Gene Summary

Name:
cerberus 1, DAN family BMP antagonist
Synonyms:
Cerberus-like,  Cerr1,  cer-1,  Cerl,  Cerl1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged thymus Cer1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged spleen Cer1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Cer1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal vertebrae morphology Cer1em1(IMPC)Ccpcz HOM Early adult 1.44×10-07
vertebral transformation Cer1em1(IMPC)Ccpcz HOM Early adult 4.84×10-06
abnormal heart morphology Cer1em1(IMPC)Ccpcz HOM Early adult 0.00
small testis Cer1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Cer1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal testis morphology Cer1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Cer1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal vertebral arch morphology Cer1em1(IMPC)Ccpcz HOM Early adult 1.44×10-07

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Viewing: all phenotypes

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 Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Forepaw

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

Human diseases caused by Cer1 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 Cer1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mental Retardation, Autosomal Dominant 39
Aggressive behavior, Obesity OMIM:616521
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Aggressive behavior, Hyperactivity ORPHA:356996
Familial Alzheimer-Like Prion Disease
Emotional lability, Anxiety, Attention deficit hyperactivity disorder, Depression ORPHA:280397
Panic Disorder 1
Anxiety OMIM:167870
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Developmental And Epileptic Encephalopathy 56
Attention deficit hyperactivity disorder, Anxiety, Ataxia, Broad-based gait OMIM:617665
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Myoclonus-Dystonia Syndrome
Personality disorder, Dystonia, Depression, Writer's cramp, Panic attack, Torticollis, Anxiety ORPHA:36899
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Chorea, Benign Hereditary
Gait disturbance, Anxiety OMIM:118700
Dystonia 11, Myoclonic
Depression, Agoraphobia, Writer's cramp, Torticollis, Anxiety OMIM:159900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Huntington Disease-Like 2
Dystonia, Depression, Apathy, Weight loss, Bradykinesia, Irritability, Anxiety OMIM:606438
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Large for gestational age OMIM:240900
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Epilepsy, Progressive Myoclonic, 12
Depression, Difficulty walking, Ataxia, Anxiety, Dysmetria, Attention deficit hyperactivity disorder OMIM:619191
Ethanolaminosis
Cardiomegaly OMIM:227150
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Dystonia 12
Dystonia, Depression, Bradykinesia, Emotional lability, Torticollis, Unsteady gait, Anxiety OMIM:128235
Congenital Amegakaryocytic Thrombocytopenia
Scoliosis, Abnormal form of the vertebral bodies, Thrombocytopenia, Anemia, Abnormal cardiac sept... ORPHA:3319
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly, Kyphoscoliosis OMIM:300886
Geniospasm 1
Anxiety OMIM:190100
Adiposis Dolorosa
Obesity, Anxiety, Depression OMIM:103200
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Hurler-Scheie Syndrome
Abnormal vertebral morphology, Abnormal heart valve morphology, Hepatomegaly, Spinal canal stenos... ORPHA:93476
Ghosal Hematodiaphyseal Dysplasia
Abnormal form of the vertebral bodies, Anemia, Splenomegaly ORPHA:1802
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Anxiety, Attention deficit hyperactivity disorder, Obesity OMIM:618725
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inertia, Apathy, Bradykinesia, Falls, Anxiety, Inappropriate behavior, Short stepped shuffling ga... ORPHA:412066
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Broad-based gait, Obesity, Irritability, Abnorma... ORPHA:3077
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Macrosomia With Microphthalmia, Lethal
Large for gestational age OMIM:248110
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Depression, Bradykinesia, Emotional lability, Craniofacial dystonia, Torticollis, An... ORPHA:71517
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Hepatomegaly, Endocardial fibrosis, Splenomegaly, Myeloproliferative ... OMIM:607685
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Anxiety, Bradykinesia, Depression OMIM:605909
Autism, Susceptibility To, 18
Overweight, Anxiety, Tall stature OMIM:615032
Sandhoff Disease
