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 5.33×10-06
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 eye

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

X-ray

XRay Images Skull Lateral Orientation

7 Images

Eye Morphology

VIP of right fundus

14 Images

Eye Morphology

VIP of left fundus

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

X-ray

XRay Images Forepaw

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 uridine level, 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
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
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
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Premature coronary artery atherosclerosis, Congestive heart failure, Azoosper... OMIM:615703
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration ORPHA:2843
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Antinuclear antibody positivity... ORPHA:90283
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Coronary Artery Disease, Autosomal Dominant, 1
Premature coronary artery atherosclerosis, Chest pain, Obesity, Hypercholesterolemia, Hypertensio... OMIM:608320
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic ovar... ORPHA:79083
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Polycystic ovaries, Dysmenorrhea, Hepatomegaly, Atherosclerosis, Hypertrophic ... ORPHA:280365
Systemic Lupus Erythematosus 16
Anti-dsDNA antibody positivity, Perinuclear antineutrophil antibody positivity, Antinuclear antib... OMIM:614420
Lipodystrophy, Familial Partial, Type 5
Irregular menstruation, Decreased adiponectin level, Hepatic steatosis, Hypertriglyceridemia, Hep... OMIM:615238
Coronary Artery Disease, Autosomal Dominant 2
Premature coronary artery atherosclerosis, Increased LDL cholesterol concentration, Glucose intol... OMIM:610947
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Oligomenorrhea, Hypert... ORPHA:280356
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density, Abnormal dental morphology ORPHA:1653
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Atherosclerosis, Hypertrophic cardiomyopathy, Congestive heart failure, Myalg... ORPHA:2348
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Trichodentoosseous Syndrome
Widely spaced teeth, Abnormal hair morphology, Microdontia, Taurodontia, Increased bone mineral d... OMIM:190320
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition, Cortical sclerosis OMIM:125440
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Polyphagia, Hepatomegaly, Tachycardia, Neonatal hypoglycemia, Excessive insulin... ORPHA:324575
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:66628
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Episodic h... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Abnormal oral glucose tolerance, ... ORPHA:276580
Immune Thrombocytopenia
Platelet antibody positive OMIM:188030
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Coronary artery atherosclerosis, Polycys... ORPHA:79084
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:179494
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Failu... ORPHA:369
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotra... OMIM:619386
Leptin Deficiency Or Dysfunction
Recurrent upper respiratory tract infections, Recurrent pneumonia, Hypogonadism, Decreased testic... OMIM:614962
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Ecz... OMIM:613953
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Episodic hyperhidrosis, Recurrent hy... ORPHA:276556
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Diarrhea, Cholestasis, Hepatic steatosis, Polycystic ovaries, Dysmenorrhea, Increased body weight... ORPHA:264580
Lipe-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal la... ORPHA:435660
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... ORPHA:435651
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic ste... ORPHA:79085
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circu... OMIM:613501
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... ORPHA:71529
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... OMIM:613495
Immunodeficiency 61
Recurrent otitis media, Obesity, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased... OMIM:300310
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Immunodeficiency 66
Sepsis, Pustule, Defective T cell proliferation, Meningitis, Recurrent skin infections OMIM:618847
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Delayed puberty, I... ORPHA:2410
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Osteoporosis OMIM:233300
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Diarrhea, Acute hepatic fail... OMIM:278000
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Failure to thrive, Recurrent meningococcal disease, Disseminated... OMIM:614372
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Attention deficit hyperactivity disorder, Oligozoospermia, Macroo... ORPHA:3000
Hyperostosis Corticalis Generalisata
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyp... ORPHA:3416
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Decreased circulating IgG level, Recurrent viral infections, Verrucae, Eczematoi... OMIM:620632
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Glycogen Storage Disease Iii
Hepatic fibrosis, Ventricular hypertrophy, Elevated circulating hepatic transaminase concentratio... OMIM:232400
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Recurrent otitis media, Increased circulating IgE level, Abn... ORPHA:98813
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Recurrent otitis media, Neutropenia, Recurrent bacterial infections, Recurrent... OMIM:616022
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Molluscum contagiosum, Inc... OMIM:243700
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification, Diabetes mellitus OMIM:602475
