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
decreased thigmotaxis Nos2em1(IMPC)Bay HOM   Early adult 4.91×10-05
abnormal eye anterior chamber depth Nos2em1(IMPC)Bay HOM Early adult 2.47×10-05

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

7 Images

Eye Morphology

VIP of right eye

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

6 Images

Eye Morphology

VIP of left eye

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

7 Images

X-ray

XRay Images Skull Lateral Orientation

6 Images

Eye Morphology

VIP of left fundus

15 Images

Eye Morphology

VIP of right fundus

14 Images

X-ray

XRay Images Forepaw

7 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, Elevated uridine in urine 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
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections, Abnor... OMIM:308220
Immunodeficiency 18
Recurrent respiratory infections, Recurrent otitis media, Defective T cell proliferation, Recurre... OMIM:615615
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Morbid Obesity And Spermatogenic Failure
Oligospermia, Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, I... OMIM:615703
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect
Methylmalonic aciduria OMIM:613646
Regional Odontodysplasia
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... ORPHA:83450
Lupus Erythematosus Tumidus
Anti-La/SS-B antibody positivity, Autoimmune antibody positivity, Antinuclear antibody positivity... ORPHA:90283
Trichodentoosseous Syndrome
Widely spaced teeth, Abnormal hair morphology, Microdontia, Taurodontia, Increased bone mineral d... OMIM:190320
Pparg-Related Familial Partial Lipodystrophy
Secondary amenorrhea, Insulin-resistant diabetes mellitus, Splenomegaly, Diabetes mellitus, Coron... ORPHA:79083
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Secondary amenorrhea, Ventricular arrhythmia, Abnormal atrioventricular conduction, Splenomegaly,... ORPHA:280365
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Severe varicella zoster infection, Defective T ce... OMIM:615897
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Failure to... OMIM:613501
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Infertility, Oligomenorrhea, Hepatic fibrosis, Insulin-resistant diabetes mellitus ... ORPHA:280356
Immunodeficiency 11
Recurrent respiratory infections, Decreased circulating antibody level, Pneumonia OMIM:615206
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus OMIM:614420
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Diabetes mellitus, Ectopic ossification OMIM:602475
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Gout, Hypercholest... OMIM:610947
Alstrom Syndrome
Dilated cardiomyopathy, Tubulointerstitial nephritis, Insulin-resistant diabetes mellitus, Hypert... OMIM:203800
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density, Premature ovarian insufficiency ORPHA:75325
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Secondary amenorrhea, Hepatomegaly, Dysmenorrhea, Insulin resistance... ORPHA:2348
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... OMIM:613500
Immunodeficiency 61
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Arthritis, Obesity, R... OMIM:300310
Hyperostosis Corticalis Generalisata
Mandibular prognathia, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone m... ORPHA:3416
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Leptin Deficiency Or Dysfunction
Polyphagia, Recurrent ear infections, Abnormal eating behavior, Hypogonadism, Micropenis, Recurre... OMIM:614962
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Fasting hypoglycemia, Neonatal hypoglycemia, Episodic hyperhidrosis, Polyphagia, Palpita... ORPHA:324575
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular ... ORPHA:2790
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Hepatic steatos... ORPHA:79084
Pycnodysostosis
Carious teeth, Micrognathia, Hypodontia, Delayed eruption of permanent teeth, Osteolytic defects ... OMIM:265800
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Portal fibrosis, Splenomegaly, Fatigue, Diarrhea, Abnormal erythrocyte enzy... ORPHA:370
Thrombocytopenic Purpura, Autoimmune
Platelet antibody positive OMIM:188030
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia, Portal fibrosis, Hyperlipidemia, Increas... ORPHA:369
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Flynn-Aird Syndrome
Carious teeth, Increased bone density with cystic changes, Alopecia of scalp, Osteoporosis, Alope... OMIM:136300
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemi... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemi... ORPHA:276580
Preeclampsia
Hypertension, Elevated diastolic blood pressure, Small for gestational age, Chronic kidney diseas... ORPHA:275555
Obesity Due To Congenital Leptin Deficiency
Orthostatic hypotension due to autonomic dysfunction, Polyphagia, Insulin-resistant diabetes mell... ORPHA:66628
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:435660
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Hypoglycemia, Portal fibrosis, Splenomegaly, Fatigue, Diarrhea, Abnormal er... ORPHA:264580
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Hyperlipidemia, Insulin resistance, Insulin-resistant diabetes mell... ORPHA:79085
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Hyperlipidemia, Insulin-resistant diabetes mellitus, Polycystic ova... ORPHA:435651
Amelogenesis Imperfecta
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... ORPHA:88661
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Episodic hyperhidrosis, Hypoketotic hypoglyce... ORPHA:276556
Obesity Due To Leptin Receptor Gene Deficiency
Orthostatic hypotension due to autonomic dysfunction, Polyphagia, Insulin-resistant diabetes mell... ORPHA:179494
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, B lymphocytopenia, Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Pn... OMIM:601495
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Hyperamylasemia, Adrenal insufficiency, Hypoglycemia, Lacticaciduria... OMIM:619386
Dentinogenesis Imperfecta
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G... ORPHA:49042
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Lichtenstein Syndrome
Carious teeth, Hirsutism, Neutropenia, Decreased circulating IgA level, Increased susceptibility ... OMIM:246550
Retinal Venous Beading
Neutropenia, Retinal infarction, Nephritis, Retinal neovascularization, Vitreous hemorrhage, Sacc... OMIM:180080
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Broad jaw, Increased bone mineral density ORPHA:178377
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomyopathy, Myalgia, Hepati... OMIM:610717
