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Gene: Raly MGI:97850

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Gene Summary

Name:
hnRNP-associated with lethal yellow
Synonyms:
Merc

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal lung morphology Ralyem2(IMPC)Tcp HOM Early adult 0.00
abnormal pancreas morphology Ralyem2(IMPC)Tcp HOM Early adult 0.00
increased circulating triglyceride level Ralyem2(IMPC)Tcp HOM Early adult 5.78×10-05
short tibia Ralyem2(IMPC)Tcp HOM Early adult 7.46×10-07

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lacZ Expression

Expression data not available

Associated Images

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

Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Skull Dorso Ventral Orientation

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Eye Morphology

Images Ophthalmoscopy

5 Images

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X-ray

XRay Images Skull Lateral Orientation

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Immunophenotyping

Panel A FCS file(s)

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X-ray

XRay Images Whole Body Lateral Orientation

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Combined SHIRPA and Dysmorphology

Images

2 Images

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Human diseases caused by Raly 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.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypertriglyceridemia, Hyperchol... OMIM:232700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... OMIM:249700
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Hyp... ORPHA:1972
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis OMIM:246650
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... OMIM:601376
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... ORPHA:93323
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypopituitarism OMIM:144600
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypopituitarism OMIM:145750
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hypermethioninemia, Hyper... OMIM:605814
Niemann-Pick Disease, Type B
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL cholesterol co... OMIM:607616
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Clinodactyly of the 5th finger, Clinodactyly of the 5th toe OMIM:618010
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:610947
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Micrognathia, Hepatic steatosis ORPHA:436182
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Orofaciodigital Syndrome Viii
Short tibia, Recurrent aspiration pneumonia, Syndactyly, Polydactyly OMIM:300484
Dyschondrosteosis And Nephritis
Ulnar bowing, Short tibia, Radial bowing, Short forearm OMIM:127350
Blount Disease
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... ORPHA:2768
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... ORPHA:2756
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... OMIM:616516
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Splenomegaly, Hepatosplenomegaly, Recurrent upper r... OMIM:613101
Temple Syndrome
Small hand, Micrognathia, Hypertriglyceridemia, Short foot, Clinodactyly, Decreased testicular si... OMIM:616222
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemia, Jaundice ORPHA:75234
Congenital Disorder Of Glycosylation, Type Ig
Hypocalcemia, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia... OMIM:607143
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... OMIM:207750
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kinase conce... OMIM:610717
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, H... OMIM:603471
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia OMIM:306000
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... OMIM:612526
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... OMIM:201170
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Plin1-Related Familial Partial Lipodystrophy
Calf muscle hypertrophy, Hypertriglyceridemia, Hepatic fibrosis, Polycystic ovaries, Hepatic stea... ORPHA:280356
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, H... OMIM:300635
Rajab Interstitial Lung Disease With Brain Calcifications 2
Arachnodactyly, Hepatosplenomegaly, Abnormal pulmonary interstitial morphology, Hypertriglyceride... OMIM:619013
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, J... OMIM:603552
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Micrognathia, Short tibia, Micromelia, Oligodactyly, Pu... OMIM:251230
Hyperlipoproteinemia, Type Id
Hyperlipoproteinemia, Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concent... OMIM:615947
Hydrocephalus With Associated Malformations
Tibial bowing, Micrognathia, Short lower limbs, Abnormal foot morphology, Pulmonary hypoplasia, L... OMIM:236640
