Gene Summary

Name:
polycystin 1, transient receptor potential channel interacting
Synonyms:
polycystin-1,  PC-1,  PC1

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
increased neutrophil cell number Pkd1tm1b(EUCOMM)Hmgu HET Early adult 4.02×10-06
decreased erythrocyte cell number Pkd1tm1b(EUCOMM)Hmgu HET Early adult 1.27×10-05
decreased hematocrit Pkd1tm1b(EUCOMM)Hmgu HET   Early adult 3.84×10-06
decreased circulating alkaline phosphatase level Pkd1tm1b(EUCOMM)Hmgu HET Early adult 3.63×10-08
decreased circulating total protein level Pkd1tm1b(EUCOMM)Hmgu HET Early adult 9.14×10-08
preweaning lethality, complete penetrance Pkd1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00

Download data as:  TSV  XLS

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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)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 50% (1 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  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)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  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)
Brown adipose tissue 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)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Thymus 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 100% (2 of 2)
Brain N/A homozygote 100% (2 of 2)
Ear N/A heterozygote 50% (1 of 2)
Ear N/A homozygote 50% (1 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Footplate N/A homozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forebrain N/A homozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote 100% (2 of 2)
Handplate N/A heterozygote 100% (2 of 2)
Handplate N/A homozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote 100% (2 of 2)
Liver N/A heterozygote 50% (1 of 2)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 50% (1 of 2)
Lung N/A homozygote 50% (1 of 2)
Mandibular process N/A heterozygote 50% (1 of 2)
Mandibular process N/A homozygote 50% (1 of 2)
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote 50% (1 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote 100% (2 of 2)
Oral cavity N/A heterozygote 50% (1 of 2)
Oral cavity N/A homozygote 50% (1 of 2)
Skin N/A heterozygote 50% (1 of 2)
Skin N/A homozygote 50% (1 of 2)
Tail somite N/A heterozygote 100% (2 of 2)
Tail somite N/A homozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.71% (4 of 563)
aorta 0.18% (1 of 567)
bone 0.0%
brain 0.71% (4 of 563)
brainstem 0.36% (2 of 554)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 565)
cerebellum 0.54% (3 of 557)
cerebral cortex 0.18% (1 of 561)
esophagus 1.54% (6 of 390)
eye 0.0%
gall bladder 0.0%
heart 0.36% (2 of 557)
hippocampus 0.54% (3 of 558)
hypothalamus 0.36% (2 of 559)
kidney 3.76% (21 of 558)
large intestine 1.63% (9 of 553)
liver 0.0%
lower urinary tract 0.18% (1 of 548)
lung 0.36% (2 of 554)
lymph node 0.18% (1 of 559)
mammary gland 0.0%
olfactory lobe 0.36% (2 of 563)
oral epithelium 0.0%
ovary 0.18% (1 of 556)
oviduct 0.0%
pancreas 0.91% (5 of 550)
parathyroid gland 0.18% (1 of 543)
peripheral nervous system 0.36% (2 of 559)
peyers patch 0.0%
pituitary gland 0.18% (1 of 546)
prostate gland 1.97% (11 of 558)
skeletal muscle 0.0%
skin 0.18% (1 of 552)
small intestine 1.58% (9 of 570)
spinal cord 0.54% (3 of 558)
spleen 0.53% (3 of 563)
stomach 2.17% (12 of 553)
striatum 0.54% (3 of 556)
testis 1.08% (6 of 557)
thymus 0.18% (1 of 546)
thyroid gland 3.03% (17 of 561)
trachea 0.53% (3 of 562)
uterus 0.0%
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 1.05% (4 of 382)
ear 0.25% (1 of 395)
embryo 0.0%
eye 0.27% (1 of 375)
footplate 0.26% (1 of 378)
forebrain 0.26% (1 of 388)
forelimb 0.28% (1 of 358)
handplate 0.0%
head 1.05% (4 of 381)
heart 0.0%
hindbrain 1.37% (5 of 365)
hindlimb 0.26% (1 of 384)
liver 0.27% (1 of 377)
lung 0.27% (1 of 369)
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.27% (1 of 365)
oral cavity 0.26% (1 of 379)
skin 0.0%
tail 0.27% (1 of 370)
tail somite group 0.27% (1 of 368)

Associated Images

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

Echo

M-Mode Images

48 Images

Adult LacZ

LacZ Images Wholemount

25 Images

X-ray

XRay Images Whole Body Lateral Orientation

5 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

5 Images

Human diseases caused by Pkd1 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 Pkd1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Pancreatic cysts, Hematuria, Elevat... ORPHA:730
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900