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Nephrotic Syndrome, Type 16
Hematuria, Proteinuria, Nephrotic syndrome OMIM:617783
Glycogen Storage Disease Vi
Hepatomegaly, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Increased hepatic glyco... OMIM:232700
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Secondary growth hormone deficiency, Absence of secondary sex characteristics, Incr... ORPHA:2410
Isolated Osteopoikilosis
Cleft palate, Sclerosis of foot bone, Sclerotic foci in hand bones, Abnormal bone ossification, T... ORPHA:166119
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity, Hypertrigly... ORPHA:71529
Ovarian Dysgenesis 1
Osteoporosis, Increased circulating gonadotropin level OMIM:233300
Immunodeficiency 66
Sepsis, Defective T cell proliferation, Pustule, Meningitis, Recurrent skin infections OMIM:618847
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Bone-marrow foam cells, Splenomegaly, Hepatosplenomegaly, Hypersplenism, S... OMIM:278000
Mannose-Binding Lectin Deficiency
Recurrent herpes, Failure to thrive, Disseminated cryptosporidium infection, Recurrent skin infec... OMIM:614372
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Primary Lipodystrophy
Hypertension, Type II diabetes mellitus, Hyperlipidemia, Insulin resistance, Type IV atherosclero... ORPHA:90970
Hemochromatosis, Type 2B
Increased serum iron, Secondary amenorrhea, Hepatomegaly, Hepatic fibrosis, Elevated transferrin ... OMIM:613313
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Hepatomegaly, Precocious puberty in females, Oligomenorrhea, Amenorr... ORPHA:528
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Neutropenia, Lack of T cell function, Recurrent herpes, Neutropenia in presence of ant... ORPHA:572
Post-Traumatic Pituitary Deficiency
Abnormal prolactin level, Abnormality of secondary sexual hair, Hypogonadotropic hypogonadism, Pi... ORPHA:95619
Lipodystrophy, Familial Partial, Type 3
Hypertension, Decreased HDL cholesterol concentration, Maternal diabetes, Oligomenorrhea, Insulin... OMIM:604367
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Fasting hypoglycemia, Splenomegaly, Fatigue, Postnatal growth retardation, Diarrhea, Hepatic fibr... ORPHA:79240
Lipodystrophy, Familial Partial, Type 1
Hypertension, Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia, Hypertriglyceride... OMIM:608600
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Neutropenia, Chronic sinusitis, Recurrent oti... OMIM:613502
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Neutropenia, Failure to thrive, Recurrent otitis media, Recurrent... OMIM:616022
Tricho-Dento-Osseous Syndrome
Widely spaced teeth, Microdontia, Enamel hypomineralization, Agenesis of incisor, Taurodontia, In... ORPHA:3352
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Recurrent bronchitis, Chronic ora... OMIM:613953
Sclerosteosis
Abnormal cortical bone morphology, Craniofacial hyperostosis, Increased bone mineral density ORPHA:3152
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Bronchiectasis, Neutropenia in presence of anti-neutropil antibodies, R... OMIM:619220
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones ORPHA:564003
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Reduced is... OMIM:613493
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Osteopetrosis, Thickened cortex of long bones, Calvarial osteoscleros... OMIM:607634
Intermediate Osteopetrosis
Abnormality of bone mineral density, Generalized osteosclerosis, Osteosclerosis of the base of th... ORPHA:210110
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... OMIM:607594
Lipodystrophy, Familial Partial, Type 4
Hypertension, Oligomenorrhea, Hepatic steatosis, Diabetes mellitus, Hypertriglyceridemia OMIM:613877
Dysbetalipoproteinemia
Hepatomegaly, Decreased HDL cholesterol concentration, Accelerated atherosclerosis, Type IV ather... ORPHA:412
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Diffuse cerebral calcification, Increased bone mineral ... OMIM:259660
Glycogen Storage Disease Iii
Hepatomegaly, Hypoglycemia, Hepatic fibrosis, Hyperlipidemia, Elevated circulating creatine kinas... OMIM:232400
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Osteoporosis, Secondary growth hormone deficiency, Absence of seco... ORPHA:2235
Familial Male-Limited Precocious Puberty
Oligospermia, Macroorchidism, Long penis, Acne, Male infertility, Precocious puberty ORPHA:3000
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Eczema, Defective T cell proliferation, Recurrent infections OMIM:614493
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Vomiting, Failure to thrive, Hyperinsulinemic hypoglycemia, Decre... ORPHA:79319
Caspase 8 Deficiency
Eczema, Pneumonia, Recurrent herpes, Decreased circulating IgA level, Recurrent sinopulmonary inf... OMIM:607271
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Agammaglobulinemia 8, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media, Recurrent infections OMIM:616941
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Recurrent infections, Decreased proportion of CD3-positive T cells, Hepatosplenomega... ORPHA:169154
Lipodystrophy, Familial Partial, Type 2
Hypertension, Hepatomegaly, Decreased HDL cholesterol concentration, Labial pseudohypertrophy, In... OMIM:151660
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Sepsis, Recurrent opportunistic infections, Recurrent herpes, Severe recurrent varicella, Decreas... ORPHA:276
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... OMIM:619130
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cerebral artery atherosclerosis, Hypertension, Nephrotic syndrome, Abnormal mitral valve morpholo... ORPHA:1192
Hemochromatosis Type 2
Dilated cardiomyopathy, Abnormality of endocrine pancreas physiology, Abnormality of iron homeost... ORPHA:79230
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Decreased CD69 up... OMIM:300853
Craniodiaphyseal Dysplasia, Autosomal Dominant
Elevated circulating parathyroid hormone level, Mandibular prognathia, Diaphyseal sclerosis, Cran... OMIM:122860
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Macroscopic hematuria, Hydronephrosis, Decreased specific pneumoc... OMIM:613496
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Hypertension, Myocardial infarction, Chest pain OMIM:608320
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Hepatomegaly, Insulin resistance, Caudate atrophy, Neuronal loss in central nervous... ORPHA:363400
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... OMIM:619374
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Citrullinemia Type Ii
