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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 4.21×10-08
decreased thigmotaxis Nos2em1(IMPC)Bay HOM Early adult 9.03×10-05

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

7 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

7 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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Eye Morphology

VIP of right eye

15 Images

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Eye Morphology

VIP of left eye

15 Images

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Eye Morphology

VIP of right fundus

14 Images

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X-ray

XRay Images Skull Lateral Orientation

7 Images

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X-ray

XRay Images Forepaw

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
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Uridine-Cytidineuria
Elevated urinary uridine level, Elevated urinary cytidine OMIM:618477
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Hashimoto Thyroiditis
Autoimmune antibody positivity, Hashimoto thyroiditis OMIM:140300
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Immunodeficiency 18
Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation, Recurre... OMIM:615615
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Chest pain, Hypercholesterolemia... OMIM:608320
Pparg-Related Familial Partial Lipodystrophy
Dysmenorrhea, Maternal diabetes, Prominent veins on trunk, Hepatic steatosis, Hepatomegaly, Insul... ORPHA:79083
Immunodeficiency 24
Decreased circulating IgG level, Recurrent viral infections, Severe varicella zoster infection, S... OMIM:615897
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Dysmenorrhea, Precocious at... ORPHA:280365
Systemic Lupus Erythematosus 16
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... OMIM:614420
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Irregula... OMIM:615238
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Sudden cardiac death, Myocardial infarction, Go... OMIM:610947
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ov... ORPHA:280356
Dentin Dysplasia
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Alstrom Syndrome
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... OMIM:203800
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Reactive hypoglycemia, Episod... ORPHA:324575
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Glomerulo... ORPHA:2348
Trichodentoosseous Syndrome
Increased bone mineral density, Abnormal hair morphology, Taurodontia, Widely spaced teeth, Micro... OMIM:190320
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition OMIM:125440
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Excessive insulin response to glucagon test, Large for gestational age... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Excessive insulin response to glucagon test, Maternal diabetes, Large ... ORPHA:276580
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent ear infections, Recurrent pneumonia, Recurrent upper respirator... OMIM:614962
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycys... ORPHA:79084
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Abnormality of the kidney, Proteinuria... ORPHA:369
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy... OMIM:613953
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla... OMIM:619386
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Large for gestational age, Reactive hypoglycemia, Episodic hyperhidros... ORPHA:276556
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Dysmenorrhea, Increased body weight, Hepatic ... ORPHA:264580
Preeclampsia
Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Abnormality ... ORPHA:275555
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Decreased... ORPHA:435660
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Exercise intolerance, Diabetes mellitus, Hypertrigly... OMIM:610717
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... ORPHA:435651
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... ORPHA:79085
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... OMIM:242870
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Acne, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hypera... ORPHA:3000
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Complement Component C1S Deficiency
Hashimoto thyroiditis, Systemic lupus erythematosus OMIM:613783
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Immunodeficiency 66
Recurrent skin infections, Pustule, Sepsis, Defective T cell proliferation, Meningitis OMIM:618847
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hyperinsulinemia, Obesity, Polyphagia, Hypertension, Type II diabetes melli... ORPHA:71529
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Mater... OMIM:604367
Hyperostosis Corticalis Generalisata
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyp... ORPHA:3416
Mannose-Binding Lectin Deficiency
Recurrent herpes, Failure to thrive, Recurrent skin infections, Recurrent meningococcal disease, ... OMIM:614372
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro... OMIM:278000
C1Q Deficiency 1
