Gene Summary

Name:
nitric oxide synthase 2, inducible
Synonyms:
NOS-II,  Nos2a,  Nos-2,  iNOS

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
abnormal eye anterior chamber depth Nos2em1(IMPC)Bay HOM Early adult 6.16×10-07
decreased thigmotaxis Nos2em1(IMPC)Bay HOM   Early adult 4.91×10-05

Download data as:  TSV  XLS

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

Eye Morphology

VIP of left eye

15 Images

Eye Morphology

VIP of right fundus

14 Images

Eye Morphology

VIP of right eye

15 Images

X-ray

XRay Images Forepaw

7 Images

X-ray

XRay Images Skull Lateral Orientation

7 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

Eye Morphology

VIP of left fundus

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

X-ray

XRay Images Whole Body Dorso Ventral

7 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Nos2 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 Nos2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Uridine-Cytidineuria
Elevated urinary cytidine OMIM:618477
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Immunodeficiency 18
Recurrent gastroenteritis, Defective T cell proliferation, Recurrent respiratory infections, Recu... OMIM:615615
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections, Abnor... OMIM:308220
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Candidiasis, Familial, 1
Recurrent viral infections, Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Morbid Obesity And Spermatogenic Failure
Infertility, Type II diabetes mellitus, Premature coronary artery atherosclerosis, Increased LDL ... OMIM:615703
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Lupus Erythematosus Tumidus
Anti-La/SS-B antibody positivity, Antinuclear antibody positivity, Autoimmune antibody positivity... ORPHA:90283
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Primary amenorrhea, Secondary amenorrhea, Hyperuricemia, Polycystic o... ORPHA:79083
Immunodeficiency 24
Decreased circulating IgG level, Defective T cell proliferation, Decreased specific pneumococcal ... OMIM:615897
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Supraventricular arrhythmia, Pancreatitis, Hepatomegaly, Accelerated atherosclerosis, Secondary a... ORPHA:280365
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent o... OMIM:613501
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Irregular menstruation, Decreased... OMIM:615238
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia OMIM:615206
Plin1-Related Familial Partial Lipodystrophy
Infertility, Hyperinsulinemia, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Hy... ORPHA:280356
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus OMIM:614420
Dentin Dysplasia
Abnormality of dental morphology, Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Sudden cardiac death, Gout, Impaired glucose tolerance, Hype... OMIM:610947
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Arthritis, Recurrent sinusi... OMIM:300310
Alstrom Syndrome
Hyperinsulinemia, Hepatomegaly, Chronic active hepatitis, Otitis media, Hypergonadotropic hypogon... OMIM:203800
Familial Partial Lipodystrophy, Dunnigan Type
Myalgia, Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Polycystic ovaries, Coronary art... ORPHA:2348
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Leptin Deficiency Or Dysfunction
Micropenis, Recurrent upper respiratory tract infections, Primary amenorrhea, Decreased serum lep... OMIM:614962
Trichodentoosseous Syndrome
Taurodontia, Increased bone mineral density, Microdontia, Widely spaced teeth, Abnormal hair morp... OMIM:190320
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Excessive insulin response to glucagon test, Large for gestationa... ORPHA:324575
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Exercise intolerance, Diarrhea, Vomiting, Cholestasis, Hepatocellular adenoma, Poly... ORPHA:370
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Polycystic ovaries, Diabetes mellitus, Insulin resi... ORPHA:79084
Thrombocytopenic Purpura, Autoimmune
Platelet antibody positive OMIM:188030
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, A... ORPHA:369
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplas... ORPHA:276580
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Exercise intolerance, Diarrhea, Vomiting, Cholestasis, Hepatocellular adenoma, Poly... ORPHA:264580
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Lipe-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Abnormal labia majora morphology, Polycystic ovaries, Elevated circ... ORPHA:435660
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Polycystic ovaries, Oligomenorrhea, Decreased serum leptin, Hypertr... ORPHA:79085
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Oligomenorrhea, Decreased serum leptin, Hypertriglyce... ORPHA:435651
Preeclampsia
Abnormality of the hepatic vasculature, Chronic kidney disease, Abdominal pain, Small for gestati... ORPHA:275555
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoketotic hy... ORPHA:276556
Neutral Lipid Storage Disease With Myopathy
Myalgia, Hepatomegaly, Exercise intolerance, Elevated circulating creatine kinase concentration, ... OMIM:610717
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Aminoaciduria, Lacticaciduria, Elevated circulating creatine... OMIM:619386
Complement Component C1S Deficiency
Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:613783
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... OMIM:242870
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Finger joint hypermobility, Generalized hypoplasia o... ORPHA:49042
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Retinal Venous Beading
Saccular conjunctival dilatations, Vitreous hemorrhage, Nephritis, Retinal neovascularization, Ne... OMIM:180080
C1Q Deficiency
Systemic lupus erythematosus, Autoimmunity OMIM:613652
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Cirrhosis, Polycystic ovaries, Primary amenorrhea, M... OMIM:604367
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... OMIM:232700
Nephrotic Syndrome, Type 16
Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Steatorrhea, Hepatic failure, Diarrhea, Elevated circulating aspartate aminotransfe... OMIM:278000
Primary Lipodystrophy
Angina pectoris, Myalgia, Hyperlipidemia, Type II diabetes mellitus, Pancreatitis, Splenomegaly, ... ORPHA:90970
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Post-vaccination polio, Recurrent infections, Recurrent otitis media OMIM:616941
Immunodeficiency 66
Defective T cell proliferation, Pustule, Recurrent skin infections, Sepsis, Meningitis OMIM:618847
Mannose-Binding Lectin Deficiency
Failure to thrive, Recurrent skin infections, Recurrent Klebsiella infections, Recurrent meningoc... OMIM:614372
Hypergonadotropic Hypogonadism-Cataract Syndrome
Recurrent fractures, Reduced bone mineral density, Hypergonadotropic hypogonadism, Osteoporosis, ... ORPHA:2410
Hyperostosis Corticalis Generalisata
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyp... ORPHA:3416
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density, Diabetes mellitus OMIM:602475
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Osteoporosis OMIM:233300
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... OMIM:613313
Congenital Generalized Lipodystrophy
Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Pro... ORPHA:528
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Eosinophilic infiltration of the esophagus, Cerebral vasculitis, Ecz... OMIM:243700
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Chronic hepati... ORPHA:572
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Decreased circulating IgA level, Decreased circulating IgG level, Recurre... OMIM:613502
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Recurrent bacterial infections, Neutropenia, Recurrent... OMIM:616022
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Prominent superficial veins, Insulin-resi... OMIM:608600
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... OMIM:613493
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Exercise intolerance, Diarrhea, Vomiting, Hepatocellular adenoma, Polycystic ovarie... ORPHA:79240
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Decreased response to growth hormone stimulation test, Decreased circul... ORPHA:95619
Endosteal Hyperostosis, Worth Type
Torus palatinus, Clavicular sclerosis, Generalized osteosclerosis, Mandibular prognathia, Abnorma... ORPHA:2790
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... OMIM:612692
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herpes, Fluctuating splenome... OMIM:619220
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:613500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Glanzmann Thrombasthenia 1
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:273800
Dysbetalipoproteinemia
Angina pectoris, Peripheral arterial stenosis, Hepatomegaly, Premature coronary artery atheroscle... ORPHA:412
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypoglycemia, E... OMIM:232400
Immunodeficiency 95
Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections... OMIM:619773
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Alopecia, Osteoporosis, Carious teeth, Increased... OMIM:136300
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Reduced bone mineral density, Rhegmatogenous retinal detachment, Peripheral ... ORPHA:891
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Acne, Macroorchidism ORPHA:3000
Lipodystrophy, Familial Partial, Type 2
Myalgia, Type II diabetes mellitus, Hyperinsulinemia, Hepatomegaly, Labial pseudohypertrophy, Dec... OMIM:151660
Mpi-Cdg
Decreased liver function, Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Abnorma... ORPHA:79319
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Recurrent viral infections, Increased circulating antibody level, Increased circula... ORPHA:169154
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Eczema, Defective T cell proliferation, Recurrent infections OMIM:614493
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Severe varicella zoster infection, Decreas... OMIM:300853
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Recurrent fractures, Hypoplasia of the ovary, Reduced circulating prolactin concentration, Reduce... ORPHA:2235
Severe Neurodegenerative Syndrome With Lipodystrophy
Neuronal loss in central nervous system, Hyperinsulinemia, Hepatomegaly, Cerebral atrophy, Cirrho... ORPHA:363400
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Cerebral cortical atrophy, Nephrotic syndrome, Nephropathy, Cer... ORPHA:1192
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent Haemophilus influenzae infection... ORPHA:276
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Recurren... OMIM:613496
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Hemochromatosis Type 2
Increased circulating ferritin concentration, Impotence, Abnormality of endocrine pancreas physio... ORPHA:79230
African Iron Overload
Increased circulating ferritin concentration, Abnormal heart morphology, Abnormal pancreas morpho... ORPHA:139507
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Abnormality of th... OMIM:155100
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Chest pain, Hypertension, Hypercholesterolemia OMIM:608320
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Citrullinemia Type Ii
Night sweats, Pancreatitis, Hepatomegaly, Diarrhea, Vomiting, Abnormal eating behavior, Tremor, A... ORPHA:247585
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Hypoglycemia,... ORPHA:181393
Epidermolysis Bullosa, Junctional 1A, Intermediate
Oral mucosal blisters, Hypodontia, Patchy alopecia, Camptodactyly of finger, Carious teeth, Ename... OMIM:226650
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:613494
Immunodeficiency 64
Failure to thrive, Decreased lymphocyte proliferation in response to mitogen, Decreased circulati... OMIM:618534
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... OMIM:605258
Glanzmann Thrombasthenia 2
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619267
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgE level, Increased circu... OMIM:618982
Propionic Acidemia