Hyperlipidemia, Decreased body mass index, Enuresis, Diarrhea, Decreased HDL cholesterol concentr... ORPHA:247585
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia, Decreased circulating IgA level, Impaired memory B c... OMIM:606843
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density, Microcephaly, Splenomegaly ORPHA:2204
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:608106
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Orthostatic hypotension, Glucose intolerance, Impaired glucose tolerance, Pan... OMIM:606721
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Diabetes insipidus, Insulin resistance, Failure to thriv... ORPHA:181393
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... ORPHA:275
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Bronchiectasis, Increased circulating IgA... OMIM:618534
Arthrogryposis, distal, with hypopituitarism, mental retardation,and facial anomalies
Distal arthrogryposis, Micrognathia, Arthrogryposis multiplex congenita, Camptodactyly of finger,... OMIM:208080
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... OMIM:613494
Low Phospholipid-Associated Cholelithiasis
Hypertension, Cholangitis, Hepatocellular carcinoma, Elevated hepatic transaminase, Biliary tract... ORPHA:69663
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Lymphangiectasis, Hepatic fibrosis, Vomiting, Failure to thrive, Hyperinsulinemic h... OMIM:602579
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Chronic sinusitis, Recu... OMIM:612692
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Increased B cell count, Increased proportion of memory T cells, Bron... OMIM:618982
Selective Igm Deficiency
Sepsis, Thyroid carcinoma, Non-infectious meningitis, Severe varicella zoster infection, Recurren... ORPHA:331235
Immunodeficiency With Hyper-Igm, Type 2
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Decreased circ... OMIM:605258
Mueller-Weiss Syndrome
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... ORPHA:566943
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transami... OMIM:306000
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Neutrop... OMIM:209920
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Hypertension, Telangiectasia, Sepsis, Normocytic anemia, Pneumonia, Normochromic anemia, Glomerul... ORPHA:247691
Gnathodiaphyseal Dysplasia
Thickened cortex of long bones, Broad jaw, Osteopenia, Mandibular osteomyelitis, Recurrent fractures ORPHA:53697
Hyperlipoproteinemia, Type Iv
Increased VLDL cholesterol concentration, Glucose intolerance, Precocious atherosclerosis, Hypert... OMIM:144600
Hypertriglyceridemia 1
Increased VLDL cholesterol concentration, Glucose intolerance, Precocious atherosclerosis, Hypert... OMIM:145750
Florid Cemento-Osseous Dysplasia
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... ORPHA:83451
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Recurrent bacterial infections, Eczema, Recurrent fungal infections, Recurrent... OMIM:243700
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... OMIM:310350
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth ORPHA:71267
Masp2 Deficiency
Systemic lupus erythematosus OMIM:613791
Glanzmann Thrombasthenia 2
Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Epistaxis, Impaired ... OMIM:619267
Melorheostosis
Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone mineral density, J... ORPHA:2485
Immunodeficiency 25
Erythroderma, Recurrent herpes, Complete or near-complete absence of specific antibody response t... OMIM:610163
Whim Syndrome 1
Recurrent bacterial infections, Neutropenia, Abnormal morphology of female internal genitalia, Br... OMIM:193670
Specific Granule Deficiency 1
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... OMIM:245480
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Epistaxis, Impaired collagen-induced platelet ... OMIM:173590
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Sepsis, Decreased specific pneumococcal antibody level, Recurrent herpes, Recurrent ... ORPHA:183675
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Bronchiectasis, Recurrent bronchitis, Decreased circulating IgA l... OMIM:240500
Functioning Gonadotropic Adenoma
Abnormal prolactin level, Abnormality of secondary sexual hair, Increased serum testosterone leve... ORPHA:91348
Primary Membranoproliferative Glomerulonephritis
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Myocardial infarction, Renal in... ORPHA:54370
Hereditary Sensory And Autonomic Neuropathy Type 2
Dystrophic fingernails, Foot acroosteolysis, Dystrophic toenail, Abnormal cortical bone morpholog... ORPHA:970
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... ORPHA:2585
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen con... ORPHA:79259
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Abnormal platelet aggregation, Thrombocytopenia, Raynaud phenomenon ORPHA:401945
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Dentinogenesis imperfecta, Abnormal cortical bone morphology, Limitation of joint mobility, Patho... ORPHA:166277
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Pgm3-Cdg
Sepsis, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis... ORPHA:443811
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia OMIM:618406
Hypoalphalipoproteinemia, Primary, 1
Myocardial infarction, Premature coronary artery atherosclerosis, Decreased HDL cholesterol conce... OMIM:604091
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased circulating antibody level, Recurrent upper and lower respirator... ORPHA:331206
Morgagni-Stewart-Morel Syndrome
Hypertension, Abnormality of the endocrine system, Acne, Hyperuricemia, Hypercholesterolemia, Bra... ORPHA:77296
Disseminated Sclerosis With Narcolepsy
Narcolepsy OMIM:223300
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatomegaly, Failure to thrive in infancy, Pancreatitis, Chronic diarrhe... OMIM:618805
Schimke Immuno-Osseous Dysplasia
Hypertension, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hyperlipidem... ORPHA:1830
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Proteinuria, Chronic Benign
Albuminuria, Proteinuria OMIM:618884
Non-Functioning Pituitary Adenoma
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... ORPHA:91349
Propionic Acidemia
Hepatomegaly, Eczema, Propionyl-CoA carboxylase deficiency, Hypoglycemia, Vomiting, Failure to th... OMIM:606054
Osteogenesis Imperfecta, Type V
Limited pronation/supination of forearm, Osteopenia, Joint hypermobility, Recurrent fractures, De... OMIM:610967
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Nail dystrophy, Enamel hypoplasia, Hyperhidrosis, Oral mucosal blisters ORPHA:79406
Phenylketonuria
Aminoaciduria ORPHA:716