Autoimmunity, Systemic lupus erythematosus OMIM:613652
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Recurrent fractures, Increased circulating gonadotropin level, Ab... ORPHA:2410
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Osteoporosis OMIM:233300
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... OMIM:619220
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the... OMIM:243700
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... OMIM:232700
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Increased T cell count, Increased circulating IgG level, Inflammation of the large in... ORPHA:98813
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density, Diabetes mellitus OMIM:602475
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent bacterial infections, Neutropenia, Recurrent otitis m... OMIM:616022
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, Dysmenorrhea, Increased... ORPHA:79240
Post-Traumatic Pituitary Deficiency
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... ORPHA:95619
Congenital Generalized Lipodystrophy
Hepatomegaly, Prominent superficial veins, Hypertriglyceridemia, Diabetes mellitus, Precocious pu... ORPHA:528
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Elevated transferrin satur... OMIM:613313
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Prominent superficial veins, Hypertriglyceridemia, Acute pancreatitis, Insulin-resi... OMIM:608600
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... ORPHA:572
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Torus palatinus, Cl... ORPHA:2790
Immunodeficiency 95
Recurrent respiratory infections, Decreased circulating IgG3 level, Recurrent viral upper respira... OMIM:619773
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein ... OMIM:273800
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Hypoglycemia, Elevated circ... OMIM:232400
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Caudate atrophy, Tremor, Insulin resistance, H... ORPHA:363400
Flynn-Aird Syndrome
Alopecia, Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased... OMIM:136300
Dysbetalipoproteinemia
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyce... ORPHA:412
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Proteinuria, Tremor, Cryptorchidism, Arterial stenosis, Cerebra... ORPHA:1192
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Severe vari... OMIM:300853
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Tremor, Hypoalbuminemia, Hepatic f... ORPHA:247585
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, T lymphocytopenia, Increased circulatin... ORPHA:169154
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Hepat... OMIM:151660
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Recurrent infections, Eczema, Reduced natural killer cell activity OMIM:614493
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... ORPHA:79319
Immunodeficiency, Common Variable, 1
Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropen... OMIM:607594
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... OMIM:619130
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Post-vaccination polio, Recurrent otitis media, Recurrent infections OMIM:616941
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... ORPHA:2235
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Eales Disease
Peripheral retinal neovascularization, Anterior uveitis, Rhegmatogenous retinal detachment, Trans... ORPHA:40923
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... ORPHA:139507
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Decreased specific pneumococcal antibody level, Glomerulonephri... OMIM:613496
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Eczema, Increased level of hippuric acid in urine, Cerebellar hemorrh... OMIM:606054
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Prolonged bleeding time, Epistaxis, Myocardial infarction, Abnormalit... OMIM:155100
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Impaired ... ORPHA:849
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... OMIM:608106
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Diabetes mellitus, Increased circulating ferritin concentration, E... ORPHA:79230
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Hypothyroidism, Congenital, Nongoitrous, 8
Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro... OMIM:301033
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Hepatic failure, Elevated circulating... OMIM:617872
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Patchy alopecia, Nail dystrophy, H... OMIM:226650
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Normocytic anemia, Retinal cotton wool spot, Skin rash, Pneumonia, P... ORPHA:247691
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Elevated circulati... ORPHA:180229
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induce... OMIM:619267
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Skin rash, Recurrent viral infections, Recurrent mycobacterial i... ORPHA:275
Pyle Disease
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... OMIM:265900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Anorexia, Abdominal pain, Splenomegaly, Hyperammonemia, Choreo... ORPHA:79312