The table below shows human diseases predicted to be associated to Pkd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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
Polyhydramnios, Chronic Idiopathic
Polyhydramnios OMIM:263610
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Nephronophthisis 13
Nephronophthisis, Pancreatic cysts, Renal hypoplasia, Hepatic cysts, Stage 5 chronic kidney disea... OMIM:614377
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Cortical tubers, Polycystic kidney dysplasia OMIM:600273
Lethal Congenital Contracture Syndrome 6
Polyhydramnios, Decreased fetal movement OMIM:616248
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia OMIM:617610
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Decreased liver function, Hepatic cysts, Polycystic kidney dysplasia OMIM:600666
Pyloric Atresia
Polyhydramnios OMIM:265950
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... OMIM:601331
Nephronophthisis 20
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency OMIM:617271
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Enlarged kidney, Cholestasis, Pancreatic cysts, Bile duct proliferation, Urete... OMIM:208540
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Portal hypertension, Pancreatic cysts, Periportal fibrosis, Splenome... OMIM:263200
Campomelia, Cumming Type
Polycystic liver disease, Polysplenia, Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Congenital Pulmonary Airway Malformation
Premature birth, Polyhydramnios ORPHA:2444
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Pancreatic cysts, Hematuria, Elevat... ORPHA:730
Isolated Polycystic Liver Disease
Feeding difficulties in infancy, Abnormality of the pancreas, Gastrointestinal hemorrhage, Polycy... ORPHA:2924
Senior-Loken Syndrome 8
Nephronophthisis, Hepatic cysts, Pancreatic cysts OMIM:616307
Multiple Intestinal Atresia
Polyhydramnios ORPHA:2300
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Renal cyst OMIM:618270
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Hepatic cysts, Renal insuff... OMIM:618061
Lethal Congenital Contracture Syndrome 11
Polyhydramnios, Decreased fetal movement OMIM:617194
Circumvallate Placenta Syndrome
Polyhydramnios, Intracranial hemorrhage OMIM:215550
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Elevated circulating creatinine concentration, Hematuria, Proteinur... OMIM:614817
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Proteinuria, Nephritis, Microscopic hematuria, Ren... OMIM:161900
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Chronic kidney disease, Elevated hepatic transaminase, Nephropathy, Cholestatic liver disease, Ab... OMIM:602114
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Elevated hepatic tr... OMIM:600803
Campomelia, Cumming Type
Brachydactyly, Bowing of the long bones, Abnormality of the pancreas, Pancreatic cysts, Hydrops f... ORPHA:1318
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration, Polycystic kidney dysplasia, Recurrent urinary tra... OMIM:613095
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Hydrops fetalis, Multicystic kidney dysplasia, Cardiomyopathy, ... ORPHA:1909
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Nephrolithiasis, Hypercalcemia, Renal cortical adenoma, Parathyroid adenom... OMIM:145001
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Intestinal malrotation, Abnormal biliary tract morphology, Multicyst... ORPHA:3032
Meckel Syndrome, Type 7
Biliary cirrhosis, Hepatosplenomegaly, Portal hypertension, Cholestasis, Pancreatic cysts, Bile d... OMIM:267010
Cystic Echinococcosis
Abdominal symptom, Renal cyst, Abnormality of the testis size, Abnormality of the pancreas, Bilia... ORPHA:400
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal cyst, Pancreatic cysts, Proteinuria, Bile duct proliferation, Polycystic liver disease, Chr... OMIM:208500
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated alpha-fetoprotein, Sclerosing cholangitis, Portal hypertension, Elevated circulating ala... OMIM:619662
Renal Tubular Dysgenesis
Proximal tubulopathy, Polyhydramnios, Renotubular dysgenesis, Nephropathy, Premature birth, Joint... ORPHA:3033
Lipedema
Edema OMIM:614103
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Proteinuria, Glomerulopathy, Bone cyst, Renal insufficiency, Hyperparathyroidism ORPHA:2668
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Pancreatic cysts, Chronic pancreatitis, Tubular basement membrane disintegratio... OMIM:613159
Caroli Disease
Biliary cirrhosis, Nausea, Cholestasis, Cholangitis, Elevated gamma-glutamyltransferase level, Po... ORPHA:53035
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlargement OMIM:115210
Mirizzi Syndrome
Cholelithiasis, Nausea, Cholesterol gallstones, Anorexia, Jaundice, Gallbladder perforation, Abdo... ORPHA:521219
Hyperparathyroidism 4
Parathyroid carcinoma, Osteopenia, Nephrolithiasis, Hypercalcemia, Primary hyperparathyroidism OMIM:617343
Meckel Syndrome, Type 11
Oligohydramnios, Polycystic kidney dysplasia OMIM:615397
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia OMIM:173900
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Autoinflammation, Immune Dysregulation, And Eosinophilia
Nephrotic syndrome, Hepatosplenomegaly, Eosinophilic liver infiltration, Colonic eosinophilia, Me... OMIM:618999
Hanac Syndrome
Multiple renal cysts, Hematuria, Renal insufficiency ORPHA:73229
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Polycystic liver disease, Abdominal distention, Increased total bilirubin, Elevated c... OMIM:174050
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... OMIM:618773
Caroli Syndrome
Hepatic failure, Cholangitis, Polycystic kidney dysplasia, Intrahepatic cholestasis, Hyperbilirub... ORPHA:480520
Familial Isolated Hyperparathyroidism
Generalized osteoporosis, Nephrocalcinosis, Osteopenia, Hypercalcemia, Hypercalciuria, Infantile ... ORPHA:99879
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Hydrops fetalis, Squared ili... OMIM:215045
Peroxisome Biogenesis Disorder 6A (Zellweger)