Hepatomegaly, Kyphosis, Splenomegaly ORPHA:796
Mental Retardation With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Failure to thrive in infancy, Anxiety, Attention de... OMIM:613670
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Dystonia 26, Myoclonic
Depression, Blepharospasm, Laryngeal dystonia, Torticollis, Anxiety OMIM:616398
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Hepatomegaly, Hypogonadism, Anemia, Splenomegaly, Decreased mean corpus... OMIM:615234
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Reduced sperm motility, Splenomegaly OMIM:602271
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Huntington Disease-Like 1
Aggressive behavior, Depression, Unsteady gait, Anxiety, Dysmetria OMIM:603218
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism, Cardiomyopathy OMIM:613313
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Gait disturbance, Obesity ORPHA:436141
Bardet-Biedl Syndrome 7
Obesity OMIM:615984
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis
Paroxysmal dystonia, Anxiety OMIM:602066
Acromegaloid Facial Appearance Syndrome
Large for gestational age OMIM:102150
Hemochromatosis, Type 1
Cirrhosis, Azoospermia, Amenorrhea, Hepatocellular carcinoma, Impotence, Hepatomegaly, Testicular... OMIM:235200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Obesity ORPHA:329249
Hemochromatosis, Type 2A
Infertility, Cirrhosis, Azoospermia, Dilated cardiomyopathy, Amenorrhea, Hepatomegaly, Splenomega... OMIM:602390
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618495
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Rafiq Syndrome
Aggressive behavior, Obesity OMIM:614202
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Hypogonadism, Cardiomyopathy, Splenomegaly OMIM:608540
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Bardet-Biedl Syndrome 22
Obesity OMIM:617119
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Ovoid thoracolumbar vertebrae, Cardiomegaly, Splenom... OMIM:252920
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:613673
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Broad-based gait, Obesity ORPHA:411515
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormality of the thyroid gland, Abnormal calcium-phosphate regulating hormone lev... ORPHA:417
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Sclerotic vertebral endplates, Thrombocytopenia, Hepatomegaly, Anemia, Splenomeg... OMIM:611490
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
11P15.4 Microduplication Syndrome
Aggressive behavior, Obesity ORPHA:300305
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Bardet-Biedl Syndrome 12
Obesity OMIM:615989
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Male hypogonadism, Bilateral breast hypoplasia, Azoospermia, Oli... ORPHA:52901
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Splenomegaly, Anemia of inadequat... OMIM:237800
Immunodeficiency 61
Attention deficit hyperactivity disorder, Obesity OMIM:300310
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymphadenopathy ORPHA:100025
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hepatomegaly OMIM:614480
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Pure red cell aplasia, Anemia OMIM:618165
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Scoliosis, Cardiomegaly OMIM:618654
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Polysplenia, Bilateral c... ORPHA:457083
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Central vertebral hypoplasia, Hepatomegaly, Lumbar hyperlord... OMIM:602557
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Perry Syndrome
Dystonia, Disinhibition, Akinesia, Depression, Apathy, Weight loss, Bradykinesia, Anxiety, Inappr... OMIM:168605
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly ORPHA:721
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Macrosomia Adiposa Congenita
Large for gestational age, Obesity OMIM:248100
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Inability to walk, Dystonia, Ataxia, Waddling gait, Broad-based gait, Obesity OMIM:616756
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Diabete... OMIM:271500
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior, Obesity OMIM:617752
Fucosidosis
Scoliosis, Absent/hypoplastic coccyx, Vacuolated lymphocytes, Hepatomegaly, Anterior beaking of l... OMIM:230000
Summitt Syndrome
Obesity OMIM:272350
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Thrombocytopenia, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity OMIM:613987
