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Gene: Zc3h8 MGI:1930128

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Gene Summary

Name:
zinc finger CCCH type containing 8
Synonyms:
Fliz1,  E130108N08Rik

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
embryonic lethality prior to tooth bud stage Zc3h8em1(IMPC)Ccpcz HOM   E12.5 0.00
abnormal spleen morphology Zc3h8em1(IMPC)Ccpcz HET Early adult 0.00
lordosis Zc3h8em1(IMPC)Ccpcz HET   Early adult 3.61×10-06
abnormal auditory brainstem response Zc3h8em1(IMPC)Ccpcz HET   Early adult 4.79×10-05
embryonic lethality prior to organogenesis Zc3h8em1(IMPC)Ccpcz HOM   E9.5 0.00
enlarged heart Zc3h8em1(IMPC)Ccpcz HET Early adult 0.00
decreased CD8-positive, naive alpha-beta T cell number Zc3h8em1(IMPC)Ccpcz HET Early adult 4.09×10-06
enlarged liver Zc3h8em1(IMPC)Ccpcz HET Early adult 0.00
preweaning lethality, complete penetrance Zc3h8em1(IMPC)Ccpcz HOM   Early adult 0.00
enlarged spleen Zc3h8em1(IMPC)Ccpcz HET Early adult 0.00
abnormal kidney morphology Zc3h8em1(IMPC)Ccpcz HET Early adult 0.00
abnormal digit morphology Zc3h8em1(IMPC)Ccpcz HET Early adult 1.83×10-08
abnormal liver morphology Zc3h8em1(IMPC)Ccpcz HET Early adult 0.00
single kidney Zc3h8em1(IMPC)Ccpcz HET Early adult 0.00
enlarged kidney Zc3h8em1(IMPC)Ccpcz HET Early adult 0.00
abnormal heart morphology Zc3h8em1(IMPC)Ccpcz HET Early adult 0.00
abnormal skin morphology Zc3h8em1(IMPC)Ccpcz HET Early adult 0.00
increased circulating total protein level Zc3h8em1(IMPC)Ccpcz HET Early adult 8.85×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Forepaw

16 Images

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Human diseases caused by Zc3h8 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 Zc3h8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... OMIM:619902
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Sensorineural hearing impairment, Anemia ORPHA:294
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Ureteral atres... OMIM:618845
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... OMIM:615382
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In... ORPHA:158048
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... OMIM:613496
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... OMIM:618167
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia OMIM:606664
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Abno... ORPHA:29073
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... OMIM:615415
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, Unilateral renal agenesis, Chronic kidney disease, Hemivertebrae, Renal hypoplasia, V... OMIM:617661
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619874
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... ORPHA:2501
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... ORPHA:40
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated ci... OMIM:614576
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Renal agenesis, Abnormal heart morphology, Upper limb phocomelia, Abnormal cardiac se... ORPHA:294975
Gaisböck Syndrome
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Nephroca... ORPHA:90041
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm... ORPHA:85445
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Unilateral renal... OMIM:618142
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Portal hypertension, Unilateral r... OMIM:216360
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Malformation of the hepatic ducta... OMIM:208540
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Hand polydactyly, Aganglionic megacolon, Unilateral renal agenesis, Hearing impairment OMIM:235740
Meckel Syndrome, Type 8
Short neck, Pericardial effusion, Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, ... OMIM:613885
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Macrovesi... OMIM:608836
Kaposiform Lymphangiomatosis
Abnormal femur morphology, Abnormal form of the vertebral bodies, Abnormality of the cervical spi... ORPHA:464329
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Abn... ORPHA:750
Mucopolysaccharidosis-Plus Syndrome
Short neck, Metaphyseal widening, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic steatosis, ... OMIM:617303
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sho... OMIM:300718
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Prominent fingertip pads, Ventricular septal defect, Overlapping toe, Unilateral renal agenesis, ... OMIM:618494
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Ethanolaminosis
Cardiomegaly OMIM:227150
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Flattened epiphysis, Ul... OMIM:222600
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Bicuspid aortic valve, Unilateral renal agenesis, Anemia of inadequate pr... OMIM:614900
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Sandal gap, Single transverse palmar crease, Unilateral renal agenesis, Rocker bot... OMIM:619951
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Irregular vertebral endplates,... OMIM:609223
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Dil... ORPHA:206546
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn... ORPHA:1802
Myosclerosis, Autosomal Recessive
Lumbar hyperlordosis, Facial palsy, Thoracolumbar scoliosis, Elevated circulating creatine kinase... OMIM:255600
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the... ORPHA:429
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga... OMIM:620010
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Elb... OMIM:600175
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Enlarged epiphyses, Abnormal circulating C-reactive protein con... ORPHA:1159
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Lumbar hyperlordosis, Micromelia, Short neck, Splenomegaly, Delayed epiphyseal ossi... OMIM:602557
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Broad radial meta... ORPHA:99642
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Urethral ... OMIM:314390
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Tal... OMIM:601382
Crisponi/Cold-Induced Sweating Syndrome 2
Lumbar hyperlordosis, Thoracolumbar scoliosis, 2-3 toe syndactyly, Protruding ear, Cubitus valgus... OMIM:610313
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Os odontoideum, Hand muscle atrophy, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxi... OMIM:600561
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Short neck, Splenomegaly, Panc... OMIM:235255
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Sensorineural hearing impairment, Aminoaciduria, Galactosur... OMIM:230350
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c... OMIM:602088
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Short neck, Splenomegaly, Pancreatic lymphangiectasis, A... ORPHA:1655
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... OMIM:609616
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Anterior beaking of lu... OMIM:253000
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Isolated Glycerol Kinase Deficiency
EEG abnormality, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis ORPHA:408
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Hepatomegaly, Hyperl... OMIM:226980
Myopathy, Distal, 1
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Left atrial enlargement... OMIM:160500
Mucolipidosis Type Iii
Abnormal heart valve morphology, Hyperlordosis, Abnormal form of the vertebral bodies, Abnormal a... ORPHA:577
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Elevated circulating creatine kinase concentration, Limited elbow mov... OMIM:300280
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res... OMIM:608022
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Hypoplasia of the femoral head, Ovoid vertebral bodies, Thoracolumbar kyph... OMIM:617396
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Cog7-Cdg
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:79333
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Abnormal pinna morphology, Micromelia, Short neck, Postaxial h... OMIM:200995
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis, Short distal phalanx of... OMIM:601355
Burn-Mckeown Syndrome
Ventricular septal defect, Unilateral renal agenesis, Conductive hearing impairment, Renal hypopl... OMIM:608572
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Tyrosinemia, Type I
Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato... OMIM:276700
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... OMIM:306955
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Sensorin... ORPHA:93476
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Unilateral renal agenesis, 2-3 toe ... ORPHA:3306
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Epiphyseal dysplasia, Metaphyseal dysplasia, Posteriorly rotated ears, Elevated cir... OMIM:614727
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... OMIM:613313
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ... OMIM:269920
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Hyperlordosis, Sensorineural hearing impairment, Nephrotic syndrome, Abnormal mitral... ORPHA:1192
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro... ORPHA:63446
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... ORPHA:730
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Micromelia, Short neck, Increased interverte... OMIM:256050
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria, Abnormal metaphysis morphology ORPHA:417
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Klippel-Feil Syndrome 1, Autosomal Dominant
Mixed hearing impairment, Abnormality of the kidney, Unilateral renal agenesis, Short neck, Senso... OMIM:118100
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widen... ORPHA:93352
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Nephroblastoma, Enlarged kidney OMIM:618272
Leptospirosis
Hepatomegaly, Pericarditis, Papilledema, Cellular urinary casts, Jaundice, Hepatitis, Lymphadenop... ORPHA:509
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, Th... OMIM:603553
Absence Deformity Of Leg-Cataract Syndrome
Hyperlordosis, Abnormal femur morphology, Abnormal epiphysis morphology, Lower limb undergrowth, ... ORPHA:2310
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Scapular winging, Lumbar hyperlordosis, Narrow pelvis bone, Scoliosis OMIM:602484
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Absent middle... OMIM:308050
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Clubbing, Iron deficiency anemia, Clubbing of fingers, Hypoalbuminemia, Thrombocyto... OMIM:226300
Sandhoff Disease
Splenomegaly, Kyphosis, Hearing impairment, Hepatomegaly ORPHA:796
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sco... OMIM:617404
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Short digit, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wideni... OMIM:613091
Braddock Syndrome
Posteriorly rotated ears, Unilateral renal agenesis, Short neck, Preaxial hand polydactyly, Hemiv... ORPHA:52047
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Abnormality of the hand, Hyperlordosis, Short neck, Kyphosis... OMIM:252605
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Elevated circulating creatine kinase concentration, Hyperlordo... OMIM:615290
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... ORPHA:882
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Mulchandani-Bhoj-Conlin Syndrome
Posteriorly rotated ears, Hyperlordosis, 2-3 toe syndactyly, Horseshoe kidney, Scoliosis, Clinoda... OMIM:617352
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa... OMIM:251450
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Cardiomegaly, Metaphyseal widening, Hepatomegaly, Thoracolum... OMIM:252500
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul... OMIM:232220
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Hearing impairment, Splenomegaly, ... OMIM:619658
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Metaphyseal widening, Chondroitin sulfate excretion in u... OMIM:253010
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Abnormality of the vertebral column, C... OMIM:601076
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Secundum atrial septal defect, Glome... ORPHA:2260
Hogue-Janssen Syndrome 2
Broad hallux, Unilateral renal agenesis, Postaxial polydactyly, Hip dysplasia, Scoliosis, Deviati... OMIM:616362
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Isolated Polycystic Liver Disease
Back pain, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cy... ORPHA:2924
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Posteriorly rotat... OMIM:619980
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha... OMIM:177170
Nephrotic Syndrome, Type 22
Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo... OMIM:619155
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Radial-Renal Syndrome
Unilateral renal agenesis, Absent thumb, Absent radius, External ear malformation, Ectopic kidney OMIM:179280
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... ORPHA:363444
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid process, Cli... OMIM:184250
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Elevated circulating creatine kinase concentration, Facial palsy, Hyperlordosis, Hip dislocation,... OMIM:613156
Emanuel Syndrome
Sacral dimple, Recurrent urinary tract infections, Truncus arteriosus, Ventricular septal defect,... OMIM:609029
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hypomethioninemia, Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic aciduria, Abnor... ORPHA:79284
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Hypercalcemia, Hyperlordosis, Conductive hearing impairment, Sensorineural... ORPHA:557003
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Scoliosis... OMIM:615761
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short neck, Leukopenia, Thoracic kyphosis, Hypoalbuminemia, Atrial septal defect, Patent foramen ... ORPHA:505248
Masa Syndrome
Kyphosis, Adducted thumb, Talipes equinovarus, Hyperlordosis OMIM:303350
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Takenouchi-Kosaki Syndrome
Hypospadias, Overlapping toe, Increased mean platelet volume, Unilateral renal agenesis, Proximal... OMIM:616737
Citrullinemia Type Ii