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Tubulointerstit... ORPHA:85450
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Cirrhosis, Arteriosclerosis, Hypertriglyceridem... ORPHA:75234
Neonatal Hemochromatosis
Increased serum iron, Hypoglycemia, Congenital hepatic fibrosis, Abnormal localization of kidney,... ORPHA:446
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hyperlipidemia, Cardiac conduction abnormality, Diabetes m... ORPHA:439232
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... OMIM:202700
Temple Syndrome
Small for gestational age, Maturity-onset diabetes of the young, Recurrent otitis media, Truncal ... OMIM:616222
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Multiple Acyl-Coa Dehydrogenase Deficiency
Ethylmalonic aciduria, Hypoglycemia, Lacticaciduria, Glutaric aciduria, Elevated circulating acyl... ORPHA:26791
Polyembryoma
Macroorchidism, Increased serum testosterone level, Gonadal neoplasm, Increased serum serotonin, ... ORPHA:180229
Acquired Generalized Lipodystrophy
Hypertension, Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal cir... ORPHA:79086
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension, Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Elevated c... ORPHA:567544
Immunodeficiency 50
Eczema, Neutropenia, Decreased circulating antibody level, Recurrent urinary tract infections, Ly... OMIM:300988
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Recurrent sinopulmonary infections, Recurrent fungal infections, Craniosyn... OMIM:147060
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Generalized osteosclerosis, Osteopetrosis, Bone ... OMIM:166600
Aicardi-Goutieres Syndrome 9
Increased blood pressure, Hepatosplenomegaly, Micropenis, Acute pancreatitis, Cerebral atrophy, P... OMIM:619487
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, Severe varicella zoster infection, Lymphadenopathy, Hepatosplenomegaly, Type I diabetes m... OMIM:606367
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hypoglycemia, Hepatocellular necrosis, Vomiting, Failure... OMIM:251880
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... OMIM:614868
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Fatal liver failure in infancy, Bone-marrow foam cells, Hepatos... ORPHA:275761
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Accelerated ath... OMIM:618620
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Decreased circulat... ORPHA:169079
Alopecia Areata 1
Autoimmunity OMIM:104000
Renal Failure, Progressive, With Hypertension
Hypertension, Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney di... OMIM:161900
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal neovas... OMIM:133780
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent opportunistic infections, Stomatitis, Recurrent upper and lower respiratory tract infec... ORPHA:911
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Polyphagia, Palpitations, Hyperinsulinemi... ORPHA:97279
Hypothyroidism, Congenital, Nongoitrous, 8
Secondary amenorrhea, Central hypothyroidism, Decreased circulating free T4 level, Inappropriatel... OMIM:301033
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Abnormal cir... ORPHA:171706
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating IgG level, Downturned corners of mouth, Enamel hypoplasia, Dec... ORPHA:2643
Extracranial Carotid Artery Aneurysm
Hypertension, Total anomalous pulmonary venous return, Pain, Cerebral ischemia, Arterial fibromus... ORPHA:494424
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Palpitations, Recurrent pancreatiti... OMIM:619290
Galactokinase Deficiency
Hepatomegaly, Hypergalactosemia, Hypoglycemia, Small for gestational age, Increased level of gala... ORPHA:79237
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... ORPHA:70592
Obesity Due To Sim1 Deficiency
Polyphagia, Glucose intolerance, Postural hypotension with compensatory tachycardia, Obesity, Hyp... ORPHA:369873
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Necrotizing enterocolitis, Hepatomegaly, Hepatocellular necrosis, Re... OMIM:201475
Coach Syndrome 2
Hypertension, Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Elevated circulatin... OMIM:619111
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Recurrent infections, Histiocytosis OMIM:235900
Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Hepatomegaly, Renal artery atherosclerosis, Hyperlipidemia,... ORPHA:565612
Anterior Cutaneous Nerve Entrapment Syndrome
Nausea, Back pain, Recurrent urinary tract infections, Allodynia, Hyperhidrosis, Decreased body w... ORPHA:51890
Seckel Syndrome 10
Hypertension, Abdominal aortic aneurysm, Elevated circulating follicle stimulating hormone level,... OMIM:617253
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Fasting hypoglycemia, Insulin-resistant diabetes mellitus, En... ORPHA:2298
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Bronchiectasis... OMIM:608184
Temple Syndrome
Type II diabetes mellitus, Polyphagia, Decreased response to growth hormone stimulation test, Rec... ORPHA:254516
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Osteoporosis, Elevated circulating follicle stimu... OMIM:618187
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Neutropenia, Stomatitis, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Hemolytic anemia,... OMIM:308230
Complement Component 7 Deficiency
Decreased serum complement C7, Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Oligodontia
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... ORPHA:99798
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Platelet aniso... OMIM:619271
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, B... OMIM:607616
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Recurrent otitis media, Splenomegaly, Recurrent urinary tract infections, Incr... OMIM:618495
Atherosclerosis Susceptibility
Myocardial infarction, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Immunodeficiency 23
Eczema, Severe varicella zoster infection, Neutropenia, Recurrent staphylococcal infections, Recu... OMIM:615816
Thymic Aplasia
Sinusitis, Sepsis, Lymphadenopathy, Chronic otitis media, Recurrent infections, Recurrent candida... ORPHA:83471
Pseudohypoparathyroidism Type 1B
Elevated circulating parathyroid hormone level, Increased bone density with cystic changes, Diaph... ORPHA:94089
Werner Syndrome
Hypertension, Secondary amenorrhea, Thyroid carcinoma, Type II diabetes mellitus, Ovarian neoplas... ORPHA:902
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Amelogenesis imperfecta, Increased overbite, Enamel hypoplasia OMIM:617297
Bardet-Biedl Syndrome 16