Feeding difficulties in infancy, Renal cyst, Decreased liver function, Hepatomegaly OMIM:614870
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Increased circulating ferritin concentration, Anemia ORPHA:231249
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Renal Hypodysplasia/Aplasia 3
Renal agenesis, Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal dysplasia, ... OMIM:617805
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiomyopathy, Left atrial enla... OMIM:611556
Nephronophthisis 19
Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Stage 5 chron... OMIM:616217
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Cryptorchidism, Hyd... ORPHA:1263
Fibrosclerosis, Multifocal
Retroperitoneal fibrosis, Thyroiditis, Abnormality of the liver, Sclerosing cholangitis OMIM:228800
Alveolar Echinococcosis
Biliary cirrhosis, Renal cyst, Portal hypertension, Pancreatic cysts, Cholangitis, Cutaneous absc... ORPHA:284
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Increased bone mineral density, Hydrops fetalis, Splenomegal... ORPHA:2204
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Megalencephaly, Ventriculomegaly, Hydrocephalus OMIM:615938
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Hydronephrosis, Decreased liver function, Duplicated collecting system, Elevat... OMIM:617093
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Respiratory failure, Chronic tubulo... OMIM:602088
Immunodeficiency 56
Recurrent otitis media, Hepatic failure, Recurrent pneumonia, Cholangitis, Chronic diarrhea, Bron... OMIM:615207
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Hyperuricemia, Tubulointerstitial fibrosis... OMIM:613092
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy, Restrictive... OMIM:613424
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Generalized aminoaciduria, Renal cortical cysts, Hepatic steatosis, Nausea, Proximal ... OMIM:231680
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Neutropenia, Hypoproteinemia, Hypoalbuminemia OMIM:600351
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Po... OMIM:200995
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Thoracic aortic aneurysm, Descending aortic dissection, Aortic aneurysm, Asc... OMIM:611788
Igg4-Related Thyroid Disease
Sclerosing cholangitis, Euthyroid goiter, Hashimoto thyroiditis, Abnormality of the pituitary gla... ORPHA:64744
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hypochromia, Anemia OMIM:205950
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Hypercholesterolemia, Decreased liver function, Decreased circulating cerulopl... OMIM:616829
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Gastrointestinal hemorrhage, Cholestasis, Cholangitis, Elevated gamma-glutamyltra... ORPHA:731
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Cardiomyopathy, Mitral valve prolapse OMIM:614676
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Hydronephrosis, Increased inflammatory... ORPHA:449400
Biliary Atresia, Extrahepatic
Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Jaundice, Extrahepatic biliary duct a... OMIM:210500
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Nephronophthisis 16
Enlarged kidney, Hypertrophic cardiomyopathy, Pulmonic stenosis, Polycystic kidney dysplasia, Sit... OMIM:615382
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Nausea, Elevated circulating creatinine concentration, Gastrointestinal h... ORPHA:85450
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial... OMIM:601493
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy OMIM:242530
Kaposiform Lymphangiomatosis
Epistaxis, Enlarged kidney, Fractures of the long bones, Hepatosplenomegaly, Abnormal sacrum morp... ORPHA:464329
Meckel Syndrome, Type 6
Absent gallbladder, Renal cyst, Horseshoe kidney, Bile duct proliferation, Cystic liver disease, ... OMIM:612284
Nephronophthisis 9
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical microcysts OMIM:613824
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Thoracic aortic aneurysm, Patent ductus arteriosus, Descendin... OMIM:132900
Diaphanospondylodysostosis
Vertebral segmentation defect, Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Tracheo... OMIM:608022
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Renal cyst, Portal hypertension, Cholestasis, Pancreatic cysts, Pancreatic hypopla... OMIM:610199
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... OMIM:613496
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Neonatal death, Fetal akinesia sequence, Polyhydramnios OMIM:619602
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Azotemia, Familial
Azotemia OMIM:109160
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Aortic root aneurysm, Descend... ORPHA:229
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure, Renal steatosis OMIM:261650
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Gastrointestinal hemorrhage, Ulcerative colit... ORPHA:2137
Odontochondrodysplasia 1
Genu varum, Coronal cleft vertebrae, Delayed ossification of carpal bones, Osteoporosis, Polycyst... OMIM:184260
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Tuberous Sclerosis 2
Renal angiomyolipoma, Cortical tubers, Renal cyst, Adenoma sebaceum, Cardiac rhabdomyoma, Pulmona... OMIM:613254
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Hydrops fetalis, Breech presentation, Polyhydramni... OMIM:600972
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia, Lymphopenia OMIM:207731
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption, Hepatic failure, Hepatosplenomegaly, Elevated circulating alanine aminotransfe... ORPHA:79302
Nephronophthisis 3
Polyuria, Enuresis, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... OMIM:604387
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Meckel Syndrome 13
Flexion contracture, Micrognathia, Polycystic kidney dysplasia OMIM:617562
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Punctate keratitis, Hepatic failure, Renal Fanconi syndrome, 3... OMIM:557000