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the long bones, Short long bone, Acet... ORPHA:1505
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Calf muscle hypertrophy, Hypertriglyceridemia, Polycy... ORPHA:435651
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Steatorrhea, Pancreatic pseudocyst, Pleural effu... OMIM:167800
Duodenal Atresia
Annular pancreas, Abnormality of the pulmonary artery, Abnormality of the pancreas ORPHA:1203
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... OMIM:601560
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hypertriglyceridemia, Hepatomegaly OMIM:608600
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia OMIM:177000
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the ulna, Hypoplastic pelvis, P... OMIM:208500
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Orofaciodigital Syndrome Ix
Short tibia, Camptodactyly, Recurrent aspiration pneumonia, Hand polydactyly, Toe syndactyly OMIM:258865
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep... ORPHA:209902
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Stuve-Wiedemann Syndrome 1
Femoral bowing, Ulnar deviation of finger, Pulmonary hypoplasia, Contracture of the proximal inte... OMIM:601559
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Increased circulating chylomicron... OMIM:238600
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hepatic steatosis OMIM:613877
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, ... OMIM:613027
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Hepatic steatosis ORPHA:79085
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... ORPHA:166016
Slc35A2-Cdg
Talipes equinovarus, Increased circulating thyroglobulin level, Short tibia, Aplasia/hypoplasia i... ORPHA:356961
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level, Hepatic steatosis, Hepatomegaly OMIM:615238
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Tibial Hemimelia
Absent tibia OMIM:275220
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Increased LDL cholesterol concentration, Splenomegaly, Steator... OMIM:278000
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal circulating lipid concentration, Peritonitis, Hypertriglyceridemia, Hypoalbuminemia, Res... ORPHA:567548
Microphthalmia With Limb Anomalies
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... ORPHA:1106
Atelosteogenesis Type Iii
Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... ORPHA:56305
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Talipes equinovarus, Elevated circulating follicle stimulating horm... OMIM:609441
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Neonatal ch... OMIM:214900
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Acetabular spurs, Postaxial polydactyly, Short ribs, Femoral bowing, Preaxial polydactyly, Pancre... OMIM:615503
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... OMIM:615558
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158057
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Short ribs, Pancreatic fibrosis, Brachydactyly, Postaxial polysyndactyly of foot, Postaxial hand ... OMIM:263520
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Hepatocellular... ORPHA:247585
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Talipes, Radial... OMIM:227270
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... OMIM:609945
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Polycyst... OMIM:604367
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... OMIM:250215
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hepatic steatosis, Hepatomegaly ORPHA:363400
Perlman Syndrome
Micrognathia, Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly ORPHA:2849
Glycerol Kinase Deficiency
Hypertriglyceridemia, Cryptorchidism OMIM:307030
Femoral-Facial Syndrome
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short femur, Micrognathia, Radio... ORPHA:1988
Smith-Magenis Syndrome
Brachydactyly, Hypertriglyceridemia, Pes planus, Hypercholesterolemia, Short palm OMIM:182290
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Micrognathia, Hypertriglyceridemia, Cryptorchidism, Hepatic steatosis OMIM:615381
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Omodysplasia 1
Cryptorchidism, Limited knee flexion/extension, Increased fibular diameter, Micrognathia, Limited... OMIM:258315
Congenital Generalized Lipodystrophy
Hepatomegaly, Cirrhosis, Increased C-peptide level, Long foot, Large hands, Hypertriglyceridemia,... ORPHA:528
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased HDL cholesterol concentration, Increased... OMIM:618620
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Pancreatitis, Splenomegaly, Cirrhosis, Calf muscle pseudohypertrophy, Hypertriglyce... ORPHA:79083
