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Gene: Nos2 MGI:97361

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
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

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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.

Eye Morphology

VIP of left eye

15 Images

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Eye Morphology

VIP of right eye

15 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

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X-ray

XRay Images Skull Lateral Orientation

7 Images

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Eye Morphology

VIP of right fundus

14 Images

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Eye Morphology

VIP of left fundus

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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X-ray

XRay Images Forepaw

7 Images

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X-ray

XRay Images Whole Body Dorso Ventral

7 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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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
Abnormality of the urinary system, Head-banging, Abnormal heart morphology, Abnormality of the th... OMIM:182290
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Hyperglycemia, Increased LDL cholesterol concentration, Type II diabete... OMIM:615812
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Reduced cerebral white matter volume, Seizure, Secondary microcephaly, Dyspl... OMIM:620317
Immunodeficiency 67
Recurrent staphylococcal infections, Abnormal T cell count, Abnormal natural killer cell count, I... OMIM:607676
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Weight loss, Abnormality of the kidney, Nephrotic syndrome, Vasculiti... ORPHA:91139
Transaldolase Deficiency
Hepatic fibrosis, Clitoral hypertrophy, Small for gestational age, Micronodular cirrhosis, Decrea... OMIM:606003
Fragile X Syndrome
Self-injurious behavior, Otitis media, Attention deficit hyperactivity disorder, Sinusitis, Macro... ORPHA:908
Benign Schwannoma
Abnormality of the liver, Abnormality of the adrenal glands, Pain, Allodynia ORPHA:252164
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Methicillin-resistant ... OMIM:618282
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Foam cells, Cirrhosi... OMIM:269600
Fish-Eye Disease
Atherosclerosis, Splenomegaly, Angina pectoris, Decreased HDL cholesterol concentration, Hepatome... ORPHA:79292
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Methanol Poisoning
Type I diabetes mellitus, Diarrhea, Vomiting, Permanent atrial fibrillation, Inflammatory arterio... ORPHA:31825
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir... OMIM:614699
Hypercalciuria, Absorptive, 2
Calcium oxalate nephrolithiasis, Hypercalciuria OMIM:143870
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypoplasia of the u... OMIM:137920
Immunodeficiency 97 With Autoinflammation
Diarrhea, Increased circulating lactate dehydrogenase concentration, Eczematoid dermatitis, Recur... OMIM:619802
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hyperi... ORPHA:99413
Mosaic Monosomy X
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hyperi... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hyperi... ORPHA:99226
Turner Syndrome
Inflammation of the large intestine, Recurrent otitis media, Postnatal growth retardation, Hyperi... ORPHA:881
Immunodeficiency 116
Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial infections, Recu... OMIM:608957
Obesity And Hypopigmentation
Hyperinsulinemia, Obesity, Hepatic steatosis, Polyphagia, Overgrowth OMIM:620195
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Failure to thrive, Decreased response to growth hormone stimulation test, P... OMIM:606407
Parathyroid Carcinoma
Shortened QT interval, Abnormal parathyroid morphology, Hypophosphatemia, Weight loss, Dysphagia,... ORPHA:143
Avian Influenza
Hypoalbuminemia, Pneumonia, Acute kidney injury, Elevated circulating hepatic transaminase concen... ORPHA:454836
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity OMIM:300143
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Melas
Nephropathy, Diarrhea, Type II diabetes mellitus, Hypoparathyroidism, Focal segmental glomerulosc... ORPHA:550
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... OMIM:166600
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Spontaneous, recurrent epistaxis, Thrombocytopenia, Ma... OMIM:620486
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... OMIM:615285
Coach Syndrome 1
Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Elevated circulating hepatic trans... OMIM:216360
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Hypereosinophilia, Corneal neovascularization, Autoimmune hemolytic anemia, Sp... OMIM:617388
Partington Syndrome
Macroorchidism, Facial telangiectasia ORPHA:94083
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Inflammation of the large intestine, Abnormal T cell count, Fail... OMIM:615767
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Bardet-Biedl Syndrome 1
Insulin resistance, Hepatic fibrosis, Abnormality of the ovary, Decreased testicular size, Hypogo... OMIM:209900
Ck Syndrome
Dental crowding, Retrognathia, Micrognathia, Abnormal cortical bone morphology, Malar flattening,... OMIM:300831
Beta-Thalassemia Major
Diarrhea, Hypopituitarism, Hepatosplenomegaly, Hypersplenism, High-output congestive heart failur... ORPHA:231214
Postinfectious Vasculitis
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Retinal vasculitis, Increa... ORPHA:48435
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Partial absence of specific antibody respon... OMIM:619824
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Atopic dermatitis, Retinal neovascularization OMIM:619074
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Cerebellar vermis atrophy, Splenome... OMIM:616719
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Pancreatitis, Hepatomegaly, Dysto... ORPHA:289916
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis, Hepatic failure, Dysphagia, Atherosclerosis ORPHA:2724
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Eczematoid dermatitis, Cryptorchidism, Hernia of the abdominal wall, Aplasia/Hypoplasia of the te... ORPHA:3055
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Aortic atherosclerotic lesion, Cholestasis, Increased LDL cho... ORPHA:209902
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Xp22.13P22.2 Duplication Syndrome
Recurrent upper respiratory tract infections, Umbilical hernia, Congenital diaphragmatic hernia, ... ORPHA:284180
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Male hypogonadism, Bruxism, Wrist flexion contracture, Macroorchidism, Flexion contracture, Restl... OMIM:300055
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Nail dystrophy, Oral mucosal blisters, Scarring alopecia of scalp, Enamel hypop... ORPHA:79402
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:242900
Crimean-Congo Hemorrhagic Fever
Diarrhea, Morbilliform rash, Hematuria, Arthralgia, Erythema nodosum, Anorexia, Hepatomegaly, Abd... ORPHA:99827
Maple Syrup Urine Disease, Type Ia
Elevated circulating branched chain amino acid concentration, Vomiting, Increased level of hippur... OMIM:248600
Boutonneuse Fever
Vasculitis, Leukopenia, Renal insufficiency, Skin rash, Thrombocytopenia, Increased circulating I... ORPHA:83313
Prader-Willi Syndrome
Small scrotum, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Chronic constipation,... OMIM:176270
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Decreased circulating carnitine concentration, Cerebellar atrophy, Organic aciduria, Abnormal cir... ORPHA:431361
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Sparse pubic hair, Osteopenia, Streak ovary, Abnormality of secondary ... ORPHA:243
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Joint stiffness... OMIM:620210
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Tall stature, Decreased fertility, Weight loss, Renal... ORPHA:90794
Hemochromatosis, Type 4
Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Hepatic steato... OMIM:606069
Transcobalamin Deficiency
Decreased circulating IgG level, Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Decrea... ORPHA:859
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Sparse hair, Enamel hypoplasia, Hyperhidrosis OMIM:613576
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Small for gestational age, Second degree atrioventricular block, Decreased liver... OMIM:617021
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Decreased serum insulin-like growth factor 1, Elevated circulating growth ho... ORPHA:85327
Graves Disease
Graves disease, Congestive heart failure, Goiter, Increased circulating free T3, Polyphagia, Weig... OMIM:275000
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Acatalasemia
Type I diabetes mellitus, Type II diabetes mellitus, Pain, Gangrene, Reduced circulating catalase... ORPHA:926
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Flexion contracture, Skeletal muscle atrophy, Hypoplasia of the corpu... OMIM:613162
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Premature Ovarian Failure 17
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... OMIM:619146
Cole-Carpenter Syndrome 1
Osteopenia, Coronal craniosynostosis, Dentinogenesis imperfecta, Orbital craniosynostosis, Microg... OMIM:112240
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Hyperparathyroidism-Jaw Tumor Syndrome
Shortened QT interval, Abnormal parathyroid morphology, Hypophosphatemia, Parathyroid adenoma, Dy... ORPHA:99880
Medullary Sponge Kidney
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis ORPHA:1309
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Premature coronary artery... OMIM:300845
Lethal Recessive Chondrodysplasia
Micrognathia, Macroglossia, Generalized osteosclerosis ORPHA:1423
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Obesity, Polyphagia ORPHA:329249
Bone Marrow Failure Syndrome 3
Aplastic anemia, Persistence of hemoglobin F, Pancytopenia, Micrognathia, Cryptorchidism, Oral ul... OMIM:617052
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated gamma-glutamyltransferase level, Recurrent urinary tract infections, Elevated circulatin... OMIM:613095
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Diarrhea, Hyperphosphatemia, Decreased body weight, Hematuria, Glomerulon... ORPHA:340
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Sepsis, Abnormality of thrombocytes, Extramedullary hematopoiesis, Hepatosplenomegaly,... OMIM:612840
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia OMIM:617119
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Mirizzi Syndrome
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Abdominal colic, Vomitin... ORPHA:521219
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Type II diabetes mellitus, Bicuspid aortic valve, H... ORPHA:401923
Familial Chylomicronemia Syndrome
Pulmonary embolism, Failure to thrive, Increased circulating chylomicron concentration, Hepatospl... ORPHA:444490
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Increased circulating ferritin conc... OMIM:300635
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Enamel hypoplasia, Downturned corners of mouth, Neutropenia ORPHA:2643
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ... ORPHA:100024
Hereditary Pulmonary Alveolar Proteinosis
Failure to thrive in infancy, Elevated circulating carcinoembryonic antigen concentration, Foam c... ORPHA:264675
Hermansky-Pudlak Syndrome 3
Impaired platelet aggregation, Abnormal number of dense granules, Spontaneous, recurrent epistaxis OMIM:614072
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Decreased circulatin... ORPHA:397596
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Schaaf-Yang Syndrome
Hypogonadism, Cryptorchidism, Polyphagia, Skin-picking, Camptodactyly, Micropenis, Flexion contra... OMIM:615547
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Arrhythmia, Elevated circulating c... OMIM:616516
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Alopecia universalis, Carious teeth, Elevated circulating parath... OMIM:277440
Type 1 Diabetes Mellitus
Polydipsia, Hyperglycemia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum,... OMIM:222100
Complex Regional Pain Syndrome
Limb pain, Allodynia ORPHA:83452
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Macroorchidism, Enamel hypoplasia ORPHA:139474
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Failure to thrive, Agammaglobulinemia, Seborrheic dermatitis, Absent circu... OMIM:619693
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kid... OMIM:615008
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Microcytic anemia, Muscle he... ORPHA:903
Dpm1-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Diarrhea, Failure to t... ORPHA:79322
Laron Syndrome
Hypoglycemia, Abnormality of the endocrine system, Hypohidrosis, Hypercholesterolemia, Delayed pu... ORPHA:633
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilate... ORPHA:367
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Primary Biliary Cholangitis
Elevated gamma-glutamyltransferase level, Xanthelasma, Elevated circulating alkaline phosphatase ... ORPHA:186
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Pseudobulbar paralysis, Neck pain, Stroke-like episode, Lower limb pain, Stroke, Aggressive behav... ORPHA:199354
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu... OMIM:617638
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Ulcerative colitis, Decr... OMIM:618394
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Congenital hypothyroidism, Obesity, Cardiomegaly, Colitis ORPHA:88643
Generalized Pustular Psoriasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Congestive heart failur... ORPHA:247353
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Insulin-resistant diabetes mellitus, Hyperglyc... ORPHA:79474
Immunoglobulin A Deficiency 2
Autoimmunity OMIM:609529
Microsporidiosis
Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog... ORPHA:2552
Mitochondrial Complex I Deficiency, Nuclear Type 8
Dysphagia, Dystonia, Pancreatitis, Axial dystonia OMIM:618230
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Recurrent viral infections, Increased circulating IgE level, Eosinophilic infi... OMIM:620532
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmunity, Autoimmune hemolytic anemia, Systemic lupus erythematosus ORPHA:444463
Bardet-Biedl Syndrome 13
Obesity, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone ... OMIM:615990
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Hypoalbuminemia, Cerebral cortical atrophy, Stage 5 chronic k... OMIM:618349
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosi... OMIM:241200
Infection-Related Hemolytic Uremic Syndrome
Diarrhea, Abdominal pain, Hyperkalemia, Acute kidney injury, Anuria, Hypocalcemia, Nephrotic rang... ORPHA:544482
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Complement Factor I Deficiency
Vasculitis, Decreased circulating complement factor B concentration, Recurrent urinary tract infe... OMIM:610984
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Porphyrinuria, Addictive alcohol use, Eczematoid dermatitis OMIM:176090
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, Absence of pubertal development, Type II diabetes mellitus, Cryptorchidism, Polyph... ORPHA:398069
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Increased ... OMIM:300636
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Immunodeficiency 84
Splenomegaly, Perianal abscess, B-cell lymphoma, B lymphocytopenia, Recurrent bacterial infection... OMIM:619437
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Recurrent otitis media, Postnatal growt... ORPHA:96184
Zygomycosis
Diarrhea, Pustule, Acute infectious pneumonia, Abdominal pain, Endocarditis, Gastrointestinal hem... ORPHA:73263
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Psoriasiform dermatitis, Recurrent lower respiratory tract i... ORPHA:436159
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelofibrosis, Refractory anemia, I... OMIM:231095
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Cholestasis, Hypertrophic cardiomyo... OMIM:615382
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hepatic steatosis, Mitral regurgitation, Arthralgia, Ren... ORPHA:391665
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatic fibrosis, Acute hepatic failure, Cerebellar vermis atrophy, Hepatosplenomegaly, Intention... ORPHA:466794
Progressive Multifocal Leukoencephalopathy
Seizure, Decreased proportion of CD8-positive T cells, Abnormal astrocyte morphology, Limb muscle... ORPHA:217260
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Dystrophic ... ORPHA:69087
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type
Macroorchidism OMIM:300238
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... OMIM:618969
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:600995
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... OMIM:615980
Adult Acute Respiratory Distress Syndrome
Pneumonia, Vasculitis, Hypotension, Shock, Pancreatitis, Diabetic ketoacidosis ORPHA:70578
Niemann-Pick Disease, Type A
Vomiting, Athetosis, Failure to thrive, Cherry red spot of the macula, Elevated circulating aspar... OMIM:257200
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Hypohomocysteinemia, Hypocystinemia, Decreased circulating IgA level, Recurrent skin infections, ... OMIM:617744
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Dilated c... OMIM:616730
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Decreased response to growth hormone stimulation test, Decreased testicul... ORPHA:280679
Alkaptonuria
Aortic valve stenosis, Aortic valve calcification, Dark urine, Black pigment gallstones, Mitral r... ORPHA:56
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Mgat2-Cdg
Osteopenia, Decreased circulating IgG level, Gastroesophageal reflux, Seizure, Abnormal heart mor... ORPHA:79329
Alström Syndrome
Chronic kidney disease, Testicular fibrosis, Elevated gamma-glutamyltransferase level, Decreased ... ORPHA:64
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating horm... OMIM:610199
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Hypophosphatemia, Aminoaciduria, P... ORPHA:411634
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Delayed eruption of teeth, Hypogonadism, Pseudohy... OMIM:103580
Gorham-Stout Disease
Osteopenia, Abnormal facial skeleton morphology, Abnormality of the temporomandibular joint, Path... ORPHA:73
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Limitation of joint mobility, Anodontia, Oligodontia, Increased bone ... ORPHA:90650
Abetalipoproteinemia
Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Hepatomegaly, Hypotriglyceridemia, Myalgia, Dec... ORPHA:14
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Failur... ORPHA:90674
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:612462
Pycnodysostosis
Narrow palate, Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of pri... OMIM:265800
Trichohepatoenteric Syndrome 1
Cholestasis, Ventricular septal defect, Cirrhosis, Hepatomegaly, Jaundice, Hypospadias, Aortic re... OMIM:222470
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media... OMIM:618986
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Mitral regurgitation,... ORPHA:740
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Immunodeficiency 44
Post-vaccination measles, Severe viral infection, Lymphopenia, Decreased circulating IgA level, A... OMIM:616636
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin... OMIM:618329
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Micrognathia, Malar flattening, Obtuse angle of mandible, Thin bony cortex, Curly hai... ORPHA:85184
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopenia, Anemia, Increased bone mineral de... OMIM:611490
Gray Platelet Syndrome
Epistaxis, Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Spl... OMIM:139090
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul... OMIM:619924
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated gamma-glutamyltransferase level, Unbalanced atrioventricular canal defect, Dilatation of... OMIM:619534
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Cryptorchidism, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity... ORPHA:228402
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Decreased circulating total IgG, Decreased lymphocyte proliferation i... ORPHA:221139
Rapp-Hodgkin Syndrome
Carious teeth, Velopharyngeal insufficiency, Supernumerary nipple, Recurrent otitis media, Progre... OMIM:129400
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Hematochezia, Recurrent viral infections, Eczematoid dermatiti... OMIM:620565