Failure to thrive, Pancreatitis, Hepatomegaly, Cerebellar hemorrhage, Hyperammonemia, Hyperglycin... OMIM:606054
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... OMIM:619374
Lipodystrophy, Familial Partial, Type 4
Stroke, Oligomenorrhea, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resist... OMIM:613877
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Osteopetrosis, Autosomal Dominant 1
Mandibular pain, Osteopetrosis, Torus palatinus, Generalized osteosclerosis, Calvarial osteoscler... OMIM:607634
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... ORPHA:275
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormal retinal vascular morphology, Skin rash, Raynaud phenomenon, Hypertension, Sepsis, Macula... ORPHA:247691
Selective Igm Deficiency
Keratitis, Onychomycosis, Multiple myeloma, Recurrent infection of the gastrointestinal tract, Ot... ORPHA:331235
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Increased bone mineral density, Craniosynostosis ORPHA:178377
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypopituitar... OMIM:144600
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypopituitar... OMIM:145750
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Failure to thrive, Colitis, Viral hepatitis, Recurrent fungal inf... OMIM:209920
Gnathodiaphyseal Dysplasia
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Broad jaw, Thickened cortex of long bones ORPHA:53697
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei... OMIM:310350
Whim Syndrome 1
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... OMIM:193670
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Tricho-Dento-Osseous Syndrome
Taurodontia, Abnormal hair quantity, Increased bone mineral density, Periapical tooth abscess, Mi... ORPHA:3352
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... OMIM:240500
Immunodeficiency 25
Recurrent candida infections, Increased circulating IgA level, Recurrent herpes, Eosinophilia, In... OMIM:610163
Masp2 Deficiency
Systemic lupus erythematosus OMIM:613791
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Foot acroosteolysis, Osteolysis, Dystrophic toenail, Dystrophic fin... ORPHA:970
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal s... OMIM:144750
Isolated Osteopoikilosis
Joint stiffness, Abnormality of the endocrine system, Abnormal bone ossification, Sclerosis of fo... ORPHA:166119
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Mandibular osteomyelitis, Abnormal number of teeth, Abnormal cementum morpho... ORPHA:83451
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... OMIM:245480
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta, Osteoporosis ORPHA:71267
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Myocardial infarction, Glomerular subendothelial elec... ORPHA:54370
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pulmonary venous hypertension, Pancreatitis, Hepatomegaly, Diarrhea, Gout, Hepatocellular adenoma... ORPHA:79259
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Stroke, Proteinuria, Transient ischemic attack, Stage 5 chronic kidney disease, Abn... ORPHA:1830
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Sepsis, Epididymitis, Chronic sinusitis, Pneumonia, Decr... ORPHA:183675
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Vasculitis in the skin, Eczema, Sepsis, Chronic sinu... ORPHA:443811
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Thickened glomerular basement membrane, Proteinuria, Dystonia, Weight loss, Pericar... OMIM:619487
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia, Hypertension, Raynaud phenomenon ORPHA:401945
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:173590
Functioning Gonadotropic Adenoma
Increased serum testosterone level, Adrenocorticotropic hormone deficiency, Abnormal prolactin le... ORPHA:91348
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... OMIM:618620
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal B cell count, Recurrent viral infections, Abnormal T cell count, Recurren... ORPHA:331206
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Abnormality of the thyroid gland, Cerebral cortical atrophy,... ORPHA:77296
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Abdominal cramps, Constipation, Allodynia, Abdominal pain, Cachexia, Diarrhea, Vom... OMIM:603041
Hypoalphalipoproteinemia, Primary, 1
Myocardial infarction, Decreased HDL cholesterol concentration, Premature coronary artery atheros... OMIM:604091
Exudative Vitreoretinopathy 1
Recurrent fractures, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachm... OMIM:133780
Niemann-Pick Disease, Type B
Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decreased acid sphingomyelin... OMIM:607616
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Dentinogenesis imperfecta, Limitation of joint mobility, Patho... ORPHA:166277
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Dilated cardiomyopathy, Elevated circulating alanine aminotransferase... OMIM:618805
Sclerosteosis
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis ORPHA:3152
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Hepatomegaly, 3-Methylglutaric aciduria, Exerci... ORPHA:26791
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Steatorrhea, Hepatic failure, Cir... OMIM:602579
Cernunnos-Xlf Deficiency
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... ORPHA:169079
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Dental malocclusion, Osteosclerosis of th... ORPHA:210110
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis ORPHA:564003
Late-Onset Junctional Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Enamel hypoplasia, Nail dystrophy, Hyperhidrosis ORPHA:79406
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Truncal obesity, Hypertriglyceri... OMIM:616222
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent fractures, Eczematoid dermatitis, Recurrent fungal infections, Joint hypermobility, Ski... OMIM:147060
Non-Functioning Pituitary Adenoma
Anemia of inadequate production, Impotence, Decreased fertility in males, Central adrenal insuffi... ORPHA:91349
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Adrenal calcification, Diarrhea, Hypertri... ORPHA:75234