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Persistent CMV viremia, Fluctuating splenomegaly, Increased circulating IgG level, Recurrent otit... OMIM:619220
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperglycemia, Coronary artery atheroscl... OMIM:608600
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatic steatosis, Hepatome... OMIM:203800
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Diarrhea, Recurrent hypoglycemia, Postnatal growth retardation, Polycystic ovaries, Dysmenorrhea,... ORPHA:79240
Hemochromatosis, Type 2B
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... OMIM:613313
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... OMIM:607271
Congenital Generalized Lipodystrophy
Insulin resistance, Clitoral hypertrophy, Precocious puberty in females, Failure to thrive, Overg... ORPHA:528
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Recurrent viral infections, Abnormal CD4:CD8 ratio, Pancytopenia... ORPHA:572
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Torus palatinus, Generalized osteos... ORPHA:2790
Dysbetalipoproteinemia
Premature coronary artery atherosclerosis, Decreased HDL cholesterol concentration, Aortic athero... ORPHA:412
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... OMIM:620449
Glanzmann Thrombasthenia 1
Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-IIIa, Subdural hemorr... OMIM:273800
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Recurrent sinusitis,... OMIM:613494
Flynn-Aird Syndrome
Alopecia, Carious teeth, Joint stiffness, Increased bone density with cystic changes, Alopecia of... OMIM:136300
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Citrullinemia Type Ii
Diarrhea, Abnormal eating behavior, Hepatic steatosis, Hepatomegaly, Restlessness, Hypoproteinemi... ORPHA:247585
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac... ORPHA:891
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Cerebral atrophy, Hyperinsulinemia, Limb dystonia, Hepatic steatosis, Tremor,... ORPHA:363400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec... ORPHA:169154
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Post-Traumatic Pituitary Deficiency
Osteopenia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased ... ORPHA:95619
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Cerebral cortical atrophy, Type I diabetes mellitus, Arterial stenosis, Cryptorchidi... ORPHA:1192
Preeclampsia
Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Elevated circulati... ORPHA:275555
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Recurrent infections, Defective T cell proliferation, Eczem... OMIM:614493
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media, Recurrent infections, Post-vaccination polio OMIM:616941
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Atherosclerosis, Labial pseudohypertrophy, Decreased HDL cho... OMIM:151660
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired ... OMIM:607594
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r... OMIM:619773
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobulin level, ... ORPHA:276
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Gastrointestinal hemorrhage, Vomiting, Diarrhea, Failure to th... ORPHA:79319
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo... OMIM:300853
Eales Disease
Epistaxis, Macular edema, Rubeosis iridis, Retinal thinning, Peripheral retinal neovascularizatio... ORPHA:40923
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Propionic Acidemia
Hyperglycinuria, Vomiting, Increased level of hippuric acid in urine, Cardiomyopathy, Eczematoid ... OMIM:606054
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation... OMIM:155100
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Vomiting, Elevated circulating thyroid-stimulating hormone concentration, Hypogl... OMIM:617872
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c... ORPHA:139507
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Hjv Or Hamp-Related Hemochromatosis
Impotence, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Incre... ORPHA:79230
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Decreased circulating free T4 concentration, Attention deficit hyperactiv... OMIM:301033
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Molluscum contagiosum, Increased circulating... OMIM:618982
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Camptodactyly of finger, Palmar hyperhidrosis, Nail dystrophy, Oral mucosal bliste... OMIM:226650
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Conjunctivitis, Impa... OMIM:240500
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Skin rash, Autoimmune hemolytic anemia, Abs... OMIM:619374
Glanzmann Thrombasthenia 2
Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induc... OMIM:619267
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Nephropathy, Gastrointestinal hemorrhage, Sepsis, Macular edema, Normocytic anemia, Ca... ORPHA:247691
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Cardiomyopathy, Renal insufficiency, Hyperammonemia, Splenomegaly, Stroke, Pan... ORPHA:79312
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP... OMIM:618462
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating deoxyuridine concentration, Diarrhea, Vomiting, Gastroparesis, Slender build... OMIM:603041
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceride... OMIM:145750
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Abnormality of the dentition, Absence of secondary sex chara... ORPHA:2235
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Hypoalphalipoproteinemia, Primary, 1
Myocardial infarction, Premature coronary artery atherosclerosis, Decreased HDL cholesterol conce... OMIM:604091
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis, ... OMIM:616126