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Joint contracture of the hand, Talipes equinovarus, Scoliosis, Hyperlordosis OMIM:611067
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Bardet-Biedl Syndrome 19
Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricu... OMIM:615996
Adams-Oliver Syndrome 6
Syndactyly, Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepat... OMIM:616589
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology,... ORPHA:90362
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... OMIM:271650
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Kyphosis, Sensorineural hearing impairment, Hip dislocation, Talipes equino... OMIM:616756
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hand muscle weakness, Hip dysplasia, Shoulder girdle muscle weakness, Hyperlordosis ORPHA:363454
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadeno... ORPHA:858
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Scapular winging, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordo... ORPHA:267
Rigid Spine Syndrome
Hip contracture, Hyperlordosis, Spinal rigidity, Elbow flexion contracture, Scoliosis ORPHA:97244
Johanson-Blizzard Syndrome
Hypoplasia of penis, Hypospadias, Dextrocardia, Abnormality of the pancreas, Sensorineural hearin... ORPHA:2315
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis, Scoliosis, EEG abnormality OMIM:619504
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration ORPHA:280333
Shashi-Pena Syndrome
Short metacarpal, Posteriorly rotated ears, Unilateral renal agenesis, Kyphosis, Cupped ear, Deep... OMIM:617190
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... ORPHA:457395
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Scapular winging, Thoracic scoliosis, Elevated circulating creatine kinase concentration, Hyperlo... ORPHA:62
Holzgreve Syndrome
Renal agenesis, Hypoplastic left heart, Renal hypoplasia, Hand polydactyly OMIM:236110
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachydactyly, Hyperlordosis, Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal... ORPHA:2511
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing, Lung abscess, Decreased circulating beta-2-microglobulin l... OMIM:241600
Acrodysostosis 1 With Or Without Hormone Resistance
Short metacarpal, Brachydactyly, Unilateral renal agenesis, Hearing impairment, Neonatal epiphyse... OMIM:101800
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... OMIM:603552
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Increased... ORPHA:398063
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Coloboma Of Macula With Type B Brachydactyly
Type B brachydactyly, Renal agenesis, Bifid distal phalanx of the thumb, Absent distal phalanges,... OMIM:120400
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Kyphoscoliosis, Hyperlordosis, Coxa valga, Advanced ossification of carpal bones... OMIM:618363
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Splenomegaly, Proximal femoral metaphyseal irregularity, Optic atrophy, Coxa vara, Pl... OMIM:602271
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... ORPHA:100024
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Hyposp... OMIM:301045
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Scapular winging, Abnormal pinna... ORPHA:26791
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumbar... OMIM:252920
Familial Anetoderma
Abnormal tibia morphology, Lumbar hyperlordosis ORPHA:228277
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp... OMIM:256300
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia, Bilateral single transverse palmar ... ORPHA:1116
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Macrotia, Ventricular septal defect, Unilateral renal agenesis OMIM:618504
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Spinal rigidity, Hyperlordosis, Dilated cardiomyopathy, Scoliosis, Mildly elevated ... OMIM:161800
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... OMIM:614876
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi... ORPHA:175
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Distal Deletion 17Q
Low-set, posteriorly rotated ears, Hepatomegaly, Aplasia/Hypoplasia of the thumb, Micromelia, Abn... ORPHA:1597
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused cervical verte... ORPHA:2522
Mucopolysaccharidosis, Type X
Thickened aortic valve cusp, Hyperlordosis, Nephrolithiasis, Dermatan sulfate excretion in urine,... OMIM:619698
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Hyperlordosis, Cranial nerve compression, Abn... ORPHA:52430
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Tibial bowing, Protruding ear, Spina bifida occulta, Long hallux, Multicys... ORPHA:500095
Camurati-Engelmann Disease
Abnormal tibia morphology, Abnormal femur morphology, Leukopenia, Cortical thickening of long bon... ORPHA:1328
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst, Epiphyseal stippling, Decreased liver function, Low-set ears OMIM:614870
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria ORPHA:79238
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Finger joint hypermobility, Unilateral renal agenesis, Hearing impairment OMIM:244200
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Abnormal macrophage morphology, Lumbar hyperlordosis, Elevated circulating crea... ORPHA:353
Branchiootorenal Syndrome 1
Renal malrotation, Mixed hearing impairment, Congenital hip dislocation, Facial palsy, Unilateral... OMIM:113650
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Cardiomyopathy, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Spinal ... OMIM:609308
Emanuel Syndrome
Sacral dimple, Congenital hip dislocation, Truncus arteriosus, Ventricular septal defect, Kyphosc... ORPHA:96170
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester... OMIM:232700
Short Stature, Microcephaly, And Endocrine Dysfunction
Lymphopenia, Unilateral renal agenesis, Ectopic kidney, Clinodactyly, Dilated cardiomyopathy, Sen... OMIM:616541
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Increased intervertebral space, T lymphocytopenia, Narrow greater sciatic... ORPHA:508533
Dengue Fever
Hepatomegaly, Leukopenia, Ascites, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis, Acute leukemia ORPHA:281090
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Erlenmeyer flask deformit... OMIM:610539
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly, Optic atrophy OMIM:611721
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... OMIM:610717
Congenital Myopathy 16
Scapular winging, Lumbar hyperlordosis, Scoliosis, Spinal rigidity OMIM:618524
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Smith-Mccort Dysplasia 2
Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Hyperlordosis, Short neck,... OMIM:615222
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Abnormal form of the vertebral bodies... ORPHA:2831
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Scoliosis OMIM:619042
Striatonigral Degeneration, Childhood-Onset
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:617054
Roifman Syndrome
Hepatomegaly, Biconvex vertebral bodies, Noncompaction cardiomyopathy, Ventricular septal defect,... OMIM:616651
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Foot oligodactyly, Triphalangeal thumb, Conductive hearing impai... OMIM:154400
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormal acetabulum morpholog... OMIM:618641
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Thoracomelic Dysplasia
Hyperlordosis, Elbow dislocation, Short neck, Abnormal fibula morphology, Genu valgum, Abnormal p... ORPHA:1803
Smith-Lemli-Opitz Syndrome
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cyst, Hypoalbuminemi... OMIM:270400
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, H... OMIM:232200
Nager Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Hy... ORPHA:245
Hypochondroplasia
Widened interpedicular distance, Lumbar hyperlordosis, Brachydactyly, Flared metaphysis, Short lo... OMIM:146000
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scapular winging, Ventricular septal defect, Single transverse palmar crease, Micromelia, Hyperlo... OMIM:618870
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Ectopic kidney, Anteverted ears, Thickened helices, Vesicoureteral reflux, Micropenis, Renal hypo... OMIM:617641
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:605911
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Lumbar hyperlordosis, Patellar hypoplasia, Short femoral neck, Broad femora... OMIM:609325
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly, Abnormal limb bone morphology, Abnormality of the urinary system, Lim... ORPHA:2204
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... OMIM:616860
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Sandal gap, Renal hypoplasia/aplasia, Splenomegaly, Abnormality... ORPHA:1046
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... OMIM:255120
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Short neck, Renal hypoplasia, Cutaneous syndactyly, Ur... OMIM:617666
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Micromelia, Bowing of the le... OMIM:608728
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c... ORPHA:268
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia OMIM:602079
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... OMIM:214900
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hepatomegaly, Elevated hepatic transaminase, Ventricular septal defect, Elevated... ORPHA:26793
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia OMIM:207731
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Dilated cardiomyopathy,... OMIM:602390
Myopathic Ehlers-Danlos Syndrome
Shoulder flexion contracture, Kyphoscoliosis, Hyperlordosis, Tapered finger, Kyphosis, Elbow flex... ORPHA:536516
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Posteriorly rotated ears, Single transverse palmar crease, Unilateral renal age... OMIM:618419
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Hyperlipidem... ORPHA:369
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Hyperlordosis, ... ORPHA:169186
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent urinary tract infections, Optic nerve hypoplasia, Unilateral renal agenesis, Hyperlordo... ORPHA:221139
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,... OMIM:137920
Joubert Syndrome 37
Hepatomegaly, Lumbar hyperlordosis, Posteriorly rotated ears, Postaxial polydactyly, Low-set ears... OMIM:619185
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Chronic kidney... OMIM:615630
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Hyperlordosis, Right ventricular dilatation, Abnorma... ORPHA:369840
Ck Syndrome
Posteriorly rotated ears, Hyperlordosis, Kyphosis, Scoliosis, Abnormal digit morphology OMIM:300831
Schwartz-Jampel Syndrome, Type 1
Congenital hip dislocation, Cervical kyphosis, Elevated circulating creatine kinase concentration... OMIM:255800
Steel Syndrome
Carpal synostosis, Lumbar hyperlordosis, Sensorineural hearing impairment, Hip dislocation, Coxa ... OMIM:615155
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hallux valgus, Thoracic kyphoscoliosis, Hepatomegaly, Lumbar hyperlordosis, Pancytopenia, Single ... OMIM:613385
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Spinal rigidity, Cardio... ORPHA:86812
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Femoral bowing, Vesicoureteral reflux, Conductive hearing impairment, Abnormality of the wrist, M... ORPHA:95699
Hyperparathyroidism, Transient Neonatal
Short femur, Metaphyseal spurs, Unilateral renal agenesis, Femoral bowing, Short long bone, Low-s... OMIM:618188
Hemihyperplasia-Multiple Lipomatosis Syndrome
Macrodactyly, 2-4 toe syndactyly, Abnormality of the lymphatic system, Microtia, Foot polydactyly... ORPHA:276280
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Ascites, Increased to... ORPHA:890
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Short neck, Elbow dislocation, Hypoplas... OMIM:264180
Congenital Disorder Of Glycosylation, Type Ij
Elevated hepatic transaminase, Single transverse palmar crease, Jaundice, Hypsarrhythmia, Clinoda... OMIM:608093
Ck Syndrome
Long toe, Lumbar hyperlordosis, Posteriorly rotated ears, Kyphoscoliosis, Long fingers, Abnormal ... ORPHA:251383
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... OMIM:618963
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Alaninuria, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated c... OMIM:615158
Fucosidosis
Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly,... OMIM:230000
Endocrine-Cerebroosteodysplasia
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Hypospadias, Single transverse palm... OMIM:612651
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... OMIM:271500
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Increased vertebral height, Sensorineural ... OMIM:616817
Cutis Laxa, Autosomal Recessive, Type Iie
Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Hearing impairment, Hip ... OMIM:619451
H Syndrome
Hallux valgus, Hypertriglyceridemia, Abnormality of the kidney, Hearing impairment, Microcytic an... ORPHA:168569
Dna2-Related Mitochondrial Dna Deletion Syndrome
Elevated creatine kinase after exercise, Hyperlordosis ORPHA:352470
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Lumbar hyperlordo... ORPHA:435387
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating fe... OMIM:235200
Renal Agenesis
Renal insufficiency, Renal agenesis, Ventricular septal defect, Unilateral renal agenesis, Protei... ORPHA:411709
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... ORPHA:79301
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Alg9-Cdg
Short neck, Right ventricular dilatation, Large fleshy ears, Abnormal left ventricular outflow tr... ORPHA:79328
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Lumb... OMIM:602875
Anauxetic Dysplasia 1
Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Hypoplastic ilia, Short toe, Limit... OMIM:607095
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Mucopolysaccharidosis Type 4
Bowing of the long bones, Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, C... ORPHA:582
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated... OMIM:212140