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Descending aortic dissection, Coronary artery aneurysm, Ascending aort... OMIM:615436
Bardet-Biedl Syndrome 10
Renal cyst, Abnormality of the kidney, Renal insufficiency OMIM:615987
Vesicoureteral Reflux 3
Hydronephrosis, Polyhydramnios, Vesicoureteral reflux, Hydroureter OMIM:613674
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Sacral dimple, Patent ductus arteriosus, Double outlet right ventr... OMIM:618845
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Renovascular hypertension, Aortic dissection OMIM:135580
Polysyndactyly With Cardiac Malformation
Renal cyst, Hepatic cysts OMIM:263630
Achondrogenesis, Type Ii
Absent vertebral body mineralization, Hydrops fetalis, Hypoplastic iliac wing, Polyhydramnios, Sh... OMIM:200610
Glycogen Storage Disease Iv
Hepatic failure, Hepatosplenomegaly, Portal hypertension, Tubulointerstitial fibrosis, Esophageal... OMIM:232500
Galactose Mutarotase Deficiency
Hypergalactosemia, Cholestasis, Decreased liver function, Hepatomegaly, Abnormal enzyme/coenzyme ... ORPHA:570422
Patent Ductus Venosus
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia OMIM:601466
Diarrhea 8, Secretory Sodium, Congenital
Polyhydramnios OMIM:616868
Tuberous Sclerosis 1
Renal angiomyolipoma, Cortical tubers, Renal cyst, Adenoma sebaceum, Cardiac rhabdomyoma, Pulmona... OMIM:191100
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Toe syndactyly, Spina bifida occulta at S1, Finger syndactyly, Bifid ... OMIM:102510
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Sclerosing cholangitis, Angular cheilitis, Hepatomegaly, Jaundice, Keratoconjunctivitis sicca, Pa... OMIM:260480
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ... OMIM:607361
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Rowley-Rosenberg Syndrome
Aminoaciduria, Cor pulmonale, Right ventricular hypertrophy OMIM:268500
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Splenomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia,... OMIM:603554
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Flexion contracture, Abnormal renal corticomedullary differentiatio... OMIM:616733
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Stage 5 chronic kidney disease, Hepatic cysts OMIM:613819
Mitochondrial Complex I Deficiency, Nuclear Type 29
Abnormal heart morphology, Stage 5 chronic kidney disease, Hypertrophic cardiomyopathy, Hyperalan... OMIM:618250
Tyrosinemia Type 1
Generalized aminoaciduria, Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carc... ORPHA:882
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Infectious encephalitis, Colitis, Protracted diarrhea, Recurrent ur... OMIM:209920
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hydrops fetalis, Hepatomegaly, Pulmonic stenosis, Restrictive cardiomyop... OMIM:619433
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Decreased liver function, Hepatomegaly, Jaundice, Elevated hepatic transaminas... OMIM:301045
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Ventriculomegaly, Hemimegalencephaly, Hypoplasia of the corpus callosum, Polymicro... OMIM:615937
Von Hippel-Lindau Syndrome
Epididymal cyst, Abnormality of the liver, Pancreatic cysts, Pheochromocytoma, Neoplasm of the pa... OMIM:193300
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Nephrolithiasis, Hematuria, Renal insuff... OMIM:614723
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Congenital Pancreatic Cyst
Anorexia, Jaundice, Abdominal pain, Abdominal distention, Pancreatitis, Vomiting ORPHA:313906
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal cyst, Short neck, Renal hypoplasia, Hydranencephaly, Ureteral agenesis, Renal dysplasia, Ar... OMIM:236500
Immune Deficiency Disease
Fulminant hepatitis, Cholangitis OMIM:242850
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Green urine, Cholestasis OMIM:614156
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Feeding difficulties in infancy, Cholestasis, Cholangitis, Decr... OMIM:124000
Genitopalatocardiac Syndrome
Renal cyst, Double outlet right ventricle, Right aortic arch, Ventricular septal defect, Transpos... OMIM:231060
Hyperparathyroidism-Jaw Tumor Syndrome
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalcemia, Hypercalciuria, Fi... ORPHA:99880
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Proteinuria, Increased hepatic glycogen content, Abnormality of the kidney, Hepa... ORPHA:369
Caroli Disease, Isolated
Portal hypertension, Cholangitis, Hepatomegaly, Esophageal varix, Liver abscess, Vomiting OMIM:600643
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Nephrotic syndrome, Hepatomegaly, Jaundice, Hepatitis ORPHA:60
Inflammatory Pseudotumor Of The Liver
Nausea, Elevated circulating alanine aminotransferase concentration, Abnormal liver sonography, E... ORPHA:90003
Galactosemia I
Hypergalactosemia, Vomiting, Decreased liver function, Hepatomegaly, Aminoaciduria, Increased lev... OMIM:230400
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal tricuspid valve morphology, Abnormal form of the vertebral bodies, Atrial sept... ORPHA:1354
Sialidosis Type 2
Flexion contracture, Kyphosis, Hydrops fetalis, Splenomegaly, Hepatomegaly, Osteoporosis, Dyspnea... ORPHA:87876
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Parathyroid Carcinoma
Renal cyst, Parathyroid carcinoma, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalce... ORPHA:143
Hypocalcemic Vitamin D-Resistant Rickets
Nephrolithiasis, Recurrent fractures, Abnormal bone structure, Hypocalcemia, Osteomalacia, Bone c... ORPHA:93160
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Cholestasis, Hepatomegaly, Asplenia, Oligohydramnios, St... OMIM:615415
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Renal tubular acidosis, Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Hyperparathyroidism OMIM:239199
Fetal Parvovirus Syndrome
Hydrops fetalis, Hypertrophic cardiomyopathy, Increased nuchal translucency, Ascites ORPHA:295
Preeclampsia
Elevated circulating creatinine concentration, Polycystic ovaries, Acute kidney injury, Proteinur... ORPHA:275555