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Idiopathic Intracranial Hypertension
Abnormal emotion/affect behavior, Obesity, Lethargy, Depression ORPHA:238624
Congenital Toxoplasmosis
Thrombocytopenia, Jaundice, Hepatomegaly, Cardiomegaly, Anemia, Ascites, Lymphadenopathy ORPHA:858
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79303
Chung-Jansen Syndrome
Aggressive behavior, Impulsivity, Anxiety, Attention deficit hyperactivity disorder, Obesity OMIM:617991
Congenital Bile Acid Synthesis Defect Type 3
Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, Congenital... ORPHA:79302
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia... OMIM:611881
Infantile Liver Failure Syndrome 3
Platyspondyly, Beaking of vertebral bodies, Hepatic steatosis, Hepatic bridging fibrosis, Cholest... OMIM:618641
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Laryngotracheoesophageal Cleft Type 4
Abnormal cardiac septum morphology, Abnormality of mesentery morphology, Abnormality of the splee... ORPHA:93941
Cold Agglutinin Disease
Hemolytic anemia, Back pain, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Gm1-Gangliosidosis, Type I
Scoliosis, Vacuolated lymphocytes, Beaking of vertebral bodies, Abnormal heart valve morphology, ... OMIM:230500
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Hypoplasia of the thymus, Cardiomegaly, Overriding aorta, Short neck, ... OMIM:617022
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Roifman Syndrome
Biconvex vertebral bodies, Noncompaction cardiomyopathy, Ventricular septal defect, Irregular ver... OMIM:616651
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Leukopenia, Splenomegaly OMIM:300972
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Asymmetric septal hypertrophy, Ovoid thoracolumbar vertebrae, Splenomegaly OMIM:252900
Mehmo Syndrome
Inability to walk, Gait ataxia, Aggressive behavior, Difficulty walking, Small for gestational ag... OMIM:300148
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Hepatomegaly OMIM:607616
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity, Bipolar affective disorder, Depression ORPHA:276630
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Blepharospasm, Anxiety, Bradykinesia OMIM:606324
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Hepatomegaly, Ascites, Cardiomegaly, Splenomegaly OMIM:269920
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Atrial septal defect, Short neck, Ventricular septal defect, P... OMIM:606003
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Cardiomegaly, ... ORPHA:324410
Cantu Syndrome
Platyspondyly, Ovoid vertebral bodies, Pericardial effusion, Cuboid-shaped vertebral bodies, Cong... OMIM:239850
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Cirrhosis, Amenorrhea, Erectile dysfunction, Hepatocellular carcinoma, Hypothyroidis... ORPHA:465508
Gaucher Disease Type 1
Cirrhosis, Kyphosis, Pericardial effusion, Biliary tract obstruction, Pancytopenia, Thrombocytope... ORPHA:77259
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Kaposiform Lymphangiomatosis
Enlarged kidney, Abnormal form of the vertebral bodies, Pancreatic cysts, Pericardial effusion, A... ORPHA:464329
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia of inadequat... OMIM:615631
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Proteus Syndrome
Lymphangioma, Kyphoscoliosis, Spinal canal stenosis, Splenomegaly OMIM:176920
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Decreased serum testosterone concentration, Splenomegaly, Decreased testicular size... OMIM:201100
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Hypochromia, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anisocytosis, Anemia, Sple... OMIM:616860
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Ascites, Anemia, Hypoplasia of penis, Hypospadias ORPHA:1046
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79301
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Obesity OMIM:264010
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Biliary atresi... OMIM:306955
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Primary amenorrhea, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Diabetes m... OMIM:612526
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Ascites, Splenomegaly... OMIM:256550
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Sialidosis Type 2
Hepatomegaly, Kyphosis, Ascites, Splenomegaly ORPHA:87876
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Isolated Anencephaly
Thymus hyperplasia, Maternal diabetes, Adrenal hypoplasia ORPHA:563609