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia ORPHA:172
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Coxa vara, Tibial bowing, Protruding ear, Iron deficiency anemia, Hypoplastic iliac w... ORPHA:93315
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Abnormal ... ORPHA:3109
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... ORPHA:158057
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... OMIM:223800
Cardiac-Urogenital Syndrome
Accessory spleen, Cor triatrium sinister, Penoscrotal hypospadias, Ventricular septal defect, Dex... OMIM:618280
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Chromosome 17Q12 Deletion Syndrome
Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent... OMIM:614527
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Hepatomegaly, Multifocal epileptiform discharges, Cardiomyopathy OMIM:608540
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Syndactyly, Anisocytosis, Anemia of inadequate production, Splenom... OMIM:615631
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Low-frequency s... OMIM:613101
Nemaline Myopathy 5C, Autosomal Dominant
Scapular winging, Shoulder girdle muscle weakness, Scoliosis, Hyperlordosis OMIM:620389
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s... OMIM:616648
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Hyperalaninemia, Increased urine succinate level, Elevated... OMIM:619048
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Peric... ORPHA:167
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Optic atrophy, Hyperammonemia, Anemia, Cardiomyo... ORPHA:79312
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Scapular winging, Elevated circulating creatine kinase concentration, Hyperlordosis OMIM:618129
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Hypospadias, Overlapping toe, Increased mean platelet volume, ... ORPHA:487796
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Exercise-ind... OMIM:607155
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Thoracolumbar scoliosis, Broad h... OMIM:618019
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter... ORPHA:90324
3M Syndrome
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Hypospadias, Rocker bottom ... ORPHA:2616
Cutis Laxa, Autosomal Dominant 3
Os odontoideum, Unilateral renal agenesis, Hip dislocation, Protruding ear, Talipes equinovarus, ... OMIM:616603
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Hypocalcemia, Elevat... OMIM:619991
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Talipes equinovarus, Hepatic failure, Hepatic bridg... OMIM:616719
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Hyperlordosis OMIM:607088
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia ORPHA:100025
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Short neck, Pericardial effusion, Kyphosis, Hip dislocation, Hepatosplenomegaly, Ab... OMIM:608776
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Coxa vara, Mitral va... ORPHA:2848
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Horsesh... OMIM:613680
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a... OMIM:121300
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscol... ORPHA:3041
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Shoulder girdle muscle weakness, Patent foramen ovale, Elevated circulating creatine kinase conce... OMIM:615156
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Abnormal autonomic nervous system physiology, Nephropathy, Abnormal... ORPHA:85447
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Unilateral renal agenesis, Muscular ventricular septal defect, Fused cervical ver... OMIM:619227
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo... OMIM:608978
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Optic disc pallor, Toe syndactyly, Ventricular septal defect, Hypospadias, Unilate... ORPHA:464306
Gm1 Gangliosidosis
Ventricular septal defect, Camptodactyly of finger, Hyperlordosis, Kyphosis, Splenomegaly, Optic ... ORPHA:354
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Posteriorly rotated ears, Hyperlordosis, Small ... OMIM:617450
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Pro... OMIM:613404
Achondroplasia
Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Hearing impairment, Bowing of the legs, Hip join... ORPHA:15
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Pancreatic h... OMIM:602782
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Scapular winging, Lumbar hyperlordosis, Elevated circulating creatine kinase concentra... OMIM:167320
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis OMIM:619966
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Small hand, Genu valgum, Short fo... OMIM:618443
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... OMIM:603903
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hypoplasia of the ear c... ORPHA:66661
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... ORPHA:75234
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Postaxial h... OMIM:607361
Cataract-Intellectual Disability-Hypogonadism Syndrome
Low-set, posteriorly rotated ears, Abnormal distal phalanx morphology of finger, Abnormality of t... ORPHA:1387
Schimke Immuno-Osseous Dysplasia
Short neck, Neutropenia, Nephropathy, Nephrotic range proteinuria, Lumbar hyperlordosis, Minimal ... ORPHA:1830
Microphthalmia, Lenz Type
Low-set, posteriorly rotated ears, Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of ... ORPHA:568
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice OMIM:179700
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Facial palsy, Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Scapula... OMIM:181405
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl... ORPHA:449395
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Reduced serum a... OMIM:613490
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase conc... OMIM:614034
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Flexion contracture of finger, Ventricular septal defect, Hypospadias, Unilate... ORPHA:464311
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Proximal upper limb amyotro... OMIM:160150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Elevated circulating creatine kinase concentration, Hyperlordosis, Right ventricular dilatation, ... OMIM:253700
Spinocerebellar Ataxia, Autosomal Recessive 20
Hepatomegaly, Kyphoscoliosis, Hearing impairment, Splenomegaly, Sensorineural hearing impairment,... OMIM:616354
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Proteinuria, Glomerulonephritis, Rhizomelia, Short iliac bones, Metaphyseal widenin... OMIM:614376
Cantu Syndrome
Bicuspid aortic valve, Ovoid vertebral bodies, Broad hallux, Cardiomegaly, Short neck, Pericardia... OMIM:239850
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Kyphosis, Nephropathy, Ascites, Hearing impairment ORPHA:87876
Williams-Beuren Region Duplication Syndrome
Overfolded helix, Hydronephrosis, Unilateral renal agenesis OMIM:609757
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Lumb... OMIM:619636
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormal... OMIM:617519
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... OMIM:300635
Babesiosis
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Clinodactyly of the 5th toe, Splenomegaly, J... ORPHA:108
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... OMIM:602347
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Reticulocytosis, Splenomegaly, EEG abnormality, Reduced haptoglobin level OMIM:612126
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creati... OMIM:232400
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... OMIM:620135
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Hyperalaninemia OMIM:619064
Hereditary Sensory And Autonomic Neuropathy Type 2
Tapered finger, Hyperlordosis, Foot acroosteolysis, Abnormal epiphysis morphology, Abnormal hip b... ORPHA:970
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Incr... ORPHA:251004
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Macrotia, Palmoplantar keratoderma, Cardiomegaly OMIM:613576
Otospondylomegaepiphyseal Dysplasia
Short neck, Abnormal iliac wing morphology, Tibial bowing, Abnormal long bone morphology, Short p... ORPHA:1427
Spondylocarpotarsal Synostosis Syndrome
Short neck, Renal cyst, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger,... OMIM:272460
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Toe syndactyly, Posteriorly rotated ears, Short neck... OMIM:618958
Ehlers-Danlos Syndrome, Classic-Like
Vesicoureteral reflux, Quadricuspid aortic valve, Unilateral renal agenesis, Mitral valve prolapse OMIM:606408
Nemaline Myopathy 2
Spinal rigidity, Hyperlordosis, Thenar muscle atrophy, Scoliosis, Low-set ears, Hand clenching, M... OMIM:256030
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cortical cysts, ... OMIM:130650
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Clubbing, Enlarged kidney ORPHA:79128
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Short thumb, Lumbar hyperlordosis, Broad hallux, Brachydactyly OMIM:165800
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir... OMIM:613095
Simpson-Golabi-Behmel Syndrome, Type 1
Renal cyst, Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, Atrial septa... OMIM:312870
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Epiphyseal stippling, Low-set ears, Polycystic kidney dysplasia, Increased circulat... OMIM:614859
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Facial palsy, Hyperlordosis... OMIM:606612
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Kyphosis, Short toe, Sensorineural hearing impairment, Brachydactyly ORPHA:3085
Myasthenic Syndrome, Congenital, 14
Scapular winging, Mildly elevated creatine kinase, Scoliosis, Hyperlordosis OMIM:616228
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal dysplasia, Brachydactyly, Lumbar hyperlordosis, Irregular iliac crest, Metaphyseal wi... OMIM:250420
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Unilateral renal agenesis, Short neck, Absent thumb, Absent radius, Renal hyp... OMIM:614083
Propionic Acidemia
Hepatomegaly, Organic aciduria, Hyperammonemia, Cardiomyopathy ORPHA:35
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Attached earlobe, Hip contracture, Hydroureter, Posteriorly rotated ears, Unilateral renal agenes... OMIM:619194
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Short metacarpal, Single transverse palmar crease, Tape... OMIM:216550
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... OMIM:201475
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Anemia, Ascites, Thro... ORPHA:2123
8Q24.3 Microdeletion Syndrome
Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Shor... ORPHA:508488
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... OMIM:278000
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Eleva... ORPHA:98855
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Abnormal enteric nervous system morphology, Cardio... ORPHA:85451
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase OMIM:617068
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Chronic neutropenia, Hyperlipidemia, Hepatocellu... ORPHA:79259
Usmani-Riazuddin Syndrome, Autosomal Dominant
Lumbar hyperlordosis, 2-3 toe syndactyly, Thoracic kyphosis, Short finger, Clinodactyly of the 5t... OMIM:619467
Leopard Syndrome 1
Scapular winging, Hypospadias, Posteriorly rotated ears, Kyphoscoliosis, Short neck, Unilateral r... OMIM:151100
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Eleva... ORPHA:98863
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limb undergrowth, Lumbar hyperlordosis, Limited elbow extension, Bowing of the legs ORPHA:156728
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Renal agenesis, Broad hallux, Ectopic kidney, Hypoplasia of t... OMIM:212780
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Hypoplastic iliac wing, Anterior wedging of L1, Hepatomegaly, Lumbar hyperl... OMIM:253200
Arthrogryposis, Distal, Type 3
Lumbar hyperlordosis, Congenital hip dislocation, Thoracolumbar scoliosis, Kyphoscoliosis, Short ... OMIM:114300
Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Eleva... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, Eleva... ORPHA:98853
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Long toe, ... OMIM:615438
Hemochromatosis, Type 4
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Card... OMIM:606069
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Hyperlordosis, Kyphosis, Talipes equinovarus, Scoliosis OMIM:255200
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Schimke Immunoosseous Dysplasia
Pancytopenia, Lumbar hyperlordosis, Renal insufficiency, Ovoid vertebral bodies, Proteinuria, Sho... OMIM:242900
Lipodystrophy, Familial Partial, Type 6
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abnorma... OMIM:615980
Pseudo-Torch Syndrome 3
Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentrat... OMIM:618886
Nemaline Myopathy 7
Lumbar hyperlordosis, Shoulder girdle muscle weakness, Kyphoscoliosis OMIM:610687
Immunodeficiency 27A
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, ... OMIM:209950
King-Denborough Syndrome
Lumbar hyperlordosis, Ventricular septal defect, Elevated circulating creatine kinase concentrati... OMIM:619542
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Neurooculorenal Syndrome
Hypoplasia of the bladder, Mixed hearing impairment, Dextrocardia, Unilateral renal agenesis, Sho... OMIM:620305
Three M Syndrome 1
Scapular winging, Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Hip disloca... OMIM:273750
Myopathy, Myofibrillar, 7
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Urinary incontinence, S... OMIM:617114
Pelvis-Shoulder Dysplasia
Syndactyly, Lumbar hyperlordosis, Abnormal pinna morphology, Camptodactyly of finger, Fifth finge... ORPHA:2839
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... OMIM:612526
Galactosemia I
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:230400
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Abnormal pelvic girdle bone... OMIM:600057
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... ORPHA:42
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Optic disc pallor, Ventricular septal defect, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin... ORPHA:400