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Polycystic o... ORPHA:79086
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral density, Thin bony cortex, D... OMIM:619795
Werner Syndrome
Slender build, Telangiectasia of the skin, Type II diabetes mellitus, Ovarian neoplasm, Thyroid c... ORPHA:902
Extracranial Carotid Artery Aneurysm
Pain, Stroke, Subarachnoid hemorrhage, Cerebral ischemia, Vasculitis, Total anomalous pulmonary v... ORPHA:494424
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Congenital hepatic fibrosis, Hypoglycemia, Abnormal... ORPHA:446
Phenylketonuria
Aminoaciduria ORPHA:716
Seckel Syndrome 10
Glucose intolerance, Ventricular hypertrophy, Elevated hemoglobin A1c, Elevated circulating lutei... OMIM:617253
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Abnormal cardiac ventricu... ORPHA:439232
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial... OMIM:202700
Lysosomal Acid Lipase Deficiency
Stroke, Elevated circulating alkaline phosphatase concentration, Steatorrhea, Hepatic failure, Di... ORPHA:275761
Polyembryoma
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... ORPHA:180229
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... OMIM:614868
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Pancreatitis, Hepatomegaly, Cerebellar hemorrhage, Hyperammonemia, Methylmalon... OMIM:251000
Immunodeficiency 50
Lymphopenia, Eczema, Recurrent urinary tract infections, Decreased circulating antibody level, Ne... OMIM:300988
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Abnormal enzyme/coenzyme activity, Decreased circulat... ORPHA:171706
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Hepatomegaly, Pancreatitis, Stroke, Splenomegaly, Hyperammonemia, Abdominal pa... ORPHA:79312
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Sepsis, Decreased circulating IgE, Decreased circulating IgA l... OMIM:308230
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Hyperbilirubinemia, Micronodular cirrho... OMIM:251880
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposit... ORPHA:85450
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, B lymphocytopenia, Type I diabetes mellitus, Erythroderma, Recurrent viral infections, De... OMIM:606367
Alopecia Areata 1
Autoimmunity OMIM:104000
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Recurrent opportunistic infecti... ORPHA:911
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Osteogenesis Imperfecta, Type V
Recurrent fractures, Limited pronation/supination of forearm, Dentinogenesis imperfecta, Hyperext... OMIM:610967
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Serositis, Elevated circulati... ORPHA:567544
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Neutropenia, Recur... ORPHA:70592
Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Hyperlipidemia, Pancreatitis, Hepatomegaly, Inflammatory abnormality of the skin... ORPHA:565612
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Proteinuria, Chronic Benign
Renal insufficiency, Albuminuria, Proteinuria OMIM:618884
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Diaphyseal sclerosis, Elevated circulating parathyroid hormone level, Craniof... OMIM:122860
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Hypotension, Polyphagia, Postural hypotension with compens... ORPHA:369873
Galactokinase Deficiency
Failure to thrive, Increased level of galactitol in urine, Hyperinsulinemia, Hepatomegaly, Abnorm... ORPHA:79237
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Hyper... OMIM:161900
Mahvash Disease
Type II diabetes mellitus, Abdominal pain, Palpitations, Pancreatic alpha-cell hyperplasia, Recur... OMIM:619290
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase co... OMIM:619868
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Multiple myeloma, Abnormal circulating fatty-acid concentration, Glycosuria, Ab... ORPHA:2298
Coach Syndrome 2
Hyperechogenic kidneys, Congenital hepatic fibrosis, Elevated hepatic transaminase, Elevated circ... OMIM:619111
Immunodeficiency 102
Sepsis, Partial absence of specific antibody response to unconjugated pneumococcus vaccine, B lym... OMIM:301082
Anterior Cutaneous Nerve Entrapment Syndrome
Decreased body weight, Back pain, Allodynia, Abdominal pain, Recurrent urinary tract infections, ... ORPHA:51890
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Recurrent infections OMIM:235900
Immunodeficiency 23
Vasculitis in the skin, Eczema, Abscess, Increased circulating IgG level, Severe varicella zoster... OMIM:615816
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections,... OMIM:608184
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Complement Component 7 Deficiency
Recurrent meningococcal disease, Decreased serum complement C7, Recurrent Neisserial infections OMIM:610102
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Myocardial infarction OMIM:108725
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618187
Temple Syndrome
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... ORPHA:254516
Adult Idiopathic Neutropenia
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... ORPHA:2688
Glycogen Storage Disease Ia
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232200
Amelogenesis Imperfecta, Type Ij
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta OMIM:617297
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy, Renal agenesis, Abnormality of the kidney, Renal dyspla... OMIM:615993
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Steatorrhea, Hypergonadotropic hypogonadism, Diarrhea, Vomiting, Tremor, Proteinuri... OMIM:212065
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infe... OMIM:618495
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amenorrhea, Hypertriglyceri... OMIM:612526
Acne Inversa, Familial, 3
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613737
Thymic Aplasia
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... ORPHA:83471
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, ... OMIM:613179
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve... OMIM:619632