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Immunodeficiency, Common Variable, 2
Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Co... OMIM:240500
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Increased bone mineral density, Craniosynostosis ORPHA:178377
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Precocious atherosclerosis, Gluco... OMIM:145750
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Abdominal colic, Diabetes mellitus, Liver abscess, Cholangitis, Ov... ORPHA:69663
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Non-Hodgkin lymphoma, Recurrent staphylococcal infections, Lymphaden... ORPHA:331235
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hypertension, Stro... OMIM:613877
Gnathodiaphyseal Dysplasia
Osteopenia, Broad jaw, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones ORPHA:53697
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... OMIM:310350
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Rec... OMIM:610163
Tricho-Dento-Osseous Syndrome
Abnormal hair quantity, Increased bone mineral density, Dental enamel pits, Periapical tooth absc... ORPHA:3352
Abdominal Obesity-Metabolic Syndrome 4
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Eleva... OMIM:618620
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent urinary tract infections, Chronic lymphocytic meningitis, Cholangitis,... OMIM:209920
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy... ORPHA:329249
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Hereditary Sensory And Autonomic Neuropathy Type 2
Osteolysis, Foot acroosteolysis, Hyperhidrosis, Reduced bone mineral density, Abnormal cortical b... ORPHA:970
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Dentinogenesis imperfecta, Osteoporosis, Short philtrum ORPHA:71267
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Self-mutilation... OMIM:619487
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Acne, Abnormality of the endocrine system, Abnormality of the thyroid gland, O... ORPHA:77296
Vitreoretinopathy, Neovascular Inflammatory
Retinal detachment, Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Uv... OMIM:193235
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... ORPHA:54370
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Increa... ORPHA:443811
Anterior Cutaneous Nerve Entrapment Syndrome
Back pain, Recurrent urinary tract infections, Anorexia, Abdominal pain, Hyperhidrosis, Allodynia... ORPHA:51890
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Schimke Immuno-Osseous Dysplasia
Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephritis, Ischemic stroke, Sta... ORPHA:1830
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Glutaric aciduria, 3-Methylglutaric aciduria,... ORPHA:26791
Seckel Syndrome 10
Ventricular hypertrophy, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated he... OMIM:617253
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepa... ORPHA:79259
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Functioning Gonadotropic Adenoma
Osteopenia, Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, ... ORPHA:91348
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Foam cells with lamellar inclusion bodies,... OMIM:607616
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating deoxyuridine concentration, Gastroparesis, Cachexia, Abdominal pain, Diarrhe... OMIM:603041
Platelet Signal Processing Defect
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... OMIM:173590
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Recurrent fractures, Vitreous floaters, ... OMIM:133780
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Myocardial infarction, Premature coronary artery atheros... OMIM:604091
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Reduced systolic function, Failure to thrive in infancy, Dilated cardiomyopathy, Ch... OMIM:618805
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating enzyme concentration or activity, Elevated circulating thyroid-stimulating h... ORPHA:171706
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Recurrent sinopulmonary infections, Skin rash, Recurrent fractures, Craniosynostosis,... OMIM:147060
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Diarrhea, Hepatic failure, Steatorrhea, Renal cyst, Proximal tubulopathy, Hypoalbum... OMIM:602579
Phenylketonuria
Aminoaciduria ORPHA:716
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Diarrhea, Arte... ORPHA:75234
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility, Dentinogene... ORPHA:166277
Aapoaiv Amyloidosis
Back pain, Left bundle branch block, Sinus bradycardia, Elevated circulating creatinine concentra... ORPHA:439232
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod... OMIM:615206
Neonatal Hemochromatosis
Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Abnormal... ORPHA:446
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Hypotension, Attention deficit hyperactivity diso... ORPHA:369873
Stxbp1-Related Encephalopathy
Hyperactivity, Cerebral white matter atrophy, Epileptic spasm, Bilateral tonic-clonic seizure wit... ORPHA:599373
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Bone-marrow foam cells, Precocious atherosclerosis, Renal salt wasting, Mi... ORPHA:275761
Insulinoma