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level OMIM:619549
Bleeding Disorder, Platelet-Type, 8
Epistaxis, Impaired ADP-induced platelet aggregation OMIM:609821
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Failure to thrive, Atherosclerosis, Mitral regurgitation, Right bundle branch ... OMIM:614008
48,Xyyy Syndrome
Male hypogonadism, Recurrent upper respiratory tract infections, Long philtrum, Thick lower lip v... ORPHA:99329
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Partial absence ... OMIM:620430
Mccune-Albright Syndrome
Precocious puberty, Hyperparathyroidism, Craniofacial hyperostosis, Pituitary adenoma, Increased ... OMIM:174800
Osteogenesis Imperfecta, Type Xiii
Dentinogenesis imperfecta, Long philtrum, Increased bone mineral density, Long eyelashes, Joint h... OMIM:614856
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Increased serum estradiol... ORPHA:1501
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Hypothyroidism, Central, With Testicular Enlargement
Reduced circulating prolactin concentration, Hypothyroidism, Inappropriately normal thyroid-stimu... OMIM:300888
Beemer-Ertbruggen Syndrome
Micrognathia, Cryptorchidism, Deep philtrum, Thrombocytopenia, Increased bone mineral density ORPHA:1237
Verrucous Hemangioma
Hemangioma, Inflammatory abnormality of the skin, Papilloma ORPHA:464318
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Absence ... OMIM:187900
Coffin-Siris Syndrome 8
Self-injurious behavior, Eczematoid dermatitis, Cryptorchidism, Inguinal hernia, Aggressive behav... OMIM:618362
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
Albers-Schönberg Osteopetrosis
Abnormality of the dentition, Mandibular osteomyelitis, Carious teeth, Osteomyelitis, Abnormal le... ORPHA:53
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Eleva... OMIM:301077
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
X-Linked Intellectual Disability, Cilliers Type
Coronal craniosynostosis, Male hypogonadism, Absence of secondary sex characteristics, Decreased ... ORPHA:163971
Caroli Syndrome
Hypersplenism, Hyperbilirubinemia, Elevated circulating alkaline phosphatase concentration, Conge... ORPHA:480520
H Syndrome
Bronchiectasis, Hypogonadism, Decreased testicular size, Azoospermia, Hepatosplenomegaly, Facial ... ORPHA:168569
Cog4-Cdg
Elevated circulating hepatic transaminase concentration, Frontotemporal cerebral atrophy, Failure... ORPHA:263501
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Cerebellar vermis atrophy, Global brain atrophy, Hypercholesterolemia ORPHA:94124
Lujan-Fryns Syndrome
Attention deficit hyperactivity disorder, Macroorchidism, Camptodactyly of finger ORPHA:776
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Cerebellar atrophy, Cerebral atrophy, Increased circulating ferritin concentra... OMIM:620603
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Recurrent viral infections, Chronic otitis media, Recurrent candida... ORPHA:217390
Neutropenia, Severe Congenital, X-Linked
Eczematoid dermatitis, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia, Recurrent bacterial i... OMIM:300299
Precocious Puberty, Central, 1
Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele... OMIM:176400
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Decreased c... OMIM:619752
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormality... ORPHA:36426
Behçet Disease
Mitral regurgitation, Arthralgia, Weight loss, Anorexia, Abdominal pain, Endocarditis, Aortic reg... ORPHA:117
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hematochezia, Diarrhea, Hep... OMIM:613812
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Diarrhea, Increased circulating lactate dehydrogenase concentration, Anuria,... ORPHA:90038
Liddle Syndrome 2
Hypokalemia, Decreased circulating renin level OMIM:618114
Liddle Syndrome 3
Hypokalemia, Decreased circulating renin level OMIM:618126
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:614131
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Elevated circulating parathyroid hormone level, Rickets, Delayed... OMIM:264700
Pelizaeus-Merzbacher Disease
Seizure, Reduction of oligodendroglia, Microcephaly, Thin corpus callosum, Dysphagia, Cerebral dy... OMIM:312080
Pfeiffer-Palm-Teller Syndrome
Joint stiffness, Enamel hypoplasia ORPHA:2871
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti... ORPHA:79124
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Diarrhea, Pulmonary embolism, Vomiting, Intestinal lymphangiectasia, Budd-Chiari... OMIM:226300
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased circulating cortisol level, Increased urinary cortisol level, Hepatic steatosis, Increa... ORPHA:189427
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Histiocytosis, Skin rash ORPHA:157997
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... ORPHA:449400
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Exercise intolerance, Elevated circulating hepatic transaminase concentration, H... OMIM:619013
Aromatase Deficiency
Insulin resistance, Female infertility, Male infertility, Ambiguous genitalia, female, Female pse... ORPHA:91
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Asthen... ORPHA:2494
Junctional Epidermolysis Bullosa Inversa
Carious teeth, Enamel hypoplasia, Nail dystrophy, Oral mucosal blisters ORPHA:79405
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Arthritis, Anemia, Increased bone mineral density ORPHA:37748
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly, Type 1 muscle fiber predominance, Skeletal muscle atrophy OMIM:618276
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Pituitary Hormone Deficiency, Combined, 2
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... OMIM:262600
Panhypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95513
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Postnatal growth retardati... OMIM:613027
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Micrognathia, Bowing of limbs due to multiple fractures, Decreased cal... OMIM:259420
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Skin rash, Hypertrigl... OMIM:603552
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic regurgitation, Aortic root aneurysm, Aortic dissection... ORPHA:229
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Splenomegaly, Increased circula... OMIM:614470
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Elevated circulating alkaline phosphatase concentratio... OMIM:248250
Adenohypophysitis
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... ORPHA:95512
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Obesity, Brain atrophy, Proteinuria, Hypertension, Polyphagia, Delayed puberty, Incre... ORPHA:251004
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Premature coronary artery atherosclerosis, Hypocholesterolemia, Decreased ci... OMIM:620058
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Joint contracture of the hand, Keratitis, Eczematoid dermatitis, Recurrent otitis media, Increase... OMIM:618523
Weiss-Kruszka Syndrome
Abnormal heart morphology, Dysplastic corpus callosum ORPHA:502430
Eosinophilic Gastroenteritis
Hypoalbuminemia, Hematochezia, Allergic rhinitis, Diarrhea, Vomiting, Atopic dermatitis, Weight l... ORPHA:2070
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum, Joint hypermobility, Osteopo... OMIM:184260
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Diarrhea, Congestive he... ORPHA:67
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia, Cerebral atrophy, Cerebellar atrophy OMIM:607250
Immunodeficiency 21
Reduced natural killer cell count, Recurrent viral infections, Recurrent mycobacterium avium comp... OMIM:614172
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Pathologic fracture, Osteomyelitis, Pancytopenia, Splenomegaly, Femur fracture, Os... OMIM:259700
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Limb dystonia, Hepatic steatosis, Cirrho... OMIM:277900
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Arthralgia, ... OMIM:620376
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Global brain atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, H... OMIM:608776
Grant Syndrome
Open bite, Micrognathia, Abnormal cortical bone morphology, Abnormal palate morphology, Joint hyp... ORPHA:2097
Apolipoprotein A-I Deficiency
Premature coronary artery atherosclerosis, Abnormal circulating lipid concentration, Atherosclero... ORPHA:425
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Autoerythrocyte Sensitization Syndrome
Self-injurious behavior, Impaired platelet adhesion, Gastrointestinal hemorrhage, Vomiting, Diarr... ORPHA:324636
Werner Syndrome
Hypogonadism, Elevated circulating aspartate aminotransferase concentration, Low back pain, Eleva... OMIM:277700
Hypophosphatasia, Adult
Carious teeth, Rickets, Osteomalacia, Pathologic fracture, Premature loss of primary teeth, Incre... OMIM:146300
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocytic anemia, Elevated circulatin... OMIM:620501
Von Willebrand Disease, Type 3
Epistaxis, Thrombocytopenia, Impaired platelet aggregation, Joint hemorrhage, Prolonged bleeding ... OMIM:277480
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Sparse pubic hair, Dystrophic toenail, Atrophic, patchy alopecia, Nail dystro... ORPHA:251393
Pontocerebellar Hypoplasia Type 2
Abnormal cortical gyration, Gastroesophageal reflux, Generalized myoclonic seizure, Upper limb hy... ORPHA:2524
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... OMIM:617609
Chondrodysplasia, Blomstrand Type
Micrognathia, Malar flattening, Generalized osteosclerosis, Advanced ossification of carpal bones... OMIM:215045
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Alopecia, Carious teeth, Flexion contracture, Generalized hypoplasia of dental enamel OMIM:203550
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Splenomegaly, Night swe... ORPHA:507
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Spider hemangioma, Inflammation of the large intestine, Hypog... OMIM:232240
Familial Mediterranean Fever
Nephropathy, Diarrhea, Acute hepatic failure, Intestinal obstruction, Arrhythmia, Arthralgia, Abd... ORPHA:342
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Diarrhea, Vomiting, Failure to thrive, Glucose into... OMIM:606721
Blepharophimosis-Impaired Intellectual Development Syndrome
Cryptorchidism, Recurrent bronchitis, Sparse eyelashes, Sparse eyebrow, Long eyelashes, Low anter... OMIM:619293
Neutral Lipid Storage Disease With Myopathy
Exercise intolerance, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, My... OMIM:610717
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Elevated circulating hepatic transaminase concentration, Renal tubular cyst, Gl... OMIM:614817
Agammaglobulinemia, X-Linked
Enteroviral dermatomyositis syndrome, Recurrent otitis media, Prostatitis, Neutropenia, Recurrent... OMIM:300755
Vici Syndrome
Recurrent viral infections, Lymphopenia, Postnatal growth retardation, Decreased proportion of CD... OMIM:242840
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Hyperphosphatemia, Chronic mucocutaneous candidiasis, Laryngeal dystonia... ORPHA:36913
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Maculopapular exanthema, Crusting erythematous dermatitis, ... ORPHA:79147
Dysosteosclerosis
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption of teeth, Abnor... ORPHA:1782
Immunodeficiency 22
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:615758
Adams-Oliver Syndrome 6
Hepatic fibrosis, Renal hypoplasia, Tricuspid regurgitation, Portal hypertension, Splenomegaly, T... OMIM:616589
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615841
Roifman Syndrome
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Postnatal growth retardation,... ORPHA:353298
Smith-Lemli-Opitz Syndrome
Small scrotum, Recurrent otitis media, Cryptorchidism, Hepatic steatosis, Ventricular septal defe... OMIM:270400
Smith-Magenis Syndrome
Precocious puberty, Self-injurious behavior, Gastroesophageal reflux, Failure to thrive in infanc... ORPHA:819
Hypocomplementemic Urticarial Vasculitis
Conjunctivitis, Reduced circulating complement concentration, Episcleritis, Skin rash, Renal insu... ORPHA:36412
Bardet-Biedl Syndrome 9
Irregular menstruation, Polydipsia, Hyperglycemia, Obesity, Renal insufficiency, Polyphagia, Trun... OMIM:615986
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Reduced... OMIM:617241
Syndromic Diarrhea
Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial septal defect... ORPHA:84064
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosi... OMIM:601678
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating l... ORPHA:158057
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Failure to... OMIM:618987
Bernard-Soulier Syndrome
Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Impaired ristocetin-in... OMIM:231200
Autosomal Recessive Polycystic Kidney Disease
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni... ORPHA:731
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Alopecia, Elevated circulating parathyroid hormone level, Ricket... OMIM:600785
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abno... OMIM:601399
Hyperlipoproteinemia, Type I
Lactescent serum, Vomiting, Increased circulating chylomicron concentration, Hepatosplenomegaly, ... OMIM:238600
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... OMIM:256450
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Gastroesophageal reflux, Small for gestational age, Congenital nephrotic syndrom... OMIM:256300
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Vomiting, Epigastric pain, Hepatic necrosis, Portal vein thrombosis, Fatigue, H... ORPHA:33402
Hypoalphalipoproteinemia, Primary, 2
Premature coronary artery atherosclerosis, Decreased HDL cholesterol concentration OMIM:618463
Parenteral Nutrition-Associated Cholestasis
Elevated gamma-glutamyltransferase level, Hepatic failure, Elevated circulating hepatic transamin... ORPHA:567983
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Dilatation of the cerebral artery, Atherosclerosis ORPHA:91135
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615842
Hamamy Syndrome
Hypochromic anemia, Microcytic anemia, Micrognathia, Cryptorchidism, Sparse eyelashes, Low poster... OMIM:611174
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Cholestasis, Decreased response to growth hormone stimulation test, Adrenal insufficiency, Hyperb... OMIM:609734
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Arthralgia, Erythroderma, Myocardial eo... ORPHA:3260
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Hypoalbuminemia, Recurrent pneumonia, Congestive h... OMIM:617303
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Osteopenia, Ectopic anterior pituitary gland, Decreased response to ... ORPHA:90695
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Trichodental Dysplasia
Conical tooth, Fine hair, Hypodontia, Slow-growing hair, Brittle hair, Sparse hair, Odontodysplasia OMIM:601453
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Decreased lymph... ORPHA:35078
Lathosterolosis
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Elevated circulating lathoste... OMIM:607330
Intellectual Developmental Disorder, Autosomal Dominant 72
Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder, Shawl scrotum, Micropenis OMIM:620439
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... OMIM:616100
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormality... ORPHA:537
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Coronary artery ather... OMIM:132900
Senior-Loken Syndrome 9
Hepatic fibrosis, Nephronophthisis, Hypogonadism, Cholestasis, Obesity, Stage 5 chronic kidney di... OMIM:616629
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:98908
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Increased circulating gonadotropin level, Ost... OMIM:615300
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Recurrent upper res... OMIM:614069
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Nail dystrophy, Scarring alopecia of scalp, Enamel hypoplasia, Anemia OMIM:226670
Narcolepsy Type 1
Precocious puberty, Male sexual dysfunction, Female sexual dysfunction, Obesity, Restless legs, A... ORPHA:2073
Niemann-Pick Disease, Type C1
CNS foam cells, Splenomegaly, Foam cells, Fatal liver failure in infancy, Hepatomegaly, Low chole... OMIM:257220
Mody
Nephropathy, Insulin-resistant diabetes mellitus, Hyperglycemia, Abnormality of the kidney, Eleva... ORPHA:552
Alg12-Cdg
Hypoalbuminemia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Ga... ORPHA:79324
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Ventricular se... ORPHA:26793
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ... OMIM:615573
Diastrophic Dysplasia
Camptodactyly of finger, Joint stiffness, Micrognathia, Cryptorchidism, Joint hypermobility, Incr... ORPHA:628
Chédiak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Pleural effusion,... ORPHA:167
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure... ORPHA:324410
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Hypochromic anemia, Elevated circulating parathyroid hormone lev... ORPHA:289157
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618014
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Crohn's di... OMIM:619705
Rift Valley Fever
Macular edema, Hepatitis, Severe viral infection, Skin rash, Infectious encephalitis, Retinal vas... ORPHA:319251
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Vomiting, Dicarboxylic ... OMIM:613070
Spermatogenic Failure 28
Decreased serum testosterone concentration, Decreased testicular size, Elevated circulating lutei... OMIM:618086
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Macroscopic hematuria, Impaired ri... ORPHA:849
Coccidioidomycosis
Abnormality of the spleen, Morbilliform rash, Abnormality of the female genitalia, Abnormality of... ORPHA:228123
Proteus Syndrome
Mandibular hyperostosis, Facial hyperostosis, Open mouth, Splenomegaly, Thin bony cortex, Calvari... OMIM:176920
Amelogenesis Imperfecta, Type Ik
Amelogenesis imperfecta, Enamel hypoplasia OMIM:620104
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Elevated circulating hepatic transaminase concentration, Fai... ORPHA:88618
Complete Androgen Insensitivity Syndrome
Acne, Elevated circulating luteinizing hormone level, Abnormal morphology of female internal geni... ORPHA:99429
Kleine-Levin Syndrome
Hot flashes, Polydipsia, Abnormal eating behavior, Decreased libido, Sweet craving, Polyphagia, R... ORPHA:33543
Foxp1 Syndrome
Decreased circulating iron concentration, Failure to thrive, Recurrent otitis media, Abnormal hea... ORPHA:391372
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Hypopituitarism, Decreased thyroid-stimulating hormone level, Malar flattening, Decreased circula... OMIM:613038
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Shock, Addictive alcohol use, Elevated circulating C-reac... ORPHA:178320
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Abnormal oral mucosa morphology, Abnormality of the dentition, Alopecia, Carious teeth, Hypodonti... ORPHA:659
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Tiger tail banding, Slow-growing hair, Brittle hair, Increased HbA2 hem... OMIM:616943
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Retinitis Pigmentosa 89
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, ... OMIM:618955
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Diarrhea, Vomiting, Failure to thrive, Intraalveolar phospholipid ... OMIM:222700
Immunodeficiency 58
Allergic rhinitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic oti... OMIM:618131
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... OMIM:618117
Whim Syndrome
Cellulitis, Lymphadenitis, Lymphopenia, Neutropenia, Meningitis, Cutaneous melanoma, Otitis media... ORPHA:51636
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Postnatal growth re... ORPHA:54595
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid... OMIM:208540
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Optic atrophy, Recurrent pneumonia, Decreased circulating Ig... OMIM:612301
Immunodeficiency 92
Persistent CMV viremia, Pneumonia, Decreased circulating IgG level, Partial absence of specific a... OMIM:619652
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Decreased circula... OMIM:301081
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Cerebellar atrophy, Tremor, Elevated circulating creatine kinase concentration, ... OMIM:208920
Blue Diaper Syndrome
Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Dia... ORPHA:94086
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul... ORPHA:93126
Gapo Syndrome
Abnormal cerebral vascular morphology, Atherosclerosis, Hypogonadism, Dysmenorrhea, Nephrolithias... ORPHA:2067