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Stroke, Oligomenorrhe... OMIM:613877
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Verrucae, Abnormal... OMIM:193670
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... ORPHA:69663
Gnathodiaphyseal Dysplasia
Broad jaw, Osteopenia, Mandibular osteomyelitis, Thickened cortex of long bones, Recurrent fractures ORPHA:53697
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Craniosynostosis, Increased bone mineral density ORPHA:178377
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Type I... OMIM:618620
Pyle Disease
Mandibular prognathia, Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persis... OMIM:265900
Selective Igm Deficiency
Allergic rhinitis, Cellulitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-p... ORPHA:331235
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Immunodeficiency 25
Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n... OMIM:610163
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... ORPHA:3352
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V... OMIM:193235
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Short philtrum, Delayed eruption of teeth, Dentinogenesis imperfecta ORPHA:71267
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Decreased circulating IgG level, Recurrent viral infections, ... ORPHA:275
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Ren... ORPHA:54370
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Atheroscleros... ORPHA:1830
Tangier Disease
Atherosclerosis, Decreased HDL cholesterol concentration, Splenomegaly, Coronary artery atheroscl... OMIM:205400
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Dystrophic toenail, Abnormal cortical bone morphology, Dystrophic fingernail... ORPHA:970
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Abnormal cementum morphology, Mandibular osteomyelitis, Peri... ORPHA:83451
Pgm3-Cdg
Allergic rhinitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Increased circulating IgE ... ORPHA:443811
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormality of neutrophils, Pancytopenia, Splenomegaly, Abnormal m... ORPHA:2585
Morgagni-Stewart-Morel Syndrome
Acne, Cerebral cortical atrophy, Obesity, Abnormality of the thyroid gland, Action tremor, Hyperu... ORPHA:77296
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased circulating carnitine concentration, Arrhythmia, Hepatomegaly, Dysphagia, Polycystic ki... ORPHA:26791
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Anterior Cutaneous Nerve Entrapment Syndrome
Recurrent urinary tract infections, Decreased body weight, Nausea, Hyperhidrosis, Anorexia, Abdom... ORPHA:51890
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Hepatosplenomegaly, Hepatic steatosis, Chilblains, Weight... OMIM:619487
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Xanthelasma, Hepatic steatosis, Pol... ORPHA:79259
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Foam cells with lamellar inclusion bodies, Increased LDL... OMIM:607616
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Platelet Signal Processing Defect
Epistaxis, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced... OMIM:173590
Nephrotic Syndrome, Type 16
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria OMIM:617783
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Hypertension, Raynaud phenomenon, Thrombocytopenia ORPHA:401945
Seckel Syndrome 10
Insulin resistance, Ventricular hypertrophy, Elevated circulating luteinizing hormone level, Glyc... OMIM:617253
Aapoaiv Amyloidosis
Chronic kidney disease, Sinus bradycardia, Glomerular sclerosis, Left bundle branch block, Abnorm... ORPHA:439232
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... OMIM:133780
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Recurrent enteroviral infections, Lymphadenitis, Lymphopenia, Hepatos... ORPHA:331206
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Abnormal circulating selenium concentration, Elevated... ORPHA:171706
Intermediate Osteopetrosis
Abnormality of the dentition, Dental malocclusion, Cortical sclerosis, Osteomyelitis, Hepatosplen... ORPHA:210110
Sclerosteosis
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Werner Syndrome
Insulin resistance, Abnormal cerebral vascular morphology, Atherosclerosis, Hypogonadism, Congest... ORPHA:902
Immunodeficiency 11A
Pneumocystis jirovecii pneumonia, Agammaglobulinemia, Reduced antigen-specific T cell proliferati... OMIM:615206
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Dentinogenesis imperfecta, Abnormal cortical bone morphology, Limitation of ... ORPHA:166277
Lysosomal Acid Lipase Deficiency
Diarrhea, Adrenal calcification, Xanthelasma, Hepatosplenomegaly, Hypersplenism, Elevated circula... ORPHA:275761
Immunodeficiency 50
Eczematoid dermatitis, Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent re... OMIM:300988
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone ORPHA:564003
Immunodeficiency 18
Recurrent pneumonia, Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Meningitis, Recurrent low... OMIM:308230
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, ... ORPHA:75234
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Dilated cardiomyopathy, Failure to thrive in infancy, Hepatic steatosis, Pancrea... OMIM:618805
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Nail dystrophy, Oral mucosal blisters, Enamel hypoplasia, Hyperhidrosis ORPHA:79406
Polyembryoma
Increased serum serotonin, Irregular menstruation, Gonadal neoplasm, Neoplasm of head and neck, A... ORPHA:180229
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Proximal tubulopathy, Diarrhea, Vomiting, Fai... OMIM:602579
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Increased circulating antibody level, Monoc... OMIM:202700
Stxbp1-Related Encephalopathy