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Complement Component 6 Deficiency
Recurrent meningococcal disease, Decreased serum complement C6, Reduced hemolytic complement acti... OMIM:612446
Hermansky-Pudlak Syndrome 9
Ocular albinism, Recurrent skin infections, Leukopenia, Abnormal platelet aggregation, Thrombocyt... OMIM:614171
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... OMIM:617156
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Gastroesophageal reflux, Hyperammonem... OMIM:201475
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Decreased circulating IgA level, Recurrent fungal infections, Chronic oral can... OMIM:300400
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Recurrent upper respira... ORPHA:277
Al Amyloidosis
Autonomic erectile dysfunction, Hepatomegaly, Elevated circulating alkaline phosphatase concentra... ORPHA:85443
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Infertility, Iridocyclitis, Type II diabetes mellitus, Pancreatitis, Hand tremor, Delayed menarch... ORPHA:412057
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, Re... OMIM:618048
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Elevated circulati... ORPHA:263455
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenom... OMIM:607624
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Increased circulating antibody level, Decreased lymphocyte prolifer... ORPHA:169160
+173470 integrin, beta-3
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Intracranial hemo... OMIM:173470
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, ST segment depression, Left ventricular hypertrophy, Vomiting, Cerebral isch... ORPHA:90065
Lipodystrophy, Congenital Generalized, Type 2
Hyperinsulinemia, Hepatomegaly, Tall stature, Clitoral hypertrophy, Polycystic ovaries, Decreased... OMIM:269700
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... OMIM:601859
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Recurrent ... OMIM:614963
Immunodeficiency 27A
Histiocytosis, Leukocytosis, Splenomegaly, Anemia, Hepatosplenomegaly, Increased circulating IgG ... OMIM:209950
Tangier Disease
Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Decreased HDL cholesterol concentration... OMIM:205400
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hepatic fibrosis... OMIM:614480
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... OMIM:618944
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Nephrotic syndrome, Splenomegaly, Increased circulating IgG level, R... OMIM:603909
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... ORPHA:319552
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Hypohidrosis, Carious teeth, Enamel hypoplasia, Thick vermilion border, Sparse lateral eyebrow, R... ORPHA:363523
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... OMIM:231100
Lipase Deficiency, Combined
Hypertriglyceridemia, Type II diabetes mellitus, Pancreatitis OMIM:246650
Lipodystrophy, Congenital Generalized, Type 1
Nephrolithiasis, Hyperinsulinemia, Hepatomegaly, Tall stature, Splenomegaly, Cirrhosis, Decreased... OMIM:608594
Gaisböck Syndrome
Angina pectoris, Stroke, Gout, Increased circulating renin level, Myocardial infarction, Hyperuri... ORPHA:90041
Legionnaires Disease
Myalgia, Pancreatitis, Abdominal pain, Splenomegaly, Diarrhea, Arrhythmia, Endocarditis, Hypotens... ORPHA:549
Perrault Syndrome 1
High palate, Increased circulating gonadotropin level, Osteoporosis OMIM:233400
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating reverse T3 concentration, Elevated circulating rT3/T3 ratio, Hypercholestero... OMIM:619855
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Cerebral atrophy, Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava dr... OMIM:613759
Mueller-Weiss Syndrome
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... ORPHA:566943
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Breast carcinoma, Decreased circulating cortisol level, Mal... ORPHA:90790
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Hypoalbuminemia, Proteinuria, Hypertension, S... OMIM:603278
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Seizure, Joint hypermobili... ORPHA:500166
Autoinflammatory-Pancytopenia Syndrome
Failure to thrive, Cholestatic liver disease, Intestinal inflammation, Hepatosplenomegaly, Membra... OMIM:619858
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Ileus, Hyperinsulinemia, Hepatomegaly, Constipation, Myalgia, Splenomegaly, Ex... OMIM:613327
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Type I diab... ORPHA:171
Reticular Dysgenesis
Lack of T cell function, Sepsis, Impaired T cell function OMIM:267500
Flynn-Aird Syndrome
Cerebral cortical atrophy, Type II diabetes mellitus, Abnormality of the thyroid gland, Cachexia,... ORPHA:2047
Hall-Riggs Mental Retardation Syndrome
U-Shaped upper lip vermilion, Hypoplasia of the primary teeth, Osteoporosis, Microdontia of prima... OMIM:234250
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections, Osteoporosis OMIM:615468
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Recurrent tonsillitis, Decreased serum complement C3, Recurrent bacterial inf... OMIM:613779
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth, Pseudohypoparathyroidism, Osteoporosis OMIM:612463
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Neurotrophic Keratopathy
Anterior uveitis, Allodynia, Diabetes mellitus ORPHA:137596
Familial Expansile Osteolysis
Premature loss of teeth, Fragile teeth, Pathologic fracture, Thin bony cortex, Osteolysis OMIM:174810
Alg1-Cdg
Decreased liver function, Nephrotic syndrome, Cerebral atrophy, Abnormality of the kidney, Hypoal... ORPHA:79327
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Congenital hepatic fibrosis, Stage 5 chronic kidney dis... ORPHA:3156
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
X-Linked Intellectual Disability, Van Esch Type
Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptorchidism, Coronal cr... ORPHA:163976
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Atherosclerosis, Hypercholesterol... OMIM:603813
Dopamine Beta-Hydroxylase Deficiency