Lipe-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceri... ORPHA:435660
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... ORPHA:247598
Atelosteogenesis Type I
Talipes equinovarus, Short femur, Abnormal ossification involving the femoral head and neck, Micr... ORPHA:1190
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Splenomegaly, Micrognathia, Abnormality of fibula morphology, Pulmo... ORPHA:3035
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... OMIM:613091
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Splenomegaly, Increa... OMIM:267700
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Patellar hypop... OMIM:119800
Dysbetalipoproteinemia
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, A... ORPHA:412
Ulnar/Fibular Ray Defect And Brachydactyly
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila... OMIM:608571
Craniosynostosis With Fibular Aplasia
Cryptorchidism, Fibular aplasia OMIM:218550
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Familial Chylomicronemia Syndrome
Hyperlipidemia, Jaundice, Hepatosplenomegaly, Acute pancreatitis, Hypertriglyceridemia, Increased... ORPHA:444490
Shox-Related Short Stature
Forearm undergrowth, Tibial bowing, Micrognathia, Genu valgum, Short foot, Lower limb undergrowth... ORPHA:314795
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Recurrent upper respiratory tract infections, Hypertriglyceridemia, Decr... ORPHA:66628
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hypertriglyceridemia, Splenomegaly OMIM:618398
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Postaxial polydactyly, Short ribs, Micrognathia, Preaxial polydacty... OMIM:617925
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Seckel Syndrome 10
Microretrognathia, Metaphyseal widening, Cone-shaped epiphysis, Elevated circulating luteinizing ... OMIM:617253
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated circulating creatine ki... ORPHA:370
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Decreased HDL choles... ORPHA:650
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Recurrent upper respiratory tract infections, Hypertriglyceridemia, Decr... ORPHA:179494
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Polycystic ovaries, Hepatic steat... ORPHA:2348
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Recurrent respiratory infections, Hyperuricemia ORPHA:364
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses OMIM:166740
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Fanconi-Bickel Syndrome
Hypophosphatemia, Hepatomegaly, Increased hepatic glycogen content, Hepatocellular carcinoma, Hyp... ORPHA:2088
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Pulmonary hypop... ORPHA:2470
Microtriplication 11Q24.1
Clinodactyly of the 5th finger, Talipes equinovarus, Hyperlipidemia, Small hand, Genu valgum, Sho... ORPHA:289522
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... OMIM:164900
Mandibuloacral Dysplasia
Short clavicles, Micrognathia, Acroosteolysis of distal phalanges (feet), Hypertriglyceridemia, I... ORPHA:2457
Acquired Generalized Lipodystrophy
Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Calf muscle pseudohypertrophy,... ORPHA:79086
Pancreatic Agenesis 2
Pancreatic hypoplasia, Steatorrhea OMIM:615935
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Short humerus, Shoulder dislocation, G... OMIM:171480
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Hepatomegaly, Hepatoblastoma, Absent glenoid fossa, Clinodactyly of... ORPHA:96334
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carci... ORPHA:369
Campomelia, Cumming Type
Polycystic liver disease, Polysplenia, Pancreatic cysts, Bowing of the long bones OMIM:211890
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... ORPHA:158061
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal distal femoral condyles,... OMIM:307800
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... ORPHA:3320
Mitchell-Riley Syndrome
Annular pancreas, Hyperbilirubinemia, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent... OMIM:615710
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Decreased response to growth hormone stimulation test, De... OMIM:203800
Smith-Magenis Syndrome
Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Hypertriglyceridemia, Pes planus, Hy... ORPHA:819
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated circulating creatine kinase concentration, Choles... ORPHA:264580
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia OMIM:617575
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Cholestatic liver disease, Microretrognathia, Hepatomegaly, Mu... OMIM:619418
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... OMIM:208540
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Portal hyperten... ORPHA:1414