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Cardiomegaly ORPHA:88643
Gaucher Disease, Type I
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Aortic valve stenosis, Hypersplenism,... OMIM:230800
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Splenomegaly, Cholestasis ORPHA:172
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Bilateral cryptorchidism, Cardiomegaly, Patent f... OMIM:618652
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red cell sickli... OMIM:603903
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly OMIM:618107
Mucopolysaccharidosis Type 6
Abnormal heart valve morphology, Ovoid vertebral bodies, Kyphosis, Splenomegaly, Short neck ORPHA:583
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Mucopolysaccharidosis, Type Vii
Scoliosis, Thoracolumbar kyphosis, Platyspondyly, Abnormal heart valve morphology, Cardiomyopathy... OMIM:253220
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
8P11.2 Deletion Syndrome
Cryptorchidism, Atrial septal defect, Hemolytic anemia, Azoospermia, Sacral dimple, Splenomegaly,... ORPHA:251066
Mucopolysaccharidosis, Type Iiic
Asymmetric septal hypertrophy, Hepatomegaly, Ovoid thoracolumbar vertebrae, Splenomegaly, Kyphosc... OMIM:252930
Alpha-N-Acetylgalactosaminidase Deficiency
Scoliosis, Cardiomegaly ORPHA:3137
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Hepatomegaly, Jaundice, Splenomegaly OMIM:214900
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Alpha-Mannosidosis
Scoliosis, Kyphosis, Hepatomegaly, Type II diabetes mellitus, Splenomegaly, Short neck ORPHA:61
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Vertebral segmentation defect ORPHA:3004
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Cryptorchidism, Atrial septal defect, Lymphopenia, Neutropenia... OMIM:612541
Amyloidosis, Familial Visceral
Hepatomegaly, Splenomegaly, Cholestasis OMIM:105200
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD4:C... OMIM:300853
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Low back pain, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia... ORPHA:86843
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Jaundice, Splenomegaly, Adrenal calcification ORPHA:75234
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,... OMIM:603554
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Abnormal vertebral morphology, Ventricular septal ... ORPHA:210122
Central Precocious Puberty
Overgrowth, Increased body weight, Obesity ORPHA:759
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver disease, Splenomegaly, He... OMIM:616828
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Fucosidosis
Hypothyroidism, Kyphosis, Hepatomegaly, Anterior beaking of lumbar vertebrae, Cardiomegaly, Abnor... ORPHA:349
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Unsteady gait, Obesity OMIM:618124
Wilson Disease
Acute hepatitis, Abnormality of the menstrual cycle, Cirrhosis, Hepatic steatosis, Back pain, Thr... ORPHA:905
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Adrenocorticotropic hormone excess, Adrenal insu... OMIM:609981
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:610333
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... OMIM:209950
Immunodeficiency 32B
Splenomegaly OMIM:226990
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Jaundice, Pulmonic valve myxoma, Ascites, Cardiomegaly, Bacterial en... ORPHA:615
Lcat Deficiency
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:650
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:615085
Attrv30M Amyloidosis
Impotence, Cardiomegaly, Cardiomyopathy ORPHA:85447
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Abnormality of the vertebral column, Abnormal vertebral morphology, Enlarged ki... OMIM:314390
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Ataxia-Oculomotor Apraxia Type 4
Dystonia, Ataxia, Obesity ORPHA:459033
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Hepatitis, Aplastic anemia, Splenomegaly OMIM:300635
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Mucopolysaccharidosis, Type Iiid
Asymmetric septal hypertrophy, Hepatomegaly, Ovoid thoracolumbar vertebrae, Splenomegaly, Short neck OMIM:252940
Mucopolysaccharidosis, Type Vi
Abnormal heart valve morphology, Ovoid vertebral bodies, Cardiomyopathy, Anterior wedging of L2, ... OMIM:253200
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Thrombocytopenia, Jaundice, Hepatomegaly, Type I... ORPHA:290
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Elevated hepatic iron concentration, Cirrhosis, Extramedul... ORPHA:231222