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Pulmonary carcinoid tumor, Aortic root aneurysm, ... ORPHA:363618
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Mitral regurgitation, Neutropenia, Recurrent low... OMIM:612541
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Macroglossia, Hypoplasia ... ORPHA:1798
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac... OMIM:300835
Citrullinemia, Type Ii, Neonatal-Onset
Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula... OMIM:605814
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Dentinogenesis imperfecta, Mic... OMIM:616294
Combined Oxidative Phosphorylation Deficiency 54
Seizure, Lower limb muscle weakness, Generalized-onset seizure, Hyperglycemia, Secondary microcep... OMIM:619737
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Pneumocystis jirovecii pneumonia, Decreased circulating IgG level, H... OMIM:301078
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Conjunctivitis, Leukocytosis, Otitis media, Skin ras... ORPHA:3392
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Acne, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin... ORPHA:90795
Yellow Fever
Diarrhea, Pancreatic hyperplasia, Hyperbilirubinemia, Arthralgia, Elevated circulating alanine am... ORPHA:99829
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Polyphagia, Hypervalin... OMIM:620085
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome, Hypoalbuminemia OMIM:614652
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Atherosclerosis OMIM:610842
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperparathyroidism, Hyperostosis, Taurodontia, Pulp calcification, Enamel hypoplasia, Subperiost... OMIM:211900
Amelogenesis Imperfecta, Type Iv
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Tubulointerstitial Nephritis And Uveitis Syndrome
Red eye, Retinal vasculitis, Scleritis, Increased circulating antibody level, Weight loss, Tubulo... ORPHA:91500
Premature Ovarian Failure 1
Increased circulating gonadotropin level OMIM:311360
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Vomiting, Failure to thrive, Polysplenia, Hypoglycem... OMIM:619418
Metatropic Dysplasia
Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Camptodactyly of finger, ... ORPHA:2635
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Downturned corners of mouth, Long philtrum, Micrognathia, Delayed patellar ossification, Abnormal... ORPHA:163649
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level OMIM:103900
Proteasome-Associated Autoinflammatory Syndrome 1
Recurrent otitis media, Chronic constipation, Arrhythmia, Arthralgia, Erythema nodosum, Hepatomeg... OMIM:256040
Interstitial Lung And Liver Disease
Aminoaciduria, Elevated gamma-glutamyltransferase level, Hepatic failure, Hepatic fibrosis, Vomit... OMIM:615486
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Elevated urinary prostaglandin E2 level, Seborrheic dermatitis, Acne, Periosteal thickening of lo... OMIM:167100
Steinert Myotonic Dystrophy
Diarrhea, Oral-pharyngeal dysphagia, Hyperinsulinemia, Decreased fertility, Obsessive-compulsive ... ORPHA:273
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... OMIM:233710
Autosomal Recessive Primary Microcephaly
Thin upper lip vermilion, Abnormal cortical bone morphology ORPHA:2512
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Ventricular escape rhythm, Increased LDL choleste... ORPHA:98855
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig... OMIM:618348
Autoimmune Hepatitis
Inflammation of the large intestine, Gastrointestinal hemorrhage, Spider hemangioma, Splenomegaly... ORPHA:2137
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Wagro Syndrome
Hypoplastic female external genitalia, Decreased testicular size, Nephroblastoma, Polyphagia, Agg... OMIM:612469
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Recurrent singultus, Chest pain, Macu... ORPHA:319218
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Cerebellar atrophy, Failure to thrive, Exocrine pancreatic insufficiency, Postn... OMIM:616263
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Dysplastic corpus callosum, Perimembranous ventricular... OMIM:620135
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatic failure, Hypotension, Hepatitis, Cardiomyopathy, Cholestasis, Hyperammon... ORPHA:292
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Insulin-resistant diabetes melli... ORPHA:2457
Liddle Syndrome 1
Hypokalemia, Decreased circulating renin level OMIM:177200
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal ... OMIM:619468
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Carnitine Palmitoyltransferase Ii Deficiency
Myoglobinuria, Arrhythmia, Reduced tissue carnitine O-palmitoyltransferase 2 activity, Hepatomega... ORPHA:157
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Vomiting, Diarrhea, Failure to thrive, Hypocholesterolemia,... OMIM:246700
Subacute Inflammatory Demyelinating Polyneuropathy
Limited elbow flexion, Limited hip movement, Limitation of movement at ankles, Leukocytosis, Seve... ORPHA:206594
46,Xy Sex Reversal 4
Gonadal dysgenesis, Recurrent otitis media, Elevated circulating creatinine concentration, Hypopl... OMIM:154230
Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ventricular escape r... ORPHA:98853
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Cortical thickening of long b... ORPHA:1310
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Wolfram Syndrome 2
Optic atrophy, Neurogenic bladder, Optic neuropathy, Decreased circulating antibody level, Impair... OMIM:604928
Premature Ovarian Failure 2A
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:300511
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Immunodeficiency 48
Pneumonia, Pneumocystis carinii pneumonia, Eczematoid dermatitis, Recurrent candida infections, P... OMIM:269840
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Hepatic fibrosis, Gastrointestinal hemorrhage, Portal hypertension, Dystonia, Retinal telangiectasia OMIM:617341
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Hy... ORPHA:567546
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Failure to thrive, Cholestasis, Increased ... OMIM:619377
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Glomerulom... ORPHA:2260
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Bifid uvula, Coarse metaphyseal trabecularization, Delayed eruption of teeth... ORPHA:2780
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Cryptorchidism, Aplasia of the ovary, Decreased serum estradiol, Alopecia, Sparse p... ORPHA:2232
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis, Bifid uvula, Long philtrum, Decreased response to growth hormone stimulati... OMIM:241410
Hutchinson-Gilford Progeria Syndrome
Premature coronary artery atherosclerosis, Congestive heart failure, Angina pectoris, Precocious ... OMIM:176670
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Recurrent upper respiratory tract infections, ... ORPHA:261534
Omenn Syndrome
Pneumonia, Severe B lymphocytopenia, Recurrent viral infections, Failure to thrive, Splenomegaly,... OMIM:603554
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... OMIM:233690
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Diarrhea, Dicarboxylic acidur... OMIM:255120
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated gamma-glutamyltransferase level, Recurrent hypoglycemia, Cholestasis, Hyperglycemia, Hep... OMIM:124000
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Decreased lymphocyte p... OMIM:600802
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia OMIM:616270
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hypertrop... ORPHA:156
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hematochezia, Secretory diarrhea, Elevated circulating thyroid-stimulating hormo... OMIM:618183
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Urinary bladder sphincter dysfunction, Cerebellar vermis atrophy, Head tremor, P... ORPHA:64753
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small scrotum, Cholestasis, Slender build, Hepatic steatosis, Cirrhosis, Unconjugated hyperbiliru... OMIM:613658
Osteogenesis Imperfecta, Type Xi
Osteopenia, Dentinogenesis imperfecta, Increased susceptibility to fractures, Joint hypermobility... OMIM:610968
X-Linked Emery-Dreifuss Muscular Dystrophy
Atrioventricular block, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Increased LDL cho... ORPHA:98863
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Polyphagia, Calcinosis,... ORPHA:79443
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Hypoglycemia, Cerebral atrophy, Hypertrophic cardiomyopathy, Neu... ORPHA:391428
Androgen Insensitivity Syndrome
Sparse pubic hair, Elevated circulating luteinizing hormone level, Sparse axillary hair, Elevated... OMIM:300068
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm... ORPHA:79444
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Small for gestational age, Elevated circulating thyroid-... OMIM:274300
Rat-Bite Fever
Diarrhea, Lymphadenitis, Morbilliform rash, Pustule, Arthralgia, Oligoarthritis, Weight loss, Ery... ORPHA:31205
Erythrokeratodermia Variabilis
Neoplasm of the skin, Diabetes mellitus, Skin rash, Abnormal testis morphology ORPHA:317
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Recurrent viral infections, Eczematoid dermatitis, Pyoderma, Reduced delayed... OMIM:242700
Braddock-Carey Syndrome 1
Thick vermilion border, Enamel hypoplasia, Everted lower lip vermilion, Thrombocytopenia, Curly h... OMIM:619980
Farber Disease
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:333
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Tall stature, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid art... ORPHA:91387
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Absence of subcutaneous fat, Reduced subcutaneous adipose t... ORPHA:90159
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Sheehan Syndrome
Central adrenal insufficiency, Arthralgia, Decreased serum estradiol, Obesity, Palpitations, Decr... ORPHA:91355
Hypotonia-Cystinuria Syndrome
Failure to thrive, Nephrolithiasis, Polyphagia, Cystinuria, Fatigue ORPHA:163690
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Carious teeth, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate ... OMIM:612714
Insulin-Like Growth Factor I Deficiency
Micrognathia, Osteopenia, Decreased serum insulin-like growth factor 1, Elevated circulating grow... OMIM:608747
Wiskott-Aldrich Syndrome
Nephropathy, Inflammation of the large intestine, Recurrent otitis media, Abnormal delayed hypers... OMIM:301000
Congenital Disorder Of Deglycosylation 1
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Dilation of Virchow-Ro... OMIM:615273
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Decreased testicular size ORPHA:399805
Chromosome Xq27.3-Q28 Duplication Syndrome
Sparse body hair, Decreased serum testosterone concentration, Decreased testicular size, Hypogona... OMIM:300869
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Chronic myelomonocytic leukemia, Malar ... ORPHA:90280
Lissencephaly Due To Tuba1A Mutation
Dysgenesis of the basal ganglia, Polymicrogyria, Infantile spasms, Hypoplasia of the corpus callo... ORPHA:171680
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H... OMIM:615415
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Pulmonary fibrosis, Ri... ORPHA:254361
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Hermansky-Pudlak Syndrome 5
Epistaxis, Ocular albinism, Impaired ADP-induced platelet aggregation, Hypoplasia of the fovea, T... OMIM:614074
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Fatigue, Hypercholesterolemia, Hypoproteinemia, Small f... ORPHA:86816
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Mitral valve prolapse, Media... OMIM:177850
Glycosylphosphatidylinositol Biosynthesis Defect 17
Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye... OMIM:618010
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Epistaxis, Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired coll... OMIM:153670
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:618723
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Dental crowding, Misalignment of incisors, Joint stiffness, Bicoronal synostosis, Thick vermilion... OMIM:619184
Hyperlipoproteinemia, Type Id
Premature coronary artery atherosclerosis, Failure to thrive, Increased circulating chylomicron c... OMIM:615947
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles... OMIM:243300
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... ORPHA:1304
Quebec Platelet Disorder
Epistaxis, Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Complement Factor B Deficiency
Pneumonia, Decreased circulating complement factor B concentration, Recurrent meningococcal disea... OMIM:615561
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tract infections, Atherosclerosi... ORPHA:93598
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Stage 5 chronic kidney ... OMIM:617729
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:619938
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Carious teeth, Yellow nails, Sparse lateral eyebrow, Nail dystrophy, Conical incisor, O... OMIM:614564
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Neoplasm, Sple... ORPHA:169090
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin... OMIM:242150
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Inflammatory abnormality of the skin, Granuloma, Atrophic s... ORPHA:542592
Hermansky-Pudlak Syndrome 6
Epistaxis, Recurrent upper respiratory tract infections, Ocular albinism, Recurrent urinary tract... OMIM:614075
Lead Poisoning
Decreased male libido, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentration, ... ORPHA:330015
Congenital Syphilis
Pneumonia, Diarrhea, Keratitis, Hypoglycemia, Hepatosplenomegaly, Synovitis, Pancreatitis, Myocar... ORPHA:499009
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Recurrent upper respiratory tract infections, ... ORPHA:99330
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Glucose intolerance, Polycystic ovar... OMIM:615363
Xfe Progeroid Syndrome
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Rena... OMIM:610965
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Failure to thrive, Increased circulating IgE level, Leukocytosis, Pancolitis,... OMIM:618213
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:616185
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Isolated Agammaglobulinemia
Pneumonia, Cellulitis, Sepsis, Abnormality of neutrophils, Abnormal lymphocyte morphology, Otitis... ORPHA:229717
X-Linked Hypophosphatemia
Limitation of joint mobility, Rickets, Abnormal dentin morphology, Generalized osteosclerosis, To... ORPHA:89936
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Hurthle cell thyroid adenoma, Parathyroid carcinoma, Pancreatic adenocarcino... OMIM:145001
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Recurrent sinusit... OMIM:613101
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta, Increased susceptibility to fractures, Bowing of limbs due to multiple... OMIM:166220
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... ORPHA:85188
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Hypogonadism, External genital hypoplasia, Obesity, Bicuspid aortic valve... OMIM:615981
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Recurrent bronchitis, Abnormal ... OMIM:208900
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Joint hypermobility, Subperio... OMIM:114000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Cerebral cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disinteg... OMIM:174000
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Seizure, Atelectasis, Hypoplasia of the corpus callosum, Agenesis of corpus callo... OMIM:619466
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Chronic sinusitis, Otitis media, Rod-cone dystrophy, Recurrent Haemophilus ... OMIM:300455
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Hypoplasia of the maxilla, Cleft upper lip, Bilat... OMIM:305400
Sitosterolemia 1
Stomatocytosis, Giant platelets, Impaired platelet aggregation, Reticulocytosis, Splenomegaly, Ep... OMIM:210250
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Arrhythmia, Reduced tissue carnitine O-p... ORPHA:228308
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Niemann-Pick Disease, Type C2
CNS foam cells, Splenomegaly, Foam cells, Hepatomegaly, Motor stereotypy, Low cholesterol esterif... OMIM:607625
Noonan Syndrome
Osteopenia, Juvenile myelomonocytic leukemia, Abnormal EKG, Hypertrophic cardiomyopathy, Abnormal... ORPHA:648
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Angina pectoris, Increased HDL cholesterol concentration, Premature coronary artery atheroscleros... ORPHA:140905
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Nephrocalcinosis, Abnormality of the urinary system, Restrictive cardiomyopat... ORPHA:369837
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt... OMIM:233650
Fibrous Dysplasia Of Bone
Increased circulating cortisol level, Osteomalacia, Abnormality of the sphenoid sinus, Ovarian cy... ORPHA:249
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Fine hair, Tooth agenesis, Ab... ORPHA:1028
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:620103
14Q11.2 Microduplication Syndrome
Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggressive behavior ORPHA:261229
Scarf Syndrome
Long philtrum, Cryptorchidism, Joint hypermobility, Low posterior hairline, Hypoplastic nipples, ... ORPHA:3134
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Sepsis, Eczematoid dermatitis, Failure to thr... OMIM:256500
Macrophage Activation Syndrome
Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased ... ORPHA:158061
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Transient ischemic atta... OMIM:274150
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis OMIM:620374
Hypogonadism-Cataract Syndrome
Hypogonadism, Male hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Glycerol Kinase Deficiency
Vomiting, Increased urinary glycerol, Hypoglycemia, Adrenal insufficiency, Myalgia, Chronic pancr... OMIM:307030
Sickle Cell Anemia
Hypochromic anemia, Persistence of hemoglobin F, Microcytic anemia, Abnormality of the spleen, Un... ORPHA:232
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:267700
Refractory Anemia With Excess Blasts
Palpitations, Abnormal circulating albumin concentration, Fatigue, Abnormal circulating protein c... ORPHA:86839
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Hyperlipidemia, Splenomegaly, Biliary tract abn... ORPHA:1414
Luscan-Lumish Syndrome
Irregular menstruation, Recurrent otitis media, Polycystic ovaries, Polyphagia, Aggressive behavior OMIM:616831
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Hypothyroidism, Elevat... OMIM:612885
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure... ORPHA:89938
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia, Failure to thrive, Multiple muscular ventricular septal defects, ... OMIM:615508
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Diarrhea, Gastroesophageal reflux, Vomiting, Elevated circulating creatinine concentration, Const... OMIM:223900
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Failure to thrive, Increased circulating IgE level, Decreased F... OMIM:304790
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Diarrhea, Restrictive cardiomyopathy, Increased circulating ferritin concentration, Endocardial f... OMIM:619313
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Cholestasis, Hypopituitarism, Xanthelasma, Elevated cir... ORPHA:30391
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Hematochezia, Diarrhea, Abnormal circulating protein concentration, Weight loss,... ORPHA:103910
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Joint hemorrhage, Impaired platelet aggregation OMIM:605735
Alagille Syndrome 1
Cholestasis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Duplicated collecting sy... OMIM:118450
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Intestinal bleeding, Vomiting, Abdominal colic, Right ventricular failure, Secon... ORPHA:90363
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Sparse pubic hair, Hypo... ORPHA:3044
Dysosteosclerosis
Osteopenia, Natal tooth, Absent paranasal sinuses, Delayed eruption of teeth, Sclerosis of hand b... OMIM:224300
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Impaired platelet aggregation, Joi... OMIM:193400
Refractory Celiac Disease
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormalit... ORPHA:398063
Narcolepsy 3
Narcolepsy OMIM:609039
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... ORPHA:251937
Acute Interstitial Pneumonia