Generalized myoclonic seizure, Focal impaired awareness seizure, Seizure, Epileptic spasm, Infant... ORPHA:599373
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia, Obesity, Glucose intolerance, Hy... ORPHA:369873
Cach Syndrome
Renal hypoplasia, Vomiting, Secondary amenorrhea, Cerebellar atrophy, Cerebral atrophy, Gonadal d... ORPHA:135
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Anemia of inadequate production, Decreased fertil... ORPHA:91349
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta, Decreased circulating osteocalcin level, Thin bony cortex, Multiple pr... OMIM:619795
Neonatal Hemochromatosis
Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat... ORPHA:446
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Intestinal... ORPHA:85450
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Immunodeficiency 23
Allergic rhinitis, Molluscum contagiosum, Increased circulating IgE level, Lymphopenia, Abscess, ... OMIM:615816
Galactokinase Deficiency
Small for gestational age, Failure to thrive, Hypoglycemia, Hepatosplenomegaly, Abnormal circulat... ORPHA:79237
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618187
Acquired Generalized Lipodystrophy
Insulin resistance, Abnormal circulating lipid concentration, Cardiomyopathy, Insulin-resistant d... ORPHA:79086
Pudendal Neuralgia
Scrotal pain, Paroxysmal rectal pain, Neuralgia, Allodynia, Dyspareunia, Erectile dysfunction, Vu... ORPHA:60039
Osteopetrosis, Autosomal Dominant 1
Mandibular pain, Thickened cortex of long bones, Torus palatinus, Generalized osteosclerosis, Ost... OMIM:607634
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Diarrhea, Vomiting, Methylmalonic aciduria, Cardiomyopathy, Hypoglycemia, Failure to thrive, Stag... OMIM:251000
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co... ORPHA:567544
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Seizure, Joint hypermobility, Dysplastic corpus callosum, Abnormal cerebral white matter morpholo... ORPHA:500166
Diarrhea 13
Hypoalbuminemia, Vomiting, Elevated circulating hepatic transaminase concentration, Secretory dia... OMIM:620357
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Recurrent viral infections, Lymphopenia, Recurrent lower respiratory tra... OMIM:613179
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Cardiomyopathy, Elevated circulating aspa... OMIM:613752
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In... OMIM:619868
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Cellulitis, Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD... OMIM:606367
Extracranial Carotid Artery Aneurysm
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi... ORPHA:494424
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Primary Triglyceride Deposit Cardiomyovasculopathy
Precordial pain, Inflammatory abnormality of the skin, Coronary artery stenosis, Cardiomyopathy, ... ORPHA:565612
Acquired Aneurysmal Subarachnoid Hemorrhage
Impairment of activities of daily living, Vasospasm, Vomiting, Congestive heart failure, Hypopitu... ORPHA:90065
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:911
Histiocytosis, Familial Lipochrome
Recurrent infections, Histiocytosis, Increased circulating antibody level OMIM:235900
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Gastroesophageal reflux, Necr... OMIM:201475
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Recurrent mycobacterial infections, Abnormal circulating interleukin concentration, Re... ORPHA:319552
Functioning Gonadotropic Adenoma
Osteopenia, Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation... ORPHA:91348
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Van Buchem Disease
Increased bone mineral density, Thickened cortex of long bones, Cranial hyperostosis OMIM:239100
Coach Syndrome 2
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Hyper... OMIM:619111
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Recurrent lower respiratory tract infections... OMIM:301082
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Recurrent fungal infec... ORPHA:2688
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Failu... OMIM:300400
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Meningitis, Chronic otitis media, Decreased lymphocyte proliferation in re... ORPHA:83471
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Palpitations, Type II diabetes mellitus, Recurrent pancreatiti... OMIM:619290
Bleeding Disorder, Platelet-Type, 21
Recurrent viral infections, Eczematoid dermatitis, Psoriasiform dermatitis, Impaired ADP-induced ... OMIM:617443
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Unilateral renal agenesis, Hepatic failure, Hepatic fibrosis, N... OMIM:620454
Complement Component 7 Deficiency
Decreased circulating complement C7 concentration, Recurrent Neisserial infections, Recurrent men... OMIM:610102
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Hypo... OMIM:232200
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Osteogenesis Imperfecta, Type V
Osteopenia, Dentinogenesis imperfecta, Joint hypermobility, Limited pronation/supination of forea... OMIM:610967
Atherosclerosis Susceptibility
Myocardial infarction, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint... OMIM:608184
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Diarrhea, Hyperinsulinemia, Elevated circulating alkaline phosphatase concentration, Increased bo... ORPHA:263455
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Persistent CMV viremia, Failure to thrive, Recurrent urinary tract infections, Recurrent otitis m... OMIM:618495
Legionnaires Disease
Diarrhea, Hematuria, Arrhythmia, Arthralgia, Anorexia, Abdominal pain, Jaundice, Endocarditis, Ch... ORPHA:549
Senior-Boichis Syndrome
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... ORPHA:84081
Encephalopathy, Progressive, With Or Without Lipodystrophy