Pfapa Syndrome
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:42642
Hurler-Scheie Syndrome
Hepatomegaly, Scoliosis, Kyphosis, Splenomegaly OMIM:607015
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hepatomeg... OMIM:616689
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Dysplastic sacrum, Short neck, Cardiomegaly, Severe platyspondyly OMIM:613320
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Lymphoproliferative Syndrome 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Aplastic anemia, Ascites, Splenomegaly, Hepatosplen... OMIM:615122
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Ventricular septal defect, Ascites, Cardiomegaly, Hypospadias, Short neck, Micrope... OMIM:616897
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Cryptorchidism, Abnormality of the uterus, Short neck, Ventricular s... ORPHA:1655
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Self-mutilation, Overweight, Depression, Gait disturbance, Anxiety ORPHA:457240
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight, Broad-based gait OMIM:614450
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Portal hypertension, Hepatomegaly, Jaundice, Hepatic fibrosis, Splenomega... OMIM:616278
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Endocardial fibroelastosis, Decreased carnitine level in liver, Hepatomegaly, ... OMIM:212140
Obesity Due To Sim1 Deficiency
Attention deficit hyperactivity disorder, Obesity ORPHA:369873
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Gaucher Disease, Type Iiic
Mitral valve calcification, Pancytopenia, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomega... OMIM:231005
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Azoospermia, Ventricular septal defect, Hypergonadotropic hypogonadism, Dec... OMIM:602782
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal fibrosis, Bile ... OMIM:602347
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancreatitis, Anemia, Cardiomyopathy ORPHA:79312
Oculoskeletodental Syndrome
Scoliosis, Cryptorchidism, Thoracic kyphosis, Hypothyroidism, Hepatomegaly, Splenomegaly OMIM:618440
Mucopolysaccharidosis Type 7
Scoliosis, Anterior beaking of lumbar vertebrae, Hepatitis, Ascites, Splenomegaly, Short neck, An... ORPHA:584
Pycnodysostosis
Hyperlordosis, Abnormality of the vertebral column, Abnormal vertebral morphology, Kyphosis, Hepa... ORPHA:763
Leptin Receptor Deficiency
Aggressive behavior, Obesity OMIM:614963
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Cryptorchidism, Ventricular septal defect, Hepatomegaly, Thyroid lym... OMIM:235255
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Hyperinsulinemia, Splenomegaly ORPHA:66518
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cirrhosis, Oligomenorrhea, Irregular menstruation, Hepatocellular adenoma, Hepatocellular carcino... ORPHA:370
Bardet-Biedl Syndrome 19
Obesity OMIM:615996
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Aarskog-Scott Syndrome
Scoliosis, Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidi... OMIM:305400
Aredyld Syndrome
Scoliosis, Hepatomegaly, Type I diabetes mellitus, Type II diabetes mellitus, Splenomegaly ORPHA:1133
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Hurler Syndrome
Short neck, Biconcave vertebral bodies, C1-C2 subluxation, Kyphosis, Cardiomyopathy, Endocardial ... OMIM:607014
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:231000
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Hyperlordosis, Platyspondyly, Short neck, Abnormal vertebral morphology, Central verte... ORPHA:93352
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Cardiomegaly, Anemia OMIM:618838
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Wolfram Syndrome 1
Megaloblastic anemia, Hypothyroidism, Sideroblastic anemia, Thrombocytopenia, Testicular atrophy,... OMIM:222300
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Vacuolated lymphocytes, Increased hepatic echogenicity, Hepati... OMIM:278000
Hypertrichotic Osteochondrodysplasia, Cantu Type
Platyspondyly, Abnormal heart valve morphology, Ovoid vertebral bodies, Cuboid-shaped vertebral b... ORPHA:1517
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Increased body weight ORPHA:276608
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy ORPHA:158029
Triosephosphate Isomerase Deficiency
Chronic hemolytic anemia, Hemolytic anemia, Kyphosis, Cholelithiasis, Normocytic anemia, Jaundice... OMIM:615512
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly ORPHA:108