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... OMIM:306000
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia OMIM:261750
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macrotia, Kyphoscoliosis, Cardiomegaly OMIM:300886
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Kyphoscoliosis, Decreased nerve conduct... OMIM:601455
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Hyperammonemia, Anemia ORPHA:28
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Ventricular septal defect, Hypospadias, Fractured radius, Cardiomegaly, Short neck, ... OMIM:616897
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Cardiomegaly, Red-brown urine, Tubulointersti... ORPHA:228308
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:617713
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Mixed hearing impairment, Lumbar hyperlordosis, Large tarsal bones, Sensori... OMIM:215150
Alpha-Mannosidosis
Hepatomegaly, Bowing of the long bones, Short neck, Kyphosis, Splenomegaly, Hip dysplasia, Scolio... ORPHA:61
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Autoimmune thrombocytopenia, Increas... OMIM:607944
Distal Deletion 10Q
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Functional abnormality of the blad... ORPHA:96148
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Coxa vara, Hypopla... OMIM:313400
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Congenital Myopathy 8
Scoliosis, Cardiomegaly OMIM:618654
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumbar vertebrae, As... OMIM:252900
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:613818
Oculoskeletodental Syndrome
Hepatomegaly, Renal agenesis, Hypercalcemia, Splenomegaly, Elbow flexion contracture, Hypercalciu... OMIM:618440
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Renal insufficiency, Optic atrophy, Hyperammonemia, Anemia, Leuk... ORPHA:27
Mulibrey Nanism
Hepatomegaly, Single transverse palmar crease, Cardiomegaly, Myocardial fibrosis, Pericardial con... OMIM:253250
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... OMIM:300853
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration OMIM:613723
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Metaphyseal dysplasia, Rhizomelia, Micromelia, Short neck, Abnormality of the hand,... ORPHA:1842
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyper... OMIM:619170
Pycnodysostosis
Brachydactyly, Rhizomelia, Hyperlordosis, Kyphosis, Small hand, Hepatosplenomegaly, Short foot, M... ORPHA:763
Combined Oxidative Phosphorylation Deficiency 8
EEG abnormality, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi... ORPHA:615
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short femur, Limited elbow moveme... ORPHA:94068
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... OMIM:617821
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis, Hypertrophic cardiomyopathy OMIM:618234
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure ORPHA:60
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis OMIM:603034
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Cold Agglutinin Disease
Back pain, Hemolytic anemia, Hepatomegaly, Abnormal urinary color, Splenomegaly, Lymphadenopathy ORPHA:56425
Mogs-Cdg
Hepatomegaly, Thoracic scoliosis, Atrial septal defect, Absent brainstem auditory responses, Card... ORPHA:79330
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Renal insufficiency, Optic atrophy, Hyperammonemia, Anemia, Renal tubular dysfuncti... ORPHA:289916
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Optic disc pallor, Facial palsy, Splenomegaly, Optic atrophy, Anem... OMIM:611490
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Splenomegaly, Leukop... OMIM:620210
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Vertebral fusion, Sacral dimple, Hyperextensibility of the finger joints, Overlapping toe, Poster... OMIM:213980
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Renal insufficiency, Acute hepatic failure, Elevated hepatic transami... ORPHA:1667
Aredyld Syndrome
Low-set, posteriorly rotated ears, Hepatomegaly, Splenomegaly, Abnormality of the ureter, Abnorma... ORPHA:1133
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
Nail-Patella Syndrome
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Iliac horns, Clinodacty... OMIM:161200
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Hypoc... ORPHA:2237
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Iliac crest serration, Micromelia, Cardiomegaly, Short neck, Wide distal femoral metaphysis, Dela... OMIM:613320
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
EEG with parietal focal spikes, Hepatomegaly, Posteriorly rotated ears, Hyperlordosis, Tapered fi... OMIM:301066
Trisomy 10P
Absent gallbladder, Thumb contracture, Posteriorly rotated ears, Abnormality of the kidney, Abnor... ORPHA:171929
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hepatomegaly, Hyperextensibility of the finger joints, Ul... OMIM:228000
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Low-... OMIM:610333
Chromosome 10Q26 Deletion Syndrome
Prominent fingertip pads, Scapular winging, Lumbar hyperlordosis, Congenital hip dislocation, Sin... OMIM:609625
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Splenomegaly, Lymp... OMIM:618495
Congenital Myopathy 4A, Autosomal Dominant
Congenital hip dislocation, Lumbar hyperlordosis, Facial palsy, Dilated cardiomyopathy, Scoliosis OMIM:255310
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glo... OMIM:619644
Pfeiffer Syndrome
Finger syndactyly, Brachydactyly, Hyperlordosis, Short neck, Symphalangism affecting the phalange... ORPHA:710
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Hypoplasia of the radius, Madelung d... OMIM:249700
Typical Nemaline Myopathy
Elevated circulating creatine kinase concentration, Facial palsy, Hyperlordosis, Spinal rigidity,... ORPHA:171436
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Sensorineural hearing impairmen... OMIM:613861
Opsismodysplasia
Hepatomegaly, Abnormally ossified vertebrae, Tapered finger, Splenomegaly, Squared iliac bones, H... ORPHA:2746
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... OMIM:243300
7Q11.23 Microduplication Syndrome
Low-set, posteriorly rotated ears, Sacral dimple, Ventricular septal defect, Hypospadias, Unilate... ORPHA:96121
Nail-Patella Syndrome
Back pain, Abnormal tibia morphology, Abnormal femur morphology, Patellar hypoplasia, Iliac horns... ORPHA:2614
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Kyphosis, Thrombocytopenia, Splenomegaly,... ORPHA:77259
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Sensorineural ... OMIM:611762
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Scapular winging, Facial palsy, Hyperlordosis, Scoliosis OMIM:616852
Wieacker-Wolff Syndrome
Facial palsy, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Hip dislocation, ... OMIM:314580
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... OMIM:613327
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Spleno... ORPHA:583
Galactose Mutarotase Deficiency
Hepatomegaly, Hypergalactosemia, Cholestasis, Decreased liver function ORPHA:570422
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... OMIM:184253
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Intellectual Developmental Disorder, Autosomal Recessive 41
Splenomegaly, Hepatomegaly, Clinodactyly of the 5th finger, Prominent fingertip pads OMIM:615637
Beckwith-Wiedemann Syndrome
Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Hepatoblastoma, Posterior helix pit, N... ORPHA:116
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short neck, Tibial bowing, Irregular vertebral endplates, Shoulder dislocation, Short phalanx of ... OMIM:143095
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Rhizomelia, Posteriorly rotated ears, Short neck, Metaphyseal widening, Irr... OMIM:612813
Neurofaciodigitorenal Syndrome
Abnormal distal phalanx morphology of finger, Unilateral renal agenesis, External ear malformatio... ORPHA:2673
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Lumba... OMIM:250250
Martsolf Syndrome 1
Thoracic scoliosis, Lumbar hyperlordosis, Short metacarpal, Posteriorly rotated ears, Metatarsus ... OMIM:212720
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Congenital sensorineural hearing impairment, Elevated circulating cre... OMIM:617872
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Abnormal metacarpophalangeal joint morphology, Portal hypertens... ORPHA:465508
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Scalp-Ear-Nipple Syndrome
Finger syndactyly, Renal insufficiency, Posteriorly rotated ears, Unilateral renal agenesis, Unde... OMIM:181270
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated circulating creatine kinase concentration, Leukopenia, Vesicoureteral reflux, Micropenis... OMIM:301056
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, EEG with burst suppression, Increased myocardial glycogen con... OMIM:261740
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis OMIM:206750
Arthrogryposis, Distal, Type 2A
Hip contracture, Flexion contracture of finger, Shoulder flexion contracture, Kyphoscoliosis, Sho... OMIM:193700
Pentalogy Of Cantrell
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Rena... ORPHA:1335
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Short neck, Cardiomegaly, Microvesicular hepat... OMIM:300855
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Bifid Nose With Or Without Anorectal And Renal Anomalies
Posteriorly rotated ears, Renal agenesis, Unilateral renal agenesis, Ebstein anomaly of the tricu... OMIM:608980
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... OMIM:614377
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Three M Syndrome 3
Hyperlordosis, Short neck, Increased vertebral height, Protruding ear, Slender long bone, Hip dys... OMIM:614205
Facioscapulohumeral Dystrophy
Sensorineural hearing impairment, Elevated circulating creatine kinase concentration, Hyperlordosis ORPHA:269
Congenital Disorder Of Glycosylation, Type Ie
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:608799
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia OMIM:615085
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Short 4th toe, Prominent fingertip pads, Clinodactyly of the 5th finger, Atria... OMIM:615873
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Saethre-Chotzen Syndrome
Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive hearing impairment, Clinod... ORPHA:794
Fucosidosis
Hepatomegaly, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Mucopolysacchariduria, Ante... ORPHA:349
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, 2-3 toe syndactyl... ORPHA:313892
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal... ORPHA:84081
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of the capital femor... ORPHA:77258
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... ORPHA:1451
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c... ORPHA:57777
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... OMIM:205400
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Sensorineural hearing impairment, Hypoproteinemia OMIM:221400
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Talipes equinovarus, Scapular muscle atrophy, Elevated circulating creatine kinase concentration,... OMIM:611588
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Sensorineural hearing impairment... ORPHA:290
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Elevated hepatic transam... OMIM:260400
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Protruding ear, Micropenis, Hypospadias, Tapered finger, Scoliosis, Aortic valve stenosis, Hallux... ORPHA:268261
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormal heart valve morphology, Short neck, Kyphosis, Splenomegaly, Vacuolated lym... OMIM:230500
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Myasthenic Syndrome, Congenital, 16
Hyperlordosis OMIM:614198
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... OMIM:601847
Alpha-N-Acetylgalactosaminidase Deficiency
Hearing impairment, Oligosacchariduria, Scoliosis, Cardiomegaly ORPHA:3137
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Rocker bottom foot, Anisocytosis, Renal hypoplasia, Lacticaciduria, Aminoaciduria, ... OMIM:604273
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... OMIM:194380
Cockayne Syndrome
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria... ORPHA:191
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Hypospadias, Abnormal pulmonary valve morphology, Abnormality of the kidney, Campto... ORPHA:1194
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... OMIM:620282
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hepatic failure, Hyperammonemia ORPHA:664
Mitochondrial Myopathy, Infantile, Transient
Increased serum pyruvate, Hepatomegaly, Facial palsy, Elevated circulating creatine kinase concen... OMIM:500009
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Splenomegaly, Anemia, Elevated hepatic transaminase ORPHA:75563
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... OMIM:607765
Verheij Syndrome
Vertebral fusion, Ventricular septal defect, Renal agenesis, Optic nerve hypoplasia, Short neck, ... OMIM:615583
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Elevated circulating alanine aminotransf... OMIM:618805
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Brachydactyly, Congenital hip dislocation, Hyperlordosis, Tapered finger, Hypoplasia of the odont... OMIM:616007
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... OMIM:613812
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Short neck, Thrombocytopenia, Micronodular... OMIM:606003
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Short neck, Secundum atrial septal defect, Metaphyseal widening, Subarterial ventricular septal d... ORPHA:99646
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa... ORPHA:829
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Ketonuria, Low plasma citrulline, Renal steatosis, Elevated circulating alanine ami... OMIM:261680
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Ascites, Clubbing of toes, Palmoplantar keratoderma ORPHA:2198