Hyperinsulinemia, Increased blood urea nitrogen, Elevated urinary dopamine, Orthostatic hypotensi... ORPHA:230
Mccune-Albright Syndrome
Abnormal endocrine physiology, Pancreatitis, Benign gastrointestinal tract tumors, Ovarian cyst, ... ORPHA:562
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Vomiting, Cholestasis, Bladder exstroph... OMIM:301068
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Diarrhea, Elevated circulating aspartate aminotransferase concentration, Vomiting, ... OMIM:608836
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... ORPHA:52901
Ghosal Hematodiaphyseal Dysplasia
Anemia, Abnormal cortical bone morphology, Craniofacial hyperostosis, Splenomegaly ORPHA:1802
Glycogen Storage Disease Ib
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... OMIM:232220
Encephalopathy, Progressive, With Or Without Lipodystrophy
Neuronal loss in central nervous system, Hepatomegaly, Cerebral atrophy, Hypertriglyceridemia, Tr... OMIM:615924
Senior-Boichis Syndrome
Polydipsia, Elevated circulating alkaline phosphatase concentration, Reduced number of intrahepat... ORPHA:84081
Shaheen Syndrome
Enamel hypoplasia, Hypohidrosis, Carious teeth OMIM:615328
Bleeding Disorder, Platelet-Type, 21
Eczema, Impaired platelet aggregation, Recurrent viral infections, Thrombocytopenia, Psoriasiform... OMIM:617443
Relapsing Fever
Myalgia, Chills, Elevated circulating C-reactive protein concentration, Jaundice, Abdominal pain,... ORPHA:91547
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density, Splenomegaly ORPHA:2204
Ane Syndrome
Multiple joint contractures, Premature loss of teeth, Decreased serum testosterone concentration,... ORPHA:157954
Cach Syndrome
Optic neuritis, Pancreatitis, Cerebellar vermis atrophy, Cerebral atrophy, Hepatosplenomegaly, Pr... ORPHA:135
Secondary Short Bowel Syndrome
Failure to thrive, Constipation, Enterocolitis, Steatorrhea, Low plasma citrulline, Diarrhea, Vom... ORPHA:95427
Complement Component 8 Deficiency, Type Ii
Meningitis, Decreased serum complement C8, Recurrent Neisserial infections OMIM:613789
Melorheostosis
Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in... ORPHA:2485
Immunodeficiency 36
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Recu... OMIM:616005
Glycerol Kinase Deficiency
Adrenal insufficiency, Small for gestational age, Episodic vomiting, Increased urinary glycerol, ... OMIM:307030
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:187950
Splenoportal Vascular Anomalies
Splenomegaly, Hyperammonemia, Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Anomalous splenopor... OMIM:271500
Hypothyroidism, Congenital, Nongoitrous, 8
Constipation, Secondary amenorrhea, Hypercholesterolemia, Inappropriately normal thyroid-stimulat... OMIM:301033
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Fibronectin Glomerulopathy
Nephrotic syndrome, Cerebral hemorrhage, Abnormal glomerular mesangium morphology, Hypoalbuminemi... ORPHA:84090
Autosomal Dominant Severe Congenital Neutropenia
Periodontitis, Recurrent infection of the gastrointestinal tract, Lymphopenia, Recurrent sinopulm... ORPHA:486
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Type IV atherosclerotic lesion, Increased LDL cholesterol concentration, Hy... OMIM:144300
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Failure to thrive, Myalgia, Elevated circulating C-... OMIM:616050
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Complement Factor D Deficiency
Complement deficiency, Recurrent bacterial infections OMIM:613912
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Fatigue,... OMIM:616000
Fanconi-Bickel Syndrome
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic failure, Glycosuri... ORPHA:2088
Classical-Like Ehlers-Danlos Syndrome Type 1
Myalgia, Arthralgia, Stroke, Arrhythmia, Fatigue, Adrenal hypoplasia, Mitral valve prolapse, Gast... ORPHA:230839
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Foam cells, Renal insufficiency, P... OMIM:245900
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Chronic kidney disease, Hepatomegaly, Nephronophthisis, Splenomegaly, Hepati... OMIM:615630
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, Neutropenia, Recurrent bacterial infections, B lymphocytopenia, Panhypogammagl... OMIM:601495
Complement Factor H Deficiency
Decreased serum complement factor H, Chronic kidney disease, Recurrent bacterial infections, Hema... OMIM:609814
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Hyperlipoproteinemia, Abnormal circulating lipid concentration, Cachexia, Type I diabetes mellitu... ORPHA:1979
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Increased bone mineral density OMIM:618406
Pseudoxanthoma Elasticum
Angina pectoris, Telangiectasia of the skin, Skin rash, Restrictive cardiomyopathy, Sudden cardia... ORPHA:758
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Small for gestational age, Left ventricular hypertrophy, Renal dysp... OMIM:616733
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Ovari... OMIM:246200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Severe B lymphocytopenia, B lymphocytopenia, Reduced red cell ... OMIM:102700
Von Willebrand Disease
Abnormal mitral valve morphology, Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Granulomatosis With Polyangiitis
Angina pectoris, Elevated circulating C-reactive protein concentration, Pancreatitis, Otitis medi... ORPHA:900
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Pyle Disease
Reduced bone mineral density, Delayed eruption of teeth, Limited elbow extension, Carious teeth, ... OMIM:265900
Narcolepsy 3
Narcolepsy OMIM:609039
Bacterial Toxic-Shock Syndrome
Diarrhea, Vomiting, Myocarditis, Elevated circulating creatinine concentration, Pneumonia, Septic... ORPHA:36234
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly, Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Alg6-Cdg
Failure to thrive, Jaundice, Abnormal enzyme/coenzyme activity, Decreased LDL cholesterol concent... ORPHA:79320
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Increased LDL ... OMIM:616829
Sting-Associated Vasculopathy, Infantile-Onset