Chest pain, Elevated circulating creatinine concentration, Myalgia, Pericardial effusion, Arthral... ORPHA:79126
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
High palate, Enamel hypoplasia, Retrognathia OMIM:617915
Cranio-Osteoarthropathy
Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthritis ORPHA:1525
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Congestive heart failure, Hypertrophic cardiomyopathy, Heparan sulfate excretion... ORPHA:505248
Premature Ovarian Failure 22
Elevated circulating follicle stimulating hormone level, Decreased cirrculating antimullerian hor... OMIM:620548
Bronchopulmonary Dysplasia
Right ventricular failure, Atelectasis, Emphysema, Abnormal lung morphology, Tracheobronchomalaci... ORPHA:70589
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder, Bilateral cryptorchidism ORPHA:1715
Cardiogenic Shock
Impaired myocardial contractility, Hypotension, Oliguria, Right ventricular failure, Abnormal lef... ORPHA:97292
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Failure to thrive, Splenomegaly, Increased circulatin... OMIM:170100
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... OMIM:619484
Hereditary Arterial And Articular Multiple Calcification Syndrome
Arterial occlusion, Abnormal vascular morphology, Arterial calcification, Arterial tortuosity, Ab... ORPHA:289601
Kawasaki Disease
Diarrhea, Arrhythmia, Arthralgia, Elevated circulating C-reactive protein concentration, Abdomina... ORPHA:2331
Aicardi-Goutieres Syndrome 6
Splenomegaly, Chilblains, Increased circulating Interferon-alpha concentration, Thrombocytopenia,... OMIM:615010
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Renal insuffi... ORPHA:890
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Polymicrogyria, Infantile spasms, Agenesis of corpus callosum, Dysplastic corpus callosu... ORPHA:250972
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Delayed epiphyseal ossification, Osteomalacia, H... ORPHA:1652
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Intellectual Developmental Disorder, Autosomal Dominant 39
Cerebral atrophy, Obesity, Self-mutilation, Polyphagia, Aggressive behavior OMIM:616521
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Elevated... OMIM:615688
Chromosome Xq26.3 Duplication Syndrome
Ventricular hypertrophy, Pituitary adenoma, Increased circulating prolactin concentration, Hypopi... OMIM:300942
Johanson-Blizzard Syndrome
Elevated gamma-glutamyltransferase level, Clitoral hypertrophy, Cryptorchidism, Ventricular septa... OMIM:243800
Shwachman-Diamond Syndrome
Recurrent viral infections, Aplastic anemia, Hypopituitarism, Pancytopenia, Increased serum bile ... ORPHA:811
Lethal Congenital Contracture Syndrome Type 1
Micrognathia, Abnormal cortical bone morphology, Limitation of joint mobility, Recurrent fractures ORPHA:1486
Angiostrongyliasis
Unusual CNS infection, Stiff neck, Hypereosinophilia, Increased circulating specific IgE antibody... ORPHA:74
Osteogenesis Imperfecta, Type X
Osteopenia, Dentinogenesis imperfecta, Recurrent pneumonia, Micrognathia, Malar flattening, Joint... OMIM:613848
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... OMIM:617056
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circulating inter... ORPHA:391487
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Anterior pituitary agenesis, Osteopenia, Ectopic anterior pituitary ... ORPHA:95494
X-Linked Agammaglobulinemia
Cellulitis, Recurrent pneumonia, Sepsis, Hepatitis, Conjunctivitis, Osteomyelitis, Neoplasm, Skin... ORPHA:47
Camurati-Engelmann Disease
Mandibular prognathia, Carious teeth, Sclerosis of skull base, Cortical thickening of long bone d... OMIM:131300
Immunodeficiency 87 And Autoimmunity
Elevated gamma-glutamyltransferase level, Cholestasis, Biventricular hypertrophy, Hepatic steatos... OMIM:619573
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Alopecia universalis, Male hypogonadism, Cholelithiasis, Type I diabetes mellitus, Alopecia, Chro... OMIM:240300
Hermansky-Pudlak Syndrome 7
Epistaxis, Impaired platelet aggregation, Prolonged bleeding time, Ocular albinism OMIM:614076
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Aggressive behavior, Hyperactivity, Compulsive behaviors, Macroorchidism, Flexion contracture OMIM:309520
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Hypoalbuminemia, Failure to thrive, Hypoglycemia, Elevated circulating creatine ki... OMIM:619055
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Obesity, Type II diabetes mellitus, Biliary tract abnor... ORPHA:3191
Osteopetrosis, Autosomal Recessive 8
Anemia, Osteopetrosis, Splenomegaly, Thrombocytopenia OMIM:615085
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Decreased circulating renin level OMIM:614492
Odontochondrodysplasia
Dentinogenesis imperfecta, Retrognathia, Delayed eruption of teeth, Joint hypermobility ORPHA:166272
Ectodermal Dysplasia-Syndactyly Syndrome 1
Alopecia, Coarse hair, Conical tooth, Widely spaced teeth, Sparse eyelashes, Patchy alopecia, Pil... OMIM:613573
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Tremor, Aggressive behavior, Episodic vo... OMIM:612736
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... OMIM:616878
Angelman Syndrome
Self-injurious behavior, Cerebral cortical atrophy, Precocious puberty in females, Gastroesophage... ORPHA:72
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes mellit... ORPHA:3085
Premature Ovarian Failure 15
Elevated circulating follicle stimulating hormone level, Decreased cirrculating antimullerian hor... OMIM:618096
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Macroglossia, Hypopituitarism, Decreased circulating T4 concentratio... ORPHA:226307
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, Hy... ORPHA:656
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Hepatic fibrosis, Renal insufficiency, Proteinuria, Renal cyst... OMIM:208500
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Hypotension, Pathologic fracture, Hepatosplenomegaly, Panc... ORPHA:98850
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Dilated cardiomyopathy, Congestive heart fai... ORPHA:73224
Bardet-Biedl Syndrome 20
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Bilateral cryptorchid... OMIM:619471
Paget Disease Of Bone 6
Nephrocalcinosis, Elevated circulating alkaline phosphatase concentration, Coronary artery athero... OMIM:616833
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Osteopenia, Type I diabetes mellitus, Dentinogenesis imperfecta, Periodontiti... OMIM:619269
Pituitary Apoplexy
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:95613
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Arteriovenous malformation, Failure to thrive, Tetralogy of Fallot, ... ORPHA:974
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Cerebellar atrophy, Obesity, Hypercholesterolemia, Atrophy/Degeneration affectin... OMIM:616267
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Micrognathia, Osteopetrosis OMIM:617306
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:612964
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia ORPHA:3196
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Incr... OMIM:603553
Celiac Disease, Susceptibility To, 1
Alopecia, Type I diabetes mellitus, Rickets, Recurrent aphthous stomatitis, Macrocytic anemia, Ir... OMIM:212750
Prolactin Deficiency, Isolated
Reduced circulating prolactin concentration OMIM:264110
Bile Acid Malabsorption, Primary, 2
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Decreased circulating chenodeoxych... OMIM:619481
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Argininosuccinic Aciduria
Aminoaciduria, Hepatic fibrosis, Vomiting, Failure to thrive, Oroticaciduria, Elevated circulatin... OMIM:207900
Multiple Myeloma
Nephropathy, Osteopenia, Nephrotic syndrome, Acute kidney injury, Pathologic fracture, Tall statu... ORPHA:29073
Arteriosclerosis, Severe Juvenile
Chronic kidney disease, Central retinal vessel vascular tortuosity, Calcification of the aorta, D... OMIM:208060
Gitelman Syndrome
Diarrhea, Type II diabetes mellitus, Arthralgia, Parathyroid adenoma, Urinary incontinence, Abdom... ORPHA:358
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Osteogenesis Imperfecta, Type I
Osteopenia, Dentinogenesis imperfecta, Increased susceptibility to fractures, Joint hypermobility... OMIM:166200
Sanjad-Sakati Syndrome
Patchy osteosclerosis, Abnormality of the dentition, Long philtrum, Abnormal dental enamel morpho... ORPHA:2323
Cerebrotendinous Xanthomatosis
Cholelithiasis, Global brain atrophy, Premature coronary artery atherosclerosis, Resting tremor, ... ORPHA:909
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Erysipelas, Intestinal lymphangiectasia, Horseshoe kidney, Vesicoureteral reflux... OMIM:235510
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Delayed ... OMIM:300554
Alg9-Cdg
Diarrhea, Ventricular septal defect, Atrial septal defect, Torticollis, Hepatomegaly, Gastroesoph... ORPHA:79328
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Gastroesophageal reflux, Decreased liver function, Cerebral atrophy, Exocrine pan... OMIM:618268
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Inappropriate laughter, Disinhibition, Polyphagia, Neuronal loss i... OMIM:600274
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Good Syndrome
Thymoma, Mediastinal lymphadenopathy, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract i... ORPHA:169105
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Limited elbow flexion, Limi... ORPHA:79106
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Tricuspid regurgitation, Retinal arterial tortuosity, Splenic cyst... OMIM:620371
Papa Syndrome
Limitation of joint mobility, Crohn's disease, Increased inflammatory response, Pustule, Myositis... ORPHA:69126
Chediak-Higashi Syndrome
Periodontitis, Hemophagocytosis, Ocular albinism, Leukopenia, Giant neutrophil granules, Splenome... OMIM:214500
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea, Acne OMIM:604931
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Stage 5 c... OMIM:614196
Reticular Dysgenesis
Sepsis, Abnormality of neutrophils, Aplasia/Hypoplasia of the thymus, Leukopenia, Skin rash, Anem... ORPHA:33355
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... ORPHA:99832
Seckel Syndrome 5
Retrognathia, Selective tooth agenesis, Micrognathia, Cryptorchidism, Oligodontia, Hypodontia, En... OMIM:613823
Pemphigus Erythematosus
Antinuclear antibody positivity, Autoimmunity, Anti-acetylcholine receptor antibody positivity, S... ORPHA:79480
Tempi Syndrome
Polycythemia, Increased hematocrit, Telangiectasia, Abnormality of the kidney, Increased circulat... ORPHA:284227
Autosomal Agammaglobulinemia
Cellulitis, Sepsis, Bronchiectasis, Hepatitis, Recurrent respiratory infections, Verrucae, Osteom... ORPHA:33110
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Raine Syndrome
Highly arched eyebrow, Mandibular prognathia, Natal tooth, Micrognathia, Narrow mouth, Protruding... OMIM:259775
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Renal hypoplasia, Elevated circulating hepatic transaminase c... OMIM:620005
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Decreased circulating antibody l... OMIM:613011
Hyper-Igd Syndrome
Neutrophilia, Lymphadenitis, Molluscum contagiosum, Hepatosplenomegaly, Leukocytosis, Skin rash, ... OMIM:260920
Congenital Disorder Of Glycosylation, Type Iil
Retrognathia, Pancytopenia, Splenomegaly, Hypohidrosis, Enamel hypoplasia, Thrombocytopenia, Recu... OMIM:614576
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... OMIM:612925
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Dysphagia, Prolonged bleeding time, Pulmonic stenosis ORPHA:638
Autoimmune Pulmonary Alveolar Proteinosis
Increased circulating lactate dehydrogenase concentration, Intraalveolar phospholipid accumulatio... ORPHA:747
Hermansky-Pudlak Syndrome 11
Epistaxis, Ocular albinism, Reduced platelet dense granules, Hypoplasia of the fovea, Impaired co... OMIM:619172
Macrocephaly/Autism Syndrome
Recurrent otitis media, Lymphopenia, Obesity, Penile freckling, Large for gestational age, Spleno... OMIM:605309
Spermatogenic Failure 75
Elevated circulating follicle stimulating hormone level OMIM:619949
Whipple Disease
Insulin resistance, Gastrointestinal hemorrhage, Diarrhea, Uveitis, Polydipsia, Hypotension, Seiz... ORPHA:3452
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Obesity, Glu... OMIM:219090
Osteogenesis Imperfecta, Type Viii
Osteopenia, Dentinogenesis imperfecta, Decreased calvarial ossification, Decreased skull ossifica... OMIM:610915
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, L... ORPHA:45452
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Diarrhea, Anuria, Elevated circulating creatinine concentration, Hyperlipide... OMIM:235400
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato... OMIM:306400
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Recurrent pneumonia, Eczematoid dermatitis, Umbilical hernia, Recurrent otitis media, Cryptorchid... ORPHA:500159
Xq12-Q13.3 Duplication Syndrome
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Bulimia, Cryptorchidism, Ele... ORPHA:314389
Immunodeficiency 27B
Recurrent mycobacterial infections, Salmonella osteomyelitis, Recurrent mycobacterium avium compl... OMIM:615978
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Exercise intolerance, Elevated circulating hepatic transaminase concentration, Ventricular bigemi... OMIM:610131
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Microcytic anemia, Abn... ORPHA:90308
Retinal Dystrophy And Obesity
Obesity, Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Retinal detac... OMIM:616188
Sjogren-Larsson Syndrome
Abnormal hair morphology, Flexion contracture, Enamel hypoplasia OMIM:270200
Erythroderma, Lethal Congenital
Hypoalbuminemia, Congenital exfoliative erythroderma, Failure to thrive OMIM:227090
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... OMIM:120330
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio... ORPHA:1454
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia OMIM:314000
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Chest pain, Pulmonary venous hypertension, Hematur... ORPHA:90060
Joubert Syndrome 9
Hepatic fibrosis, Stage 5 chronic kidney disease OMIM:612285
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:615724
Osteogenesis Imperfecta, Type Xviii
Abnormality of the dentition, Long eyelashes, Micrognathia, Joint hypermobility, Thin bony cortex... OMIM:617952
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... OMIM:617394
Immunodeficiency 9
Decreased circulating IgG level, Failure to thrive, BCGitis, Lymphopenia, Recurrent aphthous stom... OMIM:612782
Hereditary Chronic Pancreatitis
Abnormal circulating enzyme concentration or activity, Pancreatic calcification, Abdominal pain, ... ORPHA:676
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Arima Syndrome
Hepatic fibrosis, Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Hepatic steatosis... OMIM:243910
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level OMIM:616946
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Anoperineal fistula, Pustular rash, Recurrent otitis media, Foll... OMIM:619381
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Enamel hypoplasia, Nail dystrophy OMIM:226700
Hepatic Lipase Deficiency
Angina pectoris, Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Trisomy 20P
Camptodactyly of finger, Umbilical hernia, Inguinal hernia, Cryptorchidism, Hernia, Macroorchidis... ORPHA:261318
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Elevated circulating creatinine concentration, Rena... OMIM:617478
Andersen Cardiodysrhythmic Periodic Paralysis
Hypoplasia of the maxilla, Dental crowding, Persistence of primary teeth, Micrognathia, Malar fla... OMIM:170390
Mixed Connective Tissue Disease
Xerostomia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Myositis, Arthritis, Hemolytic ... ORPHA:809
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Central nervous system degeneration, Mic... ORPHA:98907
Branchioskeletogenital Syndrome
Highly arched eyebrow, Hypoplasia of the maxilla, Carious teeth, Absent nipple, Downturned corner... ORPHA:1299
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Renal hypoplasia, Hypogonadism, External genital hypoplasia, Obesity, Ren... OMIM:615996
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:619203
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612926
Pachydermoperiostosis
Limitation of joint mobility, Osteomyelitis, Abnormal cortical bone morphology, Splenomegaly, Abn... ORPHA:2796
48,Xxyy Syndrome
Gastroesophageal reflux, Decreased testicular size, Azoospermia, Tall stature, Type II diabetes m... ORPHA:10
C1Q Deficiency 2
Discoid lupus rash, Pneumocystis carinii pneumonia, Sepsis, Recurrent otitis media, Malar rash, C... OMIM:620321
Fabry Disease
Nephropathy, Mitral regurgitation, Hematuria, Arrhythmia, Arthralgia, Achalasia, Anorexia, Abdomi... ORPHA:324
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Hyperglycemia, Hyperlipidemia, Axonal degeneration, Mildly elevated creatine kinase,... OMIM:604484
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Gastroesophageal reflux, Hand tremor, Recurrent otitis media, Cryptorchidism, Increased body weig... ORPHA:589905
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Obesity, Motor stereotypy OMIM:613886
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Chylous Ascites
Pancreatitis ORPHA:1160
Melnick-Needles Syndrome
Tooth malposition, Craniofacial hyperostosis, Delayed eruption of teeth, Micrognathia, Abnormal c... ORPHA:2484
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Hypertension... OMIM:615830
Congenital Lethal Erythroderma
Hypoalbuminemia, Congenital exfoliative erythroderma, Failure to thrive ORPHA:1954
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Vomiting, Pancreatic adenocarcinoma, Epigastric... ORPHA:103918
Osteogenesis Imperfecta, Type Xvii
Dentinogenesis imperfecta, Joint hypermobility, Osteoporosis, Reduced bone mineral density, Recur... OMIM:616507
Cutis Laxa-Marfanoid Syndrome
Limitation of joint mobility, Abnormal heart valve morphology, Emphysema, Congenital diaphragmati... ORPHA:171719
Cenani-Lenz Syndactyly Syndrome
Micrognathia, Malar flattening, Radioulnar synostosis, Hypodontia, Enamel hypoplasia, Premature l... OMIM:212780
Cockayne Syndrome Type 2
Male hypogonadism, Widely spaced primary teeth, Hypoplasia of the primary teeth, Cryptorchidism, ... ORPHA:90322
Niemann-Pick Disease Type C
Aspiration pneumonia, Hepatosplenomegaly, Limb dystonia, Axial dystonia, Frontal cortical atrophy... ORPHA:646
Bloom Syndrome
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Facial telangiecta... OMIM:210900
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Peritoneal effusion, Hypomagnesemia, Intestinal lymphangiectasia, Hypocalcemia, ... ORPHA:90362
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczematoid dermatitis, Increased circulating IgE level, Postnatal growth retardation, Decreased s... OMIM:618985
Narcolepsy 1
Narcolepsy OMIM:161400
Majeed Syndrome
Osteomyelitis, Leukocytosis, Increased susceptibility to fractures, Splenomegaly, Synovitis, Cong... ORPHA:77297
Snakebite Envenomation
Epistaxis, Hypotension, Neuromuscular dysphagia, Vomiting, Diarrhea, Cardiogenic shock, Pseudobul... ORPHA:449285
Immunodeficiency 69
Hemophagocytosis, BCGitis, Increased circulating ferritin concentration, Hepatosplenomegaly, Panc... OMIM:618963
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Cryptorchidism, Chronic constipation, Ventricular septal defect, Polyphagi... ORPHA:96121
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Diarrhea, Gastroesophageal reflux, Seizure, Hypoglycemia, Constipation, Limb hyperto... ORPHA:35708
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis, Abnormality of the urinary system OMIM:213010
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Obesity, Inappropriate laughter, Hyperactivity ORPHA:411515
Nipah Virus Disease
Hypotension, Seizure, Myoclonus, Infectious encephalitis, Recurrent pharyngitis, Anorexia ORPHA:99825
Idiopathic Bronchiectasis
Myocardial infarction, Recurrent lower respiratory tract infections, Cachexia, Acute infectious p... ORPHA:60033
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Bruxism, Inappropriate laughter, Postnatal growth retardation, Recurrent... OMIM:156200
Heimler Syndrome 1
Leukonychia, Beau's lines, Enamel hypoplasia, Amelogenesis imperfecta OMIM:234580
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Calcium nephrolithiasis, Delayed epiphyseal ossification, Rickets, Failu... OMIM:241530
Trichothiodystrophy
High, narrow palate, Osteopenia, Carious teeth, Increased mean corpuscular hemoglobin concentrati... ORPHA:33364
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Postnatal growth retardatio... OMIM:248370