Cerebral atrophy, Tremor, Hyperactivity, Neuronal loss in central nervous system, Hypertriglyceri... OMIM:615924
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Nephrotic syndrome, Autoimmune thrombocytopenia, Vasculitis, Gas... OMIM:603909
Congenital Disorder Of Glycosylation, Type Ia
Diarrhea, Hepatic steatosis, Hepatomegaly, Premature ovarian insufficiency, Nephrotic syndrome, H... OMIM:212065
Complement Component 6 Deficiency
Reduced circulating CH50 activity, Recurrent meningococcal disease, Decreased circulating complem... OMIM:612446
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent... OMIM:245480
Leptin Receptor Deficiency
Recurrent upper respiratory tract infections, Decreased response to growth hormone stimulation te... OMIM:614963
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Mandibular prognathia, Elevated circulating parathyroid hormone level,... OMIM:122860
Immunodeficiency 12
Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent... OMIM:615468
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Hypertriglyceridemia, Foam cells, Proteinuria, Decreased lecithin cholestero... OMIM:245900
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Type I diabetes mellitus, Cerebellar atrophy, Parietal cortical atrophy, Hand tremor, Hypogonadis... ORPHA:412057
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the fundus, Ocular albinism, Leukopenia, Abnormal platelet aggregation, Throm... OMIM:614171
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Vomiting, Hypoglycemia, Hyperammonemia, Pancreatitis, Abdominal pain OMIM:620137
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hypoglycemia, Increa... OMIM:231100
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Impulsivity, Attention deficit hyperactivity disorder, M... ORPHA:8
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Recurrent viral infections, Failure to thrive, Abnormal c... OMIM:618048
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Immunodeficiency 27A
Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflammatory response, Salmo... OMIM:209950
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Hepatosplenomegaly, Hypocalcemia, Hepatic steatosis, Splenomegaly, Primary am... OMIM:612526
Al Amyloidosis
Xerostomia, Postural hypotension with compensatory tachycardia, Abnormal cardiac atrium morpholog... ORPHA:85443
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensit... OMIM:607624
Gaisböck Syndrome
Epigastric pain, Obesity, Hypertriglyceridemia, Peripheral arterial stenosis, Hypovolemia, Nephro... ORPHA:90041
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Dental malocclusion, Hyperostosis, Thickened cortex of... OMIM:144750
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, Hypermobility of interphalangeal joints, Delayed eruption of teeth, Mi... OMIM:613849
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Perrault Syndrome 1
Increased circulating gonadotropin level, Osteoporosis, High palate OMIM:233400
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Failure to thrive, Cholestasis, Decreased response to growth hormone stimu... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Failure to thrive, Cholestasis, Decreased response to growth hormone stimu... ORPHA:71526
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated... OMIM:601859
Bleeding Disorder, Platelet-Type, 11
Epistaxis, Abnormal platelet count, Impaired ristocetin-induced platelet aggregation, Impaired co... OMIM:614201
Immunodeficiency 62
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased proporti... OMIM:618459
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... OMIM:612783
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Tall stature, Hyperinsulinemia, Decreased fertility, Hepatic steatosis, Typ... OMIM:269700
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... OMIM:619855
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function OMIM:267500
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent upper respiratory tract infections, Decreased circulating IgG level,... OMIM:618944
Lipase Deficiency, Combined
Type II diabetes mellitus, Pancreatitis, Hypertriglyceridemia OMIM:246650
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Exercise intolerance, Elevated circulating hepatic transaminase concentration... OMIM:613327
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Cernunnos-Xlf Deficiency
Recurrent viral infections, Lymphopenia, T lymphocytopenia, Anemia, Thrombocytopenia, B lymphocyt... ORPHA:169079
Alg1-Cdg
Hypoalbuminemia, Cerebellar atrophy, Decreased liver function, Cardiomyopathy, Abnormal heart mor... ORPHA:79327
Mueller-Weiss Syndrome
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... ORPHA:566943
Relapsing Fever
Epistaxis, Acute kidney injury, Abnormality of the urinary system, Increased circulating lactate ... ORPHA:91547
Splenoportal Vascular Anomalies
Hepatic fibrosis, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, ... OMIM:271500
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Dopamine Beta-Hydroxylase Deficiency
Orthostatic syncope, Insulin resistance, Elevated urinary dopamine level, Diarrhea, Vomiting, Hyp... ORPHA:230
Flynn-Aird Syndrome
Cerebral cortical atrophy, Atherosclerosis, Primary adrenal insufficiency, Type II diabetes melli... ORPHA:2047
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Atherosclerosis OMIM:603813
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Ta... OMIM:608594
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep... OMIM:232220
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Congestive heart failure, Aggressive behavior, Hyperactivity, Ano... ORPHA:3077
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Microretrognathia, Tooth agenesis, Micrognathia, Hip contracture, Joint hypermobil... OMIM:618363
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Sparse lateral eyebrow, Hypohidrosis, Enamel hypoplasia, Thick vermilion border, R... ORPHA:363523