Telangiectasia, Failure to thrive, Joint stiffness, Lymphopenia, Pustule, Skin rash, Increased ci... OMIM:615934
Trigeminal Neuralgia
Mandibular pain, Trigeminal neuralgia, Allodynia, Vascular tortuosity, Ocular pain ORPHA:221091
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Scorpion Envenomation
Stroke, Priapism, Diarrhea, Glycosuria, Elevated circulating aspartate aminotransferase concentra... ORPHA:466677
Fadd-Related Immunodeficiency
Decreased liver function, Cerebral atrophy, Pulmonary artery atresia, Ventricular septal defect, ... ORPHA:306550
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Cryptorchidism, Hypertriglyceridemia, Elevated hepatic transaminase, Hypogonadism, ... OMIM:615381
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Polyphagia, Insul... OMIM:617885
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Prader-Willi Syndrome
Stroke, Central adrenal insufficiency, External genital hypoplasia, Primary amenorrhea, Clitoral ... ORPHA:739
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Argininosuccinic acidur... OMIM:603471
Specific Granule Deficiency 2
Failure to thrive, Neutropenia, Osteopenia, Recurrent bacterial infections, Sepsis, Thrombocytope... OMIM:617475
Dominant Beta-Thalassemia
Diarrhea, Abnormality of iron homeostasis, Jaundice, Failure to thrive in infancy, Arthralgia, Hy... ORPHA:231226
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated cir... OMIM:619658
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Dentinogenesis imperfecta, Limited elbow extension, Carious teeth, Hyperostosis, Increased suscep... OMIM:604922
Marburg Hemorrhagic Fever
Pancreatitis, Maculopapular exanthema, Diarrhea, Vomiting, Elevated circulating creatinine concen... ORPHA:99826
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... OMIM:611521
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Laurence-Moon Syndrome
Type II diabetes mellitus, Hypoplasia of penis, Congenital hepatic fibrosis, Displacement of the ... ORPHA:2377
Estrogen Resistance Syndrome
Glucose intolerance, Hyperinsulinemia, Hypoplasia of the uterus, Episodic abdominal pain, Tall st... ORPHA:785
Sitosterolemia 2
Premature coronary artery atherosclerosis, Elevated circulating sitosterol concentration, Hyperch... OMIM:618666
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Decreased glomerular filtration rate, Hematuria, Hepatic c... ORPHA:730
Thrombotic Thrombocytopenic Purpura
Stroke, Abdominal pain, Diarrhea, Decreased serum creatinine, Arrhythmia, Hematuria, Myocardial i... ORPHA:54057
Pediatric-Onset Graves Disease
Keratitis, Polydipsia, Graves disease, Hepatomegaly, Increased circulating free T3, Diarrhea, Tre... ORPHA:525731
Mirage Syndrome
Hypergonadotropic hypogonadism, Sepsis, Hypoplastic spleen, Shawl scrotum, Microphallus, Adrenal ... OMIM:617053
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Eosinophilopenia
Autoimmunity OMIM:131430
Microscopic Polyangiitis
Pancreatitis, Diarrhea, Hematuria, Uveitis, Increased inflammatory response, Gastrointestinal hem... ORPHA:727
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Decreased response to growth hormone stimulation test, Increased bone miner... ORPHA:94089
Idiopathic Steroid-Resistant Nephrotic Syndrome
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Abd... ORPHA:567548
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Increased LDL cholesterol c... OMIM:616828
Athrombia, Essential
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time OMIM:209050
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia OMIM:124900
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... OMIM:609734
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulm... OMIM:308240
Wiskott-Aldrich Syndrome
Keratitis, Otitis media, Eczema, Sepsis, Sudden cardiac death, Hematochezia, Prolonged bleeding t... ORPHA:906
Bloom Syndrome
Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Otitis media, ... ORPHA:125
Lcat Deficiency
Premature coronary artery atherosclerosis, Decreased glomerular filtration rate, Decreased circul... ORPHA:650
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Nephrotic syndrome, Diffuse mesangial sclerosis, Micropenis, Hypoglycemia,... OMIM:617575
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Female infertility, Primary amenorrhea, High urinary gonadotropin level, Myocar... ORPHA:99413
Mosaic Monosomy X
Hyperinsulinemia, Female infertility, Primary amenorrhea, High urinary gonadotropin level, Myocar... ORPHA:99228
Monosomy X
Hyperinsulinemia, Female infertility, Primary amenorrhea, High urinary gonadotropin level, Myocar... ORPHA:99226
Turner Syndrome
Hyperinsulinemia, Female infertility, Primary amenorrhea, High urinary gonadotropin level, Myocar... ORPHA:881
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Increased circulating antibody level, Splenomegaly, Extramedullary hematopoies... OMIM:615285
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Hyperlipoproteinemia, Abdominal pain, Recurrent pancreatitis, Splenomegaly OMIM:118830
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Impotence, Elevated circulating C-reactive protein concentration, Constipation,... ORPHA:49041
Wolcott-Rallison Syndrome
Double outlet right ventricle, Exocrine pancreatic insufficiency, Decreased body weight, Hepatome... ORPHA:1667
Immunodeficiency 103, Susceptibility To Fungal Infections
Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Deep dermat... OMIM:212050
Kerion Celsi
Recurrent skin infections, Lymphadenopathy, Inflammatory abnormality of the skin, Recurrent cutan... ORPHA:499
Simple Cryoglobulinemia
Complement deficiency, Monoclonal elevation of circulating IgA, Myocardial infarction, Proteinuri... ORPHA:91139
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Polymicrogyria, Hypoplasia of the corpus callosum, Partial agenesis o... OMIM:604213
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Tachycardia, Fatigue, ... ORPHA:276608
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... ORPHA:436182
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Myalgia, Hepatomegaly, Hypoproteinemia, Splenomegaly, Abdominal pain, Eczema, ... OMIM:615895
Immunodeficiency 104