Nonketotic hypoglycemia, Fatigue, Reactive hypoglycemia, Tremor, Abnormality of the pancreatic is... ORPHA:97279
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ... ORPHA:183675
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... OMIM:300988
Werner Syndrome
Renal neoplasm, Telangiectasia of the skin, Myocardial infarction, Abnormal cerebral vascular mor... ORPHA:902
Extracranial Carotid Artery Aneurysm
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ... ORPHA:494424
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral density, Decreased circula... OMIM:619795
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Mandibular pain, Osteopetrosis, Torus palatinus, Calvarial osteoscler... OMIM:607634
Cach Syndrome
Cerebellar atrophy, Premature ovarian insufficiency, Atrophy/Degeneration affecting the brainstem... ORPHA:135
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Stage 5 chronic kidney... OMIM:251000
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Insulin resistance, Insulin-... ORPHA:79086
Galactokinase Deficiency
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Premature ovarian insufficie... ORPHA:79237
Temple Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Postna... ORPHA:254516
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Osteoporosis, Decreased serum estradiol, Elevated... OMIM:618187
Diarrhea 13
Elevated hepatic transaminase, Secretory diarrhea, Recurrent hypoglycemia, Hypoalbuminemia, Vomit... OMIM:620357
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... ORPHA:500166
Histiocytosis, Familial Lipochrome
Recurrent infections, Increased circulating antibody level, Histiocytosis OMIM:235900
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... ORPHA:911
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... OMIM:613752
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Hypothyroidism,... OMIM:606367
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Angina pectoris, Elevated ... ORPHA:565612
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Vomiting, Gastroesophageal... ORPHA:85450
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Immunodeficiency 23
Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG... OMIM:615816
47,Xyy Syndrome
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Increased circulating ... ORPHA:8
Acquired Aneurysmal Subarachnoid Hemorrhage
Impairment of activities of daily living, Hypopituitarism, Left ventricular hypertrophy, Myocardi... ORPHA:90065
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Neonatal sepsis, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia... ORPHA:90790
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Incr... ORPHA:2688
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Intermediate Osteopetrosis
Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o... ORPHA:210110
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Congestive heart fa... ORPHA:3077
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Pan... OMIM:615214
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... OMIM:619111
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... OMIM:301082
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Abdominal pain, Recurrent pancreatitis, Type II diabetes melli... OMIM:619290
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... OMIM:608184
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections... OMIM:618495
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Skin... OMIM:300400
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Tremor, Increased body weight, Hyperhidrosis, Renal Fanconi syndrome, ... ORPHA:263455
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Complement Component 7 Deficiency
Decreased circulating complement C7 concentration, Recurrent Neisserial infections, Recurrent men... OMIM:610102
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Recurrent viral infections, Impa... OMIM:617443
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Proteinuria, Hyperlipidemia, Delayed p... OMIM:232200
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna... OMIM:613849
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis... OMIM:122860
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Torus palatinus, Cl... OMIM:144750
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction OMIM:108725
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,... OMIM:615468
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Microscopic hematur... ORPHA:567544
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated... OMIM:201475
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Lymphopenia, Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract... OMIM:613179
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Hyperextensibility at e... OMIM:610967
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Cerebellar atrophy, Postural tremor, Corpus callosum atrophy, Hypothyroidism, Iridocyclitis, Hand... ORPHA:412057
Complement Component 6 Deficiency
Decreased circulating complement C6 concentration, Reduced hemolytic complement activity, Recurre... OMIM:612446
Legionnaires Disease
Anorexia, Arthralgia, Infectious encephalitis, Hyponatremia, Fatigue, Abdominal pain, Hepatitis, ... ORPHA:549