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... OMIM:602450
Sjogren Syndrome
Rheumatoid arthritis, Autoimmunity OMIM:270150
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Seizure, S... ORPHA:274
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl... OMIM:300291
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, External genital hypoplasia, Postnatal growth retardation, Cryptorchid... ORPHA:251028
Oculoskeletodental Syndrome
Abnormality of the dentition, Abnormality of the frontal hairline, Abnormal thalamus morphology, ... ORPHA:557003
Joubert Syndrome 10
Polyphagia, Recurrent infections, Frequent temper tantrums OMIM:300804
Osteopetrosis, Autosomal Recessive 3
Dental malocclusion, Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Oste... OMIM:259730
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level OMIM:218030
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612924
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Recur... OMIM:615577
Poems Syndrome
Polycythemia, Increased circulating prolactin concentration, Hypertrichosis, Hypogonadism, Sclero... ORPHA:2905
Staphylococcal Necrotizing Pneumonia
Pneumonia, Hypotension, Shock, Leukopenia, Leukocytosis, Pleural effusion, Addictive alcohol use,... ORPHA:36238
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary gonadal insuff... ORPHA:90796
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephro... OMIM:600740
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
19P13.12 Microdeletion Syndrome
Precocious puberty, Aortic regurgitation, Self-injurious behavior, Obesity, Hyperlipidemia, Crypt... ORPHA:254346
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:610725
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Seizure, Polymicrogyria, Situs inversus totalis, Agenesis of corpus callosum, Dysplastic corpus c... OMIM:614833
Microcephaly 26, Primary, Autosomal Dominant
Recurrent pneumonia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Pate... OMIM:619179
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Increased suscepti... ORPHA:98849
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Obesity ORPHA:171829
1P36 Deletion Syndrome
Abnormal female external genitalia morphology, Abnormality of the spleen, Cryptorchidism, Hepatic... ORPHA:1606
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Bardet-Biedl Syndrome 21
Retinal thinning, Horseshoe kidney, Hyperautofluorescent macular lesion, Obesity, Cone/cone-rod d... OMIM:617406
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Delayed eruption of teeth, Osteomalacia, R... ORPHA:289176
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:612310
Classic Mycosis Fungoides
Neoplasm of the skin, Eczematoid dermatitis, Lymphoma, Abnormal lymphocyte morphology, Skin rash,... ORPHA:2584
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Polydipsia, Failure to thrive, Stage 5 chronic kidney disease... OMIM:604387
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Acne, Increased circulating ... ORPHA:786
Stüve-Wiedemann Syndrome
Osteopenia, Abnormality of the dentition, Limitation of joint mobility, Smooth tongue, Camptodact... ORPHA:3206
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Type I diabetes mellitus, Eczematoid dermatitis, He... OMIM:615952
Pmm2-Cdg
Increased circulating prolactin concentration, Aspiration pneumonia, Hyperinsulinemia, Aplasia of... ORPHA:79318
Orofaciodigital Syndrome I
Hepatic fibrosis, Cerebral atrophy, Abnormal heart morphology, Hepatic cysts, Ovarian cyst, Prote... OMIM:311200
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Periportal fibrosis, Bicornuate uterus, Polycystic kidney dysplasia OMIM:263210
Cystinosis
Type I diabetes mellitus, Vomiting, Polydipsia, Rickets, Portal hypertension, Myopathy, Motor ste... ORPHA:213
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... ORPHA:1457
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Seizure, Dysplastic corpus callosum, Microcephaly, Flexion contracture, Dysphagia, Simplified gyr... OMIM:620001
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Hy... OMIM:123550
Cockayne Syndrome Type 1
Abnormality of the dentition, Male hypogonadism, Foot joint contracture, Widely spaced primary te... ORPHA:90321
Seckel Syndrome 1
Dental malocclusion, Dental crowding, Selective tooth agenesis, Elbow flexion contracture, Pancyt... OMIM:210600
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Even-Plus Syndrome
Atopic dermatitis, Patent foramen ovale, Agenesis of corpus callosum, Dysplastic corpus callosum,... OMIM:616854
Oculodentodigital Dysplasia
Broad alveolar ridges, Dry hair, Carious teeth, Fine hair, Selective tooth agenesis, Cleft upper ... OMIM:164200
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Splenomegaly, Pulmonary arterial hypertension, Pneumothorax, Erythem... OMIM:612387
Oculocerebrorenal Syndrome Of Lowe
Periodontitis, Cryptorchidism, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Moto... ORPHA:534
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Acne, Secondary amenorrhea, Premature pubarche OMIM:612847
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Exercise intolerance, Elevated circulating hepatic transaminase concentration, Increased circulat... OMIM:620138
Narcolepsy 7
Narcolepsy OMIM:614250
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:614376
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lymphopenia, Skin rash, Splenomegaly, Increased circulating antibody level, My... OMIM:617591
Cyclic Neutropenia
Cellulitis, Recurrent tonsillitis, Sepsis, Opportunistic infection, Periodontitis, Cervical lymph... ORPHA:2686
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Acute hepatic... OMIM:618641
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatic failure, Cholelithiasis, Decreased liver function, Abnormal circulating lipid concentrati... ORPHA:77293
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Cranial hyperostosis, Long philtrum, Hepatosplenomegaly, Pancytopen... OMIM:259720
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatic fibrosis, Acute kidney injury, Nephronophthisis, Failure to thrive, Cholestasis, Hepatosp... OMIM:266920
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies ORPHA:231154
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Telangiectasia of the skin, Thin bony cortex ORPHA:75508
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin, Absence of subcutaneous fat, Reduced subcutaneous adipose t... ORPHA:90160
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... ORPHA:905
Meckel Syndrome 14
Hepatic fibrosis, Tricuspid regurgitation, Mitral regurgitation, Aplasia of the uterus, Ambiguous... OMIM:619879
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Genital ulcers, Lymphopenia, Skin rash, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uve... OMIM:616744
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... ORPHA:91347
Protoporphyria, Erythropoietic, 1
Hepatic failure, Cholelithiasis, Eczematoid dermatitis, Hypertriglyceridemia OMIM:177000
12Q14 Microdeletion Syndrome
Downturned corners of mouth, Abnormality of the spleen, Thick eyebrow, Micrognathia, Hypodontia, ... ORPHA:94063
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ... ORPHA:2919
Classical-Like Ehlers-Danlos Syndrome Type 2
Periodontitis, Aortic root aneurysm, Prominent veins on trunk, Varicose veins, Cryptorchidism, Mi... ORPHA:536532
Snijders Blok-Campeau Syndrome
Widely spaced teeth, Joint hypermobility, Taurodontia, Enamel hypoplasia, High palate OMIM:618205
Allergic Bronchopulmonary Aspergillosis
Cerebral cortical atrophy, Abnormal eosinophil morphology, Emphysema, Pulmonary arterial hyperten... ORPHA:1164
Vici Syndrome
Optic atrophy, Decreased circulating IgG level, Abnormal macular morphology, Recurrent respirator... ORPHA:1493
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Osteopenia, Carious teeth, Recurrent fractures OMIM:126550
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Recurrent gram-neg... OMIM:116920
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cellulitis, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee ... OMIM:604416
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ... OMIM:617780
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Elevated circulating luteinizing hormone level, Decrease... OMIM:229070
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Precocious puberty, Recurrent infections, Recurrent respiratory infections, Recurrent otitis medi... OMIM:619950
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Sepsis, Abnormality of the hairline, Abnormal cortical bone morphology, Prominenc... OMIM:614886
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T... OMIM:614662
Renal Glucosuria
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria OMIM:233100
Scarf Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Long philtrum, Cryptorchidism, Low anterio... OMIM:312830
Fanconi Renotubular Syndrome 5
Glycosuria, Emphysema, Hypophosphatemic rickets, Lung adenocarcinoma, Pulmonary fibrosis, Hyperte... OMIM:618913
Tako-Tsubo Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Dilatation of the ventricular cavi... ORPHA:66529
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Hypoalbuminemia, Cerebellar atrophy, Postural tr... OMIM:254900
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... ORPHA:300385
Cushing Syndrome Due To Ectopic Acth Secretion
Diarrhea, Increased circulating cortisol level, Increased urinary cortisol level, Capillary fragi... ORPHA:99889
Proprotein Convertase 1/3 Deficiency
Diarrhea, Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogona... OMIM:600955
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Abnormal T-wave, Decreased serum ... OMIM:241080
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Head-banging, Seizure, Focal polymicrogyria, Frequent temper tantrums, Ventricular septal defect,... OMIM:619103
Lujo Hemorrhagic Fever
Diarrhea, Lymphopenia, Cerebral edema, Dysphagia, Shock, Bradycardia, Hypotension, Vomiting, Atel... ORPHA:319213
Hermansky-Pudlak Syndrome 8
Epistaxis, Ocular albinism, Hypoplasia of the fovea, Impaired platelet aggregation, Optic disc pa... OMIM:614077
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Cholelithiasis, Recurrent tonsillitis, Atopic dermatitis, Abnormal circulating... ORPHA:171876
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
48,Xxxy Syndrome
Small scrotum, Gastroesophageal reflux, Pulmonary embolism, Chronic otitis media, Hypogonadism, D... ORPHA:96263
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia, Elevated circulating luteinizing hormone level, Decreased circulating dehydroe... OMIM:250790
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Enamel hypoplasia OMIM:618874
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Abnormal T-wave, Hypogonadism, De... ORPHA:3464
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Erysipelas, Hyperlipidemia, Splenomegaly... OMIM:214900
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Hemophagocytosis, Fasciitis, Acute hepatitis, He... ORPHA:39812
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Decreased testicular size ORPHA:399808
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Immunodeficiency 31C
Bronchiectasis, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Decreased ly... OMIM:614162
Cleidocranial Dysplasia 1
High, narrow palate, Narrow palate, Absent paranasal sinuses, Micrognathia, Delayed pubic bone os... OMIM:119600
Man1B1-Cdg
Polyphagia, Resting tremor, Truncal obesity ORPHA:397941
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Seizure, Hypoglycem... OMIM:212138
Lenz-Majewski Hyperostotic Dwarfism
High, narrow palate, Bifid uvula, Mandibular prognathia, Limitation of joint mobility, Cranial hy... ORPHA:2658
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebral atrophy, Seizure, Small basal ganglia, Abnormal periventricular white matter morphology,... OMIM:616900
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... ORPHA:93284
Nephrotic Syndrome, Type 8
Chronic kidney disease, Hypoalbuminemia, Thin glomerular basement membrane, Stage 5 chronic kidne... OMIM:615244
Necrotizing Enterocolitis
Hypotension, Vomiting, Diarrhea, Abnormal heart morphology, Shock, Hyperglycemia, Leukocytosis, B... ORPHA:391673
Dyskeratosis Congenita, Autosomal Dominant 2
Hepatic fibrosis, Dilated cardiomyopathy, Failure to thrive, Urethral stricture, Chronic diarrhea OMIM:613989
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Tric... OMIM:619127
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Limitation of joint mobility, Narrow mouth, Crypt... ORPHA:95699
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat... OMIM:618935
Lenz-Majewski Hyperostotic Dwarfism
Abnormality of the dentition, Microglossia, Elbow flexion contracture, Micrognathia, Humeroradial... OMIM:151050
Helsmoortel-Van Der Aa Syndrome
Mitral regurgitation, Cryptorchidism, Mitral valve prolapse, Polyphagia, Atrial septal defect, Mo... OMIM:615873
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Increased circulating prolactin concentration, Hyperglycemia, Polyphagia, A... ORPHA:293987
Cystic Fibrosis
Cor pulmonale, Recurrent pneumonia, Biliary cirrhosis, Diarrhea, Bronchiectasis, Failure to thriv... OMIM:219700
Proteus Syndrome
Rib exostoses, Exostosis of the external auditory canal, Visceral angiomatosis, Neoplasm of the c... ORPHA:744
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Vasculitis, Failure to thrive in infancy, Leukocytosis, Skin rash, Increased proportion of CD4-po... OMIM:617099
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Gastroesophageal reflux, Rickets, Osteomalacia, Joint stiffness, Esophagitis, Joint h... ORPHA:1901
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Type I diabetes mellitus, Emphysema, Lymphopenia, Portal hypertension, Thrombocytopen... OMIM:620365
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyebrow, Carious teeth, Nail dystrophy, Sparse eyelashes, Scarring alopecia of s... OMIM:612843
Igg4-Related Pachymeningitis
Nephritis, Lymphadenitis, Parotitis, Neck pain, Pain, Low back pain, Pancreatitis, Sinusitis, Ele... ORPHA:449427
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Hematochezia, Intestinal bleeding, Gastrointestinal hemorrhage, Melena, Diarrhea... ORPHA:79076
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Abdominal... OMIM:167800
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Ankylosis, Osteoporosis, Recurrent fractures, Prematu... OMIM:239000
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Vomiting, Diarrhea, Rickets, Myoclonus, Osteoporosis OMIM:560000
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Den Hoed-De Boer-Voisin Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Widely spaced ... OMIM:619229
Q Fever
Hepatosplenomegaly, Increased circulating antibody level, Hematuria, Weight loss, Meningitis, End... ORPHA:781
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Arrhythmia, Systolic heart murmur, Right ventricular failure, Tricuspid reg... ORPHA:99103
Cushing Disease
Increased circulating cortisol level, Increased urinary cortisol level, Capillary fragility, Adre... ORPHA:96253
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormal te... ORPHA:2072
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Enamel hypoplas... OMIM:243150
Sotos Syndrome
Gastroesophageal reflux, Muscular ventricular septal defect, Tall stature, Glucose intolerance, C... OMIM:117550
46,Xy Partial Gonadal Dysgenesis
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Ovarian gonadoblastoma... ORPHA:251510
Cerebrofacioarticular Syndrome
Self-injurious behavior, Osteopenia, Tracheomalacia, Abnormal heart morphology, Hypoplasia of the... ORPHA:314679
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Hypodontia, Enamel hypoplasia, Nail dystrophy OMIM:616029
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Pituitary Gigantism
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... ORPHA:99725
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Narrow mouth, Nail dystrophy, Oral mucosal blisters, Enamel hypoplasia, Anemia, Flexion... OMIM:226600
Panbronchiolitis, Diffuse
Bronchiectasis, Foam cells OMIM:604809
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... OMIM:207750
Chromosome 5Q12 Deletion Syndrome
Hypotension, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Patent foram... OMIM:615668
Sickle Cell Disease
Splenic infarction, Increased red cell sickling tendency, Hemolytic anemia, Renal insufficiency, ... OMIM:603903
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Myopathy, Pulmonary edema, Ventricular fibrillation, Increased myocard... OMIM:261740
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... ORPHA:79233
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pr... OMIM:112250
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Increased circulating gonadotropin level, Abno... ORPHA:755
Xp21 Deletion Syndrome
Recurrent otitis media, Adrenal insufficiency, Primary adrenal insufficiency, Elevated circulatin... ORPHA:261476
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphoma, Neoplasm, Skin rash, Splenomegaly, Lymphadenopathy, Anorex... ORPHA:391
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Lateral ventricle dilatation, Seizure, Hypoplasia of the corpus callos... ORPHA:488627
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Malar rash, Skin rash, Increase... ORPHA:2909
Tangier Disease
Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Left ventricular hypertrophy, ... ORPHA:31150
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Coronary artery atherosclerosis, Attention deficit hyperactivity disor... ORPHA:435638
Bronchial Neuroendocrine Tumor
Pneumonia, Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic shock, Right ventri... ORPHA:97287
Familial Osteodysplasia, Anderson Type
Tooth malposition, Carious teeth, Failure of eruption of permanent teeth, Thick eyebrow, Abnormal... ORPHA:2769
Danon Disease
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Dilated cardiomyopathy, Generali... OMIM:300257
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Ankle flexion contracture, Hypoplasia of the maxilla, Carpal osteolysis, Interphalang... OMIM:259600
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement... ORPHA:449432
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscle fiber atrophy, Arrhythmia, Recurrent lower respiratory tract infections, Cerebral edema, D... ORPHA:258
Kapur-Toriello Syndrome
Polymicrogyria, Tetralogy of Fallot, Ventricular septal defect, Dysplastic corpus callosum, Const... ORPHA:2328
Slc35A1-Cdg
Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Neutropenia, Thromb... ORPHA:238459
Complement Component 5 Deficiency
Generalized seborrheic dermatitis, Recurrent Neisserial infections, Decreased circulating complem... OMIM:609536
Desmosterolosis
Bifid uvula, Retrognathia, Micrognathia, Narrow mouth, Splenomegaly, Submucous cleft hard palate,... ORPHA:35107
Cockayne Syndrome Type 3
Aortic root aneurysm, Hepatomegaly, Vascular calcification, Gastroesophageal reflux, Hydroureter,... ORPHA:90324
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormal heart morphology, Muscular ventricular septal defect, Dysplastic corpus callosum, Perime... ORPHA:363444
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash, Vasculitis in the skin ORPHA:90000
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
46,Xy Sex Reversal 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:612965
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,... OMIM:611762
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransferase concentr... OMIM:615558
Kleefstra Syndrome
Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Arrhythmia, Motor stereotypy, C... ORPHA:261494
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Abnormal heart morphology, Emphysema, Congenital diaphragmatic hernia OMIM:614100
Cocaine Intoxication
Rhabdomyolysis, Pulmonary edema, Colitis, Glomerulonephritis, Tubulointerstitial nephritis, Tachy... ORPHA:90068
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Delayed puberty, Aplasia of the ovary, Elevated c... OMIM:614324
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Constipation, Increased ... OMIM:614450
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Premature Ovarian Failure 13
Elevated circulating follicle stimulating hormone level OMIM:617442
Brittle Cornea Syndrome 1
Red hair, Dentinogenesis imperfecta, Joint hypermobility OMIM:229200
Pneumocystosis
Pneumocystis jirovecii pneumonia, Interstitial pneumonitis, Increased circulating antibody level,... ORPHA:723
Infantile Systemic Hyalinosis
Osteopenia, Failure to thrive, Osteomalacia, Camptodactyly of finger, Joint stiffness, Increased ... ORPHA:2176
Sweet Syndrome