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Ascites, Cardiomegaly, Ventricular s... OMIM:115197
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Platyspondyly, Aplasia of the thymus, Autoimmune thrombocytopenia, Auto... OMIM:102700
Sialidosis Type 1
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies, Splenomegaly ORPHA:812
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Wolman Disease
Bone-marrow foam cells, Hepatomegaly, Adrenal insufficiency, Ascites, Anemia, Splenomegaly, Adren... ORPHA:75233
Mevalonic Aciduria
Splenomegaly ORPHA:29
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Maternal diabetes, Oligomenorrhea, Hepatic steatosis, Primary amenorrhea, Polycystic o... ORPHA:79083
Timothy Syndrome
Ventricular septal defect, Hypothyroidism, Cardiomegaly, Patent foramen ovale, Tetralogy of Fallot OMIM:601005
Baralle-Macken Syndrome
Inability to walk, Dystonia, Obesity OMIM:619255
Juvenile Idiopathic Arthritis
Pericardial effusion, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormal sacroilia... ORPHA:92
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:211600
Sialuria
Hepatomegaly, Hypoplastic nipples, Scoliosis, Splenomegaly OMIM:269921
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Abnormal vertebral morphology, Ventricular septal defect, Hemivertebrae, Hypoplas... ORPHA:77298
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Self-injurious behavior, Aggressive behavior, Obesity OMIM:600430
Sclerosing Cholangitis, Neonatal
Cirrhosis, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis, Hepatomegaly, Jaundice, Spleno... OMIM:617394
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Pulmonic stenosis, Ascites, Splenomegaly, Chylopericardium ORPHA:2414
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Ascites, Cardiomegaly, Pericardial constriction OMIM:253250
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Akinesia, Obesity OMIM:618822
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Cardiomegaly, Anemia OMIM:618886
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:615846
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Prolonged neonatal jaundice, Hepatomegaly, Splenomegaly OMIM:618892
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight, Depression OMIM:615954
Opsismodysplasia
Hepatomegaly, Abnormally ossified vertebrae, Hypoplastic vertebral bodies, Splenomegaly ORPHA:2746
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight, Aggressive behavior OMIM:300860
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Joubert Syndrome 32
Large for gestational age, Ataxia, Tall stature OMIM:617757
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Increased vertebral height, Thoracic kyphoscoliosis, Hypothyroidism, Hashimoto thyroiditis, Pancy... OMIM:613385
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemi... ORPHA:507
Mucolipidosis Ii Alpha/Beta
Lower thoracic interpediculate narrowness, Beaking of vertebral bodies T12-L3, Ovoid vertebral bo... OMIM:252500
Meacham Syndrome
Cryptorchidism, Ambiguous genitalia, Anomalous pulmonary venous return, Situs inversus totalis, A... ORPHA:3097
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly OMIM:266200
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries, Splenomegaly ORPHA:2969
Dominant Beta-Thalassemia
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231226
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Secondary amenorrhea, Pancreatitis, Splenome... ORPHA:2348
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79477
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Lymphadenopathy, Splenomegaly ORPHA:85414
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil co... ORPHA:3226
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Pigmented Nodular Adrenocortical Disease, Primary, 4
Emotional lability, Increased body weight, Depression OMIM:615830
Neonatal Lupus Erythematosus
Hemolytic anemia, Abnormal heart morphology, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatom... ORPHA:398124
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Splenomegaly ORPHA:3035
Glycogen Storage Disease Ixc
Hepatomegaly, Bile duct proliferation, Cirrhosis, Splenomegaly OMIM:613027
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal hypertension ORPHA:59303
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Adult-Onset Still Disease
Pericarditis, Leukocytosis, Myocarditis, Generalized lymphadenopathy, Hepatomegaly, Hepatitis, Sp... ORPHA:829
Abcd Syndrome
Large for gestational age OMIM:600501
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Smith-Magenis Syndrome