Congenital Disorder Of Glycosylation, Type Ia
Tremor, Renal cyst, Hypoalbuminemia, Hepatic fibrosis, Vomiting, Hypocholesterolemia, Hepatic ste... OMIM:212065
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Tremor, Cerebral atrophy, Dystonia, Neuronal l... OMIM:615924
Senior-Boichis Syndrome
Diffuse cerebral atrophy, Thickening of the tubular basement membrane, Hepatic fibrosis, Portal h... ORPHA:84081
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ... OMIM:245900
Al Amyloidosis
Increased circulating NT-proBNP concentration, Xerostomia, Abnormality of the liver, Hypoalbumine... ORPHA:85443
Hermansky-Pudlak Syndrome 9
Recurrent skin infections, Thrombocytopenia, Ocular albinism, Abnormal platelet aggregation, Leuk... OMIM:614171
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... OMIM:607624
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Hypoglycemic se... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Hypoglycemic se... ORPHA:71526
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbumin... ORPHA:2298
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Precocious atherosclerosis, Pulmonar... ORPHA:444490
Immunodeficiency 62
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respir... OMIM:618459
Gaisböck Syndrome
Myocardial infarction, Nephrocalcinosis, Increased circulating renin level, Cholecystitis, Fatigu... ORPHA:90041
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Increased circulating ... OMIM:618048
Cholesterol-Ester Transfer Protein Deficiency
Precocious atherosclerosis, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholest... ORPHA:79506
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Abdominal pain, Diarrhea, Hyperammonemia, Vomiting, Pancreatitis OMIM:620137
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Primary ... OMIM:612526
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Decreased lympho... OMIM:603909
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Fragile X Syndrome
Sinusitis, Self-injurious behavior, Otitis media, Attention deficit hyperactivity disorder, Macro... ORPHA:908
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Weight loss, Hepatospleno... OMIM:209950
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Chronic oral candidiasis, Recurrent herpes, Pneumonia, Eosinophi... ORPHA:169160
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... OMIM:601859
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Tegumentary leishmaniasis susceptibility, Lymphadenitis, Recurrent mycobacterial infec... ORPHA:319552
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Mccune-Albright Syndrome
Hyperthyroidism, Precocious puberty, Hepatitis, Ovarian cyst, Increased circulating cortisol leve... ORPHA:562
Lipodystrophy, Congenital Generalized, Type 2
Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Acute pancreatitis, Elevated hemo... OMIM:269700
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Impaired collagen-induced platelet a... OMIM:614201
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con... OMIM:613759
Perrault Syndrome 1
High palate, Increased circulating gonadotropin level, Osteoporosis OMIM:233400
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elev... OMIM:613327
Cernunnos-Xlf Deficiency
Recurrent viral infections, Decreased circulating antibody level, Anemia, T lymphocytopenia, Recu... ORPHA:169079
Alg1-Cdg
Cerebellar atrophy, Renal insufficiency, Abnormality of the kidney, Chronic diarrhea, Cerebral at... ORPHA:79327
Fragile X Syndrome
Macroorchidism, postpubertal, Hyperactivity, Self-biting, Recurrent hand flapping, Congenital mac... OMIM:300624
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function OMIM:267500
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombocytopenia ORPHA:231393
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... OMIM:619855
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... OMIM:231100
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia, Type II diabetes mellitus OMIM:246650
Flynn-Aird Syndrome
Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes melli... ORPHA:2047
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Hypertriglycer... OMIM:608594
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Hip contracture, Microretrognathia, Micrognathia, Carious teeth, Pierre-Ro... OMIM:618363
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration, Atherosclerosis OMIM:603813
Hall-Riggs Syndrome
Thick lower lip vermilion, Osteoporosis, Microdontia of primary teeth, Hypoplasia of the primary ... OMIM:234250
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Recurrent opportunistic infections, Increased ci... ORPHA:277
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne... OMIM:614868
Ane Syndrome
Alopecia, Multiple joint contractures, Hypogonadotropic hypogonadism, Decreased response to growt... ORPHA:157954
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton... OMIM:613779
Neurotrophic Keratopathy
Anterior uveitis, Diabetes mellitus, Allodynia ORPHA:137596
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Dopamine Beta-Hydroxylase Deficiency
Fatigue, Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Diarrhea, Eleva... ORPHA:230
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections... ORPHA:486