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Hepatosplenomegaly, Hypercholesterolemia, Elevated alkaline phosphatase of bone ... OMIM:616828
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Elevated circulating creatinine concentration, Proteinuria... ORPHA:449395
Hardikar Syndrome
Hepatic failure, Cholestasis, Cholangitis, Bile duct proliferation, Hydronephrosis, Recurrent uri... OMIM:301068
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Renal cyst, Multinodular goiter OMIM:138790
Xk Aprosencephaly Syndrome
Atrial septal defect, Polyhydramnios, Ventricular septal defect, Abnormal morphology of the radius ORPHA:3469
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Cholestasis, Elevated gamma-glutamylt... ORPHA:562639
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Bronchiolitis, Abnormality of the kidney, Recurrent respiratory infec... OMIM:615993
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cholestasis, Jaundice, Elevated hepatic transa... OMIM:617156
Alport Syndrome
Proteinuria, Mesangial hypercellularity, Thin glomerular basement membrane, Dysphagia, Microscopi... ORPHA:63
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy OMIM:601494
Pearson Syndrome
Exocrine pancreatic insufficiency, Glycosuria, Hypokalemia, Hepatic failure, Lacticaciduria, Poor... ORPHA:699
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Short neck, Periportal fibrosis, Decreased skull ossification, Polycystic ki... OMIM:263210
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatic failure, Cholestasis, Feeding difficulties, Hepatomegaly, Jaundice, Abdominal distention,... OMIM:618528
Aa Amyloidosis
Adrenal insufficiency, Enlarged kidney, Hypothyroidism, Nephrotic syndrome, Acute kidney injury, ... ORPHA:85445
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Nephrotic syndrome, Hepatomegaly, Elevated circulating creatine kinase concentrat... OMIM:617713
Holoprosencephaly 5
Semilobar holoprosencephaly, Central diabetes insipidus, Holoprosencephaly, Lobar holoprosencepha... OMIM:609637
Infantile Sialic Acid Storage Disease
Hydrocephalus, Metaphyseal irregularity, Osteopenia, Nephrotic syndrome, Hydrops fetalis, Splenom... OMIM:269920
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Hyperuricemia, Multiple glomerular cysts, Renal insufficiency OMIM:609886
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Polyuria, Growth delay, Tubulointerstitial fibrosis, Tubular bas... OMIM:256100
Paget Disease Of Bone 6
Nephrocalcinosis, Left ventricular hypertrophy OMIM:616833
Thymic Neuroendocrine Tumor
Osteopenia, Hypercalcemia, Pituitary prolactin cell adenoma, Primary hyperparathyroidism, Increas... ORPHA:97289
Primary Hepatic Neuroendocrine Carcinoma
Elevated alkaline phosphatase of hepatic origin, Nausea, Biliary tract obstruction, Elevated gamm... ORPHA:100085
Eng-Strom Syndrome
Brachydactyly, Scoliosis, Ventricular septal defect, Camptodactyly of finger, Abnormal cardiac se... ORPHA:1937
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Decreased liver function, Eczema, Cirrhosis, Abnormal circulating porphyrin conce... ORPHA:79278
Bardet-Biedl Syndrome 6
Renal cyst, Hypospadias OMIM:605231
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Ring Chromosome 8 Syndrome
Hydronephrosis, Polyhydramnios, Abnormality of the ureter ORPHA:1450
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Slender long bone, Hypoplastic pelvis, Spina bifida occulta, Sacrococcygeal pilonidal abnormality... ORPHA:2840
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Cerebral cortical atrophy, Subcortical cerebral atrophy, Cerebral cortical hemiatrophy, Hydroceph... ORPHA:2703
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Hyperlipidemia, Elevated... ORPHA:567983
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Hypoalbuminemia, Focal segmental gl... OMIM:614196
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Lymphopenia ORPHA:1116
Hepatitis, Fulminant Viral, Susceptibility To
Nausea, Hepatic failure, Hashimoto thyroiditis, Hepatomegaly, Jaundice, Elevated hepatic transami... OMIM:618549
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Fetal Akinesia Deformation Sequence 4
Short neck, Flexion contracture, Kyphosis, Rocker bottom foot, Cryptorchidism, Decreased fetal mo... OMIM:618393
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Ureteral atresia, Hydronephrosis, Thoracolumbar scoliosis, Hydrocephalus, Spina... OMIM:183802
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... OMIM:612926
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Congestive heart failure, Left ventricu... OMIM:604169
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Renal cyst, Fat malabsorption, Cholestasis, Increased circula... ORPHA:79303
Nephronophthisis 4
Nephronophthisis, Polyuria, Growth delay, Tubulointerstitial fibrosis, Renal tubular atrophy, Ren... OMIM:606966
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Increased serum bile acid concentration, Splenomegaly, Hepa... OMIM:616278
Isolated Biliary Atresia
Fat malabsorption, Periportal fibrosis, Cholestasis, Bile duct proliferation, Hypopituitarism, At... ORPHA:30391
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Dilation of lateral ventricles, Diffuse cerebral atrophy ORPHA:363654
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Dilation of lateral ventricles, Cortical dysplasia, Cerebral hypoplasia ORPHA:101071
Spondylosis, Cervical
Spondylolysis, Osteoarthritis, Spondylolisthesis, Spina bifida occulta, Cervical spondylosis OMIM:184300
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Abnormal ilium morphology, Short long bone, Abnormality of t... ORPHA:93316
Fetal Akinesia Syndrome, X-Linked
Fetal akinesia sequence, Polyhydramnios, Stillbirth OMIM:300073
Intellectual Developmental Disorder, X-Linked 103
Micropenis, Dilation of lateral ventricles, Polymicrogyria OMIM:300982
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Neonatal death... OMIM:619003
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Polycystic liver disease, Renal cyst OMIM:109130