Head-banging, Self-mutilation, Increased body weight, Hyperactivity OMIM:182290
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Abnormal heart morphology, Intrahepatic biliary dysgenesis, Hepatomegaly, Jaundic... OMIM:614866
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Gaucher Disease, Type Ii
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:230900
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreatic hypoplasia, ... OMIM:610199
Beta-Thalassemia Major
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231214
Angelman Syndrome Due To A Point Mutation
Inappropriate laughter, Ataxia, Happy demeanor, Gait imbalance, Broad-based gait, Obesity ORPHA:411511
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Tall stature, Ataxia, Anxiety, Hyperactivity, Obesity OMIM:618430
Greenberg Dysplasia
Vertebral hypoplasia, Platyspondyly, Supernumerary vertebral ossification centers, Punctate verte... OMIM:215140
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Gm1 Gangliosidosis
Scoliosis, Hyperlordosis, Platyspondyly, Abnormality of the scrotum, Abnormal form of the vertebr... ORPHA:354
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Menometrorrhagia, Polycystic ovaries, Pancreatitis, Splenomegaly, T... ORPHA:90970
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Scoliosis, Splenomegaly OMIM:612918
Halothane Hepatitis
Obesity OMIM:234350
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Craniofaciofrontodigital Syndrome
Short neck, Hypoplastic vertebral bodies, Cardiomegaly, Abnormal heart morphology OMIM:114620
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly OMIM:607271
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Sandwich appearance of verteb... OMIM:259700
Griscelli Syndrome
Abnormality of neutrophils, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatitis, Ascites, Leukope... ORPHA:381
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
13Q12.3 Microdeletion Syndrome
Self-mutilation, Hyperactivity, Failure to thrive, Obesity ORPHA:412035
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Gait disturbance, Unsteady gait, Dysmetria, Obesity ORPHA:93952
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Insulinoma
Increased body weight, Lethargy, Anxiety ORPHA:97279
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Anemia of inadeq... OMIM:612714
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepatitis, Splenomegaly, Acholic stools OMIM:613812
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Restrictive cardiomyopathy,... ORPHA:822
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatomegaly, Intermittent jaundic... OMIM:601847
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnormality of the spleen ORPHA:85212
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Cardiomyopathy, Macrocytic anemia OMIM:619046
Immunodeficiency, Common Variable, 7
Splenomegaly OMIM:614699
Adams-Oliver Syndrome 5
Pulmonic stenosis, Right atrial enlargement, Right ventricular hypertrophy, Hypersplenism, Spleno... OMIM:616028
Kagami-Ogata Syndrome
Atrial septal defect, Ventricular septal defect, Hepatomegaly, Pulmonic stenosis, Splenomegaly, K... OMIM:608149
American Trypanosomiasis
Lymphadenopathy, Hepatomegaly, Splenomegaly, Myocarditis, Cardiomyopathy ORPHA:3386
Tangier Disease
Hepatomegaly, Left ventricular hypertrophy, Splenomegaly OMIM:205400
Lymphatic Malformation 6
Scoliosis, Hydrocele testis, Atrial septal defect, Hypothyroidism, Ascites, Splenomegaly, Intesti... OMIM:616843
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Omenn Syndrome
Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Hypothyroidism, Lymphadenopathy, Hepat... ORPHA:39041
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Jaundice, Hemolytic anemia, Splenomegaly OMIM:608885
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cirrhosis, Oligomenorrhea, Irregular menstruation, Hepatocellular adenoma, Hepatic steatosis, Cho... ORPHA:264580
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:615630
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Cirrhosis, Splenomegaly OMIM:613489
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hepatic steatosis, Cardiomegaly OMIM:255120
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
Zimmermann-Laband Syndrome
Hepatomegaly, Short neck, Abnormal external genitalia, Splenomegaly ORPHA:3473
Mucopolysaccharidosis Type 1
Scoliosis, Abnormal form of the vertebral bodies, Abnormal heart valve morphology, Abnormal aorti... ORPHA:579