Renal agenesis, Retinal degeneration, Renal dysplasia, Recurrent otitis media, Renal cyst, Rod-co... OMIM:615993
Dentin Dysplasia, Type I
Microdontia, Periapical bone loss, Pulp obliteration, Abnormality of dental morphology, Taurodont... OMIM:125400
Cach Syndrome
Secondary amenorrhea, Dysphagia, Cerebellar atrophy, Renal hypoplasia, Nonketotic hyperglycinemia... ORPHA:135
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... ORPHA:2688
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosp... OMIM:612526
Acne Inversa, Familial, 3
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613737
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent infections OMIM:146830
Hall-Riggs Mental Retardation Syndrome
Thick lower lip vermilion, Hypoplasia of the primary teeth, Microdontia of primary teeth, U-Shape... OMIM:234250
Complement Component 6 Deficiency
Reduced hemolytic complement activity, Recurrent meningococcal disease, Decreased serum complemen... OMIM:612446
Perrault Syndrome 1
Osteoporosis, High palate, Increased circulating gonadotropin level OMIM:233400
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Cranial hyperostosis, Thrombocytopenia, Mandibular prognathia, Osteopetrosis, Anem... OMIM:259710
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Sparse lateral eyebrow, Enamel hypoplasia, Recurrent respiratory infections, Hypoh... ORPHA:363523
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent bacterial infections, Recurrent opportunistic infections, Pneumonia, Impaire... OMIM:613179
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hypoglycemia, Failure to thrive, Cirrhosis, Cholestasis, Hepati... OMIM:617156
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Decreased circulating total IgA, Pneumonia, Recurrent herpes, Failure to thrive sec... ORPHA:169160
Chondrodysplasia, Blomstrand Type
Micrognathia, Generalized osteosclerosis, Malar flattening, Advanced ossification of carpal bones... OMIM:215045
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pneumonia, Decrea... OMIM:300400
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Postural tremor, Dysphagia, Infertility, Type II diabetes mellitus, Oligomenorrhea, Cerebellar at... ORPHA:412057
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Inflammatory abnormality of the skin, Recurrent opportunistic infections, Lack of T ce... ORPHA:277
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatomegaly, Hepatic fibrosis, Vomiting, Elevated hepatic transaminase, Hypocho... OMIM:212065
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Refractory anemia, Hyperostosis cranialis interna, Myelofibrosis, Bone marrow hypocel... OMIM:231095
Hyperinsulinism Due To Hnf4A Deficiency
Fasting hypoglycemia, Increased hepatic glycogen content, Neonatal hypoglycemia, Fatigue, Elevate... ORPHA:263455
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Truncal obesity, Neonatal hypoglyce... ORPHA:293964
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocy... OMIM:607624
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Microcephalic Primordial Dwarfism, Toriello Type
Micrognathia, Neutropenia, Decreased circulating IgG level, Enamel hypoplasia, Decreased circulat... OMIM:251190
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Intracranial hemorrhage, Epistaxis, Decreased platelet glycopr... OMIM:173470
Lethal Recessive Chondrodysplasia
Macroglossia, Generalized osteosclerosis, Micrognathia ORPHA:1423
Glycogen Storage Disease Ia
Hypertension, Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Hep... OMIM:232200
Leptin Receptor Deficiency
Polyphagia, Pituitary hypothyroidism, Abnormal eating behavior, Recurrent upper respiratory tract... OMIM:614963
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Increased circulating interleukin 6, Decreased proportion of class-switched me... OMIM:618944
Al Amyloidosis
Gastroparesis, Gastrointestinal hemorrhage, Fatigue, Autonomic erectile dysfunction, Elevated cir... ORPHA:85443
Obesity Due To Prohormone Convertase I Deficiency
Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased response to growth hormon... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Central adrenal insufficiency, Polyphagia, Failure to thrive, Decreased response to growth hormon... ORPHA:71526
Shaheen Syndrome
Microcephaly, Enamel hypoplasia, Carious teeth, Hypohidrosis OMIM:615328
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Pneumonia, Weight loss, Salmonella osteomyelitis, Anemia, Increased... OMIM:209950
Hemochromatosis, Neonatal
Increased serum iron, Abnormality of iron homeostasis, Hypoglycemia, Hepatocellular necrosis, Hep... OMIM:231100
Pycnodysostosis
Carious teeth, Decreased serum insulin-like growth factor 1, Obtuse angle of mandible, Hepatosple... ORPHA:763
Autoimmune Lymphoproliferative Syndrome, Type Iia
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:603909
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Decreased lymph... OMIM:601859
Tangier Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly, Myocardial infarction, Left ... OMIM:205400
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated h... OMIM:614480
X-Linked Intellectual Disability, Van Esch Type
Type II diabetes mellitus, Absence of secondary sex characteristics, Increased circulating gonado... ORPHA:163976
Schnitzler Syndrome
Leukocytosis, Anemia, Arthritis, Splenomegaly, Increased circulating IgM level, Increased bone mi... ORPHA:37748
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Dysphagia, Prolonged QT interval, Atrial fibrillation, Insulin resistance, Elevated... OMIM:613327
Glanzmann Thrombasthenia 1
Intracranial hemorrhage, Impaired clot retraction, Epistaxis, Decreased platelet glycoprotein IIb... OMIM:273800
Legionnaires Disease
Myocarditis, Hyponatremia, Pericarditis, Infectious encephalitis, Endocarditis, Chest pain, Hemat... ORPHA:549
Lipase Deficiency, Combined
Pancreatitis, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Lipodystrophy, Congenital Generalized, Type 2
Hypertrophic cardiomyopathy, Hepatomegaly, Polyphagia, Tall stature, Insulin-resistant diabetes m... OMIM:269700
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Severe toxoplasmosis, Coccidioidomycosis, Pneumonia, BCGosis, Lymphadenitis, Salmonella osteomyel... ORPHA:319552
Ane Syndrome
Carious teeth, Hypodontia, Premature loss of teeth, Decreased serum insulin-like growth factor 1,... ORPHA:157954
Pseudopseudohypoparathyroidism
Osteoporosis, Enamel hypoplasia, Pseudohypoparathyroidism, Delayed eruption of teeth OMIM:612463
Lymphoproliferative Syndrome, X-Linked, 1
Infectious encephalitis, Neutropenia, Reduced natural killer cell activity, Decreased circulating... OMIM:308240