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Accessory spleen, Pancreatic cysts, Cryptorchidism, Ureteral du... ORPHA:564
Multiple Endocrine Neoplasia, Type Iv
Renal angiomyolipoma, Carcinoma, Parathyroid adenoma, Pancreatic endocrine tumor, Pituitary adeno... OMIM:610755
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Generalized osteosclerosis, Polyhydramnios, Short long bone, Edema ORPHA:1423
Calciphylaxis
Stage 5 chronic kidney disease, Hyperphosphatemia, Ectopic ossification, Secondary hyperparathyro... ORPHA:280062
Rhizomelic Chondrodysplasia Punctata
Abnormality of epiphysis morphology, Epiphyseal stippling, Scoliosis, Abnormality of the metaphys... ORPHA:177
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Constipation, Gastrointestinal dysmotility, Abdominal pain, Abdominal distention, ... OMIM:613662
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Enuresis, Tubulointerstitial nephritis, Hyperuricemia, Rena... OMIM:603860
Cholesteryl Ester Storage Disease
Hepatic failure, Hypercholesterolemia, Splenomegaly, Hepatomegaly, Jaundice, Esophageal varix, Na... ORPHA:75234
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hepatic steatosis, Cholestasis, Hypermethioninemia, Decreased liver function, Portal fibrosis, El... OMIM:614300
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Aplasia/Hypoplasia of the lungs, Ascites, Splenomegaly, Hypoplasia of ... ORPHA:1046
Psoriasis 14, Pustular
Cholangitis, Elevated circulating C-reactive protein concentration, Oligoarthritis, Furrowed tong... OMIM:614204
Nephronophthisis-Like Nephropathy 2
Periglomerular fibrosis, Elevated circulating creatinine concentration, Polyuria, Renal insuffici... OMIM:619468
Cardiomyopathy, Dilated, 1Kk
Ventricular septal hypertrophy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventric... OMIM:615248
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Hypocalcemia, Abnormal spleen physiology, ... ORPHA:398063
Glucose-Galactose Malabsorption
Weight loss, Nephrolithiasis, Hematuria, Hypercalcemia, Hyperactive bowel sounds, Abdominal diste... ORPHA:35710
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Feeding difficulties in infancy, Hepatomegaly, Jaundice, Acute ... OMIM:613070
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Elevated circulating creatinine concentration, Decreased glomerular filtrat... OMIM:174000
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Elevated circulating creatinine concentration, Acute kidney injury, Abnormal ... ORPHA:567544
Ventriculomegaly With Defects Of The Radius And Kidney
Renal agenesis, Ectopic kidney, Horseshoe kidney, Ureteral duplication, Ventriculomegaly, Hydroce... OMIM:602200
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Cholangitis, Enlarged lacrimal glands, Abnormal pancreas morp... ORPHA:449432
Atresia Of Small Intestine
Intrauterine growth retardation, Abnormal vascular morphology, Feeding difficulties, Failure to t... ORPHA:1201
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Elevated... OMIM:613027
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Neonatal death, Polyhydramnios OMIM:612138
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Spina bifida, Patellar dislocation... OMIM:274000
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibroelastosis, Cardiomyocyte... OMIM:612158
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatic failure, Cholestasis, Hepatocellular necros... OMIM:231100
Hypocalciuric Hypercalcemia, Familial, Type Iii
Parathormone-independent increased renal tubular calcium reabsorption, Multiple small medullary r... OMIM:600740
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Recurrent fractures, Splenomegaly, Hepatomegaly, Hyperparathyroidism OMIM:618107
Coach Syndrome 2
Elevated circulating creatinine concentration, Congenital hepatic fibrosis, Hyperechogenic kidney... OMIM:619111
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Flexion contracture, Skeletal muscle atrophy, Muscle fiber necrosis... OMIM:253700
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly, Partial agenesis of the corpus callo... OMIM:604213
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Elevated circulating creatinine concentration, Di... OMIM:179800
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
Holt-Oram Syndrome
Hypoplastic left heart, Scoliosis, Ventricular septal defect, Atrioventricular canal defect, Abno... ORPHA:392
Achondrogenesis, Type Ia
Hypoplastic ischia, Short neck, Hydrops fetalis, Hypoplastic scapulae, Decreased skull ossificati... OMIM:200600
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function ORPHA:306550
Immunodeficiency 92
Sclerosing cholangitis, Pneumonia, Cholangitis, Hepatomegaly, Chronic diarrhea, Osteomyelitis, Es... OMIM:619652
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Micropenis, Intestinal malrotation, Hamartoma of tongue, Polycystic kidney dysplasia, Microglossi... OMIM:263520
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated gamma-gl... OMIM:603471
Microsporidiosis
Nausea, Cholangitis, Prostatitis, Hepatitis, Pancreatitis, Keratitis, Glossitis, Infectious encep... ORPHA:2552
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ventriculomegaly, Microcephaly, Cortical dysplasia, Hydrocep... OMIM:618709
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Uric acid urolithiasis independent of gout, Hematuria, Acute ki... ORPHA:94088
Arthrogryposis Multiplex Congenita 6
Decreased fetal movement, Death in childhood, Polyhydramnios, Neonatal death, Death in infancy, H... OMIM:619334
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Steatorrhea OMIM:616263
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Abnormality of the ulna, Abnormality of the humeroulnar joint, Apl... ORPHA:1570
Alexander Disease
Increased CSF protein, Hydrocephalus OMIM:203450
Hypophosphatemic Rickets And Hyperparathyroidism
Hypercalcemia, Hypophosphatemic rickets, Parathyroid hyperplasia, Hyperparathyroidism, Hypophosph... OMIM:612089