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Metaphyseal widening, Coxa vara, Thoracic kyphosis, Neutropenia, Lumbar interpedicular narrowing,... OMIM:271510
Satoyoshi Syndrome
Tapered finger, Hyperlordosis, Abnormality of the humerus, Abnormal femur morphology, Abnormal ep... ORPHA:3130
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Hearing impairment, Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Abnormal fe... ORPHA:3218
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal urinary color, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abno... ORPHA:234
Leber Congenital Amaurosis 1
Hepatomegaly, Sensorineural hearing impairment, Optic disc drusen, Hyperthreoninuria, Hyperthreon... OMIM:204000
Distal 22Q11.2 Microduplication Syndrome
Sacral dimple, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Unilateral ren... ORPHA:261337
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Hypoalbuminemia, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly,... OMIM:619487
Congenital Muscular Dystrophy Due To Lmna Mutation
Spinal rigidity, Hyperlordosis ORPHA:157973
Zttk Syndrome
Absent gallbladder, Ventricular septal defect, Polyuria, Unilateral renal agenesis, Kyphosis, Hem... OMIM:617140
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Lumbar hyperlordosis, Rhizomelia, Hypoplastic scapulae, Si... OMIM:602471
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Kyphoscoliosis, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumb... OMIM:252930
Pelvis-Shoulder Dysplasia
Back pain, Lumbar hyperlordosis, Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic il... OMIM:169550
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Elevated ci... OMIM:619424
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Microcytic anemia, Hyperlordosis, In... OMIM:600462
Combined Oxidative Phosphorylation Deficiency 41
Hearing impairment, Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly OMIM:618838
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly ORPHA:77260
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale... OMIM:614582
Achondroplasia
Brachydactyly, Lumbar hyperlordosis, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, ... OMIM:100800
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Hyperlordosis, Short neck, Protruding ear, Slender long b... OMIM:612921
Neuropathy, Congenital, With Arthrogryposis Multiplex
Calcaneovalgus deformity, Hyperlordosis OMIM:162370
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Unilateral renal agenesis, Vertebral clefting, Abnormal vertebral morpholo... OMIM:615709
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creati... ORPHA:228305
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Single transverse palmar crease, Cubitus valgus, M... OMIM:214110
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... OMIM:183900
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c... OMIM:619503
Refsum Disease, Classic
Short fourth metatarsal, Cardiomegaly, Sensorineural hearing impairment, Elevated circulating phy... OMIM:266500
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... OMIM:184100
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, ... ORPHA:1797
Mucopolysaccharidosis, Type Vii
Short neck, Narrow greater sciatic notch, Anterior beaking of lumbar vertebrae, Large iliac wing,... OMIM:253220
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Single transverse palmar crease, Mo... OMIM:615777
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Vertebral segmentation defect, Scolios... ORPHA:1323
Duane-Radial Ray Syndrome
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Atrial se... OMIM:607323
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemophagocyt... ORPHA:79477
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Pancytopenia, Hepatomegaly, Femur fracture, Facial palsy... OMIM:259700
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Short neck, Thrombocytopenia, Elevated circulating creatinine concentration, Choles... OMIM:608104
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypoplasia of penis, Abnormal pinna morphology, Facial palsy, Hyperlordosis, Protruding ear, Abno... ORPHA:3068
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Pulmonic stenosis, Restrictive cardiomyopathy, Ascites, Portal vein hypoplasia OMIM:619433
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Hearing im... ORPHA:397596
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Short toe, Lymphadenopathy, Nephrotic syn... ORPHA:39041
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Low-set, posteriorly rotated ears, 2-5 finger syndactyly, Optic disc pallor, Hypospadias, Camptod... ORPHA:468631
Schizophrenia 1
Partially duplicated kidney, Syndactyly, Renal agenesis, Ectopic kidney, Protruding ear, Short pr... OMIM:181510
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
C Syndrome
Hepatomegaly, Short metacarpal, Toe syndactyly, Ventricular septal defect, Posteriorly rotated ea... OMIM:211750
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Elevated hepatic transaminase, E... ORPHA:2394
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hy... OMIM:235555
Immunodeficiency 102
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... OMIM:301082
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Sandal gap, Macrodactyly, Splenomegaly, Renal hypoplasia, Scoliosis, Nephroblastoma OMIM:612918
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr... ORPHA:79303
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... OMIM:613027
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Hyperalaninemia, Hypertrophic ... OMIM:614702
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Lumbar hyperlordosis, Facial palsy, Elevated circulating creatine kinase concen... ORPHA:353327
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Protruding ear, Nephrocalcinosis, Hyp... ORPHA:508
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto... OMIM:251880
Mcleod Syndrome
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:300842
Free Sialic Acid Storage Disease
Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Abnormality of the upper limb, Ascites ORPHA:834
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615356
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short neck, Femora... OMIM:617022
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ... ORPHA:85414
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Ectopic kidney, Short neck, Vertebral segmentation defect, Renal dysplasia, Heari... ORPHA:2578
Digeorge Syndrome
Renal dysplasia, Pilonidal sinus, Renal insufficiency, Ventricular septal defect, Unilateral rena... OMIM:188400
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Ventricular sept... OMIM:615673
Wilson Disease
Back pain, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Abnormality of the... ORPHA:905
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Trichorhinophalangeal Syndrome, Type I
Scapular winging, Short metacarpal, Ivory epiphyses of the distal phalanges of the hand, Swelling... OMIM:190350
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619232
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, Abnormality of the liver, Mildly elevated creatine kinase, Decreased circulating ca... ORPHA:254864
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy ORPHA:79292
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increa... ORPHA:540
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Ventricular septal defect, Unilateral renal agenesis, Hypsarrhythmia, Coronary artery fistula, At... OMIM:620024
Arthrogryposis, Distal, Type 5D
Congenital hip dislocation, Limited elbow movement, Hyperlordosis, Short neck, Calcaneovalgus def... OMIM:615065
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Unilateral renal agenesis OMIM:308750
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating crea... OMIM:614921
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Elevated circulating creatine kinase concentration, Hyperlordosis OMIM:613157
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon, Renal agenesis, Postaxial hand polydactyly, Sensorineural hearing impairme... ORPHA:2155
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thr... ORPHA:398124
Muckle-Wells Syndrome
Hepatomegaly, Camptodactyly of finger, Splenomegaly, Optic atrophy, Nephrotic syndrome, Renal amy... ORPHA:575
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Broad hallux, Optic nerve hypoplasia, Unilateral renal agenesis, Postaxial polydactyly, Hip dyspl... ORPHA:457284
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Classic Mycosis Fungoides
Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon... OMIM:251000
Osteopathia Striata-Cranial Sclerosis Syndrome
Posteriorly rotated ears, Facial palsy, Hyperlordosis, Conductive hearing impairment, High iliac ... ORPHA:2780
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Hep... OMIM:602579
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Decreased nerve conduction velocity, Splenomega... ORPHA:812
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Ketonuria, Single transverse palmar crease, Renal hypoplasia, Hypertrophic cardiomy... OMIM:619053
Peroxisome Biogenesis Disorder 7A (Zellweger)
Hepatomegaly, Posteriorly rotated ears, Elevated circulating hexacosanoic acid concentration, Jau... OMIM:614872
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub... OMIM:610205
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Ovoid vertebral bodies,... ORPHA:1517
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Short neck, ... OMIM:611881
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Bowing of the long bones, Elevated circula... ORPHA:2088
Alagille Syndrome
Hepatomegaly, Hypoplasia of the ulna, Ventricular septal defect, Renal hypoplasia/aplasia, Abnorm... ORPHA:52
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Ring Chromosome 12 Syndrome
Syndactyly, Lumbar hyperlordosis, Secundum atrial septal defect, Abnormal 5th finger morphology, ... ORPHA:1439
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Coxa valga, Splenomegaly, Optic atrophy, Hypoplastic vertebral bodies, Platyspondyl... OMIM:230600
Joubert Syndrome 33
Splenomegaly, Syndactyly OMIM:617767
Pallister-Hall Syndrome
Ectopic kidney, Hemivertebrae, Atrial septal defect, Micropenis, Atrioventricular canal defect, L... ORPHA:672
Campomelia, Cumming Type
Hepatomegaly, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Bowing of the long bon... ORPHA:1318
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... OMIM:300908
Distal 16P11.2 Microdeletion Syndrome
Renal agenesis, Abnormality of the kidney, Proteinuria, Arachnodactyly, Aganglionic megacolon, Ky... ORPHA:261222
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Vacterl/Vater Association
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Abnormal intervertebra... ORPHA:887
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... ORPHA:33402
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Os odontoideum, Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing imp... OMIM:619260
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Prominent fingertip pads, Arachnodactyly, Hyperlordosis, Mitral valve prolapse, Scoliosis, Atrial... OMIM:300986
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Sensorineural hearing impairment, Abnormality of the pal... OMIM:618652
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Sensorineural hearing impair... ORPHA:3226
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... OMIM:616050
Distal 22Q11.2 Microdeletion Syndrome
Recurrent urinary tract infections, Toe syndactyly, Ventricular septal defect, Arachnodactyly, Bo... ORPHA:261330
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Syndactyly, Anisocytosis, Anemia of inadequate p... OMIM:224120
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Sensorineural hearing impairment, Hype... OMIM:619046
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Intellectual Disability And Myopathy Syndrome
Congenital hip dislocation, Lumbar hyperlordosis, Limited elbow extension, Scoliosis OMIM:619719
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Vertebral... OMIM:230800
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Toe syndactyly, Hyperlordosis, Abnormality of the ureter, Palmoplantar hyperke... ORPHA:3253
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... OMIM:211600
Schwartz-Jampel Syndrome
Elevated circulating creatine kinase concentration, Micromelia, Short neck, Coxa vara, Wrist flex... ORPHA:800
Infantile Refsum Disease
Hepatomegaly, Facial palsy, Sensorineural hearing impairment, Elevated circulating phytanic acid ... ORPHA:772
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Hyperlordosis OMIM:617760
Al Amyloidosis
Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Howell-Jolly bo... ORPHA:85443
Cryoglobulinemic Vasculitis
Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Me... ORPHA:91138
Juvenile Sialidosis Type 2
Hepatomegaly, Abnormality of the kidney, Optic atrophy, Abnormal form of the vertebral bodies, Ab... ORPHA:93399
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Hepatomegaly, Elevated circulating creatine kinase concentration, Scoliosis OMIM:615704
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Hurler Syndrome
Short neck, Metaphyseal widening, Endocardial fibroelastosis, Hepatomegaly, Hypoplasia of the fem... OMIM:607014
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Short neck, Metatarsus adductus, Splenomegaly, Hepa... ORPHA:584
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Increased circulating thyroglobulin level, Thoracolumbar scoliosis, Portal hyperten... OMIM:610199
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Abnormal finger morphology, Phocomelia, Atrial septal defect, Hepatome... ORPHA:2538
Galactokinase Deficiency
Hepatomegaly, Sensorineural hearing impairment, Hepatosplenomegaly, Increased level of galactitol... ORPHA:79237
Congenital Myopathy 10B, Mild Variant
Elevated circulating creatine kinase concentration, Hyperlordosis, Abnormal circulating creatine ... OMIM:620249
Isolated Atp Synthase Deficiency
Hepatomegaly, Sensorineural hearing impairment, Dilated cardiomyopathy, Optic atrophy, Renal hypo... ORPHA:254913
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... ORPHA:529808