Splenomegaly, Otitis media, Eczema, Recurrent opportunistic infections, T lymphocytopenia, Chroni... OMIM:608971
Diarrhea 7, Protein-Losing Enteropathy Type
Failure to thrive, Hyperlipidemia, Diarrhea, Vomiting, Hypoalbuminemia, Hypercholesterolemia, Abd... OMIM:615863
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Recurrent bacterial infections, Pulmonary hemorrhage, Aortic regurgitation, Macrot... OMIM:603585
Immunodeficiency 84
B-cell lymphoma, Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal absces... OMIM:619437
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Postnatal growth retardation, Maturity-onset diabetes of the young, Recurrent... ORPHA:254531
Leukocyte Adhesion Deficiency
Otitis media, Sepsis, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow... ORPHA:2968
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Fatigue, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transam... OMIM:306000
Hermansky-Pudlak Syndrome 2
Periodontitis, Enlarged platelet dense granules, Chronic oral candidiasis, Neutropenia, Ocular al... OMIM:608233
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Dentinogenesis imperfecta, Decreased calvarial ossification, Bowing of limbs... OMIM:259440
Mulibrey Nanism
Dental malocclusion, Hypodontia, Thickened cortex of long bones, Recurrent lower respiratory trac... OMIM:253250
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Failure to thrive, Methioninuria, Pancreatitis, Stroke, Tall stature, Disproportionate tall statu... OMIM:236200
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Decreased glomerular fi... ORPHA:470
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Prostatitis, Enteroviral dermatomyositis syndrome, Pyoderma, Enteroviral hepatitis, Re... OMIM:307200
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Persistence o... OMIM:259710
Igg4-Related Kidney Disease
Abnormal ureter morphology, Elevated circulating C-reactive protein concentration, Pancreatitis, ... ORPHA:449395
47,Xyy Syndrome
Increased circulating gonadotropin level, Increased serum testosterone level, Micropenis, Hypospa... ORPHA:8
Bartter Syndrome, Type 2, Antenatal
Failure to thrive, Hyperprostaglandinuria, Small for gestational age, Renal juxtaglomerular cell ... OMIM:241200
Homozygous Familial Hypercholesterolemia
Angina pectoris, Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Sudden... ORPHA:391665
Transaldolase Deficiency
Decreased liver function, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Atrial septal ... OMIM:606003
Car T Cell Therapy-Associated Cytokine Release Syndrome
Myalgia, Hyperbilirubinemia, Skin rash, Tachycardia, Arrhythmia, Diarrhea, Hypotension, Vomiting,... ORPHA:542323
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Candida esophagitis, N... OMIM:619281
Benign Schwannoma
Pain, Abnormality of the adrenal glands, Allodynia, Abnormality of the liver ORPHA:252164
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Lymphadenopathy OMIM:616126
Systemic Capillary Leak Syndrome
Constitutional symptom, Myalgia, Pancreatitis, Abdominal pain, Abnormal renal tubule morphology, ... ORPHA:188
Pycnodysostosis
High palate, Abnormality of the dentition, Carious teeth, Hypoplasia of the maxilla, Increased bo... ORPHA:763
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... OMIM:619824
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Familial Cerebral Saccular Aneurysm
Cerebral berry aneurysm, Intracranial hemorrhage, Subarachnoid hemorrhage, Aortic dissection, Aor... ORPHA:231160
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Myalgia, Palpitations, Hypercholesterolemia ORPHA:488650
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Macroorchidism OMIM:300886
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia, External genital hypoplasia ORPHA:177910
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce... ORPHA:53035
Cockayne Syndrome
Hepatomegaly, Abnormal renal physiology, Proteinuria, Hyperuricemia, Hypertension, Nephrotic synd... ORPHA:191
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Otitis media, Decreased proportion of CD8-positive T ... OMIM:312863
Autoimmune Lymphoproliferative Syndrome, Type Iii
Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-/low B cells, ... OMIM:615559
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated alpha-fetoprotein... OMIM:619662
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Pancreatitis, Hyperammonemia, Choreoathetosis, Renal insufficiency, Cardiomyopathy ORPHA:27
Sea-Blue Histiocyte Disease
Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Elevated ... OMIM:269600
Narcolepsy 7
Narcolepsy OMIM:614250
Parathyroid Carcinoma
Polydipsia, Pancreatitis, Constipation, Elevated circulating parathyroid hormone level, Weight lo... ORPHA:143
Immunodeficiency 96
Decreased circulating IgA level, Decreased circulating IgG level, Defective T cell proliferation,... OMIM:619774
Immunodeficiency 46
Failure to thrive, Chronic oral candidiasis, Sepsis, Meningitis, Intermittent thrombocytopenia, D... OMIM:616740
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Fish-Eye Disease
Angina pectoris, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Atheroscler... ORPHA:79292
Beta-Thalassemia Major
Hepatomegaly, Diarrhea, Abnormality of iron homeostasis, Jaundice, Failure to thrive in infancy, ... ORPHA:231214
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Failure to thrive, Hepatomegaly, Diarrhea, Vomiting, Cholestasis, Hypot... OMIM:608104
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Lipid accumulation in hepatocytes, Hepatomegaly, Jaundice, 3-Methylglutaric aciduria, ... ORPHA:20
Melas
Constipation, Brain atrophy, Exercise intolerance, Diarrhea, Vomiting, Type I diabetes mellitus, ... ORPHA:550
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
External genital hypoplasia, Central adrenal insufficiency, Primary amenorrhea, Clitoral hypoplas... ORPHA:98754
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Impotence, Hepatomegaly, Cirrh... OMIM:606069
Coach Syndrome 1
Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Nephronophthisis, Cirrhosis, Unila... OMIM:216360