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Leukopenia, Hemophag... OMIM:267700
Femoral-Facial Syndrome
Abnormal sacrum morphology, Abnormality of pelvic girdle bone morphology, Preaxial foot polydacty... ORPHA:1988
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Atrial septal defect, Postaxial oligodactyly, Sh... ORPHA:52056
Birt-Hogg-Dube Syndrome
Multiple lipomas, Renal cyst, Renal neoplasm, Colon cancer, Cutaneous leiomyoma, Fibrofolliculoma... OMIM:135150
Achondrogenesis Type 1A
Short neck, Short palm, Recurrent fractures, Abnormal enchondral ossification, Hydrops fetalis, T... ORPHA:93299
Mosaic Trisomy 1
Renal cortical cysts, Renal cyst, Penile hypospadias, Knee joint hypermobility, Hepatic agenesis,... ORPHA:1692
Nephronophthisis 18
Nephronophthisis, Cholestasis, Tubulointerstitial nephritis, Thickened glomerular basement membra... OMIM:615862
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Abnormality of the shoulder girdle m... ORPHA:206546
Radiculoneuropathy, Fatal Neonatal
Polyhydramnios, Death in childhood OMIM:266250
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Diarrhea, Vomiting ORPHA:35122
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Cryptorchidism, Micropenis, Hydrops fetalis, Hypertrophic cardiomyopathy,... OMIM:618815
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Premature birth, Polyhydramnios OMIM:618541
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Renal ce... ORPHA:805
Diffuse Neonatal Hemangiomatosis
Renal hypoplasia/aplasia, Ascites, Hydrops fetalis, Hepatomegaly, Polyhydramnios, Renal insuffici... ORPHA:2123
Catel-Manzke Syndrome
Metatarsus valgus, Abnormality of epiphysis morphology, Atrial septal defect, Clinodactyly of the... ORPHA:1388
Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate
Polyhydramnios OMIM:241850
Achondrogenesis
Short neck, Abnormal enchondral ossification, Hydrops fetalis, Thickened nuchal skin fold, Polyhy... ORPHA:932
Cardiomyopathy, Familial Hypertrophic, 17
Left ventricular hypertrophy, Cardiomyopathy, Myocardial fibrosis OMIM:613873
Neural Tube Defects, Susceptibility To
Myelomeningocele, Sacral dimple, Anencephaly, Absence of the sacrum, Asymmetry of spinal facet jo... OMIM:182940
Meckel Syndrome, Type 2
Bile duct proliferation, Renal cyst, Meningocele, Cleft palate OMIM:603194
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Short neck, Rocker bottom foot, Cryptorchidism, Decreased fetal movement, Death in childhood, Pol... OMIM:618766
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Acute kidney injury, Dysuria, Macroscopic hematuri... ORPHA:79233
Band Heterotopia
Agenesis of corpus callosum, Ventriculomegaly, Subcortical band heterotopia, Hydrocephalus, Polym... OMIM:600348
Czeizel-Losonci Syndrome
High palate, Myelomeningocele, Hydronephrosis, Tracheoesophageal fistula, Thoracolumbar scoliosis... ORPHA:2437
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Atelosteogenesis Type I
Malrotation of colon, Coronal cleft vertebrae, Absent or minimally ossified vertebral bodies, Joi... ORPHA:1190
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Fractured radius, Webbed neck, Wormian bones, Flexion contracture, Osteopenia, Multiple prenatal ... OMIM:616897
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries ORPHA:90301
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent foramen ovale, Patent ductus arteriosus, Cutaneous syndactyly, Atrial... OMIM:618316
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Elevated circulatin... OMIM:619232
Peroxisome Biogenesis Disorder 5A (Zellweger)
Poor suck, Feeding difficulties in infancy, Renal cyst, Renal cortical microcysts, Hepatosplenome... OMIM:614866
Nemaline Myopathy 8
Fetal akinesia sequence, Polyhydramnios, Death in infancy, Decreased fetal movement OMIM:615348
Hyperuricemic Nephropathy, Familial Juvenile, 3
Nephropathy, Renal insufficiency OMIM:614227
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation, Polyhydramnios, Hydrocephalus, Holo... OMIM:617967
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Fetal pyelectasis, Knee flexion contracture, Unilateral wrist flexion contracture, Arthrogryposis... OMIM:616531
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Nephrocalcinosis, Decreased calvarial ossification, Craniosynostosi... OMIM:241500
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Achondrogenesis Type 1B
Short neck, Abnormal enchondral ossification, Hydrops fetalis, Thickened nuchal skin fold, Polyhy... ORPHA:93298
Joubert Syndrome 35
Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections, Renal fibrosis OMIM:618161
Brachyolmia Type 1, Hobaek Type
Osteopenia, Short neck, Short femoral neck, Kyphosis, Intervertebral space narrowing, Back pain, ... OMIM:271530
Cirrhosis, Familial
Jaundice, Increased level of L-fucose in urine, Abdominal distention, Micronodular cirrhosis, Inc... OMIM:215600
Renal Dysplasia
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... ORPHA:93108
Minicore Myopathy With External Ophthalmoplegia
High palate, Feeding difficulties in infancy, Hydrops fetalis, Joint laxity, Decreased fetal move... OMIM:255320
Glycogen Storage Disease Ia
Enlarged kidney, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased glomerular filtration ra... OMIM:232200
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hydrops fetalis, Splenomegaly, Hepatomegaly, Polyhydramnios, Preeclamps... ORPHA:163596
Bile Acid Synthesis Defect, Congenital, 4
Fat malabsorption, Hepatic failure, Hepatomegaly, Intrahepatic cholestasis, Giant cell hepatitis,... OMIM:214950
Joubert Syndrome 6
Bile duct proliferation, Nephronophthisis, Stage 5 chronic kidney disease, Hepatic fibrosis OMIM:610688
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Webbed neck, Short neck, Recurrent fractures, Abnormal form of the ... ORPHA:1486
Lipoprotein Glomerulopathy
Renal insufficiency, Glomerulopathy, Proteinuria, Mesangial hypercellularity OMIM:611771
Renal Cysts And Diabetes Syndrome
Exocrine pancreatic insufficiency, Unilateral renal agenesis, Glycosuria, Epididymal cyst, Elevat... OMIM:137920