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, Vomiting, Nausea, Hyperglycemia, ST segment depressio... ORPHA:90065
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Uve... ORPHA:171
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Methylmalonic acidemia, Tubulointerstitial nephritis, Vomiting, Methylmalonic acidu... OMIM:251000
Dopamine Beta-Hydroxylase Deficiency
Syncope, Hypoglycemia, Vomiting, Insulin resistance, Orthostatic hypotension, Orthostatic syncope... ORPHA:230
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Seizure, Joint hypermobility, Mild malformation of cortical developme... ORPHA:500166
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Elevated... OMIM:613759
Focal Segmental Glomerulosclerosis 1
Hypertension, Focal segmental glomerulosclerosis, Hyperlipidemia, Stage 5 chronic kidney disease,... OMIM:603278
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections, Osteoporosis OMIM:615468
Senior-Loken Syndrome
Hypertension, Congenital hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Prem... ORPHA:3156
Dentinogenesis Imperfecta, Shields Type Iii
Periapical bone loss, Anterior open-bite malocclusion, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Flynn-Aird Syndrome
Cachexia, Type II diabetes mellitus, Primary adrenal insufficiency, Abnormality of the thyroid gl... ORPHA:2047
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Macroorchidism, Hyponatremia, Adrenal hyperplasia, Hypoglycemia, Hyperactive renin-... ORPHA:90790
Gaisböck Syndrome
Fatigue, Diabetes mellitus, Increased circulating renin level, Epigastric pain, Coronary artery a... ORPHA:90041
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Eczema, Recurrent viral infections, Thrombocytopenia, Impaired platelet ... OMIM:617443
Mccune-Albright Syndrome
Increased serum testosterone level, Goiter, Increased circulating cortisol level, Hepatitis, Hypo... ORPHA:562
Reticular Dysgenesis
Sepsis, Lack of T cell function, Impaired T cell function OMIM:267500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Failure to thrive, Cardiomyopathy, Pancreatitis, Splenomegaly, Hyperammonemia, Rena... ORPHA:79312
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis, Hypoplastic hippocampus, Agenesis of corpus callosum, Cerebral atrophy OMIM:600329
Otopalatodigital Syndrome Type 1
Cleft palate, Oligodontia, Hypoplastic frontal sinuses, Abnormal vertebral segmentation and fusio... ORPHA:90650
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Anemia, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Atherosclerosis, Hypertriglycerid... OMIM:603813
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Vomiting, Failure to thrive, Abnormal heart morphology, Patent ductus arteriosus, D... OMIM:608104
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Small for gestational age, Increased urinary glycerol, Hyper... OMIM:307030
Neurotrophic Keratopathy
Allodynia, Diabetes mellitus, Anterior uveitis ORPHA:137596
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Polyphagia, Tall stature, Insulin-resistant diabetes mellitus at puberty, Polycysti... OMIM:608594
Osteogenesis Imperfecta, Type Xiii
Long philtrum, Osteoporosis, Thin vermilion border, Long eyelashes, Joint hypermobility, Increase... OMIM:614856
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Splenomegaly, Impaired collage... OMIM:187950
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Splenomegaly, Hyperammonemia, Cirrhosis, ... OMIM:271500
Relapsing Fever
Chills, Vomiting, Abnormality of the urinary system, Elevated circulating creatinine concentratio... ORPHA:91547
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Hepatosplenomegaly, Elevated circulating alkaline ph... ORPHA:84081
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Small for gestational age, Renal dysplasia, Elevated circulating creatinine concent... OMIM:616733
Alg1-Cdg
Hypoalbuminemia, Cerebellar atrophy, Nephrotic syndrome, Abnormal heart morphology, Cardiomyopath... ORPHA:79327
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Adrenal insufficiency, Polyphagia, Decreased response to growth hormone stimulation test, Hyperbi... OMIM:609734
Complement Component 8 Deficiency, Type Ii
Meningitis, Decreased serum complement C8, Recurrent Neisserial infections OMIM:613789
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Patent d... OMIM:616000
Familial Expansile Osteolysis
Premature loss of teeth, Thin bony cortex, Pathologic fracture, Fragile teeth, Osteolysis OMIM:174810
Donohue Syndrome
Fasting hypoglycemia, Hepatic fibrosis, Long penis, Hyperglycemia, Precocious puberty, Pancreatic... OMIM:246200
Secondary Short Bowel Syndrome
Central hypothyroidism, Polyphagia, Vomiting, Failure to thrive, Weight loss, Primary hypothyroid... ORPHA:95427
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Type IV athe... OMIM:144300
Pyle Disease
Carious teeth, Hypoplastic frontal sinuses, Mandibular prognathia, Delayed eruption of teeth, Red... OMIM:265900
Complement Factor D Deficiency
Complement deficiency, Recurrent bacterial infections OMIM:613912
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Micrognathia, High palate, Thin bony cortex, Malar flattening, Obtuse angle of mandible, Osteopen... ORPHA:85184
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal neovascularization, Retinal detachment, Vitreo... OMIM:193220
Bardet-Biedl Syndrome 1
Hypertension, Abnormality of the ovary, Hepatic fibrosis, Insulin resistance, Truncal obesity, Hy... OMIM:209900
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Abnormal circulating lipid concentration, Weight loss, Hyperlipoproteinemia, Type I dia... ORPHA:1979
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function, Abnormal mitral valve morphology ORPHA:903
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Failure to thrive, Splenomegaly, Myalgia, Increased circulating ferritin concentra... OMIM:616050
Albers-Schönberg Osteopetrosis
Carious teeth, Generalized osteosclerosis, Anemia, Arthritis, Osteomyelitis, Mandibular osteomyel... ORPHA:53
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Nephronophthisis, Glucose intolerance,... OMIM:615630
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Proteinuria, Hypertriglyceridemia, Foam cells, Renal ins... OMIM:245900
Ck Syndrome
Micrognathia, High palate, Malar flattening, Abnormal cortical bone morphology, Joint hypermobili... OMIM:300831
Joubert Syndrome 26
Central hypothyroidism, Cleft palate, Cleft lip, Recurrent upper respiratory tract infections, Pa... OMIM:616784
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... ORPHA:486
Fanconi-Bickel Syndrome