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferati... ORPHA:169160
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Central hypothyroidism, Failure to thrive, Atherosclerosis, Cholestasis, Prim... ORPHA:95427
Neurotrophic Keratopathy
Diabetes mellitus, Anterior uveitis, Allodynia ORPHA:137596
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Failure to thrive, Hepatos... OMIM:619858
Hall-Riggs Syndrome
Thick lower lip vermilion, Hypoplasia of the primary teeth, Enamel hypoplasia, Microdontia of pri... OMIM:234250
Mccune-Albright Syndrome
Increased circulating cortisol level, Increased circulating prolactin concentration, Pancytopenia... ORPHA:562
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level OMIM:605115
Familial Expansile Osteolysis
Pathologic fracture, Fragile teeth, Thin bony cortex, Osteolysis, Premature loss of teeth OMIM:174810
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia OMIM:618406
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci... OMIM:610475
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent pneumonia, Recurrent tonsillitis, Renal insufficiency, Membranoproliferative glomerulon... OMIM:613779
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Recurrent pneumonia, Inflammatory abnormality of th... ORPHA:277
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Hyperactive renin-angiotensin system, Hypoglycemia, Abnormal female external genitalia... ORPHA:90790
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Abnormal platelet count, Impaired arachidonic acid-induced platelet aggregation, Impai... OMIM:614009
Ghosal Hematodiaphyseal Dysplasia
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
X-Linked Intellectual Disability, Van Esch Type
Coronal craniosynostosis, Male hypogonadism, Retrognathia, Absence of secondary sex characteristi... ORPHA:163976
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Osteopenia, Recurrent viral infections, Periodontitis, Aplastic anemia, Leukemia, Lymp... ORPHA:486
Marburg Hemorrhagic Fever
Diarrhea, Arthralgia, Anorexia, Abdominal pain, Jaundice, Tachycardia, Shock, Elevated circulatin... ORPHA:99826
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease, Congenital hepatic fibr... ORPHA:3156
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Hepatic fibr... OMIM:617093
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Diarrhea, Lipid accumulation in hepatocytes, Arrhythmia, Elevated circulating alanine aminotransf... OMIM:608836
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Portal inflammation, Cerebral atrophy, Ventricular septal defect, Elev... OMIM:613759
Complement Component 8 Deficiency, Type Ii
Decreased circulating complement C8 concentration, Meningitis, Recurrent Neisserial infections OMIM:613789
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Diarrhea, Vomiting, Failure to thrive, Decreased liver function, Cholestasis, El... OMIM:608104
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid arthritis, Psoriasiform dermatitis, Hematuria, Flank pain, Weight loss, Retrograde eja... ORPHA:49041
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Pancytopenia, Acute lymphoblastic leukemia, Recurrent fungal infectio... OMIM:616873
Osteogenesis Imperfecta, Type Xix
Osteopenia, Dentinogenesis imperfecta, Joint hypermobility, Multiple prenatal fractures, Recurren... OMIM:301014
Pseudopseudohypoparathyroidism
Osteoporosis, Enamel hypoplasia, Delayed eruption of teeth, Pseudohypoparathyroidism OMIM:612463
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati... OMIM:608850
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Type IV atherosclerotic lesion, Hy... OMIM:144300
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Type I diabetes mellitus, Abnormal circulating lipid concentration, Atherosclerosis, Hyperlipopro... ORPHA:1979
Pseudoxanthoma Elasticum
Acne, Nephrocalcinosis, Restrictive cardiomyopathy, Gastrointestinal hemorrhage, Abnormal cerebra... ORPHA:758
Complement Factor D Deficiency
Recurrent bacterial infections, Partial functional complement factor D deficiency OMIM:613912
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Ventricu... OMIM:301068
Shaheen Syndrome
Carious teeth, Hypohidrosis, Enamel hypoplasia OMIM:615328
Complement Factor H Deficiency
Thickened glomerular basement membrane, Chronic kidney disease, Hematuria, Decreased circulating ... OMIM:609814
Fibronectin Glomerulopathy
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Hype... ORPHA:84090
Scorpion Envenomation
Diarrhea, Hyperglycemia, Premature ventricular contraction, Arrhythmia, Abdominal pain, Tachycard... ORPHA:466677
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Myalgia, Mitral valve prolapse, Stroke, Arrhythmia, Arthralgia, Fati... ORPHA:230839
Prader-Willi Syndrome
Premature adrenarche, Small scrotum, Xerostomia, Periodontitis, Central adrenal insufficiency, Cr... ORPHA:739
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Obesity... OMIM:615630
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Trigeminal Neuralgia
Vascular tortuosity, Trigeminal neuralgia, Ocular pain, Mandibular pain, Allodynia ORPHA:221091
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Vitreoretinochoroidopathy
Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio... OMIM:193220
Granulomatosis With Polyangiitis
Intestinal obstruction, Hematuria, Prostatitis, Arthralgia, Arrhythmia, Weight loss, Elevated cir... ORPHA:900
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Tremor, Pancreatic islet-cell ... ORPHA:276608
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Cortical sclerosis, Pathologic fracture, Osteopetrosis, Anemia, Increased bo... OMIM:620366
Pediatric-Onset Graves Disease
Diarrhea, Polyphagia, Hepatomegaly, Jaundice, Increased circulating T4 concentration, Graves dise... ORPHA:525731