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Bronchiolitis obliterans organizing pneumonia, Sple... OMIM:619802
Feingold Syndrome
Annular pancreas, Clinodactyly of the 5th finger, Micrognathia, Deviation of the 2nd finger, Brac... ORPHA:1305
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia, Pleural effusi... OMIM:618183
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated circulating creatine ki... ORPHA:79240
Glycogen Storage Disease Iii
Hepatic fibrosis, Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration OMIM:232400
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hypo... ORPHA:98855
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Orofaciodigital Syndrome Type 2
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... ORPHA:2751
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Abnormality of the hallux, Exocrine pancreatic insufficiency, Hepatomegaly, Ulnar deviation of th... ORPHA:456312
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Pes cavus, Elevated circulating creatin... OMIM:615980
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Pancreatitis, Hepatomegaly, Splenomegaly, Micrognathia, Decreased HDL cholesterol concentration, ... ORPHA:280365
Classical-Like Ehlers-Danlos Syndrome Type 2
Abnormality of toe, Knee dislocation, Equinus calcaneus, Arachnodactyly, Micrognathia, Shoulder d... ORPHA:536532
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... OMIM:206920
Acro-Renal-Mandibular Syndrome
Split foot, Hypoplasia of the radius, Micrognathia, Rudimentary fibula, Rudimentary to absent tib... ORPHA:958
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Cholestatic liver disease, Hepatomegaly, Splenomega... ORPHA:540
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoplasia of the thymus, Hyp... OMIM:619313
Pancreatic Agenesis 1
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency, Reduced C-peptide l... OMIM:260370
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Splenomegaly, Hepato... OMIM:603553
X-Linked Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... ORPHA:98863
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype... ORPHA:261
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Palmoplantar hyperhidrosis, Hypertriglyceridemia, Decreased testicular size, Hypercholesterolemia... OMIM:610644
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Rhizomelic arm shortening, Ge... OMIM:223800
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly OMIM:165590
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:277460
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o... OMIM:600002
Tropical Pancreatitis
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Pancreatic calcification, P... ORPHA:103918
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Micromelia, Postaxial hand polydactyly, Pulmonary hypoplasia, ... OMIM:200995
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleated giant chon... OMIM:108720
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... OMIM:601346
Shwachman-Diamond Syndrome 2
Metaphyseal irregularity, Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Metaphyse... OMIM:617941
Spondyloepimetaphyseal Dysplasia, Krakow Type
Annular pancreas, Metaphyseal irregularity, 2-3 toe syndactyly, Irregular epiphyses, Brachydactyl... OMIM:618162
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Micrognathia, Mesomelic arm shortening, Fibular hypoplasia, Ulnar bowing OMIM:113470
H Syndrome
Hepatosplenomegaly, Camptodactyly, Hypertriglyceridemia, Pes planus, Hallux valgus, Recurrent pha... ORPHA:168569
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Steatorrhea, Intraalveo... ORPHA:470
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Postaxial foot polydactyly, ... OMIM:601027
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceride... OMIM:613327
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Micronodular cirrhosis, Abnormal circulating creatine kinase concentration, Hypertr... ORPHA:98907
Proteasome-Associated Autoinflammatory Syndrome 3
Finger swelling, Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:617591
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Radiou... ORPHA:1788
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, ... OMIM:151660
Xp21 Deletion Syndrome
Hypertriglyceridemia, Calf muscle hypertrophy, Elevated circulating creatine kinase concentration... ORPHA:261476
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Abnormality of the pulmonary artery, Hypercholesterolemia, Abnormal intrahe... ORPHA:363618
Aceruloplasminemia
Increased circulating ferritin concentration, Abnormal pancreas morphology, Aceruloplasminemia, D... ORPHA:48818
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Annular pancreas, Overlapping toe, Clinodactyly of the 5th finger, Microretrognathia, Small hand,... ORPHA:488642