Familial Expansile Osteolysis
Osteolysis, Pathologic fracture, Premature loss of teeth, Thin bony cortex, Fragile teeth OMIM:174810
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal inflammation, Chron... OMIM:619858
Splenoportal Vascular Anomalies
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... OMIM:271500
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia ORPHA:1802
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Pancreatic fibrosis, Proteinuria, Sple... OMIM:232220
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Stage 5 chronic kidney dis... OMIM:615993
Relapsing Fever
Elevated hepatic transaminase, Fatigue, Tachycardia, Increased circulating lactate dehydrogenase ... ORPHA:91547
Senior-Loken Syndrome
Premature ovarian insufficiency, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chr... ORPHA:3156
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure OMIM:300886
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Carious teeth, Hypohidrosis, Thick vermilion border, Enamel hyp... ORPHA:363523
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis, Decreased circulating complement C8 concentration OMIM:613789
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Vomiting,... OMIM:608836
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight... OMIM:616222
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Patent ductus arteriosus, Diarrhea, Elevated circulating creatinine... OMIM:608104
Aceruloplasminemia
Abnormal circulating enzyme concentration or activity, Torticollis, Decreased circulating cerulop... ORPHA:48818
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Atrial septal defect, Vesi... OMIM:301068
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Secondary Short Bowel Syndrome
Diarrhea, Low plasma citrulline, Abnormal blood ion concentration, Enterocolitis, Weight loss, Ch... ORPHA:95427
Primary Sclerosing Cholangitis
Acute hepatic failure, Spider hemangioma, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of... ORPHA:171
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Enamel hypoplasia, Osteoporosis, Pseudohypoparathyroidism OMIM:612463
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Marburg Hemorrhagic Fever
Back pain, Elevated circulating creatine kinase concentration, Anorexia, Uveitis, Bloody diarrhea... ORPHA:99826
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Type IV athe... OMIM:144300
Complement Factor D Deficiency
Recurrent bacterial infections, Partial functional complement factor D deficiency OMIM:613912
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Small for gestational age, Hypoglycemia, Elevated circulating aspar... OMIM:617093
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic sy... ORPHA:84090
Shaheen Syndrome
Carious teeth, Enamel hypoplasia, Hypohidrosis OMIM:615328
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Ventricular septal defect, Splenomegaly, Chronic kidney... OMIM:615630
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia OMIM:618406
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Partington Syndrome
Macroorchidism, Facial telangiectasia ORPHA:94083
Osteogenesis Imperfecta, Type Xix
Osteopenia, Recurrent fractures, Multiple prenatal fractures, Dentinogenesis imperfecta, Joint hy... OMIM:301014
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein... OMIM:251880
Autoinflammation With Infantile Enterocolitis
Fatigue, Skin rash, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemor... OMIM:616050
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Vomiting, ... ORPHA:53035
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Hyperactivity, Impulsivity OMIM:300143
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fatigue, Tachycardia, Reactive hypoglycemia, Tremor, Hyperinsulinemia, Increased body weight, Hyp... ORPHA:276608
Complement Factor H Deficiency
Chronic kidney disease, Thickened glomerular basement membrane, Hematuria, Depletion of component... OMIM:609814
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Persistent CMV viremia, Splenomegaly, Recurrent upper respirator... OMIM:616005
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Granulomatosis With Polyangiitis
Sinusitis, Elevated circulating C-reactive protein concentration, Arthralgia, Otitis media, Chron... ORPHA:900
Pediatric-Onset Graves Disease
Tremor, Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Increased circulating T4 concentration... ORPHA:525731
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Anorexia, Flank pain, Large vessel vasculi... ORPHA:49041
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
X-Linked Intellectual Disability, Van Esch Type
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Cryptorchidism, Incre... ORPHA:163976
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... ORPHA:758
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Neutrope... OMIM:601495
Trigeminal Neuralgia
Trigeminal neuralgia, Ocular pain, Vascular tortuosity, Mandibular pain, Allodynia ORPHA:221091
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Osteopetrosis, Pathologi... OMIM:620366
Laurence-Moon Syndrome
Hypoplasia of penis, Renal insufficiency, Congenital hepatic fibrosis, Cryptorchidism, Obesity, T... ORPHA:2377