Fasting hypoglycemia, Increased hepatic glycogen content, Abnormal hepatic glycogen storage, Hypo... ORPHA:2088
Complement Factor H Deficiency
Recurrent bacterial infections, Decreased serum complement factor H, Hematuria, Depletion of comp... OMIM:609814
Dysosteosclerosis
Abnormal dental enamel morphology, Delayed eruption of teeth, Coarse metaphyseal trabecularizatio... ORPHA:1782
Granulomatosis With Polyangiitis
Sinusitis, Chronic otitis media, Abnormality of the hypothalamus-pituitary axis, Recurrent intrap... ORPHA:900
Bacterial Toxic-Shock Syndrome
Myocarditis, Sinusitis, Chills, Fasciitis, Hepatitis, Septic arthritis, Diarrhea, Abdominal pain,... ORPHA:36234
Bloom Syndrome
Oligospermia, Neoplasm of the skin, Acute lymphoblastic leukemia, Severe varicella zoster infecti... ORPHA:125
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Neuronal loss in central nervous system, Tremor, Hypertriglyceridemia, Cerebral atr... OMIM:615924
Glycogen Storage Disease Ib
Hypertension, Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Hep... OMIM:232220
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, ... ORPHA:84090
Classical-Like Ehlers-Danlos Syndrome Type 1
Mitral valve prolapse, Precocious atherosclerosis, Myalgia, Arthralgia, Gastrointestinal hemorrha... ORPHA:230839
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Splenomegaly, Decreased circulating total IgM, Eosinophilia, Decreased circulating IgG... OMIM:102700
Alg6-Cdg
Failure to thrive, Abnormality of the liver, Increased circulating androgen concentration, Hypoal... ORPHA:79320
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia ORPHA:366
Sting-Associated Vasculopathy, Infantile-Onset
Telangiectasia, Thrombocytosis, Pustule, Leukopenia, Myositis, Increased circulating IgA level, F... OMIM:615934
Autosomal Dominant Polycystic Kidney Disease
Aortic root aneurysm, Decreased glomerular filtration rate, Chronic kidney disease, Dilatation of... ORPHA:730
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia, Skin rash OMIM:619175
Hardikar Syndrome
Cholangitis, Decreased serum insulin-like growth factor 1, Intrahepatic bile duct cysts, Patent d... OMIM:301068
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, D... ORPHA:231226
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Carious teeth, Increased susceptibility to fractures, Hyperostosis, Dentinogenesis imperfecta, Li... OMIM:604922
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Decreased circulating ceruloplasmin concentration, Hyper... OMIM:616829
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... OMIM:615513
Trigeminal Neuralgia
Allodynia, Ocular pain, Trigeminal neuralgia, Vascular tortuosity, Mandibular pain ORPHA:221091
Igg4-Related Retroperitoneal Fibrosis
Fatigue, Ureteropelvic junction obstruction, Elevated circulating C-reactive protein concentratio... ORPHA:49041
Fadd-Related Immunodeficiency
Ventricular septal defect, Hepatic fibrosis, Decreased liver function, Cerebral atrophy, Pulmonar... ORPHA:306550
Estrogen Resistance Syndrome
Overgrowth, Tall stature, Elevated tissue non-specific alkaline phosphatase, Glucose intolerance,... ORPHA:785
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Telangiectasia, Hepatomegaly, Insulin resistance, Hypogonadism, Hepatic steatosis, Diabetes melli... OMIM:615381
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... ORPHA:567548
Mental Retardation, X-Linked 14
Macroorchidism OMIM:300062
Marburg Hemorrhagic Fever
Hypoglycemia, Chills, Hyperammonemia, Uveitis, Maculopapular exanthema, Diarrhea, Abdominal pain,... ORPHA:99826
Pseudoxanthoma Elasticum
Hypertension, Abnormal endocardium morphology, Mitral valve prolapse, Angina pectoris, Nephrocalc... ORPHA:758
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Oroticaciduria, Decreased response to growth hormone stimulation te... ORPHA:470
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Microdontia, Amelogenesis imperfecta OMIM:301200
Laurence-Moon Syndrome
Type II diabetes mellitus, Congenital hepatic fibrosis, Displacement of the urethral meatus, Obes... ORPHA:2377
Eosinophilopenia
Autoimmunity OMIM:131430
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Sitosterolemia 2
Hypercholesterolemia, Premature coronary artery atherosclerosis, Elevated circulating sitosterol ... OMIM:618666
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Hepatocellular carcinoma, Ballooning hepatocyte degeneration, Argininosuccinic ... OMIM:603471
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Neutropenia, Absent neutrophil specific granules, Failure... OMIM:617475
Lcat Deficiency
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis, Decreased glo... ORPHA:650
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Focal segmental glomerulosclerosis, Hypoglycemia, Nephrotic syndrome, Stag... OMIM:617575
Pediatric-Onset Graves Disease
Increased circulating T4 level, Goiter, Splenomegaly, Sinus tachycardia, Diarrhea, Graves disease... ORPHA:525731
Microscopic Polyangiitis
Sinusitis, Gastrointestinal hemorrhage, Vasculitis, Uveitis, Diarrhea, Abdominal pain, Pericardit... ORPHA:727
Athrombia, Essential
Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhesion OMIM:209050
Hermansky-Pudlak Syndrome 2
Recurrent bacterial infections, Neutropenia, Ocular albinism, Chronic oral candidiasis, Recurrent... OMIM:608233
Kerion Celsi
Lymphadenopathy, Recurrent skin infections, Inflammatory abnormality of the skin, Recurrent cutan... ORPHA:499
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Decreased response to growth hormone stimulation test, Craniosynostosis, Cerebral calcification OMIM:225755
Leukocyte Adhesion Deficiency
Sinusitis, Sepsis, Recurrent aphthous stomatitis, Hemolytic-uremic syndrome, Recurrent staphyloco... ORPHA:2968
Mental Retardation, X-Linked 2
Macroorchidism OMIM:300428
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Multiple prenatal fractures, Bowing of limbs due to multiple fr... OMIM:259440
Wiskott-Aldrich Syndrome
Sinusitis, Sepsis, Eczema, Inflammation of the large intestine, Neutropenia, Abnormal platelet fu... ORPHA:906
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia, Primary gonadal ins... ORPHA:436182
Beemer-Ertbruggen Syndrome
Micrognathia, Deep philtrum, Increased bone mineral density, Thrombocytopenia, Cryptorchidism ORPHA:1237
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Carious teeth, Micrognathia, Sparse eyelashes, Smooth philtrum, Alopecia, Malar flattening, Midli... OMIM:129540
Simple Cryoglobulinemia
Raynaud phenomenon, Mesangial hypercellularity, Gastrointestinal hemorrhage, Vasculitis, Microsco... ORPHA:91139
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Hyperlipoproteinemia, Abdominal pain, Splenomegaly OMIM:118830