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Hurler-Scheie Syndrome
Hepatomegaly, Camptodactyly of finger, Thenar muscle atrophy, Heparan sulfate excretion in urine,... OMIM:607015
Acute Bilirubin Encephalopathy
Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbu... ORPHA:529799
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly, Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular... OMIM:616028
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... ORPHA:85450
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Single transverse palmar crease, Secundum atrial septal defect, Leukopenia, Hypoplasia of the thy... OMIM:612541
Dysostosis, Stanescu Type
Bowing of the long bones, Micromelia, Hyperlordosis, Short neck, Kyphosis, Abnormal epiphysis mor... ORPHA:1798
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... ORPHA:1454
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Absent brainstem auditory respo... ORPHA:90321
Lateral Meningocele Syndrome
Ventricular septal defect, Posteriorly rotated ears, Hyperlordosis, Short neck, Kyphosis, Abnorma... ORPHA:2789
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Dilated cardiomyopathy, Hepatos... ORPHA:367
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Coxa valga, Sensorineural hearing impairment, Hip dislocatio... OMIM:109120
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... ORPHA:2911
Hurler Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Camptodactyly of finge... ORPHA:93473
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Kyphoscoliosis, Cardiomegaly, Abnormal thumb morphology, Abnormal atrioventricular valve morpholo... ORPHA:324410
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Camptodactyly of finger, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Rhizomelia, Posteriorly rotated ears, Sh... ORPHA:171866
Pyruvate Carboxylase Deficiency
Increased serum pyruvate, Hepatomegaly, Proximal renal tubular acidosis, Hyperalaninemia OMIM:266150
Mend Syndrome
Sacral dimple, Broad hallux, Overlapping toe, Abnormal auditory evoked potentials, Kyphosis, Elev... ORPHA:401973
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Short fourth metatarsal, Brachydactyly, Posteriorly rotated ears, Single transverse... OMIM:618143
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites ORPHA:2414
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly, Reduced renal corticomedullary differentiation, Single transverse pal... OMIM:618541
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Intrinsic hand muscle atrophy, Scoliosis, Hyperlordosis OMIM:620285
Griscelli Syndrome
Hepatomegaly, Abnormal circulating lipid concentration, Abnormality of neutrophils, Splenomegaly,... ORPHA:381
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Renal tubular ac... OMIM:614922
Gaucher Disease, Type Iii
Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia OMIM:231000
Immunodeficiency 54
Splenomegaly, Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:609981
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:308700
Immunodeficiency, Common Variable, 2
Splenomegaly, Hepatomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Muscular Dystrophy, Duchenne Type
Elevated circulating creatine kinase concentration, Hyperlordosis, Dilated cardiomyopathy, Cardio... OMIM:310200
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Short neck, Shoulder dislocation, Atrial septal defect, Pate... OMIM:245600
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... OMIM:611926
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Lumbar hyperlordosis, Ventricular septal defect, Broad hallux, Short neck, Slender finger, Small ... ORPHA:251028
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Sponastrime Dysplasia
Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epip... ORPHA:93357
Opitz-Kaveggia Syndrome
Syndactyly, Sacral dimple, Lumbar hyperlordosis, Hypospadias, Single transverse palmar crease, Br... OMIM:305450
Sialuria
Hepatomegaly, Splenomegaly, 2-3 toe syndactyly, Scoliosis, Low-set ears, Long hallux, Increased l... OMIM:269921
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... OMIM:618935
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, EEG a... OMIM:246450
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Back pain, Recurrent urinary tract infections, Lumbar hyperlordosis, Toe syndactyly, Bilateral ca... OMIM:619234
Sialuria
Neuropathic spinal arthropathy, Hepatomegaly, Elevated hepatic transaminase, 2-3 toe syndactyly, ... ORPHA:3166
Multiple Sulfatase Deficiency
Hepatomegaly, Broad hallux phalanx, Splenomegaly, Sensorineural hearing impairment, Optic atrophy... ORPHA:585
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis ORPHA:1064
Transketolase Deficiency
Hepatomegaly, Increased level of ribose in urine, Ventricular septal defect, Hearing impairment, ... ORPHA:488618
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Neurogenic bladder, Elevated circulating creatine kinase concentration, Elevated ci... OMIM:608779
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Hepatomegaly, Decreased sensory nerve conduction veloc... ORPHA:456312
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure OMIM:613489
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Leukopenia, Tubulointerstitial nephritis, Renal fibrosis... ORPHA:470
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Renal tubular acidosis, Transient hyperlipidemia, Hy... ORPHA:156
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure OMIM:618549
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... OMIM:601152
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Absent brainstem ... ORPHA:101085
Peroxisome Biogenesis Disorder 1B
Hepatomegaly, Hyperoxaluria, Sensorineural hearing impairment, Optic atrophy, Renal cyst, Epiphys... OMIM:601539
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Hepatomegaly, Acute hepatic failure, Dicarboxylic aciduria, Eleva... OMIM:613070
Bethlem Myopathy
Scapular winging, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Inter... ORPHA:610
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Absent thumb, Short t... OMIM:227650
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V... ORPHA:565612
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... OMIM:301068
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Exocrine pancreatic insufficiency OMIM:260450
Bent Bone Dysplasia Syndrome 2
Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Hypoplastic a... OMIM:620076
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Fetal pyelectasis, Calcaneovalgus deformity, Protrudi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Fetal pyelectasis, Calcaneovalgus deformity, Protrudi... ORPHA:363958
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:264580
Short-Rib Thoracic Dysplasia 12
Short neck, Bowing of the legs, Short palm, Patent foramen ovale, Hepatomegaly, Short toe, Renal ... OMIM:269860
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Absent thumb, Short t... OMIM:600901
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ... OMIM:300400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Patellar apla... ORPHA:2842
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Glomerulopathy, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, ... ORPHA:36412
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:619051
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Legionnaires Disease
Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Myocarditis... ORPHA:549
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Lumbar hyperlordosis, Arachnodactyly, Optic nerve hypoplasia, Kyphoscoliosis,... ORPHA:500150
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Dilatation of the ventricular cavity, Hip dislocation, Pyelonephritis,... ORPHA:90348
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Papilledema, Abnormal heart valve morphology, Short neck, Heparan sulfate excretion... OMIM:309900
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration, Epiphys... OMIM:614862
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuri... OMIM:239200
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Kyphoscoliosis, Coxa valga, Splenomegaly, Long fingers, ... OMIM:608149
Niemann-Pick Disease, Type A
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... OMIM:257200
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Bicuspid aortic valve, Short neck, Abnormal optic disc morphology, Thoracic k... ORPHA:508498
Peroxisomal Acyl-Coa Oxidase Deficiency
Hepatomegaly, Sensorineural hearing impairment, Optic atrophy, EEG abnormality, Hand polydactyly,... ORPHA:2971
Cog5-Cdg
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Posteriorly rotated ears, Urinar... ORPHA:263487
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Kyphosis, Sensorineural hearin... OMIM:615381
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia ORPHA:75233
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly OMIM:268800
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:308552
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Cardiomyopa... ORPHA:1215
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Hypocalcemia, Tetralogy of Fallot,... OMIM:601005
Scheie Syndrome
Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Mucopolysacchariduria, Abnormal ner... ORPHA:93474
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... OMIM:600501
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperlordosis, El... ORPHA:365
Cockayne Syndrome A
Hepatomegaly, Renal insufficiency, Hip contracture, Proteinuria, Abnormal pinna morphology, Abnor... OMIM:216400
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Cystathio... OMIM:277380
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu... OMIM:277900
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Anemia OMIM:618107
Hsd10 Disease, Infantile Type
Cardiomegaly, Optic atrophy, Hyperammonemia, Hypertrophic cardiomyopathy, Abnormal concentration ... ORPHA:391428
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Splenomegaly, Abnormal fi... ORPHA:3035
Triploidy
Low-set, posteriorly rotated ears, Hepatomegaly, Hypoplasia of penis, Finger syndactyly, Hypospad... ORPHA:3376
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor, Broad finger OMIM:617523
Fetal Gaucher Disease
Low-set, posteriorly rotated ears, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the s... ORPHA:85212
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Elevated hepatic transaminase, Hepatomegaly, Metaphyseal widening, Abnormal form of the vertebral... ORPHA:73230
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Sensorineural hearing ... ORPHA:579
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Brain abscess, Lumbar hyperlordosis, Rhizomelia, Urinary incontinence, Kyphosis, Femoral bowing, ... OMIM:616482
Fanconi Anemia, Complementation Group D2
Ectopic kidney, Reticulocytopenia, Aplasia of the 1st metacarpal, Neutropenia, Micropenis, Pelvic... OMIM:227646
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Hereditary Orotic Aciduria
Low-set, posteriorly rotated ears, Orotic acid crystalluria, Splenomegaly, Abnormality of the ure... ORPHA:30
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... ORPHA:131
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act... OMIM:203800
Multiple Sulfatase Deficiency
Hepatomegaly, Broad hallux, Splenomegaly, Hypoplastic vertebral bodies, Mucopolysacchariduria, Br... OMIM:272200
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Facial palsy, Splenomegaly, Mediastinal lymphadenopathy, Clubbing OMIM:612387
Syndromic Diarrhea
Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m... ORPHA:84064
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Pancytopenia, Ventricular septal defect, Renal agenesis, Ectopic ki... OMIM:227645
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis OMIM:605479
Refsum Disease
Short metacarpal, Renal insufficiency, Splenomegaly, Sensorineural hearing impairment, Cardiomyop... ORPHA:773
Trichohepatoenteric Syndrome 1
Hepatic fibrosis, Hypoalbuminemia, Hepatomegaly, Hypospadias, Increased mean platelet volume, Abn... OMIM:222470
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:618398
3Mc Syndrome
Abnormal pinna morphology, Hearing impairment, Hyperlordosis, Limited pronation/supination of for... ORPHA:293843
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... ORPHA:30391
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Decreas... OMIM:251290
Classic Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Wild Type Attr Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal autonomic nervous sy... ORPHA:330001
Lethal Acantholytic Erosive Disorder
Abnormal pinna morphology, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyop... ORPHA:158687
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evok... OMIM:133540
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Congenital Muscular Dystrophy With Cerebellar Involvement
Lumbar hyperlordosis, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration,... ORPHA:370959
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... ORPHA:79124
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly OMIM:614473
Propionic Acidemia
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Hyperglycinuria, Hyperammo... OMIM:606054
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color, Increased total bilirubin ORPHA:90037
Majeed Syndrome
Hepatomegaly, Glomerulopathy, Proteinuria, Congenital hypoplastic anemia, Splenomegaly, Leukocyto... ORPHA:77297
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Lumbar hyperlordosis, Ventricular septal defect, Hypospadias, Posteriorly rotated ear... OMIM:616975
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Proteinuria, Hypouricemia, Nephro... OMIM:616026
Peroxisome Biogenesis Disorder 5A (Zellweger)
Single transverse palmar crease, Conjugated hyperbilirubinemia, Renal cyst, Atrial septal defect,... OMIM:614866
Sézary Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy, Palmoplantar keratoderma, Abnormal lymphocyte morpho... ORPHA:3162
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... OMIM:613280
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Short neck, Vertebral segm... ORPHA:373