Inflammation of the large intestine, Predominantly dermal neutrophilic infiltrate, Chronic lympha... ORPHA:3243
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Camptodactyly of finger, Carpal synostosis, Micrognathia, Narrow mout... ORPHA:90652
Monosomy 13Q34
Insulin resistance, Hematochezia, Epistaxis, Obesity, Hepatic steatosis, Metrorrhagia, Fetal pyel... ORPHA:96168
Alport Syndrome
Thickened glomerular basement membrane, Clitoral hypertrophy, IgA deposition in the glomerulus, R... ORPHA:63
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr... OMIM:616026
Mercury Poisoning
Hypotension, Seizure, Interstitial pneumonitis, Abnormal cerebral white matter morphology, Episod... ORPHA:330021
Wiedemann-Rautenstrauch Syndrome
Increased circulating prolactin concentration, Recurrent otitis media, Prominent scalp veins, Inc... ORPHA:3455
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ... OMIM:616576
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Decreased circulating renin level OMIM:613677
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Increased bone mineral density, Anemia, Thickened cortex of long bones OMIM:127000
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Renal hypoplasia, Hypospadias, Renal cyst, Polycystic kidney dysplasia OMIM:614091
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Highly arched eyebrow, Sparse pubic hair, Elevated circulating luteinizing horm... OMIM:618419
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Dental malocclusion, Long philtrum, Thick eyebrow, Micrognathia, Joint hypermobility,... ORPHA:73223
Lacrimoauriculodentodigital Syndrome 3
Carious teeth, Xerostomia, Widely spaced teeth, Absent eyelashes, Enamel hypoplasia OMIM:620193
Hatipoglu Immunodeficiency Syndrome
Atopic dermatitis, Eczematoid dermatitis, Recurrent otitis media, Pancytopenia, Cryptorchidism, R... OMIM:620331
Combined Oxidative Phosphorylation Deficiency 53
Seizure, Secondary microcephaly, Osteomyelitis, Dysplastic corpus callosum, Hypochromic microcyti... OMIM:619423
Nail-Patella Syndrome
Proximal finger joint hyperextensibility, High anterior hairline, Elbow flexion contracture, Cont... ORPHA:2614
Retinitis Pigmentosa 51
Macular degeneration, Obesity, Attenuation of retinal blood vessels, Bone spicule pigmentation of... OMIM:613464
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Ketonuria, G... ORPHA:2089
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Joubert Syndrome 6
Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Motor stereotypy, Bile duct p... OMIM:610688
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Increased circulating IgE level, Abnormality of the ureter, Obesity, Ost... ORPHA:3409
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Osteopetrosis, Splenomegaly OMIM:618541
Neuhauser Syndrome
Cerebral cortical atrophy, Hypercholesterolemia, Dysphagia, Primary hypothyroidism OMIM:249310
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Eczematoid dermatitis, Congenital adrenal hyperplasia, Inguinal hernia, Inc... ORPHA:96181
Osteogenesis Imperfecta, Type Vi
Dentinogenesis imperfecta, Recurrent fractures, Increased susceptibility to fractures, Joint hype... OMIM:613982
Autosomal Recessive Cutis Laxa Type 2A
Seizure, Generalized-onset seizure, Secondary microcephaly, Increased susceptibility to fractures... ORPHA:357058
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Dentinogenesis imperfecta, Carious teeth, Tracheomalacia, Long philtrum, Micrognathia... ORPHA:536467
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
T-cell lymphoma, Eczematoid dermatitis, Bilateral cryptorchidism, Decreased response to growth ho... OMIM:618336
Immunodeficiency 17
Abnormal B cell morphology, Eczematoid dermatitis, Failure to thrive, Recurrent otitis media, Chr... OMIM:615607
Neuroendocrine Tumor Of The Colon
Abnormal pulmonary valve cusp morphology, Melena, Hypotension, Right ventricular failure, Protrac... ORPHA:100080
Beta-Ketothiolase Deficiency
Hypotension, Vomiting, Diarrhea, Seizure, Hypoglycemia, Hyperglycemia, Thrombocytosis, Leukocytos... ORPHA:134
Weismann-Netter Syndrome
Anemia, Abnormality of the thyroid gland, Abnormal cortical bone morphology ORPHA:3344
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Recurrent infection of the gastrointestinal tract, Elevated circulating ... OMIM:301110
Adnp Syndrome
Abnormal temper tantrums, Recurrent upper respiratory tract infections, Oral-pharyngeal dysphagia... ORPHA:404448
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Nonarteriosclerotic cerebral calcification, Portal hypertension, Seizure OMIM:210050
Congenital-Onset Steinert Myotonic Dystrophy
Diarrhea, Gastroesophageal reflux, Bundle branch block, Obesity, Encopresis, Decreased body weigh... ORPHA:589821
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular... OMIM:145981
Asbestos Intoxication
Cor pulmonale, Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis... ORPHA:2302
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Sepsis, Smooth tongue, Nail dystrophy, Oral mucosal blisters, Enamel hypoplasia, Anemia... ORPHA:79396
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Cerebellar atrophy, Cerebral atrophy, Renal ... OMIM:251300
Tick-Borne Encephalitis
Unusual CNS infection, Myelitis, Stiff neck, Leukopenia, Abnormal circulating cytokine concentrat... ORPHA:297
Mucolipidosis Iv
Dysplastic corpus callosum, Microcephaly, Cerebral dysmyelination OMIM:252650
Pili Torti, Early-Onset
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co... OMIM:261900
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Renal artery stenosis, Cerebral artery atherosclerosis, Coronary artery atherosclero... OMIM:209010
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Bone marrow hypocellularity, Ketonuria, Failure to thrive, Large for gestational a... OMIM:614520
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Acne inversa, Chronic furunculosis, Squamous cell carcinoma, Perifolliculitis, Recurrent cutaneou... OMIM:613736
Weaver Syndrome
Joint contracture of the hand, Umbilical hernia, Cryptorchidism, Inguinal hernia, Polyphagia, Cam... OMIM:277590
Oculodentodigital Dysplasia
Broad alveolar ridges, Carious teeth, Fine hair, Camptodactyly of finger, Cranial hyperostosis, A... ORPHA:2710
Schwartz-Jampel Syndrome
Pursed lips, Micrognathia, Narrow mouth, Hip contracture, Generalized hirsutism, Everted lower li... ORPHA:800
Long Qt Syndrome 15
Ventricular bigeminy, Seizure, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus ... OMIM:616249
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Recurrent respiratory infections, Leukocytosis, Sple... ORPHA:3226
Silver-Russell Syndrome
Precocious puberty, Insulin resistance, Abnormal male external genitalia morphology, Abnormality ... ORPHA:813
Hypophosphatasia
Seizure, Emphysema, Anemia, Craniosynostosis, Recurrent fractures ORPHA:436
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Exercise intolerance, Hypertrophic cardiomyopathy, Obesity, Myalgia, Elevated circulating creatin... OMIM:615418
Neuroendocrine Tumor Of The Rectum
Hematochezia, Abnormal pulmonary valve cusp morphology, Hypotension, Right ventricular failure, P... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Abnormal pulmonary valve cusp morphology, Hypotension, Right ventricular failure, P... ORPHA:100082
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Joint stiffness, Gingival overgrowth, Narrow mouth, Splenomegaly, Protrud... OMIM:230600
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Hepatom... OMIM:607361
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hyperparathyroidism, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Pancreatiti... OMIM:145980
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat... ORPHA:363705
Hellp Syndrome
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increased circulati... ORPHA:244242
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Lymphadenopathy,... ORPHA:98848
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Hepatosplenomegaly, Reticulocytosis, Anorexia, Decreased mean corpuscular volume, Hemoly... OMIM:611590
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Recurre... OMIM:618116
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, ... OMIM:618727
Joubert Syndrome 1
Nephropathy, Hepatic fibrosis, Self-mutilation, Renal cyst, Aggressive behavior, Hyperactivity OMIM:213300
Prolactinoma
Secondary growth hormone deficiency, Male hypogonadism, Osteopenia, Adrenocorticotropin deficient... ORPHA:2965
Myh9-Related Disease
Nephritis, Giant platelets, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Myocardial... ORPHA:182050
45,X/46,Xy Mixed Gonadal Dysgenesis
Recurrent otitis media, Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Bicuspid aorti... ORPHA:1772
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Eczematoid dermatitis, Lymphoma, Leukopenia, Acute myeloid leukemia,... OMIM:616871
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Retinal degeneration, Recurrent bacterial infections, Vacuolated lymphocytes, Decre... OMIM:248500
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Obesity, Abnormality of the thyroid gland... ORPHA:2234
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Elevated circulating C-reactive protei... OMIM:607115
Cranioectodermal Dysplasia 1
Chronic kidney disease, Malformation of the hepatic ductal plate, Hepatic failure, Hepatic fibros... OMIM:218330
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Optic atrophy, Obesity, Mitral regurgitation, Pulmonary arterial hypertensi... OMIM:614651
Nocardiosis
Lymphadenitis, Scleritis, Anorexia, Endocarditis, Cutaneous abscess, Osteomyelitis, Pleural effus... ORPHA:31204
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I... OMIM:179800
Osteogenesis Imperfecta
Carious teeth, Micrognathia, Decreased skull ossification, Abnormality of dental color, Osteopeni... ORPHA:666
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Methylmalonic aciduria, Failure to thrive, Decreased circulating... OMIM:275350
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Normocytic anemia, Gastrointestinal hemorrhage, Hypochromic anemia, Aortic... ORPHA:99147
Majeed Syndrome
Inflammatory abnormality of the skin, Microcytic anemia, Osteomyelitis, Hepatosplenomegaly, Eryth... OMIM:609628
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Autoimmunity, Systemic lupus erythematosus ORPHA:48377
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Failure to thrive, Sparse bone trabeculae, Thin bony co... OMIM:600081
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Seizure, Hypoglycemia, Tricuspid regurgitation, Mitral regur... OMIM:620300
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Seizure, Aspiration pneumonia, Left ventricular noncompaction, Tricuspid ... OMIM:619167
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Abnormal sperm motility, Bronchiectasis, Female infertility, ... ORPHA:244
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro... OMIM:617168
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitation... ORPHA:99104
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Tricuspid regurgitation, Ventricular septal defect, Ambiguous genitalia, Atrial... OMIM:263520
Orthostatic Hypotension 1
High palate, Reduced circulating prolactin concentration, Joint hypermobility OMIM:223360
Cockayne Syndrome A
Dry hair, Limitation of joint mobility, Carious teeth, Dental malocclusion, Hypogonadism, Cryptor... OMIM:216400
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Epistaxis, Diarrhea, Rickets, Splenomegaly OMIM:211600
46,Xy Sex Reversal 1
Absence of secondary sex characteristics, Elevated circulating luteinizing hormone level, Elevate... OMIM:400044
Acute Radiation Syndrome
Hypotension, Inflammatory abnormality of the skin, Vomiting, Diarrhea, Seizure, Lymphopenia, Inte... ORPHA:454831
Neu-Laxova Syndrome
Osteopenia, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Rickets, S... ORPHA:2671
Chromomycosis
Atypical scarring of skin, Keratitis, Squamous cell carcinoma, Keratoconjunctivitis sicca, Lympha... ORPHA:182
Alexander Disease
Self-injurious behavior, Osteopenia, Hypotension, Seizure, Cerebral calcification, Infectious enc... ORPHA:58
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Obesity, Absence of pubertal development, Cryptorchidism, Hypogonadotr... OMIM:610628
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Increased circulating lactate dehydroge... OMIM:309000
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Abnormal heart morphology, S... ORPHA:2237
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Aspartylglucosaminuria
Recurrent respiratory infections, Aspartylglucosaminuria, Mitral regurgitation, Hernia, Neutropen... OMIM:208400
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Gastroesophageal reflux, Synostosis of the proximal phalanx of the thumb with the 1st metacarpal,... OMIM:300967
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Pulmonary edema, Bradycardia, T... ORPHA:70587
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
High, narrow palate, Bifid uvula, Sparse eyebrow, Dental crowding, Thick lower lip vermilion, Cry... OMIM:309583
Cystic Echinococcosis
Unusual infection, Peritoneal abscess, Invasive parasitic infection, Abscess, Splenic cyst, Incre... ORPHA:400
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased serum creatinine, Constipation, Pineal cyst, Decreased HDL cholest... OMIM:618885
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Cellulitis, Vasculitis, Uveitis, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin rash, Or... ORPHA:32960
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Tracheomalacia, Atelectasis, S... ORPHA:60032
Pituitary Adenoma 1, Multiple Types
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... OMIM:102200
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ... ORPHA:226313
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Craniofacial osteosclerosis, Increased skull ossification, Long eyelashes, Tented upper lip vermi... OMIM:618476
Thyrotoxic Periodic Paralysis
Weight loss, Transient hypophosphatemia, Ventricular fibrillation, Hyperkalemia, Postprandial hyp... ORPHA:79102
Nephronophthisis 11
Hepatic fibrosis, Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5... OMIM:613550
Phoar2-Enteropathy Syndrome
Hypoalbuminemia, Secretory diarrhea, Seborrheic dermatitis, Hyperhidrosis, Knee pain, Acne OMIM:614441
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Abnormal pulmonary interstitial morphology, Emphysema, Pancy... OMIM:181000
Williams Syndrome
Type II diabetes mellitus, Cryptorchidism, Mitral regurgitation, Polycystic ovaries, Ventricular ... ORPHA:904
Combined Deficiency Of Factor V And Factor Viii
Epistaxis, Gastrointestinal hemorrhage, Hyperlipidemia, Intracranial hemorrhage, Hyperuricemia, H... ORPHA:35909
Gaucher Disease Type 1
Splenic infarction, Osteopenia, Pathologic fracture, Hepatosplenomegaly, Pancytopenia, Portal hyp... ORPHA:77259
Erdheim-Chester Disease
Osteomyelitis, Hypogonadotropic hypogonadism, Hyperhidrosis, Anemia, Increased bone mineral densi... ORPHA:35687
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Absence of subcutaneous fat, Reduced subcutaneous adipose t... ORPHA:90158
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Enamel hypoplasia, Arthrogryposis multiplex congenita, Nail dystrophy, Oral mucosal blisters OMIM:226730
Meckel Syndrome, Type 6
Hepatic fibrosis, Aplasia of the bladder, Horseshoe kidney, Absent gallbladder, Hepatic cysts, Re... OMIM:612284
Visceral Myopathy 1
Vomiting, Diarrhea, Urinary retention, Megacystis, Gastroparesis, Vesicoureteral reflux, Hydronep... OMIM:155310
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypotension, Diarrhea, Type I diabetes mellitus, Hepatitis, Seizure, Hypoglyce... ORPHA:199299
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Bardet-Biedl Syndrome 3
Renal hypoplasia, Pigmentary retinopathy, Tricuspid regurgitation, Obesity, Rod-cone dystrophy OMIM:600151
Gastrocutaneous Syndrome
Type II diabetes mellitus, Coronary artery atherosclerosis ORPHA:2069
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level ORPHA:231632
Meningioma
Decreased serum estradiol, Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Pitu... ORPHA:2495
Gaucher Disease Type 3
Pancytopenia, Increased susceptibility to fractures, Splenomegaly, Delayed puberty, Thrombocytope... ORPHA:77261
Chronic Mucocutaneous Candidiasis
Abnormal vagina morphology, Recurrent respiratory infections, Recurrent urinary tract infections,... ORPHA:1334
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia, Hyperlipidemia, Hyperuricemia ORPHA:364
Dworschak-Punetha Neurodevelopmental Syndrome
Seizure, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Colpocephaly OMIM:619955
Keutel Syndrome
Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia, Seizure, Recurrent otitis medi... OMIM:245150
Antisynthetase Syndrome
Aortic regurgitation, Neoplasm, Skin rash, Elevated circulating creatine kinase concentration, My... ORPHA:81
Immune-Mediated Necrotizing Myopathy
Congestive heart failure, Palpitations, Neoplasm, Skin rash, Elevated circulating creatine kinase... ORPHA:206569
Mal De Meleda
Flexion contracture, Inflammatory abnormality of the skin, Superficial dermal perivascular inflam... ORPHA:87503
Megalocornea-Intellectual Disability Syndrome
Motor stereotypy, Hypothyroidism, Hypercholesterolemia ORPHA:2479
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Cerebral cortical atrophy, Failure to thrive, Tetral... ORPHA:96147
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Carpal synostosis, Elevated circulating follicle ... OMIM:609441
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga... ORPHA:95430
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Neurodegeneration, Hyperbilirubinemia, Hepatic steatosis, Decreased body weight, Hematuria, Ventr... OMIM:619475
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Stage 5 chronic kidney dise... OMIM:608612
Poliomyelitis
Hypovolemic shock, Myelitis, Vomiting, Hypoplasia of the musculature, Skeletal muscle atrophy, Lo... ORPHA:2912
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... ORPHA:247768
Scrub Typhus
Hypotension, Seizure, Splenomegaly, Skin rash, Infectious encephalitis, Myocarditis, Anterior uve... ORPHA:83317
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Anemia, Calvarial osteosclerosis, Decreased skull ossification OMIM:244460
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypertrophic cardiomyopathy, Dysplastic corpus callosum, Seizure OMIM:618810
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp... OMIM:314050
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
Microtriplication 11Q24.1
Bruxism, Obesity, Hyperlipidemia ORPHA:289522
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Clitoral hypertrophy, Decreased testicular size, External genital hypoplasia, Ovotestis, Ambiguou... OMIM:610644
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter... ORPHA:85410
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Self-injurious behavior, Non-convulsive status epilepticus without coma, Lateral ventricle dilata... ORPHA:544488
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Increased circulating androstenedione conce... OMIM:158330
Right Atrial Isomerism
Total anomalous pulmonary venous return, Pulmonary artery atresia, Polysplenia, Abnormal lung lob... OMIM:208530
Neuroendocrine Tumor Of Stomach
Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic shock, Right ventricular failu... ORPHA:100075
Cutaneous Mastocytoma
Hypotension, Vomiting, Diarrhea, Telangiectasia macularis eruptiva perstans, Telangiectasia of th... ORPHA:79455
Osteopetrosis With Renal Tubular Acidosis
Tooth malposition, Abnormality of the dentition, Retrognathia, Thick lower lip vermilion, Pancyto... ORPHA:2785
Meningococcal Meningitis
Hypotension, Seizure, Shock, Stiff neck, Skin rash, Infectious encephalitis, Anorexia, Projectile... ORPHA:33475
Igg4-Related Ophthalmic Disease
Keratitis, Trigeminal neuralgia, Orchitis, Prostatitis, Abnormality of the anterior pituitary, Pa... ORPHA:449563
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Vasculitis, Recurrent pneumonia, Hematochezia, Subconjunctival he... OMIM:617718
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Dysplastic corpus callosum, Microcephaly, Camptodactyly, Flexion contracture OMIM:604273
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiomyopathy, Seizure, Hypoketotic hypoglycemia, Rhabdomyolysis, Microcephaly, Arr... ORPHA:159
Chromosome 1P36 Deletion Syndrome, Distal
Aortic root aneurysm, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Polyphagi... OMIM:607872
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Chronic mucocutane... OMIM:147060
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eosinophilia, L... ORPHA:139402