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Inappropriate laughter, Ataxia, Happy demeanor, Hyperactivity, Gait imbalance, Broad-based gait, ... ORPHA:98794
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Lymphopenia, Impaired oxidative burst, Ac... OMIM:618935
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly OMIM:616050
Hurler Syndrome
Scoliosis, Short neck, Abnormal vertebral morphology, Abnormal heart valve morphology, Endocardia... ORPHA:93473
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cryptorchidism, Cardiomegaly, Scoliosis OMIM:618143
Felty Syndrome
Pericarditis, Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia... ORPHA:47612
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Scoliosis, Cryptorchidism, Atrial septal defect, Left ventricular noncompaction cardiomyopathy, V... OMIM:300967
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Hyperlordosis, Spinal rigidity, Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Hepatomegaly, Cardiomegaly, Hype... OMIM:201475
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Enlarged kidney, Macrovesicular hepatic steatosis, Neutropenia, Thrombocyto... OMIM:617303
Aicardi-Goutieres Syndrome 1
Hypothyroidism, Thrombocytopenia, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Diabet... OMIM:225750
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:98375
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Splenomegaly OMIM:235555
Mucopolysaccharidosis, Type Ii
Abnormal heart valve morphology, Kyphosis, Hepatomegaly, Splenomegaly, Short neck OMIM:309900
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, Thrombocytope... OMIM:308230
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Impotence OMIM:268800
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Resistance To Thyrotropin-Releasing Hormone Syndrome
Lethargy, Overweight, Depression ORPHA:99832
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Stomatocytosis, Increased mean platelet volume, Menorrhagia, Splenomegaly OMIM:153670
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Gaucher Disease, Perinatal Lethal
Thrombocytopenia, Hepatomegaly, Cardiomegaly, Anemia, Splenomegaly, Ascites, Hepatosplenomegaly OMIM:608013
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Hepatic... OMIM:251880
Immunodeficiency 60
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatic cysts, Periportal fibrosis, Pancreatic cysts, Hepatomegaly, Splenomegaly... OMIM:263200
Lipodystrophy, Congenital Generalized, Type 4
Hyperlordosis, Scoliosis, Hyperinsulinemia, Hepatic steatosis, Hepatomegaly, Spinal rigidity, Spl... OMIM:613327
Legionnaires Disease
Endocarditis, Pericarditis, Myocarditis, Lymphopenia, Jaundice, Hepatitis, Pancreatitis, Splenome... ORPHA:549
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Osteopetrosis With Renal Tubular Acidosis
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly ORPHA:2785
Adiposis Dolorosa
Obesity, Anxiety, Depression ORPHA:36397
Luscan-Lumish Syndrome
Anxiety, Overgrowth, Aggressive behavior, Obesity OMIM:616831
Immunodeficiency 36
Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Hardikar Syndrome
Ventricular septal defect, Hepatomegaly, Jaundice, Cholangitis, Vaginal atresia, Splenomegaly, Pa... OMIM:612726
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic steatosis, Cardiomegaly ORPHA:42
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Hepatomegaly, Fused cervical vertebrae, Splenomegaly OMIM:612852
Mannosidosis, Alpha B, Lysosomal
Thoracolumbar kyphosis, Increased vertebral height, Vacuolated lymphocytes, Spondylolisthesis, He... OMIM:248500
Zimmermann-Laband Syndrome 1
Scoliosis, Long penis, Hepatomegaly, Spina bifida occulta, Splenomegaly, Cardiomyopathy OMIM:135500
Amyloidosis, Hereditary, Transthyretin-Related
Impotence, Cardiomegaly, Cardiomyopathy OMIM:105210
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly, ... OMIM:607765
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Sézary Syndrome
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:3162
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Lumbar hemivertebrae, Abnormality of the thymus ORPHA:2463
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Reticulocytosis, Hepatomegaly,... OMIM:618278
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:619183
Multiple Sulfatase Deficiency
Hepatomegaly, Hypoplastic vertebral bodies, Splenomegaly OMIM:272200
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatomegaly, Splenomegaly... OMIM:616100
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Sea-blue histiocytosis, Hepatomegaly, Prolonged neonat...