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss, Type I diabetes mellitus, Abnormal circulating lipid concentration, Hyperl... ORPHA:1979
Scorpion Envenomation
Bundle branch block, Increased circulating NT-proBNP concentration, Tremor, Hyperhidrosis, Vomiti... ORPHA:466677
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Fatigue, Precocious atherosclerosis, Adrenal hypoplasia, Mitral valv... ORPHA:230839
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Diabetes mellitus, Maculopapular exanthem... ORPHA:79147
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98793
Mirage Syndrome
Adrenal hypoplasia, Sepsis, Intracranial hemorrhage, Leukopenia, Microphallus, Aspiration pneumon... OMIM:617053
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Recurrent upper respiratory tract infections, Polycystic ovaries... ORPHA:284180
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Epistaxis, Impaired epinephri... OMIM:615888
Donohue Syndrome
Clitoral hypertrophy, Postnatal growth retardation, Precocious puberty, Long penis, Hyperinsuline... OMIM:246200
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:739
Coenzyme Q10 Deficiency, Primary, 8
Small for gestational age, Postnatal growth retardation, Elevated circulating creatinine concentr... OMIM:616733
Alg6-Cdg
Abnormal circulating enzyme concentration or activity, Puberty and gonadal disorders, Jaundice, D... ORPHA:79320
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy, Splenomegaly OMIM:619175
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98754
Analbuminemia
Fatigue, Patent ductus arteriosus, Elevated circulating transferrin concentration, Increased LDL ... OMIM:616000
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177904
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Von Willebrand Disease
Abnormal mitral valve morphology, Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... OMIM:619658
Fanconi-Bickel Syndrome
Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elevated circulating aspartate... ORPHA:2088
Fadd-Related Immunodeficiency
Ventricular septal defect, Cerebral atrophy, Hepatic fibrosis, Decreased liver function, Pulmonar... ORPHA:306550
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177901
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomer... OMIM:603278
Specific Granule Deficiency 2
Osteopenia, Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, R... OMIM:617475
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Elevated hepatic transaminase, Fatigue... ORPHA:20
Central Precocious Puberty In Male
Astrocytoma, Acne, Abnormality of the testis size, Aggressive behavior, Craniopharyngioma, Pituit... ORPHA:649929
Congenital Pancreatic Cyst
Anorexia, Abdominal pain, Jaundice, Vomiting, Pancreatitis ORPHA:313906
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Hypoalbuminem... ORPHA:36234
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Myositis, Failure to thrive, Skin rash, Recurrent respiratory infections, Joint stif... OMIM:615934
Estrogen Resistance Syndrome
Acne, Enlarged polycystic ovaries, Elevated tissue non-specific alkaline phosphatase, Increased c... ORPHA:785
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Dominant Beta-Thalassemia
Arthralgia, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, High-output congestive heart fa... ORPHA:231226
Bloom Syndrome
Recurrent herpes, Severe varicella zoster infection, Adipose tissue loss, Uveitis, Neoplasm, Neop... ORPHA:125
Microscopic Polyangiitis
Sinusitis, Uveitis, Arthralgia, Glomerulopathy, Abdominal pain, Vasculitis, Oliguria, Episcleriti... ORPHA:727
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Aut... OMIM:102700
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Flexion contracture, Bruxism, Macroorchidism, Male hypogonadism, Wrist flexion cont... OMIM:300055
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion OMIM:209050
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia, Premature coronary artery at... OMIM:618666
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... ORPHA:470
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche, Micropenis... ORPHA:398079
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Postnatal growth retardation, Precocious puberty, Obesity, ... ORPHA:254531
17Q11.2 Microduplication Syndrome
Macroorchidism, Enamel hypoplasia, Abnormal dental enamel morphology ORPHA:139474
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Telangiecta... OMIM:615381
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytope... OMIM:226990
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Intracranial hemorrhage, In... ORPHA:906
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Hypoglycemia, Proteinuria, Mesangial hypercell... OMIM:617575
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Myocardial infarction, Abdominal pain, Diarrhea, Abnormal lacta... ORPHA:54057
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Neonatal insuli... ORPHA:1667
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti... OMIM:212050
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Abnormal renal morphology,... OMIM:182290
Huntington Disease
Caudate atrophy, Dystonia, Abnormal libido, Oral-pharyngeal dysphagia, Aggressive behavior, Cereb... ORPHA:399