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Pure Mitochondrial Myopathy
Scapular winging, Lumbar hyperlordosis, Recurrent myoglobinuria, Shoulder girdle muscle weakness,... ORPHA:254854
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circu... OMIM:300972
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... ORPHA:822
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy,... OMIM:617591
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Asymmetry of the ears, Sensorineural hearing impairment, ... OMIM:617796
Congenital Sialidosis Type 2
Hepatomegaly, Abnormality of the kidney, Optic atrophy, Abnormal heart morphology, Hepatosplenome... ORPHA:93400
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormality of the vertebral spinous processes, Abnormality of the hand, Abnor... ORPHA:909
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Aminoacid... ORPHA:436271
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Arachnodactyly, Cardiomegaly, Thenar muscle atrophy, Thin metatarsal c... ORPHA:2463
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Abnormal pinna morphology, Glutaric aciduria, Jaundice, Generalized aminoaciduria, ... OMIM:231680
Abetalipoproteinemia
Elevated hepatic transaminase, Reticulocytosis, Hepatomegaly, Decreased HDL cholesterol concentra... ORPHA:14
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hemivertebrae, Micropenis, Hypospadias, Tapered finger, Perimembranous ventricular septal defect,... OMIM:301040
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... ORPHA:904
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Ventricular septal defect, Spinal canal stenosis, Broad palm, Pulmonic sten... OMIM:277600
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Kyphoscoliosis, Hyperlordosis, Renal hypoplasia/aplasia, Abnormal tibi... ORPHA:363700
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Dominant Beta-Thalassemia
Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con... ORPHA:231226
Beta-Thalassemia Major
Hepatomegaly, Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular ... ORPHA:231214
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... OMIM:249100
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic aciduria, Elev... OMIM:212138
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Glomerulopathy, Hypertriglyceridemia, Splenomegaly, Hypertrophic cardiomyopathy, He... ORPHA:2348
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... OMIM:618278
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Hypercalcemia, Kyphoscoliosis, Hyperlordosis, Elevated urin... ORPHA:653
Felty Syndrome
Hepatomegaly, Pericarditis, Recurrent urinary tract infections, Thrombocytopenia, Splenomegaly, L... ORPHA:47612
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Neurogenic bladder, Hypospadias, Ur... ORPHA:573278
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy ORPHA:3386
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... OMIM:616005
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Cardiomegaly, Glandular hypospadias, Abnormal circulating ceruloplasmin concentratio... OMIM:620306
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Aplasia/Hypoplasia of ... ORPHA:3027
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplasia, Metaphys... ORPHA:811
Cap Myopathy
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Mitral valve prolapse ORPHA:171881
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Sensorineural hearing impairment, Schistocytosis, Hypochromic... OMIM:616084
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,... OMIM:102700
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, Protruding ear, EEG abnormality, Hip dysplasia OMIM:618798
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:79240
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Low back pain, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... ORPHA:86843
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Decreased nerve conduction velocity, ... OMIM:261515
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Short 5th metacarpal ORPHA:66518
Klippel-Trénaunay Syndrome
Hepatomegaly, Microcytic anemia, Upper limb asymmetry, Hematuria, Abnormal tricuspid valve morpho... ORPHA:90308
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Ventricular septal defect, Thickened helices, Short metat... OMIM:608328
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... ORPHA:276
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Epiphyseal dysplasia, Congenital hip dislocation, Splenomegaly, Optic a... OMIM:617913
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Thoracic scoliosis, Elevated circulating aspartate aminotransferase concentration, ... OMIM:606056
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Rauch-Steindl Syndrome
Attached earlobe, Hepatomegaly, Sacral dimple, Prominent crus of helix, Bilateral renal hypoplasi... OMIM:619695
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Aganglionic... OMIM:308205
Greenberg Dysplasia
Micromelia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcaneus, Absent or... OMIM:215140
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Cholangitis, Short neck, Short metatarsal, Renal cyst, Hepatic fibrosis, Ne... OMIM:266920
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation OMIM:618042
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Anemia OMIM:620296
Mucopolysaccharidosis Type 3
Cardiomegaly, Adenoiditis, Abnormal form of the vertebral bodies, Conductive hearing impairment, ... ORPHA:581
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hypoalbuminemia, Decreased liver function ORPHA:79319
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Sensor... ORPHA:98907
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Bowed forearm bones, Renal agenesis, Ectopic kidney, Absent radius, Absent ... OMIM:602200
Marden-Walker Syndrome
Epispadias, Abnormal form of the vertebral bodies, Abnormal penis morphology, Multicystic kidney ... ORPHA:2461
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Facial palsy, Scoliosis, Hyperlordosis OMIM:128100
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Microtia, Low-set... OMIM:608013
Hyperlipoproteinemia, Type Id
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis OMIM:158330
Cat Eye Syndrome
Ventricular septal defect, Renal agenesis, Absent radius, Biliary atresia, Vesicoureteral reflux,... OMIM:115470
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Increased hepatocellular lipid droplets, Sensorineu... OMIM:220110
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis... ORPHA:79456
Cranioectodermal Dysplasia 2
Cholangitis, Short neck, Renal cyst, Atrial septal defect, Patent foramen ovale, Simple ear, Hepa... OMIM:613610
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Optic atrophy, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glyco... OMIM:619259
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Cirrhosis, Hypertrophic cardiomy... ORPHA:79083
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric... ORPHA:781
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level OMIM:615238
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarn... ORPHA:159
Pearson Syndrome
Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Hepatomegaly,... ORPHA:699
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... ORPHA:93111
Lathosterolosis
Abnormal thoracic spine morphology, Hepatomegaly, Hypoplasia of penis, Toe syndactyly, Intrahepat... ORPHA:46059
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... ORPHA:52368
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Pilonidal sinus, Thoracic scoliosis, Epiphyseal dysplasia, Short neck, Heparan sulf... OMIM:252940
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Hypoplasia of penis, Leukocytosis, Lymphadenopathy, Acute leukemia, C... ORPHA:99812
Peroxisome Biogenesis Disorder 1A (Zellweger)
Single transverse palmar crease, Aminoaciduria, Ulnar deviation of the hand or of fingers of the ... OMIM:214100
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Profound hearing... OMIM:619418
Fanconi Anemia, Complementation Group B
Aplastic anemia, Ventricular septal defect, Renal agenesis, Short neck, Absent thumb, Overfolded ... OMIM:300514
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Optic disc pallor, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricu... OMIM:619167
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Single transverse palmar crease, Protruding ear, Tubulointerstitial nephri... OMIM:218330
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ... ORPHA:439
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Lumbar hyperlordosis, Equinus calcaneus, EEG with focal sharp waves, 2-3 toe syndactyly, EEG abno... ORPHA:522077
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Proteinuria, Pericardial effusion, Kyp... OMIM:212065
Prolidase Deficiency
Hepatomegaly, Recurrent cystitis, Arachnodactyly, Hearing impairment, Splenomegaly, Genu valgum, ... ORPHA:742
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splen... OMIM:612852
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... ORPHA:3240
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Postaxial hand polydactyly, Optic atrophy, Stage 5 chronic k... OMIM:243910
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Renal agenesis, Posteriorly rotated ears, Complete atrio... OMIM:264480
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Elevated circulating aspar... OMIM:227810
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Secundum atrial septal defect, Abnormal renal cortic... OMIM:617397
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Hypoalbuminemia, Neoplas... ORPHA:171
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... OMIM:614887
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Hyperammonemia, Methylmalonic acid... OMIM:251110
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, O... OMIM:251900
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat... ORPHA:83469
Chops Syndrome
Ventricular septal defect, Thickened helices, Hearing impairment, Splenomegaly, Optic atrophy, An... OMIM:616368
Frontorhiny
Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Camptodactyly of finger, Finger clinodac... ORPHA:391474
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Optic disc pallor, Facial palsy, Thromb... OMIM:259720
15q26 overgrowth syndrome
Long toe, Renal agenesis, Abnormality of the kidney, Arachnodactyly, Short neck, Tapered finger, ... DECIPHER:81
Intellectual Developmental Disorder, Autosomal Dominant 29
Lumbar hyperlordosis, Sandal gap, Broad hallux, Hyperlordosis, Hip dysplasia, Cutaneous finger sy... OMIM:616078
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Aplasia of the epi... OMIM:617088
Myotonia Permanens
Hyperlordosis ORPHA:99735
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemia, Increased circulat... OMIM:613179
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... OMIM:619652
Acrorenal-Mandibular Syndrome
Hemivertebrae, Aplasia of the bladder, Hypoplasia of the ulna, Split hand, Split foot, Low-set ea... OMIM:200980
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Portal hypertension, Short-segment ag... OMIM:609136
Meckel Syndrome, Type 1
Short neck, Asplenia, Accessory spleen, Syndactyly, Malformation of the hepatic ductal plate, Ele... OMIM:249000
Amyloidosis, Hereditary, Transthyretin-Related
Urinary incontinence, Cardiomegaly, Sensorineural hearing impairment, Cardiomyopathy, Abnormal au... OMIM:105210
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:616433
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Hemivertebrae, Micropenis, Dysplastic sacrum, Ab... OMIM:134780
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,... OMIM:201450
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Decreased nerve... OMIM:214500
Peroxisome Biogenesis Disorder 4B
Hepatomegaly, Single transverse palmar crease, Decreased nerve conduction velocity, Sensorineural... OMIM:614863
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Renal artery aneurysm, Portal hyperten... OMIM:615688
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Ventricular septal defect, Overlapping toe, Simple ear, Splenomegaly, Hip dislocati... OMIM:618268
Macrocephaly/Autism Syndrome
Splenomegaly, Hepatomegaly, Lymphopenia, Penile freckling OMIM:605309
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalv... OMIM:222700
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Leukocytosis, Jaundic... ORPHA:20
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Leukopenia, Abnormality of ... ORPHA:1304
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atrial septal defect, Protru... OMIM:619534
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Micromelia, Renal hypoplasia/aplasia, Short neck, H... ORPHA:3015
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le... ORPHA:90033
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Branchiooculofacial Syndrome
Single transverse palmar crease, Proximal placement of thumb, Short neck, Renal cyst, Conductive ... OMIM:113620
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Pericarditis, Mediastinal lymphadenopathy, Splenomegaly, Myocardi... ORPHA:809
Diamond-Blackfan Anemia
Pure red cell aplasia, Short neck, Reticulocytopenia, Leukopenia, Triphalangeal thumb, Neutropeni... ORPHA:124
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly... OMIM:256040
Multiple Endocrine Neoplasia, Type Iib
Aganglionic megacolon, Hyperlordosis, Kyphosis, Elevated urinary epinephrine level, Scoliosis, Pr... OMIM:162300
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... OMIM:269700
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, Abnor... ORPHA:3472
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Argininemia
Hepatomegaly, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Diaminoaciduria, Portal fibros... OMIM:207800
Biotinidase Deficiency
Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Optic atrophy, Hyperammonemia, Orga... OMIM:253260
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ... OMIM:251100
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Splenomegaly, EEG abnormality, Low-set ears, Neutropenia, Macrotia OMIM:617050
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Congenital hip dislocation, Kyphoscoliosis, Hyperlordosis, Cor pulmonale, Elbow ... ORPHA:2020