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Natal tooth, Long philtrum, Micrognathia, Protruding tongue, Malar flatteni... ORPHA:50945
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Pancytopenia, Malar rash, Abnorm... ORPHA:398124
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Increased circu... ORPHA:829
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Enur... ORPHA:420741
Bullous Pemphigoid
Eczematoid dermatitis, Psoriasiform dermatitis, Recurrent infections, Pruritus, Diabetes mellitus ORPHA:703
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, H... OMIM:277460
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Malakoplakia
Inflammatory abnormality of the skin, Urinary bladder inflammation, Abnormality of the menstrual ... ORPHA:556
Serotonin Syndrome
Hypotension, Diarrhea, Mydriasis, Seizure, Myoclonus, Rhabdomyolysis, Nausea, Tachycardia, Restle... ORPHA:43116
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Mevalonic Aciduria
Fluctuating splenomegaly, Morbilliform rash, Hepatosplenomegaly, Leukocytosis, Skin rash, Elevate... OMIM:610377
Primary Sjögren Syndrome
Arteritis, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, L... ORPHA:289390
Glucagonoma
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:97280
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Head-banging, Seizure, Muscular ventricular septal defect, Hypoplasia of the corpus callosum, Dys... OMIM:618569
Faciocardiomelic Syndrome
Osteopenia, Dental malocclusion, Hyperplasia of the maxilla, Long philtrum, Micrognathia, Thin bo... OMIM:612731
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Highly arched eyebrow, Bifid uvula, Abnormality of the dentition, Low anterior hairline, Low post... OMIM:615802
Aspartylglucosaminuria
Recurrent respiratory infections, Umbilical hernia, Aspartylglucosaminuria, Splenomegaly, Inguina... ORPHA:93
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Decreased serum testosterone concentration, Non-obstructive azoospermia, Decre... ORPHA:432
Immunodeficiency 59 And Hypoglycemia
Recurrent upper respiratory tract infections, Sepsis, Arteritis, Acne inversa, Herpes simplex enc... OMIM:233600
Developmental And Epileptic Encephalopathy 49
Myoclonic seizure, Basal ganglia calcification, Cerebral calcification, Myoclonus, Dysplastic cor... OMIM:617281
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Rickets, Extramedullary hematopoiesis, Prolonged prothrombin time, Steatorrhea ORPHA:79303
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Glycosuria, Osteomalacia, Recurrent fractures OMIM:613388
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... ORPHA:48104
Mednik Syndrome
Hepatic fibrosis, Diarrhea, Cholestasis, Cirrhosis, Increased circulating very long-chain fatty a... OMIM:609313
Livedoid Vasculopathy
Graves disease, Polycythemia, Abnormal circulating lipid concentration, Atrophic scars, Pancytope... ORPHA:542643
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypomagnesiuria, Nephrolithiasis, Paratho... ORPHA:405
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ... ORPHA:100026
Infant Botulism
Hypotension, Mydriasis, Xerostomia, Hypertension, Keratoconjunctivitis sicca, Constipation, Anore... ORPHA:178478
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Telangiectasia, Finger symphala... ORPHA:221008
B4Galt1-Cdg
Inflammatory abnormality of the skin, Splenomegaly, Elevated circulating creatine kinase concentr... ORPHA:79332
Vipoma
Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ... ORPHA:97282
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal optic nerve morphology, Increased circulating IgG4 level, Optic nerve compression, Myosi... ORPHA:79078
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Panacinar emphysema, Bronchiectasis, Chronic bronchitis OMIM:613490
Mycosis Fungoides
Neoplasm of the skin, Eczematoid dermatitis, Lymphoma, Psoriasiform dermatitis, Lymphadenopathy, ... OMIM:254400
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Small scrotum, Recurrent pneumonia, Fixated interests, Eczematoid dermat... OMIM:620330
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Myocardial necrosis, Increased red blood cell count, Vomiting, Granuloma, Abnormal cer... ORPHA:68
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Atrial septal defect, Dysphagia,... ORPHA:500150
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Coronary artery ather... OMIM:144010
Peroxisome Biogenesis Disorder 1B
Hepatic fibrosis, Hyperoxaluria, Renal cyst, Cirrhosis, Hepatomegaly OMIM:601539
Dubowitz Syndrome
Decreased circulating IgG level, Aplastic anemia, Eczematoid dermatitis, Lymphoma, Hypocholestero... OMIM:223370
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, A... ORPHA:93160
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Cellulitis, Eczematoid dermatitis, Recurrent respiratory infections, Lymphoma, Increased circulat... ORPHA:2314
Alveolar Echinococcosis
Cutaneous abscess, Budd-Chiari syndrome, Portal hypertension, Increased circulating antibody leve... ORPHA:284
Immunodeficiency 68
Sepsis, Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, A... OMIM:612260
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Granuloma, Interface hepatitis, Sclerosing cholangitis, Gran... ORPHA:562639
Desmosterolosis
Joint contracture of the hand, Micrognathia, Alveolar ridge overgrowth, Generalized osteosclerosi... OMIM:602398
Hypercholanemia, Familial 1
Steatorrhea, Rickets OMIM:607748
Aa Amyloidosis
Hypotension, Vomiting, Abnormal heart morphology, Nausea, Chronic diarrhea ORPHA:85445
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Vomiting, Rickets OMIM:602722
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis OMIM:179830
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Increased bone mineral density, Coarse metaphyseal trabecularization, Thickened cortex of long bo... OMIM:620558
Microphthalmia, Syndromic 9
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Single ventricle, Hypoplasia of ... OMIM:601186
Williams-Beuren Syndrome
Recurrent otitis media, Mitral regurgitation, Chronic constipation, Ventricular septal defect, Mi... OMIM:194050
Somatostatinoma
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... ORPHA:97283
Common Variable Immunodeficiency
Pneumonia, Vasculitis, Recurrent respiratory infections, Emphysema, Lymphopenia, Decreased circul... ORPHA:1572
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Epistaxis, Cardiomyopathy, Ocular albinism, Co... OMIM:203300
Zttk Syndrome
Aortic regurgitation, Seizure, Status epilepticus, Periventricular leukomalacia, Hypoplasia of th... OMIM:617140
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Milroy Disease
Cellulitis, Neoplasm of the skin, Erysipelas, Hydrocele testis, Angiosarcoma ORPHA:79452
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hematochezia, Diarrhea, Failure to thrive, Hypokalemia, Abdominal pain OMIM:174900
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Interstitial emphysema, Seizure, Polymicrogyria, Lymphopenia... OMIM:619708
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Left ventricular n... OMIM:613426
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Gastroesophageal reflux, Seizure, Pseudobulbar paralysis, Tricuspid regurgitation, Synostosis inv... ORPHA:466791
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Decreased circulating renin level ORPHA:231580
Gaucher Disease
Splenic infarction, Osteopenia, Cholelithiasis, Gingival bleeding, Osteolysis, Pathologic fractur... ORPHA:355
Aicardi-Goutieres Syndrome 7
Pancytopenia, Chilblains, Increased circulating antibody level, Weight loss, Nephrotic syndrome, ... OMIM:615846
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Uterus didelphy... OMIM:146255
Netherton Syndrome
Eczematoid dermatitis, Seizure, Emphysema, Increased circulating IgE level, Skin rash, Erythroder... ORPHA:634
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Panniculitis, Hypertriglyceridemia, Increased circulating ferritin concentration OMIM:618398
Short-Rib Thoracic Dysplasia 12
Periportal fibrosis, Renal hypoplasia, Splenomegaly, Patent foramen ovale, Ventricular septal def... OMIM:269860
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent pneumonia, Hypotension, Recurrent upper respiratory tract infections, Generalized non-m... ORPHA:293978
Frasier Syndrome
Increased circulating gonadotropin level, Decreased serum estradiol, Streak ovary, Hypergonadotro... ORPHA:347
Codas Syndrome
Delayed eruption of teeth, Cryptorchidism, Generalized joint hypermobility, Enamel hypoplasia, De... OMIM:600373
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia, Congenital hepatic fibrosis ORPHA:2031
Osteogenesis Imperfecta, Type Vii
Osteopenia, Dentinogenesis imperfecta, Long philtrum, Decreased calvarial ossification, Multiple ... OMIM:610682
Rubinstein-Taybi Syndrome 1
Facial hypertrichosis, Micrognathia, Frontal upsweep of hair, Cryptorchidism, Narrow mouth, Low p... OMIM:180849
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Increased HDL cholesterol concentration, Right ventricular f... ORPHA:70591
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Vomiting, Gastroesophageal reflux, Abnormal pulmonary interstitial morphology, Atelectasis, Recur... OMIM:620233
Ethylene Glycol Poisoning
Hypotension, Vomiting, Seizure, Congestive heart failure, Shock, Myoclonus, Pulmonary edema, Gast... ORPHA:31826
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Eczematoid dermatitis, Hypogonadism, Elbow flexion contracture, ... ORPHA:3132
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Decreased circulating IgG level, Diarrhea, Atelectasis, Pulmonary fibros... OMIM:618278
Satoyoshi Syndrome
Diarrhea, Amenorrhea, Fatigue, Hypoplasia of the uterus, Mildly elevated creatine kinase OMIM:600705
Septo-Optic Dysplasia Spectrum
Polydipsia, Obesity, Cryptorchidism, Fatigue, Hypohidrosis, Constipation, Maternal diabetes, Ante... ORPHA:3157
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Kid Syndrome
Neoplasm of the skin, Trichilemmoma, Posterior blepharitis, Postnatal growth retardation, Psorias... ORPHA:477
Developmental And Epileptic Encephalopathy 100
Recurrent respiratory infections, Elbow flexion contracture, Micrognathia, Gingival overgrowth, P... OMIM:619777
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Sparse scalp hair, Retrognathia, Limited elbow extension, Type II diabetes me... OMIM:210720
22Q11.2 Deletion Syndrome
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypoparathyroidism, Polycystic k... ORPHA:567
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Grfoma
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... ORPHA:97261
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cystic renal d... OMIM:200995
Mhc Class I Deficiency 1
Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis media, Bronchie... OMIM:604571
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... ORPHA:3109
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Pallister-Hall Syndrome
Natal tooth, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, Thyroid hypoplasia, ... ORPHA:672
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Pathologic fracture, Synostosis... ORPHA:221016
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Arteriosclerosis, Cachexia, Skin rash ORPHA:220295
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Pustule, Neutropenia, Anorexia, Elevated circulating C-reactive p... ORPHA:50918
Dengue Fever
Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Hypotension, Leukopenia, Skin rash, Thrombocyto... ORPHA:99828
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Osteopenia, Recurrent pneumonia, Gastroesophageal reflux, Morgagni diaphragmati... OMIM:613177
Familial Glucocorticoid Deficiency
Hypotension, Vomiting, Diarrhea, Hypertrophic cardiomyopathy, Ketotic hypoglycemia, Constipation,... ORPHA:361
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Eczematoid dermatitis,... ORPHA:508542
Familial Mediterranean Fever
Erysipelas, Leukocytosis, Splenomegaly, Orchitis, Crohn's disease, Peritonitis, Arthritis, Neutro... OMIM:249100
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Recurrent bronchitis, Pancolitis, Perianal abscess, Enterocolitis, Rectovaginal fis... OMIM:612567
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... ORPHA:158048
Kallmann Syndrome
Renal agenesis, Abnormal morphology of female internal genitalia, Decreased testicular size, Hypo... ORPHA:478
Senior-Loken Syndrome 1
Nephronophthisis, Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidn... OMIM:266900
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Iron deficiency anemia, Rickets, Osteomalacia ORPHA:89937
Apparent Mineralocorticoid Excess
Hypokalemia, Decreased circulating renin level ORPHA:320
Ppoma
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... ORPHA:97278
Myotonic Dystrophy 2
Hypogonadism, Type II diabetes mellitus, Frontal balding, Elevated circulating follicle stimulati... OMIM:602668
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis, Hypotension, Vomiting, Seizure, Camptodactyly of finger, Microcephaly, A... ORPHA:2135
Cystic Fibrosis
Osteopenia, Decreased body mass index, Failure to thrive, Recurrent respiratory infections, Recur... ORPHA:586
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal oral mucosa morphology, Alopecia, Sepsis, Recurrent urinary tract infections, Pyoderma, ... ORPHA:79404
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lymphadenitis, Absence of subcutaneous fat, Reduced subcuta... ORPHA:90156
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Immunodeficiency 55
Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Postnatal growth retardation, My... OMIM:617827
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Decreased circulating renin level ORPHA:231625
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Pathologic fracture, Hypophosphatemic rickets, Reduced bone mineral density, Osteomalacia ORPHA:157215
Glycogen Storage Disease Due To Acid Maltase Deficiency
Macroglossia, Vasculitis, Lower limb muscle weakness, Atelectasis, Hypertrophic cardiomyopathy, T... ORPHA:365
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Premature loss of primary teeth, Splenomegaly, Anemia, Osteopetrosis, ... ORPHA:667
Marfan Syndrome
Aortic regurgitation, Osteopenia, Spontaneous pneumothorax, Skeletal muscle atrophy, Pulmonary ar... ORPHA:558
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Acne, Menorrhagia ORPHA:2795
Beckwith-Wiedemann Syndrome
Nephropathy, Tall stature, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Neonatal hypoglycemia, A... ORPHA:116
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Recurrent otitis media, Hepatosplenomegaly, Cleft soft palate, Micrognathia, Cryptorchidism, Hip ... OMIM:619503
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Disinhibition, Polyphagia, Repetitive compulsive behavior, Neuronal lo... OMIM:607485
Fanconi Renotubular Syndrome 1
Rickets, Glycosuria, Osteomalacia OMIM:134600
Thrombocytopenia 1
Decreased mean platelet volume, Epistaxis, Eczematoid dermatitis, Increased circulating IgE level... OMIM:313900
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Osteomalacia, Hepatosplenomegaly, Hypophosphatemic rickets, Osteoarthritis OMIM:307800
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... OMIM:301074
Acute Adrenal Insufficiency
Normocytic anemia, Hypotension, Diarrhea, Seizure, Hypoglycemia, Recurrent acute respiratory trac... ORPHA:95409
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Diarrhea, Rickets, Splenomegaly, Steatorrhea OMIM:607765
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Long penis, Small for gestational age, Failure to thrive, Secundum atrial septal defec... OMIM:264090
Autosomal Recessive Cutis Laxa Type 1
Recurrent pneumonia, Peripheral pulmonary artery stenosis, Congestive heart failure, Emphysema, D... ORPHA:90349
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Increased proportion of exhausted T cells, Stomatitis OMIM:618307
Vexas Syndrome
Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration of the skin, Macrocyti... OMIM:301054
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Hirsutism, Enlarged polycystic ovaries, Increased serum t... ORPHA:64739
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis OMIM:224230
Primary Hyperoxaluria
Abnormality of the dentition, Abnormal dental pulp morphology, Generalized osteosclerosis, Recurr... ORPHA:416
Rett Syndrome
Increased serum leptin, Bruxism, Hyperammonemia, Cholecystitis, Stereotypical hand wringing, Incr... ORPHA:778
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Vomiting, Diarrhea, Hypotension, Abnormality of the spleen, Lymphocy... ORPHA:79456
Bardet-Biedl Syndrome 6
External genital hypoplasia, Obesity, Renal cyst, Vaginal atresia, Hypospadias, Diabetes mellitus OMIM:605231
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Self-injurious behavior, Horseshoe kidney, Increased body weight, Aggressive behavior, Micropenis OMIM:300860
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Vomiting, Pulmonary embolism, Aspiration pneumonia, Leukocytosi... ORPHA:94093
Ring Chromosome 12 Syndrome
Glandular hypospadias, Breast hypoplasia, Cryptorchidism, Hemangioma, Hypothyroidism, Acne, Uteri... ORPHA:1439
Liver Disease, Severe Congenital
Recurrent otitis media, Hyperbilirubinemia, Hypospadias, Hypoproteinemia, Systolic heart murmur, ... OMIM:619991
Familial Adenomatous Polyposis
Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Biliary t... ORPHA:733
Papillon-Lefèvre Syndrome
Neoplasm of the skin, Periodontitis, Cigarette-paper scars, Pustule, Melanoma, Chronic furunculos... ORPHA:678
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Sepsis In Premature Infants
Hypotension, Vomiting, Diarrhea, Seizure, Leukocytosis, Splenomegaly, Bradycardia, Enterocolitis,... ORPHA:90051
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
Tropical Calcific Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis, Pancreatic calcification,... OMIM:608189
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E... OMIM:610755
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial s... ORPHA:353281
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Diarrhea, Hypotension, Vomiting, Recurrent respiratory infections OMIM:264350
Digeorge Syndrome
Recurrent otitis media, Ovarian cyst, Cholelithiasis, Parathyroid hypoplasia, Impaired T cell fun... OMIM:188400
Meckel Syndrome
Accessory spleen, Multicystic kidney dysplasia, Pancreatic cysts, Situs inversus totalis, Cryptor... ORPHA:564
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Seizure, Ragged-red muscle fibers, Hypoplasia of the corpus callosum, Agenes... OMIM:614924
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Decreased circulating renin level OMIM:615474
Addison Disease
Normocytic anemia, Hypotension, Diarrhea, Type I diabetes mellitus, Seizure, Hypoglycemia, Thiami... ORPHA:85138
Congenital Isolated Acth Deficiency
Hypoglycemic seizures, Hypotension, Neonatal hypoglycemia, Hepatitis ORPHA:199296
46,Xx Sex Reversal 1
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:400045
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension, Seizure ORPHA:91354
Cutis Laxa, Autosomal Recessive, Type Ia
Aortic regurgitation, Peripheral pulmonary artery stenosis, Emphysema, Supravalvular aortic steno... OMIM:219100
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Arrhythmia, Fibrosarcoma, Tubulointerstitial nephritis, Conju... ORPHA:33001
Frank-Ter Haar Syndrome
Osteopenia, Dental malocclusion, Cortical irregularity, Micrognathia, Gingival overgrowth, Thin u... OMIM:249420
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Recurrent fractures, Rickets, Glycosuria OMIM:268315
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia... OMIM:260400
Distal Deletion 12Q
Obsessive-compulsive trait, Ectopic kidney, Polycystic kidney dysplasia, Patent ductus arteriosus... ORPHA:96149
Weill-Marchesani Syndrome 1
Tooth malposition, Hypoplasia of the maxilla, Abnormal dental morphology, Joint stiffness, Thin b... OMIM:277600
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Renal ... OMIM:194072
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Hypercholesterolemia, Familial, 1
Xanthelasma, Increased LDL cholesterol concentration, Coronary artery atherosclerosis OMIM:143890
Hydroxykynureninuria
Motor stereotypy, Hypotension, Tachycardia, Stomatitis ORPHA:79155
Infantile Nephropathic Cystinosis
Vomiting, Polydipsia, Glycosuria, Rickets, Constipation, Abnormal cerebral white matter morphology ORPHA:411629
Neonatal Marfan Syndrome
Abnormal cardiac ventricle morphology, Tricuspid regurgitation, Emphysema, Mitral regurgitation, ... ORPHA:284979
Gitelman Syndrome
Hypotension, Vomiting, Polydipsia, Seizure, Palpitations, Rhabdomyolysis, Salt craving, Constipat... OMIM:263800