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Osteomyelitis, ... OMIM:259700
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Failure to thrive, Anemia, Recurrent infections, Splenomegaly, Increased... OMIM:615285
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Seizure, Polymicrogyria, Hyp... OMIM:604213
Diastrophic Dysplasia
Micrognathia, Cleft palate, Recurrent respiratory infections, Increased bone mineral density, Cam... ORPHA:628
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Increased LDL cholesterol concentration, Elevated ci... OMIM:616828
Avian Influenza
Infectious encephalitis, Pneumonia, Vomiting, Elevated circulating creatine kinase concentration,... ORPHA:454836
Transaldolase Deficiency
Telangiectasia, Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Small for gestational ... OMIM:606003
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, Inflammation of the large intestine, B lymphocytopenia, Monocytosis... OMIM:619281
Mirage Syndrome
Hypospadias, Sepsis, Adrenal insufficiency, Hypoglycemia, Shawl scrotum, Hyponatremia, Myelodyspl... OMIM:617053
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Bicuspid aortic valve, Inflammation of the large intestine, Hyperlipidemia,... ORPHA:99413
Mosaic Monosomy X
Secondary amenorrhea, Bicuspid aortic valve, Inflammation of the large intestine, Hyperlipidemia,... ORPHA:99228
Monosomy X
Secondary amenorrhea, Bicuspid aortic valve, Inflammation of the large intestine, Hyperlipidemia,... ORPHA:99226
Turner Syndrome
Secondary amenorrhea, Bicuspid aortic valve, Inflammation of the large intestine, Hyperlipidemia,... ORPHA:881
Bone Marrow Failure Syndrome 3
Micrognathia, Hypodontia, Microdontia, Pancytopenia, Nail dystrophy, Bone marrow hypocellularity,... OMIM:617052
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Tachycardia, Tremo... ORPHA:276608
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level, Neutropenia OMIM:162700
Car T Cell Therapy-Associated Cytokine Release Syndrome
Decreased urine output, Reduced ejection fraction, Vomiting, Nausea, Elevated circulating creatin... ORPHA:542323
Mulibrey Nanism
Hypodontia, Hypoplastic frontal sinuses, Thickened cortex of long bones, Microglossia, Absent fro... OMIM:253250
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Fatigue, Chronic kidney disease, Elevated circulating C-reactive pr... ORPHA:449395
Homozygous Familial Hypercholesterolemia
Coronary artery aneurysm, Myocardial steatosis, Hyperlipidemia, Premature coronary artery atheros... ORPHA:391665
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Central hypothyroidism, Double outlet right ventricle, Chronic kidney... ORPHA:1667
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Enteroviral hepatitis, Recurrent bacterial infections, Infectious encephalitis, Pyoder... OMIM:307200
47,Xyy Syndrome
Hypospadias, Oligospermia, Macroorchidism, Increased serum testosterone level, Azoospermia, Incre... ORPHA:8
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent respiratory infections, Decreased circulating antibody level, Recurrent infections, Rec... OMIM:617744
C3 Glomerulopathy
Hypertension, Nephrotic syndrome, Elevated circulating creatinine concentration, Hematuria, Stage... ORPHA:329918
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism OMIM:300123
Scorpion Envenomation
Myocarditis, Prominent U wave, Chills, Cardiac conduction abnormality, ST segment depression, Acu... ORPHA:466677
46,Xx Gonadal Dysgenesis
Abnormality of secondary sexual hair, Streak ovary, Sparse pubic hair, Decreased serum estradiol,... ORPHA:243
Prader-Willi Syndrome
Hypoplastic labia minora, Premature adrenarche, Decreased inhibin B level, Periodontitis, Diabete... ORPHA:739
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Recurrent otitis media, Hypercholesterolemia, Postnatal gro... ORPHA:254531
Nephronophthisis 16
Hypertrophic cardiomyopathy, Hepatic fibrosis, Situs inversus totalis, Nephronophthisis, Patent d... OMIM:615382
Bartter Syndrome, Type 2, Antenatal
Small for gestational age, Nephrocalcinosis, Increased urinary potassium, Failure to thrive, Hype... OMIM:241200
Benign Schwannoma
Abnormality of the liver, Pain, Allodynia, Abnormality of the adrenal glands ORPHA:252164
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Nephrotic syndrome, Decreased serum complement C3, Membranoprolif... OMIM:613779
Systemic Capillary Leak Syndrome
Myocarditis, Constitutional symptom, Pericarditis, Weight loss, Pancreatitis, Myalgia, Oliguria, ... ORPHA:188
Beta-Thalassemia Major
Dilated cardiomyopathy, Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, D... ORPHA:231214
Thrombotic Thrombocytopenic Purpura
Hematuria, Decreased serum creatinine, Myocardial infarction, Acute kidney injury, Proteinuria, A... ORPHA:54057
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, External genital hypoplasia, Polyphagia ORPHA:177910
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Recurrent bronchitis, Decreased circulating IgG level, Otitis media, Decrea... OMIM:312863
Caroli Disease
Cholangitis, Chills, Cholangiocarcinoma, Splenomegaly, Conjugated hyperbilirubinemia, Elevated ci... ORPHA:53035
Narcolepsy 1
Narcolepsy OMIM:161400
Narcolepsy 3
Narcolepsy OMIM:609039
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Neutropenia OMIM:300299
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Recurrent mycobacterial infections OMIM:616126
Familial Cerebral Saccular Aneurysm
Hypertension, Aortic dissection, Intracranial hemorrhage, Abnormal circle of Willis morphology, A... ORPHA:231160
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprotein Ib, Aortic regurgita... OMIM:603585
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Cockayne Syndrome
Abnormal renal physiology, Splenomegaly, Postnatal growth retardation, Diabetes mellitus, Cerebra... ORPHA:191
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent infections, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B ce... OMIM:615559
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations, Myalgia ORPHA:488650
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis, Leukocytosis, Osteopetrosis, Anemia, Splenomegaly, Hepato... OMIM:612840
Parathyroid Carcinoma
Shortened QT interval, Thyroid carcinoma, Hypophosphatemia, Abnormality of the parathyroid morpho... ORPHA:143
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Osteoporosis, Delayed eruption of teeth, Hypogona... OMIM:612462
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Ureteropelvic junction obstruction, Dia... OMIM:137920
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure OMIM:300886
Pelizaeus-Merzbacher Disease