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly, Nephrocalcinosis ORPHA:53715
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Atrial septal defect, Atrioventricular can... OMIM:619573
Chanarin-Dorfman Syndrome
Hepatomegaly, Sensorineural hearing impairment, Microtia, Hepatic steatosis OMIM:275630
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:609049
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... OMIM:210250
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Elevated circulating uroporphy... OMIM:263700
Sepsis In Premature Infants
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... ORPHA:90051
Hennekam Syndrome
Finger syndactyly, Camptodactyly of finger, Ectopic kidney, Pericardial effusion, Splenomegaly, E... ORPHA:2136
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Proteinu... ORPHA:77261
Geleophysic Dysplasia 1
Hepatomegaly, Tricuspid stenosis, Camptodactyly of finger, Coxa valga, Hypoplasia of the capital ... OMIM:231050
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly... OMIM:257220
Geleophysic Dysplasia 2
Hepatomegaly, Ovoid vertebral bodies, Tricuspid stenosis, Mitral valve prolapse, Cone-shaped epip... OMIM:614185
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... ORPHA:100085
Citrullinemia, Classic
Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat... OMIM:215700
Proboscis Lateralis
Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal agenesis, Optic disc coloboma... ORPHA:141099
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... ORPHA:3261
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega... OMIM:608594
8P11.2 Deletion Syndrome
Hemolytic anemia, Sacral dimple, Hypoplasia of penis, External ear malformation, Splenomegaly, Sp... ORPHA:251066
Zimmermann-Laband Syndrome 1
Hepatomegaly, Hyperextensibility of the finger joints, Posteriorly rotated ears, Hearing impairme... OMIM:135500
Hajdu-Cheney Syndrome
Hepatomegaly, Coarse metaphyseal trabecularization, Brachydactyly, Mitral stenosis, Ventricular s... ORPHA:955
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Kyphosis, Jaundice, Sp... OMIM:615512
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Posteriorly rotated ears, Splenomegaly, Hepatosplen... OMIM:608233
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Orthostatic hypotension, Abnormal auditory evoked potentials,... ORPHA:99027
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Facial palsy, Hyperlordosis, Cardiomyopathy, Highly elevated creatine kinase, Scoliosis ORPHA:258
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Splenomegaly, M... ORPHA:33226
Alexander Disease
Facial palsy, Hyperlordosis, Short neck, Kyphosis, EEG abnormality, Abnormal autonomic nervous sy... ORPHA:58
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Hyperzincemia With Functional Zinc Depletion
Hepatomegaly, Increased serum zinc OMIM:601979
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Congenital hip dislocation, Nodul... ORPHA:404454
Heterotaxy, Visceral, 5, Autosomal
Absence of the sacrum, Right atrial isomerism, Ureteral duplication, Ventricular septal defect, D... OMIM:270100
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Sacral dimple, Thickened helices, Short neck, Hyperlordosis, Tapered finger, Long fingers, Unilat... OMIM:619950
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Proximal muscle weakness in upper limbs, Hypertriglyceridemia, Elevated circulating... ORPHA:435660
Degcags Syndrome
Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Atrial septal defect, Patent fora... OMIM:619488
Reynolds Syndrome
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi... OMIM:613471
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Arachnodactyly, Posteriorly rotated ears, Hyperlordosis, Kyphosis, Large hands, Scoliosis, Low-se... OMIM:617011
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenome... ORPHA:37042
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Metaphyseal widening, Genu varum, Metaphyseal irregularity, Low-... OMIM:617941
Pachydermoperiostosis
Hepatomegaly, Splenomegaly, Small hand, Clubbing of toes, Palmoplantar keratoderma, Abnormal epip... ORPHA:2796
Turnpenny-Fry Syndrome
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Overlapping toe, Tapered finger, Long fingers, Con... OMIM:618371
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal heart valve... ORPHA:77293
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Cardiomyopathy, Cirrhosis, A... ORPHA:79086
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... OMIM:300257
Mucolipidosis Type Ii
Hip contracture, Abnormal mitral valve morphology, Limited wrist movement, Kyphosis, Splenomegaly... ORPHA:576
Cystinosis, Nephropathic
Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hy... OMIM:219800
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... OMIM:557000
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Ulnar deviation of the 3rd finger, Pancreatic fibrosis, Proximal placement of thumb... OMIM:616263
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepa... OMIM:260920
Iniencephaly
Rhizomelia, Renal agenesis, Rocker bottom foot, Hyperlordosis, Absent vertebra, Talipes equinovar... ORPHA:63259
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy ORPHA:379
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Uplifted earlobe, Palmoplantar hyperkeratosis, Clinodactyly of the 5th finger, Conductive hearing... OMIM:280000
Stiff-Person Syndrome
Lumbar hyperlordosis, Anemia OMIM:184850
Bohring-Opitz Syndrome
Low-set, posteriorly rotated ears, Ulnar deviation of the wrist, Nephroblastoma, Cardiomegaly, Bi... ORPHA:97297
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Chronic pancreatitis, Hyperli... OMIM:232240
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Left atrial enlargement, Interstitial cardiac fibrosis, Hypertrophic cardiomyopathy... ORPHA:75249
Vater/Vacterl Association
Renal dysplasia, Syndactyly, Ventricular septal defect, Hypospadias, Renal agenesis, Ectopic kidn... OMIM:192350
Hallermann-Streiff Syndrome
Abnormality of the hand, Hyperlordosis, Metaphyseal widening, Optic disc coloboma, Slender long b... OMIM:234100
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem... OMIM:608885
Noonan Syndrome
Low-set, posteriorly rotated ears, Hepatomegaly, Abnormal pulmonary valve morphology, Thickened h... ORPHA:648
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly ORPHA:33577
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Generalized Arterial Calcification Of Infancy
Cardiomegaly, Nephrocalcinosis, Abnormal calcification of the carpal bones, Conductive hearing im... ORPHA:51608
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis ORPHA:79085
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly OMIM:208000
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality, Urinary incontinence ORPHA:206448
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Hearing impairment, Thrombocy... ORPHA:1775
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Abnormal palmar dermatoglyphics, Prominent fingertip pads, Syndactyly, Lum... OMIM:309800
Polycythemia Vera
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia, Tinnitus ORPHA:729
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Pr... OMIM:619127
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Cranial nerve com... ORPHA:2785
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Femur fracture, Splenomegaly, Optic atrophy, Anemia, Optic nerve compression, Hypoc... OMIM:612301
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal insufficiency, Toe syndactyly, Renal agenesis, Mitral atresia, Ectopic kidney, Hypoplasia o... ORPHA:140952
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... ORPHA:412
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Mucopolysaccharidosis Type 2, Severe Form
Increased size of nasopharyngeal adenoids, Abnormal tricuspid valve morphology, Conductive hearin... ORPHA:217085
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morphology, Splenomegaly, Lympha... ORPHA:667
Argininosuccinic Aciduria
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H... OMIM:207900
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Niemann-Pick Disease, Type C2
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos... OMIM:607625
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Brain abscess, Clubbing of fingers, Extrahepatic portal hypertension, L... ORPHA:2929
Mucopolysaccharidosis Type 2, Attenuated Form
Increased size of nasopharyngeal adenoids, Abnormal tricuspid valve morphology, Conductive hearin... ORPHA:217093
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricula... OMIM:619525
Hereditary Fructose Intolerance
Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Hypermagnesemia, Hyperuricem... ORPHA:469
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmal... OMIM:275350
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, Abnormal sacro... ORPHA:32960
Cystic Fibrosis
Hepatomegaly, Cor pulmonale, Biliary cirrhosis, Hypercalciuria, Hepatosplenomegaly, Clubbing of f... OMIM:219700
Okamoto Syndrome
Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Splenomegaly... ORPHA:2729
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Jaundice... OMIM:229600
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Arachnodactyly, Single transverse palmar crease, Overlapp... ORPHA:83617
Trichodermodysplasia-Dental Alterations Syndrome
Palmoplantar keratoderma, Abnormal hip bone morphology, Scoliosis, Hyperlordosis ORPHA:3353
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Single transverse palmar crease, Short neck, Hemivertebrae, Tibial bowing, Hypoplastic iliac wing... ORPHA:96334
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Floating-Harbor Syndrome
Short neck, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Atrial septal defect, Conductiv... ORPHA:2044
Familial Mediterranean Fever
Acute hepatic failure, Pericarditis, Proteinuria, Splenomegaly, Peritonitis, Lymphadenopathy, Nep... ORPHA:342
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphosco... OMIM:300967
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Hand mus... ORPHA:98908
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small hypothenar eminence, Lumbar hyperlordosis, Decreased palmar creases, Thenar muscle atrophy,... ORPHA:2232
Gaucher Disease
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Abnormal... ORPHA:355
Stiff Person Spectrum Disorder
Lumbar hyperlordosis ORPHA:3198
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Cardiomegaly, Neonatal alloimmune thrombocytopenia, Chronic lympha... ORPHA:51
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-... ORPHA:50918
Lymphatic Malformation 6
Abnormal pinna morphology, Splenomegaly, Cupped ear, Scoliosis, Atrial septal defect, Intestinal ... OMIM:616843
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy, Renal cyst ORPHA:137675
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Papilledema, Pancytopenia, Mitral valve calcification, Abnormality of the spleen, ... ORPHA:2072
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr... ORPHA:1677
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymph... ORPHA:1572
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Finger syndactyly, Ventricular septal defect, Optic nerve hypoplasia, 2-3 toe synda... OMIM:620025
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... ORPHA:75565
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Scapular winging, Hypophosphaturia, Hyperlordosis, Clinodactyly of the 2nd finger, EEG abnormalit... ORPHA:73223
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Kyphosis... ORPHA:457359
Charge Syndrome
Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Hemivertebrae, Hand monodactyly, ... OMIM:214800
Eisenmenger Syndrome
Hepatomegaly, Renal insufficiency, Brain abscess, Ventricular septal defect, Elevated circulating... ORPHA:97214
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Singleton-Merten Syndrome 1
Mitral valve calcification, Hypoplastic distal radial epiphyses, Cardiomegaly, Coxa valga, Aortic... OMIM:182250
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Mitral valve calcification, Calcium nephrolithiasis, Abnormal circulating calcium c... ORPHA:60025
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Arachnodactyly, Bicuspid aortic valve, Scoliosis, Cardiomegaly ORPHA:91387
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Abnormal earlobe morphology, Cardiomegaly ORPHA:96191
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Pericardial effusion, ... OMIM:181000
Aspartylglucosaminuria
Hepatomegaly, Aspartylglucosaminuria, Abnormal morphology of ulna, Splenomegaly, Microtia, Scolio... ORPHA:93
Johanson-Blizzard Syndrome
Single transverse palmar crease, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, A... OMIM:243800
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Camptodactyly of finger, Facial palsy, Splenomegal... ORPHA:90340
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol... OMIM:619381
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Tinnitus, Hearing impairment, Cardiomegaly ORPHA:79280
Aspartylglucosaminuria
Hepatomegaly, Aspartylglucosaminuria, Kyphosis, Vacuolated lymphocytes, Platyspondyly, Spondyloly... OMIM:208400
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Eosinophilia, Portal hypertension, Hypercalc... ORPHA:797
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Lacrimoauriculodentodigital Syndrome 1
Preaxial polydactyly, Radial deviation of the 3rd finger, Triphalangeal thumb, Clinodactyly of th... OMIM:149730
Alström Syndrome
Thoracic scoliosis, Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis... ORPHA:64
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210

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 Zc3h8

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 Zc3h8.

No publications found that use IMPC mice or data for Zc3h8.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Zc3h8tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Zc3h8em1(IMPC)Ccpcz Exon Deletion Mice, Tissue
Zc3h8tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Zc3h8tm35180(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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