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Recurrent otitis media, Decreased testi... OMIM:616222
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Diffuse alveolar hemorrhage, Secretory diarrhea, Failure to thrive, Increased ci... OMIM:616050
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Hepatic failure, Elevated circulating hepatic transam... OMIM:251880
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Elevated circulating creatinine concentration, Postnatal growth retard... OMIM:616733
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Impaired epinephri... OMIM:615888
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic tinea infection, Abnormal natural killer cell count, Increased circulating IgE level, Hyp... OMIM:212050
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Skin rash, Splenomegaly, Hypertriglyceridemia, Hepatomegaly OMIM:619175
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Mirage Syndrome
Aspiration pneumonia, Lymphopenia, Cryptorchidism, Hyperkalemia, Hypoplastic spleen, Hypospadias,... OMIM:617053
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypermethioninemia, Homocystinuria, Failure to thrive, Tall stature, Hepatic steatosis, Mitral va... OMIM:236200
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Failure to thrive, Rectal abscess, Panhypo... OMIM:601495
Analbuminemia
Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans... OMIM:616000
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Alg6-Cdg
Hypoalbuminemia, Failure to thrive, Puberty and gonadal disorders, Abnormality of the liver, Abno... ORPHA:79320
Combined Immunodeficiency, X-Linked
Pneumonia, Pneumocystis carinii pneumonia, Decreased circulating IgG level, Abnormal T cell count... OMIM:312863
Citrullinemia, Type Ii, Adult-Onset
Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Portal inflammation, Ballooning hepat... OMIM:603471
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... ORPHA:98793
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Stage 5 chronic kidn... OMIM:603278
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... OMIM:616005
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Diarrhea, Abnormal circulating lactate dehydrogenase concentration, Renal in... ORPHA:54057
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Hypotension, Elevated circulating hepatic transaminase concentration, ... ORPHA:20
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... ORPHA:98754
Bardet-Biedl Syndrome 16
Bronchiolitis, Renal agenesis, Recurrent otitis media, Obesity, Stage 5 chronic kidney disease, R... OMIM:615993
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Recurrent respiratory infections, Failure to thrive, Lymphopenia, Joint stiffness,... OMIM:615934
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... ORPHA:177904
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Aortic root aneurysm, Abnormal urinary electrolyte concentration, Mitral ... ORPHA:730
Donohue Syndrome
Precocious puberty, Hepatic fibrosis, Clitoral hypertrophy, Long penis, Postprandial hyperglycemi... OMIM:246200
Sitosterolemia 2
Hypercholesterolemia, Premature coronary artery atherosclerosis, Elevated circulating sitosterol ... OMIM:618666
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, C... OMIM:615381
Spinal Cord Injury
Urinary retention, Urinary bladder sphincter dysfunction, Paralytic ileus, Hypercalcemia, Allodynia ORPHA:90058
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr... ORPHA:177901
Congenital Pancreatic Cyst
Vomiting, Abdominal pain, Pancreatitis, Anorexia, Jaundice ORPHA:313906
Gm1-Gangliosidosis, Type Iii
Cherry red spot of the macula, Splenomegaly, Foam cells, Decreased beta-galactosidase activity, D... OMIM:230650
Ane Syndrome
Alopecia, Carious teeth, Adrenocorticotropin deficient adrenal insufficiency, Decreased response ... ORPHA:157954
Lcat Deficiency
Acute kidney injury, Premature coronary artery atherosclerosis, Atherosclerosis, Decreased glomer... ORPHA:650
Melorheostosis
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... ORPHA:2485
Bacterial Toxic-Shock Syndrome
Diarrhea, Glomerulonephritis, Abdominal pain, Tachycardia, Recurrent skin infections, Shock, Elev... ORPHA:36234
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Recurrent viral infections, Inflammatory abnormality of the skin, Increased circulating IgE level... OMIM:102700
Specific Granule Deficiency 2
Osteopenia, Recurrent pneumonia, Sepsis, Failure to thrive, Recurrent otitis media, Absent neutro... OMIM:617475
Fadd-Related Immunodeficiency
Hepatic fibrosis, Cerebral atrophy, Decreased liver function, Ventricular septal defect, Pulmonar... ORPHA:306550
Dominant Beta-Thalassemia
Diarrhea, Hypopituitarism, Hepatosplenomegaly, Hypersplenism, High-output congestive heart failur... ORPHA:231226
Pseudohypoparathyroidism Type 1B
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Delayed ... ORPHA:94089
Immunodeficiency 53
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent urinary tract infect... OMIM:617585
Reni Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Hypogl... OMIM:617575
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Fanconi-Bickel Syndrome
Nephropathy, Elevated circulating alkaline phosphatase concentration, Hypophosphatemia, Elevated ... ORPHA:2088
Lysinuric Protein Intolerance
Diarrhea, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Oral aver... ORPHA:470
Huntington Disease
Degeneration of the striatum, Decreased body mass index, Abnormal circulating cholesterol concent... ORPHA:399
Wiskott-Aldrich Syndrome
Nephropathy, Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia,... ORPHA:906
Microscopic Polyangiitis
Diarrhea, Hematuria, Arrhythmia, Arthralgia, Abdominal pain, Vasculitis, Gastrointestinal hemorrh... ORPHA:727