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Micrognathia, Slender long bone, Upper limb undergrowth, Abnormal lung lobati... ORPHA:369837
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Neoplasm of the liver, Hyperlipidemia, Hepatomegaly, Increased LDL cholesterol co... ORPHA:77293
Mandibuloacral Dysplasia Progeroid Syndrome
Decreased fibular diameter, Hepatomegaly, Micrognathia, Elevated hemoglobin A1c, Short femoral ne... OMIM:619127
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... OMIM:274000
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase OMIM:604484
Acrorenal-Mandibular Syndrome
Absent nipple, Split foot, Hypoplasia of the radius, Micrognathia, Hand polydactyly, Rudimentary ... OMIM:200980
Occipital Horn Syndrome
Coxa vara, Large iliac wing, Coxa valga, Jaundice, Aplasia/hypoplasia of the humerus, Abnormality... ORPHA:198
Hydrolethalus Syndrome 1
Talipes equinovarus, Micrognathia, Accessory spleen, Proximal tibial hypoplasia, Upper limb under... OMIM:236680
Phocomelia, Schinzel Type
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hand oligodactyly, Hypoplasia of the radius, Mi... ORPHA:2879
Trisomy 8P
Annular pancreas, Short fifth metatarsal, Overlapping toe, Clinodactyly of the 5th finger, Periph... ORPHA:264450
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Recurrent lower respiratory tract infe... ORPHA:86816
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Sialadenitis, Hypocalcemia, Euthyroid goiter, Pancreatic fibr... ORPHA:64744
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Micrognathia, Sho... OMIM:211350
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones OMIM:114000
Alagille Syndrome 1
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Exocrine pancreatic insuffi... OMIM:118450
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... ORPHA:567983
Bohring-Opitz Syndrome
Overlapping toe, Short toe, Dislocated radial head, Deep plantar creases, Supernumerary nipple, M... OMIM:605039
Fibrochondrogenesis 1
Short palm, Clinodactyly of the 5th finger, Narrow greater sciatic notch, Short ribs, Small hand,... OMIM:228520
Glycogen Storage Disease Ib
Hyperlipidemia, Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular car... OMIM:232220
Hereditary Chronic Pancreatitis
Elevated circulating C-reactive protein concentration, Pancreatic calcification, Jaundice, Recurr... ORPHA:676
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Pancreatitis, Hepatomegaly, Increased hepatic glycogen content, Hepatocellular ca... ORPHA:79259
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Talipes equinovarus, Hepatomegaly, Steatorrhea, Pancreatic fibrosis, Abnormal foot morphology, He... OMIM:616263
Boomerang Dysplasia
Hypoplastic iliac body, Fibular aplasia, Absent radius OMIM:112310
Acromelic Frontonasal Dysplasia
Talipes equinovarus, Cryptorchidism, Aplasia/Hypoplasia of the tibia, Hypopituitarism, Patellar h... ORPHA:1827
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Steatorrhea, Hepatosplenomegaly, Hypertriglyceridemia, Hepatic ... ORPHA:275761
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Long foot, Acute pancreatitis, Large hands, Hypertriglycer... OMIM:608594
Campomelia, Cumming Type
Hepatomegaly, Brachydactyly, Micromelia, Abnormality of the pancreas, Bowing of the long bones, C... ORPHA:1318
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hemoglobin A1c, Long foot, Acute pancreatitis, La... OMIM:269700
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Metaphyseal chondrodysplasia, Femoral bowing, Fibular bowing, Aplasia/Hypoplasia o... ORPHA:85165
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Splenomegaly, Hepatosplenomegaly, ... ORPHA:167
Schneckenbecken Dysplasia
Hypoplastic vertebral bodies, Cryptorchidism, Short ribs, Increased fibular diameter, Hypoplastic... ORPHA:3144
Feingold Syndrome 1
Annular pancreas, Short toe, 2-3 toe syndactyly, Micrognathia, Accessory spleen, Aplasia/Hypoplas... OMIM:164280
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Camptodactyly ... OMIM:256040
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification OMIM:608189
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Hepatomegaly, Cholecystitis, Abnormal circulating creatine kinase concentra... ORPHA:98908
Primary Lipodystrophy
Hyperlipidemia, Pancreatitis, Splenomegaly, Cirrhosis, Polycystic ovaries, Hepatic steatosis ORPHA:90970
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic cysts, Pulmonary hypoplasia, Portal hype... OMIM:263200
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hyperproteinemia, Hyper... ORPHA:158048
19P13.12 Microdeletion Syndrome
Clinodactyly of the 5th finger, Toe clinodactyly, Deep plantar creases, Cryptorchidism, Hyperlipi... ORPHA:254346