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Hypoproteinemia, Glomerular sclerosis, Hyperlipidemia, Small for ges... OMIM:256300
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus ORPHA:2807
Ornithine Transcarbamylase Deficiency
Hepatic failure, Splenomegaly, Aminoaciduria, Pyloric stenosis, Hyperammonemia ORPHA:664
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Generalized joint laxity, Scoliosis, Irregular carpal bones, A... ORPHA:750
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hepatosplenomegaly, Portal hypertension, Cholangitis, Gastrostomy tube feeding in infancy, Acute ... ORPHA:228426
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Eleva... OMIM:613812
Tracheal Agenesis
Polyhydramnios ORPHA:3346
Holt-Oram Syndrome
Small thenar eminence, Hypoplastic left heart, Aplasia of the ulna, Ventricular septal defect, Ap... OMIM:142900
Classic Multiminicore Myopathy
Right ventricular hypertrophy, Congenital muscular dystrophy, Muscle fiber atrophy, Multiple join... ORPHA:324604
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Splenomegaly, Hepatomegaly, Pulmonic stenosis, Pleural... ORPHA:2414
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Split foot, Tetralogy of Fallot, Ventricular septal defect, Hypoplastic right heart OMIM:601348
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Abnormal heart morphology OMIM:617744
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Hypoplasia of the ulna, Renal hypoplasia, Micrognathia, Ventricular septal defect, Tr... OMIM:228940
Thymic Aplasia With Fetal Death
Renal agenesis, Stillbirth, Ureteral agenesis, Pulmonary hypoplasia OMIM:274210
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Arthrogryposis, Distal, Type 2A
Cryptorchidism, Scoliosis, Oligohydramnios, Hip dislocation, Short neck, Joint dislocation, Adduc... OMIM:193700
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pancreatic fibrosis OMIM:615503
Brachydactyly, Type B1
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Join... OMIM:113000
Lysosomal Acid Lipase Deficiency
Low alkaline phosphatase, Increased circulating lactate dehydrogenase concentration, Hepatic fail... OMIM:278000
Fountain Syndrome
Brachydactyly, Kyphosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Short ... ORPHA:3219
Pontocerebellar Hypoplasia, Type 1E
Death in infancy, Polyhydramnios OMIM:619303
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Agenesis of corpus callosum, Hydrocephalus OMIM:300864
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Trismus, Micropenis, Micrognathia, Abnormal heart morphology, Microphallus OMIM:218450
Preeclampsia/Eclampsia 1
Eclampsia, Maternal hypertension, Hypertension, Preeclampsia, Edema OMIM:189800
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Anorexia, Chronic diarrhea, Jaundice, Nausea and vomiting, Abdominal pain, Elevat... ORPHA:65682
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Chilblain Lupus 2
Edema, Vasculitis OMIM:614415
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic failure, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:616719
Galactose Epimerase Deficiency
Feeding difficulties, Splenomegaly, Jaundice, Hepatomegaly, Nausea and vomiting, Aminoaciduria, W... ORPHA:79238
Spondylometaphyseal Dysplasia, East African Type
Brachydactyly, Genu varum, Ovoid vertebral bodies, Metaphyseal spurs, Rounded epiphyses, Short lo... OMIM:611702
Pierre Robin Syndrome
Cor pulmonale, Micrognathia OMIM:261800
Trehalase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Primary Effusion Lymphoma
Pleural effusion, Dyspnea, Abdominal pain, Abdominal distention, Abnormality of the peritoneum, P... ORPHA:48686
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Decreased liver function, Hepatomegaly, Feeding difficulties OMIM:246900
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic aneurysm, Mucoid extracellular matrix accumulation, Eczematoid dermatitis, Aortic dissection OMIM:130090
Rhyns Syndrome
Hypopituitarism, Nephronophthisis, Abnormality of the liver, Multicystic kidney dysplasia ORPHA:140976
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Hydrocephalus, Autosomal Dominant
Dandy-Walker malformation, Hydrocephalus OMIM:123155
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Hydrops fetalis, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Schneckenbecken Dysplasia
Advanced ossification of carpal bones, Brachydactyly, Metaphyseal irregularity, Short neck, Advan... OMIM:269250
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Nephrolithiasis, Hypercalcemia, Hypercalciuria, Parathyroid adenoma, Pancreatiti... OMIM:145980
Ceroid storage disease
Hepatic failure, Abnormality of the spleen OMIM:214200
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Block vertebrae, Vertebral fusion, Abnormality of the odontoid process, Spina b... OMIM:613686
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Hydrops Fetalis
Nonimmune hydrops fetalis, Abnormality of the kidney, Pleural effusion, Miscarriage, Twin-to-twin... ORPHA:1041
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Acute kidney injury, Proteinuria, Chronic kidney disease, Glomerular subendot... ORPHA:54370
Disorder Of Sex Development-Intellectual Disability Syndrome
Short neck, Kyphosis, Hypoplasia of penis, Spina bifida occulta, Reduced bone mineral density, Ge... ORPHA:2983
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Nephropathy, Deafness, And Hyperparathyroidism
Hyperparathyroidism, Parathyroid hyperplasia, Nephropathy, Renal insufficiency OMIM:256120
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasi... OMIM:607765
Greenberg Dysplasia
Multiple prenatal fractures, Hypoplastic vertebral bodies, Toxemia of pregnancy, Pancreatic islet... OMIM:215140
Acrodysplasia Scoliosis
Brachydactyly, Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Distal Trisomy 14Q
Abnormal aortic morphology, Short stature, Patent ductus arteriosus, Abnormality of the upper uri... ORPHA:1705
Combined Oxidative Phosphorylation Deficiency 11