Short 1st metacarpal, Broad fingertip, Umbili... OMIM:136140
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology ORPHA:3196
Meckel Syndrome, Type 8
Talipes equinovarus, Encephalocele, Anophthalmia, Polydactyly, Hyperechogenic kidneys, Postaxial ... OMIM:613885
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Elevated circulating long chain fatty acid conc... ORPHA:228302
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Catel-Manzke Syndrome
Abnormal pinna morphology, Clinodactyly of the 5th finger, Talipes equinovarus, Hyperphalangy of ... OMIM:616145
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Hydrocephalus, 2-3 toe syndactyly, Atrial septal defect, Cryptorchidism, Holop... OMIM:264480
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Microphthalmia, Anophthalmia, Macrotia OMIM:221950
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Everted lower lip vermilion, Delayed eruption of teeth, Gingiva... ORPHA:2025
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Proteinuria, Renal insufficiency, Hypercalcemia ORPHA:2668
Trisomy 1Q
Hydrocephalus, Cryptorchidism, Congenital megaureter, Arachnodactyly, Camptodactyly of finger, Mu... ORPHA:261344
Renal Tubular Dysgenesis
Bilateral single transverse palmar creases, Nephropathy, Multiple renal cysts, Tetralogy of Fallo... ORPHA:3033
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis, Renal cyst, Hyperuricemia OMIM:617056
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Ventricular septal defect, Alveolar capillary dysplasia, Pulmonary... OMIM:265380
Trichohepatoenteric Syndrome 2
Colitis, Woolly hair, Sparse hair, Brittle hair, Trichorrhexis nodosa, Villous atrophy, Uncombabl... OMIM:614602
Lcat Deficiency
Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI concentration, Decr... ORPHA:650
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Abn... ORPHA:567548
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Elevated circulat... ORPHA:157
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Left ventricular noncompaction, Coarctation of aorta, Pulmonary artery hyp... OMIM:613426
Netherton Syndrome
Sparse scalp hair, Intestinal atresia, Sparse eyebrow, Brittle hair, Brittle scalp hair, Villous ... OMIM:256500
Jejunal Atresia
Jejunal atresia OMIM:243600
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Rocker bottom foot, Large earlobe, Double outlet right ventricle, Tali... OMIM:301056
Genetic Steroid-Resistant Nephrotic Syndrome
Chronic kidney disease, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Hypoalbu... ORPHA:656
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Acute kidney injury, Hematuria, Proteinuria ORPHA:54057
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Nephrotic syndrome, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... OMIM:104200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hyperammonemia, E... ORPHA:228308
Nephrotic Syndrome, Type 1
Congenital nephrotic syndrome, Hyperlipidemia, Renal tubular atrophy, Hypoproteinemia, Diffuse me... OMIM:256300
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy ORPHA:375
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Elevated circulating creatinine con... ORPHA:79233
Hypodontia-Dysplasia Of Nails Syndrome
Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet... ORPHA:2228
Nephrotic Syndrome, Type 11
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... OMIM:616730
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthinuria, Hematuria, Acute kidney injury, Hy... ORPHA:3467
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Cryptorchidism, Micropenis, Hypospadias, Coarctation of aorta, Tetralogy... OMIM:600460
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Preeclampsia
Chronic kidney disease, Abnormality of the kidney, Elevated circulating creatinine concentration,... ORPHA:275555
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Conjugated hyperbilirubinemia, Proteinuria, Incre... OMIM:620010
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Keutel Syndrome
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Calcification of the auricu... OMIM:245150
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Acitretin/Etretinate Embryopathy
Microtia, Atrioventricular canal defect, Cupped ear, Hypoplasia of the thymus, Abnormality of the... ORPHA:40366
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Hepatomegaly, Glycosuria, Elevated circulating glutaric acid concentration,... OMIM:231680
Urofacial Syndrome 2
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... OMIM:615112
Hyperuricemia, Hprt-Related
Nephrolithiasis, Hyperuricosuria, Renal insufficiency, Hyperuricemia OMIM:300323
Adams-Oliver Syndrome
Short distal phalanx of finger, Absent hand, Hydrocephalus, Arteriovenous malformation, Abnormal ... ORPHA:974
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Renal insufficiency, Increased serum pyruvate, Elevated circulating creatine kinase concentration... ORPHA:2364
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Hinman Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... ORPHA:84085
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot, Split foot OMIM:601348
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Sensorineural hearing impairment, Ventricular septal defect, Peripheral pulmonary artery stenosis... OMIM:617992
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... ORPHA:1028
Cayler Cardiofacial Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Fibular Hemimelia
Arthralgia of the hip, Thrombocytopenia, Abnormality of fibula morphology, Genu valgum, Hip sublu... ORPHA:93323
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst OMIM:138790
Primary Ciliary Dyskinesia
Double outlet right ventricle, Conductive hearing impairment, Hydrocephalus, Anomalous pulmonary ... ORPHA:244
Czeizel-Losonci Syndrome
Hydrocephalus, 2-3 finger syndactyly, Single transverse palmar crease, Pulmonary hypoplasia, 1-2 ... ORPHA:2437
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect... OMIM:617912
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Atrial septal defect, Pulmonic stenosis, Total absence of the perica... OMIM:600001
16P13.11 Microduplication Syndrome
Pectus excavatum, Atrial septal defect, Arachnodactyly, Coarctation of aorta, Tetralogy of Fallot... ORPHA:261243
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Symphalangism With Multiple Anomalies Of Hands And Feet
Conductive hearing impairment, Symphalangism affecting the phalanges of the toes, Symphalangism o... ORPHA:3246
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Abnormal pinna morphology, 2-3 toe syndactyly, Talipes equinovarus... ORPHA:477817
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Hypouricemia, Renal, 1
Hyperuricosuria, Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid ... OMIM:220150
Emanuel Syndrome
Hydrocephalus, Severe hearing impairment, Atrial septal defect, Aortic valve stenosis, Micropenis... ORPHA:96170
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal circulating lipid concentration ORPHA:225
Acrorenal Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Abnormal renal morphology ORPHA:971
Crossed Polysyndactyly
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Finger syndactyly ORPHA:2935
Charge Syndrome
Abnormal cardiac septum morphology, Overfolded helix, Horseshoe kidney, Microphthalmia, Hypoplasi... ORPHA:138
Lethal Congenital Contracture Syndrome 10
Talipes equinovarus, Adducted thumb, Hypoplasia of the thymus, Overlapping fingers, Ventricular s... OMIM:617022
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... ORPHA:2791
Polydactyly, Preaxial Ii
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Secondary Short Bowel Syndrome
Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dysmotility, Vill... ORPHA:95427
Charge Syndrome
Aplasia of the semicircular canal, Down-sloping shoulders, Hypoplasia of the ulna, Ventricular se... OMIM:214800
Distal 22Q11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Short distal phalanx of finger, Clinodactyly of the 5th finger,... ORPHA:261330
Fanconi Renotubular Syndrome 1