Renal Dysplasia-Limb Defects Syndrome
Aplasia of the ulna, Short sternum, Talipes equinovarus, Short metacarpal, Short ribs, Hypoplasia... OMIM:266910
Griscelli Syndrome Type 2
Hyperlipidemia, Hepatomegaly, Jaundice, Splenomegaly ORPHA:79477
Werner Syndrome
Hypertriglyceridemia, Elevated hemoglobin A1c OMIM:277700
Campomelic Dysplasia
Small abnormally formed scapulae, Tibial bowing, Talipes equinovarus, Femoral bowing, Micrognathi... ORPHA:140
Gaisböck Syndrome
Hyperproteinemia, Increased circulating renin level, Cholecystitis, Hypertriglyceridemia, Hyperur... ORPHA:90041
Kaposiform Lymphangiomatosis
Abnormality of femur morphology, Splenomegaly, Fractures of the long bones, Abnormal spleen morph... ORPHA:464329
Wiedemann-Rautenstrauch Syndrome
Talipes equinovarus, Short femur, Hypoplastic ilia, Micrognathia, Short humerus, Hypoplasia of th... OMIM:264090
Atypical Werner Syndrome
Ovarian neoplasm, Calf muscle hypertrophy, Micrognathia, Finger clinodactyly, Neoplasm of the lun... ORPHA:79474
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypoplasia of the radius, Femoral bowing, Aplasia/Hypoplasia of the phalanges of the hand, Carpal... OMIM:276820
Senior-Loken Syndrome 8
Pancreatic cysts, Polydactyly, Intrahepatic bile duct dilatation, Hepatic cysts OMIM:616307
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short distal phalanx of finger, Hyperlipidemia, Aplasia/Hypoplasia of the clavicles, Micrognathia... ORPHA:90154
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Hepatomegaly, Jaundice, Elevated circulating C-reactive protein concentration, Chole... OMIM:619573
Campomelic Dysplasia
Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Bowing of the long bones, Anterior tibial... OMIM:114290
Meckel Syndrome
Micrognathia, Pancreatic fibrosis, Accessory spleen, Congenital hepatic fibrosis, Postaxial hand ... ORPHA:564
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Short clavicles, Hyperlipidemia, Hepatomegaly, Micrognathia, Down... OMIM:248370
Tangier Disease
Hypocholesterolemia, Hypertriglyceridemia, Hepatosplenomegaly ORPHA:31150
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Splenomegaly, Hepatosplenomegaly, Fulminant hepatit... ORPHA:2442
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Absent testis, Micrognathia, Preaxial hand po... ORPHA:2753
Jacobsen Syndrome
Annular pancreas, Long hallux, Short toe, Toe clinodactyly, Recurrent respiratory infections, Bro... ORPHA:2308
Meckel Syndrome, Type 7
Hepatosplenomegaly, Cholestasis, Postaxial foot polydactyly, Portal hypertension, Bile duct proli... OMIM:267010
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Short toe, Hypocalcemia, Hepatomegaly, Short ribs, Short humerus,... OMIM:218330
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Talipes equinovarus, Cryptorchidism, Small hand, Micrognathia, Congenital hip d... OMIM:268400
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Hepatomegaly, Hypoplasia of the capital femor... OMIM:266920
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Sialadenitis, Abnormal salivary gland morphology, Abnormality of th... ORPHA:449432
Fanconi Anemia, Complementation Group D2
Annular pancreas, Absent thumb, Partial duplication of thumb phalanx, Absent radius, Short thumb,... OMIM:227646
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Lipodystrophy, Familial Partial, Type 7
Pulmonary arteriovenous malformation, Hypertriglyceridemia, Recurrent pancreatitis, Pleural effus... OMIM:606721
Distal Monosomy 12Q
Annular pancreas, Overlapping toe, Pituitary adenoma, Clinodactyly of the 5th finger, 2-3 toe syn... ORPHA:96149
Alveolar Echinococcosis
Jaundice, Abnormal spleen morphology, Hepatic cysts, Liver abscess, Pedal edema, Portal hypertens... ORPHA:284
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hydrocele testis, Hyperlipidemia, Pedal edema, Hypoalbuminemia, Respiratory tract infection, Pleu... ORPHA:567546
Jacobsen Syndrome
Annular pancreas, Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Missing ribs, Cryp... OMIM:147791
Mandibuloacral Dysplasia With Type B Lipodystrophy
Short clavicles, Hyperlipidemia, Micrognathia, Acroosteolysis of distal phalanges (feet), Short p... OMIM:608612
Pearson Syndrome
Hypoparathyroidism, Exocrine pancreatic insufficiency, Hypomagnesemia, Hepatomegaly, Decreased re... ORPHA:699
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Hyperlipidemia, Aplasia/Hypoplasia of the clavicles, Acroosteolys... ORPHA:90153
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Pulmonary hypoplasia, Spontaneous pneumothorax, ... ORPHA:731
Fryns Syndrome
Short distal phalanx of finger, Microretrognathia, Chylothorax, Prominent fingertip pads, Ectopic... OMIM:229850
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Hy... ORPHA:189427