Sarcoidosis
Abnormal pleura morphology, Arrhythmia, Erythema nodosum, Tubulointerstitial nephritis, Heart blo... ORPHA:797
Prothrombin Deficiency, Congenital
Epistaxis, Gastrointestinal hemorrhage, Prolonged prothrombin time, Joint hemorrhage, Prolonged b... OMIM:613679
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Eczematoid dermatitis, Recurrent respiratory infections, Camptodactyly of finger, Abno... ORPHA:2273
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Vomiting, Seizure, Osteomalacia, Left ventricular systolic dysfunction, ... ORPHA:51608
Chronic Granulomatous Disease
Sepsis, Abnormality of neutrophils, Eczematoid dermatitis, Splenomegaly, Otitis media, Sinusitis,... ORPHA:379
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Rickets, Osteomalacia, Exocrine pancreatic insufficiency, Keratoconjunctivitis sicca, I... ORPHA:309031
Familial Multiple Lipomatosis
Insulin resistance, Overgrowth, Hyperlipidemia, Abnormal tricuspid valve morphology ORPHA:199276
Carney Complex, Type 1
Palatine myxoma, Pituitary adenoma, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular hyper... OMIM:160980
African Trypanosomiasis
Diarrhea, Hepatosplenomegaly, Arrhythmia, Abnormal basal ganglia MRI signal intensity, Third degr... ORPHA:3385
Griscelli Syndrome Type 2
Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly ORPHA:79477
Lacrimoauriculodentodigital Syndrome
Bifid uvula, Abnormality of the dentition, Carious teeth, Xerostomia, Abnormal dental enamel morp... ORPHA:2363
Ehlers-Danlos Syndrome, Vascular Type
Foot acroosteolysis, Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Periodontitis, Hyperm... OMIM:130050
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Arrhythmia, Acute infectious pneumo... ORPHA:707
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity OMIM:615538
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Rickets, Glycosuria, Osteomalacia, Fasting hypoglycemia OMIM:227810
Cholera
Hypovolemic shock, Hypotension, Vomiting, Diarrhea, Seizure, Aspiration pneumonia, Hypoglycemia, ... ORPHA:173
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Atelectasis, Limitation of joint mobility, Recurrent aphthous stom... ORPHA:728
Occipital Horn Syndrome
Synostosis of joints, Osteopenia, Gastroesophageal reflux, Rickets, Hepatitis, Osteomalacia, Gast... ORPHA:198
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Skin rash, Elevated... ORPHA:93672
Blepharophimosis, Ptosis, And Epicanthus Inversus
Increased circulating gonadotropin level, Highly arched eyebrow, Sparse pubic hair, High palate OMIM:110100
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Osteopenia, Peripheral pulmonary artery stenosis, Vomiting, Bronchiolitis, ... ORPHA:90348
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Chilblains... ORPHA:51
Colchicine Poisoning
Hypotension, Vomiting, Diarrhea, Cardiogenic shock, Congestive heart failure, Leukocytosis, Arrhy... ORPHA:31824
Microphthalmia/Coloboma 12
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Vesicoureteral reflux, Remnants... OMIM:120200
Ellis Van Creveld Syndrome
Acute leukemia, Capitate-hamate fusion, Synostosis of carpal bones, Atrioventricular canal defect... ORPHA:289
Spondylocarpotarsal Synostosis Syndrome
Block vertebrae, Failure of eruption of permanent teeth, Carpal synostosis, Limited elbow extensi... OMIM:272460
Acromegaly
Acne, Long penis, Pituitary prolactin cell adenoma, Pituitary growth hormone cell adenoma, Hypert... ORPHA:963
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Emphysema, ... OMIM:123700
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Hirsutism, Enlarged polycystic ovaries, Polycystic ovaries, ... ORPHA:90301
Listeriosis
Arteritis, Abscess, Pustule, Meningitis, Endocarditis, Unusual CNS infection, Unusual skin infect... ORPHA:533
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... ORPHA:555905
Distal Renal Tubular Acidosis
Vomiting, Diarrhea, Polydipsia, Rickets, Osteomalacia, Hemolytic anemia, Increased susceptibility... ORPHA:18
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function ORPHA:30
Igg4-Related Thyroid Disease
Hashimoto thyroiditis, Increased circulating IgG4 level, Sclerosing cholangitis, Thyroiditis ORPHA:64744
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Amelogenesis imperfecta, Enamel hypoplasia, Nail dystrophy OMIM:245660
Marfan Syndrome
Aortic regurgitation, Mitral annular calcification, Pulmonary artery dilatation, Decreased muscle... OMIM:154700
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Diarrhea, Gastroesophageal reflux, Myoclonus, Tongue thrusting, Constipation, Limb h... OMIM:608643
Acute Generalized Exanthematous Pustulosis
Pruritus, Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic derma... ORPHA:293173
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Pierson Syndrome
Retinal vascular tortuosity, Hypopigmentation of the fundus, Hyperechogenic kidneys, Stage 5 chro... OMIM:609049
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Gastroesophageal reflux, Aortic root aneurysm, Congestive heart failure, Horseshoe kidney, Aspira... ORPHA:444077
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Seizure, Emphysema, Pulmonary lymphangiomy... ORPHA:538
Somatomammotropinoma
Broad jaw, Abnormality of the dentition, Mandibular prognathia, Pituitary adenoma, Pituitary prol... ORPHA:314769
Loeys-Dietz Syndrome 4
Emphysema, Mitral valve prolapse, Joint hypermobility, Eosinophilic infiltration of the esophagus... OMIM:614816
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Immunoglobulin A Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Episcleritis, Skin rash, Infectious encephalitis, Pustul... ORPHA:761
Spondyloocular Syndrome
Osteopenia, Abnormality of the dentition, Low posterior hairline, Femur fracture, Thin bony corte... OMIM:605822
Behcet Syndrome
Genital ulcers, Iridocyclitis, Raynaud phenomenon, Arthritis, Erythema nodosum, Epididymitis, Iritis OMIM:109650
Amed Syndrome, Digenic
Failure to thrive, Persistent left superior vena cava, Attention deficit hyperactivity disorder, ... OMIM:619151
Leptospirosis
Uveitis, Diarrhea, Hypotension, Hepatitis, Pulmonary hemorrhage, Pleural effusion, Skin rash, Rha... ORPHA:509
Ileal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Arrh... ORPHA:100078
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Acute Liver Failure
Gastrointestinal hemorrhage, Vomiting, Diarrhea, Hepatitis, Hypotension, Seizure, Shock, Hypoglyc... ORPHA:90062
Dermatomyositis
Cellulitis, Abnormal eosinophil morphology, Lung adenocarcinoma, Arrhythmia, Dysphagia, Vasculiti... ORPHA:221
Congenital Disorder Of Glycosylation, Type Iim
Recurrent infections, Thick eyebrow, Open mouth, Exaggerated cupid's bow, Short philtrum, Fused t... OMIM:300896
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Recurrent otitis media, Situs inversus t... OMIM:615067
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Postnatal growth retardation, Cryptorchidism, Ventricular septal defect, B... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Postnatal growth retardation, Cryptorchidism, Ventricular septal defect, B... ORPHA:353277
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cerebral cortical atrophy, Hypotension, Vomiting, Seizure, Bradycardia, Microcephaly, Pulmonary a... OMIM:277400
Cystinosis, Nephropathic
Polydipsia, Rickets, Skeletal muscle atrophy, Glycosuria, Exocrine pancreatic insufficiency, Cere... OMIM:219800
Pde4D Haploinsufficiency Syndrome
Hypotension, Seizure, Joint hypermobility ORPHA:439822
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, ... OMIM:617321
Inhalational Anthrax
Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomen... ORPHA:247257
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy ORPHA:314404
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Recurrent candida infections OMIM:201100
Perry Syndrome
Hypotension ORPHA:178509
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Chorioretinal coloboma, Remnants of the hyaloid vascular system ORPHA:231736
Atelis Syndrome 2
Vitreous hemorrhage, Thrombocytopenia, Remnants of the hyaloid vascular system, Anemia, Supravalv... OMIM:620185
Erythrocytosis, Familial, 2
Hypotension, Increased hematocrit, Increased red blood cell mass, Increased circulating hemoglobi... OMIM:263400
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Eczematoid dermatitis, Postnatal... ORPHA:83617
Thrombocytopenia-Absent Radius Syndrome
Dilatation of the renal pelvis, Horseshoe kidney, Tetralogy of Fallot, Hepatosplenomegaly, Atriov... OMIM:274000
Vascular Ehlers-Danlos Syndrome
Periodontitis, Uterine rupture, Cryptorchidism, Mitral valve prolapse, Hypospadias, Pulmonary art... ORPHA:286
Focal Dermal Hypoplasia
Dental malocclusion, Delayed eruption of teeth, Cleft upper lip, Supernumerary nipple, Nail dystr... OMIM:305600
Congenital Disorder Of Glycosylation, Type Im
Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Dilated cardio... OMIM:610768
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Skin rash, Esophageal neoplasm, Neoplasm of t... ORPHA:44890
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Autosomal Dominant Hypocalcemia
Hypotension, Eczematoid dermatitis, Congestive heart failure, Arrhythmia, Cortical myoclonus, Red... ORPHA:428
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Atypical scarring of skin, Periodontitis, Camptod... ORPHA:2908
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension, Rhabdomyolysis OMIM:145600
Viss Syndrome
Atopic dermatitis, Eczematoid dermatitis, Failure to thrive, Increased circulating IgE level, Chr... OMIM:619472
Sapho Syndrome
Vasculitis, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin ras... ORPHA:793
Seckel Syndrome 7
Hypoplasia of the uterus, Central hypothyroidism, Primary amenorrhea OMIM:614851
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Renal agenesis, Azoospermia, Hypoplasia of the uterus, Bicornuate uter... OMIM:601076
46,Xx Sex Reversal 2
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Eleva... OMIM:278850
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... ORPHA:3130
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Clitoral hypertrophy, Histiocytoid cardiomyopathy, Ventricular se... OMIM:309801
Late-Onset Familial Hypoaldosteronism
Hypotension, Vomiting, Orthostatic hypotension ORPHA:556037
Weill-Marchesani Syndrome 2
Tooth malposition, Hypoplasia of the maxilla, Narrow palate, Elbow flexion contracture, Abnormal ... OMIM:608328
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight, Eczematoid dermatitis ORPHA:64745
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ... OMIM:266810
Early-Onset Familial Hypoaldosteronism
Hypotension, Vomiting, Orthostatic hypotension ORPHA:556030
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Hemorrhage of the eye, Tractional retinal detachme... ORPHA:91495
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Sotos Syndrome
Small cell lung carcinoma, Aplasia/Hypoplasia of the corpus callosum, Hip contracture, Ventricula... ORPHA:821
Zollinger-Ellison Syndrome
Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi... ORPHA:913
Corticosteroid-Binding Globulin Deficiency
Anemia, Hypotension, Hypertension OMIM:611489
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Witteveen-Kolk Syndrome
Gastroesophageal reflux, Eczematoid dermatitis, Seizure, Cortical dysplasia, Glue ear, Congenital... OMIM:613406
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Hypotension, Vomiting OMIM:177735
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis, Elevated circulating C-reac... ORPHA:79099
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... OMIM:277000
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Tetralogy of Fallot, Aplasia of the uterus, Abnormality of the kidney, Axial ma... ORPHA:3320
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Vomiting OMIM:203400
Renal Tubular Dysgenesis
Microcephaly, Hypotension, Pulmonary hypoplasia OMIM:267430
Perlman Syndrome
Interrupted aortic arch, Renal hamartoma, Hypoglycemia, Nephroblastomatosis, Nephrogenic rest, La... OMIM:267000
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent aspiration pneumonia, Atypical scarring of skin, Septic arthritis, Fasciitis, Osteomyel... ORPHA:642
Progeroid Short Stature With Pigmented Nevi
Allergic rhinitis, Allergic conjunctivitis, Recurrent viral infections, Impaired T cell function OMIM:176690
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Inflammatory abnormality of the skin, Recurrent skin inf... ORPHA:94059
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Pneumonia, Atypical scarring of skin, Sepsis, Inflammatory abnormality... ORPHA:95455
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Hypertrichosis, Sclerosis of skull base, Malar flattening, Thick... OMIM:269150
Okamoto Syndrome
Aortic valve stenosis, Urinary incontinence, Gastroesophageal reflux, Abnormal heart morphology, ... ORPHA:2729
Exstrophy-Epispadias Complex
Abnormality of the ureter, Cryptorchidism, Abnormality of the kidney, Urinary incontinence, Renal... ORPHA:322
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal nonattachment, Hyphema, Remnants of the hyaloid vascular system, Retinal fold, Uveitis OMIM:221900
Alpha-1-Antitrypsin Deficiency
Bronchitis, Hepatitis, Emphysema, Panniculitis, Bronchiectasis ORPHA:60
Fragile X-Associated Tremor/Ataxia Syndrome
Cerebral cortical atrophy, Hypotension, Hypertension, Compulsive behaviors, Dysphagia, Bowel inco... ORPHA:93256
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Delayed puberty, Hyperlipidemia, Calcinosis ORPHA:90154
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Nail dystrophy, Oral mucosal blisters ORPHA:79403
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Rickets, Generalized non-motor (absence) seizure, Osteomalacia, Seizure, Epileptic sp... ORPHA:2636
Loeys-Dietz Syndrome
Arterial dissection, Aortic dissection, Uterine rupture, Arterial tortuosity, Tall stature, Aorti... ORPHA:60030
Neuroendocrine Neoplasm Of Appendix
Hypotension, Protracted diarrhea, Palpitations, Mechanical ileus, Constipation, Anorexia, Heart m... ORPHA:100079
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pulmonary artery dilatation, Tricuspid regurgitation, Emphysema, Conge... OMIM:614437
Meier-Gorlin Syndrome 1
Joint contracture of the hand, Gastroesophageal reflux, Emphysema, Joint hypermobility, Microceph... OMIM:224690
Blau Syndrome
Posterior uveitis, Keratitis, Camptodactyly of finger, Large vessel vasculitis, Clear cell renal ... ORPHA:90340
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Arthralgia, Hyperlipidemia ORPHA:90153
Craniotubular Dysplasia, Ikegawa Type
Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion, Sclerosis of skull base, Thi... OMIM:619727
Patent Urachus
Recurrent gram-negative bacterial infections, Cystocele, Recurrent urinary tract infections ORPHA:431341
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal dysplasia, Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypop... OMIM:614643
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased glomerular filtration rate, Renal ... OMIM:614748
Norrie Disease
Self-injurious behavior, Cerebral cortical atrophy, Uterine rupture, Failure to thrive, Cryptorch... ORPHA:649
Knobloch Syndrome 2
Recurrent respiratory infections, Micrognathia, Enamel hypoplasia OMIM:618458
Primary Fanconi Renotubular Syndrome
Glycosuria, Hypoglycemia, Osteomalacia, Hypophosphatemic rickets, Increased susceptibility to fra... ORPHA:3337
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Attention ... OMIM:617914
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Cheilitis, Lymphadenopathy ORPHA:2483
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Testicular Agenesis
Decreased serum testosterone concentration, Absent testis, Vanishing testis, Increased circulatin... ORPHA:325124
Pallister-Killian Syndrome
Supernumerary nipple, Micrognathia, Cryptorchidism, Sparse eyelashes, Everted lower lip vermilion... OMIM:601803
Genitourinary And/Or Brain Malformation Syndrome
Polymicrogyria, Secondary microcephaly, Joint stiffness, Absent septum pellucidum, Agenesis of co... OMIM:618820
Exercise-Induced Malignant Hyperthermia
Hypotension, Vomiting, Abnormal pulse pressure, Sinus tachycardia, Seizure, Abnormal T-wave, Rhab... ORPHA:466650
Wolf-Hirschhorn Syndrome
Precocious puberty, Accessory spleen, Gastroesophageal reflux, Failure to thrive, Cryptorchidism,... OMIM:194190
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension OMIM:620125
White-Kernohan Syndrome
Gastroesophageal reflux, Recurrent otitis media, Joint hypermobility, Dysplastic corpus callosum,... OMIM:619426
Peters Plus Syndrome
Hypoplastic left heart, Cerebral cortical atrophy, Multicystic kidney dysplasia, Postnatal growth... ORPHA:709
Hereditary Angioedema Type 1
Hypotension, Vomiting, Diarrhea, Nausea, Dysphagia ORPHA:100050
Familial Hypoaldosteronism
Hypotension, Diarrhea, Orthostatic hypotension, Hypovolemia ORPHA:427
Meier-Gorlin Syndrome 6
Gastroesophageal reflux, Emphysema, Tracheobronchomalacia, Microcephaly, Recurrent respiratory in... OMIM:616835
Lacrimoauriculodentodigital Syndrome 1
Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Delayed eruption of primary teeth, Microdon... OMIM:149730
Orotic Aciduria
Impaired T cell function OMIM:258900
Keppen-Lubinsky Syndrome
Recurrent pneumonia, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcu... OMIM:614098
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension, Vomiting, Neonatal hypoglycemia ORPHA:90791
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal hypoplasia, Urethral valve, Gastroesophageal reflux, Bifid sc... OMIM:107480
Meier-Gorlin Syndrome 4
Emphysema, Microcephaly OMIM:613804
Lumbar Syndrome
Renal agenesis, Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Renal duplication, Hypoplas... ORPHA:83628
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Delayed puberty,... OMIM:615866
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Remnants of the hyaloid vascular system, Joint hypermobility ORPHA:2714
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Hyperactivity, Hypoplast... ORPHA:457284
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Renal hypoplasia, Hydroureter, Tetralogy of Fallot, Postnatal growth retard... OMIM:135900
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Uterus didelphys, Cryptorchidism, Congenital hepatic fibrosis, Hydronephrosis, ... ORPHA:93271
Meckel Syndrome 12
Renal hypoplasia, Bilateral renal agenesis, Vaginal atresia, Hypoplasia of the uterus, Ureteral h... OMIM:616258
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Ambiguous genitalia, female, Absent sc... OMIM:258040
Microphthalmia, Syndromic 2
Aortic valve stenosis, Contracture of the proximal interphalangeal joint of the 2nd toe, Decrease... OMIM:300166
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Limb-Mammary Syndrome
Psoriasiform dermatitis, Aplasia of the ovary, Chronic irritative conjunctivitis, Aplasia of the ... ORPHA:69085
Peters-Plus Syndrome
Renal hypoplasia, Cerebral atrophy, Postnatal growth retardation, Cryptorchidism, Biliary tract a... OMIM:261540
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, Attention deficit hyperactivi... OMIM:614083
Neu-Laxova Syndrome 1
Renal agenesis, Brain atrophy, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, T... OMIM:256520
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Aplasia of the vagina, Hydronephrosis, Aplasia of the uterus, Urethral... OMIM:271520
Townes-Brocks Syndrome 2
Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Full Nf2-Related Schwannomatosis
Epiretinal membrane, Abnormal optic nerve morphology, Retinal hamartoma, Remnants of the hyaloid ... ORPHA:637
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal vagina morphology, Complete atrioventricular canal defect, Ventricular... OMIM:236680
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Bartter Syndrome, Type 3
Hypotension OMIM:607364
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Neuroocular Syndrome 1
Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Hyperextensibility of the finge... OMIM:619539
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypospadias OMIM:276820
Holoprosencephaly 2
Chorioretinal coloboma, Remnants of the hyaloid vascular system OMIM:157170

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nos2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nos2.

No publications found that use IMPC mice or data for Nos2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Nos2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Nos2tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Nos2em1(IMPC)Bay Exon Deletion Mice
Nos2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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