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... OMIM:308240
Laurence-Moon Syndrome
Obesity, Renal insufficiency, Cryptorchidism, Congenital hepatic fibrosis, Displacement of the ur... ORPHA:2377
Caroli Disease
Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating alkaline phosphatase ... ORPHA:53035
Bloom Syndrome
Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Severe toxoplasmosis, Abscess, Telan... ORPHA:125
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Athrombia, Essential
Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation OMIM:209050
Neutropenia, Chronic Familial
Periodontitis, Neutropenia, Increased circulating antibody level OMIM:162700
Eosinophilopenia
Autoimmunity OMIM:131430
Wolcott-Rallison Syndrome
Chronic kidney disease, Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Elevated c... ORPHA:1667
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Aminoaciduria, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Pr... OMIM:603585
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Maturity-onset diabetes of the young, Recurrent otitis media, Postnatal growt... ORPHA:254531
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... OMIM:619707
Estrogen Resistance Syndrome
Elevated tissue non-specific alkaline phosphatase, Absence of secondary sex characteristics, Tall... ORPHA:785
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Abdominal pain, Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia OMIM:118830
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Porphyria Cutanea Tarda
Portal inflammation, Hepatic steatosis, Decreased circulating hepcidin concentration, Cutaneous a... ORPHA:101330
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Decreased calvarial ossific... OMIM:259440
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... ORPHA:567548
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Septic arthritis, Recurrent enteroviral infections, Conjunctivi... OMIM:307200
Immunodeficiency 96
Decreased circulating IgG level, Eczematoid dermatitis, Recurrent otitis media, Decreased circula... OMIM:619774
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Small scrotum, Absence of pubertal development, Type II diabetes mellitus, ... ORPHA:398079
Systemic Capillary Leak Syndrome
Hypotension, Oliguria, Diarrhea, Myalgia, Renal insufficiency, Arrhythmia, Abnormal renal tubule ... ORPHA:188
Chudley-Mccullough Syndrome
Seizure, Polymicrogyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Partial a... OMIM:604213
Immunodeficiency 32B
Recurrent infections, Pneumonia, Neutrophilia, Failure to thrive, BCGitis, Impaired oxidative bur... OMIM:226990
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia... OMIM:617885
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Myalgia, Hypercholesterolemia, Palpitations ORPHA:488650
Cockayne Syndrome
Postnatal growth retardation, Absence of pubertal development, Cryptorchidism, Action tremor, Cac... ORPHA:191
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Galloway-Mowat Syndrome 6
Focal segmental glomerulosclerosis, Hypoalbuminemia, Cerebellar atrophy, Decreased response to gr... OMIM:618347
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Hematochezia, Elevated circulating hepatic transaminase concentration, Dilated ... OMIM:615895
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Diarrhea, Increased urinary glycerol, Cholestasis, Incr... ORPHA:247598
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Renal insufficiency, Hyperammonemia, Pancreatitis, Hepatomegaly, Choreoathetosis ORPHA:27
Immunodeficiency 46
Sepsis, Failure to thrive, Intermittent thrombocytopenia, Recurrent sinopulmonary infections, Men... OMIM:616740
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... ORPHA:436182
Fragile X Syndrome
Recurrent hand flapping, Macroorchidism, postpubertal, Hyperactivity, Self-biting, Congenital mac... OMIM:300624
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hypotension, Diarrh... ORPHA:542323
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Cholestasi... OMIM:619662
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... ORPHA:499
Immunodeficiency 104
Pneumonia, Chronic mucocutaneous candidiasis, Failure to thrive secondary to recurrent infections... OMIM:608971
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Diarrhea, Abdominal colic, Vomiting, Failure to thrive, Hyperlipidemia, Hypercho... OMIM:615863
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... ORPHA:329918
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, External genital hypoplasia, Polyphagia ORPHA:177910
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Reduced natural killer cell count, Periodontitis, Enlarged platelet dense gr... OMIM:608233
Pycnodysostosis
Carious teeth, Hepatosplenomegaly, Micrognathia, Delayed eruption of primary teeth, High palate, ... ORPHA:763
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Mandibular osteomyelitis, Carious teeth, Extramedullary hematopoiesis, Cra... OMIM:259710
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Absent frontal sinuses, Thickened cortex of l... OMIM:253250
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Recurrent respiratory infections, Panhypogammaglobulinemia, Ab... OMIM:615214
Igg4-Related Kidney Disease
Chronic kidney disease, Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Urethriti... ORPHA:449395
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Increased circulating lactate dehy... ORPHA:370348
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Recurrent pneumonia, Inflammation of the large int... OMIM:619281
Bardet-Biedl Syndrome
Chronic kidney disease, Inflammation of the large intestine, Hydrometrocolpos, Type II diabetes m... ORPHA:110
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure OMIM:300886
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Smith-Magenis Syndrome