Schinzel-Giedion Syndrome
Short distal phalanx of finger, Overlapping toe, Tibial bowing, Annular pancreas, Hepatoblastoma,... ORPHA:798
Wiedemann-Rautenstrauch Syndrome
Hypoplastic vertebral bodies, 2-3 toe syndactyly, Decreased response to growth hormone stimulatio... ORPHA:3455
Aromatase Deficiency
Delayed epiphyseal ossification, Hyperlipidemia, Genu valgum, Macroorchidism, postpubertal, Crypt... ORPHA:91
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hyperbilirubinemia, Steatorrhea, Pancreatic fibr... OMIM:557000
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic calcifica... ORPHA:157
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Hyperlipidemia ORPHA:2089
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hyperammonemia, H... ORPHA:228308
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Hepatic ... OMIM:610199
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Micrognathia, Pulmonary lymphangiectasia, Abnormal lung lobation, Misalignment ... OMIM:265380
Aapoaiv Amyloidosis
Abnormal lung morphology, Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Familial Multiple Lipomatosis
Hyperlipidemia, Bowing of the long bones ORPHA:199276
Glycogen Storage Disease Ia
Hyperlipidemia, Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Hyperuricemia, Xanthelasma OMIM:232200
Charge Syndrome
Hypoparathyroidism, Absent tibia, Hypocalcemia, Decreased response to growth hormone stimulation ... OMIM:214800
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Hyper... ORPHA:93111
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Metacarpophalangeal joint contracture, Micrognathia, Recurrent ... ORPHA:97297
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Absent gallbladder, Asplenia ORPHA:210122
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, Short sternum, Talipes equinovarus, Short metacarpal, Short ribs,... ORPHA:3404
Pancreatic Agenesis-Holoprosencephaly Syndrome
Hypoamylasemia, Pancreatic aplasia, Absent gallbladder, Aplasia/Hypoplasia of the phalanges of th... ORPHA:556955
Glycogen Storage Disease Ic
Chronic pancreatitis, Hyperlipidemia, Hepatomegaly, Hepatoblastoma, Hepatocellular carcinoma, Hyp... OMIM:232240
Primary Pigmented Nodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Hy... ORPHA:189439
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Pheochromocytoma, Hepatic hemangioma, Pulmonary capil... OMIM:193300
Camptodactyly Syndrome, Guadalajara, Type I
Absent ethmoidal sinuses, Short metatarsal, Camptodactyly of 2nd-5th fingers, Brachydactyly, Shor... OMIM:211910
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Clinodactyly of the 5th finger, Micrognathia, Syndactyly, Cryptorchidism, Hip d... OMIM:616975
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Hepatomegaly, Pancreatitis, Abnormality of the calf musculature, Splenomegaly, El... ORPHA:565612
1P36 Deletion Syndrome
Annular pancreas, Clinodactyly of the 5th finger, Camptodactyly of finger, Brachydactyly, 11 pair... ORPHA:1606
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Hepatoblastoma, Cr... ORPHA:116
Alström Syndrome
Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hyoplasia of the Leydig cells, Testicular ... ORPHA:64
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Turner Syndrome Due To Structural X Chromosome Anomalies
Short sternum, Irregular proximal tibial epiphyses, Abnormal forearm bone morphology, Genu valgum... ORPHA:99413
Turner Syndrome
Short sternum, Irregular proximal tibial epiphyses, Abnormal forearm bone morphology, Genu valgum... ORPHA:881
Mosaic Monosomy X
Short sternum, Irregular proximal tibial epiphyses, Abnormal forearm bone morphology, Genu valgum... ORPHA:99228
Monosomy X
Short sternum, Irregular proximal tibial epiphyses, Abnormal forearm bone morphology, Genu valgum... ORPHA:99226
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Adrenocorticotropic hormone deficiency, Hyperlipidemia, Decreased response to growth hormone stim... ORPHA:293987
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Hyperlipidemia, Decreased testicu... OMIM:241080
Woodhouse-Sakati Syndrome
Hyperlipidemia, Decreased response to growth hormone stimulation test, Decreased testicular size,... ORPHA:3464
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Hepatic steatosis, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:391665

Histopathology

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

There is no histopathology data for Raly

IMPC related publications

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

No publications found that use IMPC mice or data for Raly.

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MGI Allele Allele Type Produced
Ralyem2(IMPC)Tcp Exon Deletion Mice, Tissue

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