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Back pain, Torticollis, Metrorrhagia, Elevated carcinoma antigen 125 le... ORPHA:370348
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... OMIM:308240
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Proteinuria, Macrothrombocytopenia, Recurrent bacterial infections, Aminoac... OMIM:603585
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Decreased serum insulin-like growth factor 1, Hyperactivity, Elevated circulating growth hormone ... ORPHA:85327
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia, Abdominal pain OMIM:118830
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Pulmonary embolism, ... ORPHA:567548
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Fatigue, Anorexia, Abdominal pain, Jaundice, Chronic diarrhea, Wei... ORPHA:65682
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... OMIM:615812
Autosomal Dominant Polycystic Kidney Disease
Renal cyst, Abnormal systemic arterial morphology, Decreased glomerular filtration rate, Elevated... ORPHA:730
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Hypertriglyceridemia, Hypoglycemia, Splenom... OMIM:306000
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Seizure, Hypoplasia of the c... OMIM:604213
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Galloway-Mowat Syndrome 6
Cerebellar atrophy, Proteinuria, Decreased response to growth hormone stimulation test, Hypothyro... OMIM:618347
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Myalgia, Palpitations ORPHA:488650
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Immunodeficiency 46
Chronic oral candidiasis, Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Seps... OMIM:616740
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619662
Porphyria Cutanea Tarda
Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato... ORPHA:101330
Immunodeficiency 104
Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candid... OMIM:608971
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, Bowing of lim... OMIM:259440
Mulibrey Nanism
Dental crowding, Absent frontal sinuses, Enamel hypoplasia, Hypoplastic frontal sinuses, Dental m... OMIM:253250
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Eosinophilopenia
Autoimmunity OMIM:131430
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... OMIM:307200
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Homocystinuria, Myocardial infarction, Methioninuria, Hyperhomocystinemia, Mitral valve prolapse,... OMIM:236200
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Hyperchloriduria, Small for gestational age, Polyuria, Renal salt wasting, Increased ... OMIM:241200
Systemic Capillary Leak Syndrome
Fatigue, Pericarditis, Renal insufficiency, Abdominal pain, Myocarditis, Diarrhea, Oliguria, Weig... ORPHA:188
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Myocardial infarction, Mesangial hypercellularity, Parap... ORPHA:91139
Parathyroid Carcinoma
Bone pain, Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Elevated circulating pa... ORPHA:143
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Hypoplasia of penis, Eczema, Cryptorchidism, Aplasia/Hypoplasia of the testes, Hernia of the abdo... ORPHA:3055
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Lymphadenopathy OMIM:616126
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic... ORPHA:436182
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Kerion Celsi
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... ORPHA:499
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fract... OMIM:259710
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Absent platelet dense granules, Prolonged bleeding time, Reduced natura... OMIM:608233
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Increased inflammatory response, Tachycardia, Fatigue, Skin rash, ... ORPHA:542323
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia, Obesity, Overgrowth, Hepatic steatosis OMIM:620195
Immunodeficiency 96
Eczema, Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Re... OMIM:619774
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... OMIM:619281
Transaldolase Deficiency
Hepatomegaly, Small for gestational age, Ventricular septal defect, Splenomegaly, Patent ductus a... OMIM:606003
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... OMIM:618282
Cockayne Syndrome
Urinary incontinence, Retinal arteriolar constriction, Gastroesophageal reflux, Intention tremor,... ORPHA:191
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Bilateral tonic-clonic seizure, Reduced cerebral white matter volume, Dysplastic corpus callosum,... OMIM:620317
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... ORPHA:247598
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Renal insufficiency, Hyperammonemia, Choreoathetosis, Cardiomyopathy, Pancreatitis ORPHA:27
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... OMIM:608957
Late-Onset Junctional Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Hyperhidrosis, Nail dystrophy, Enamel hypoplasia, Anemia ORPHA:79406
Pycnodysostosis
Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Micrognathia, Hy... ORPHA:763
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating complemen... OMIM:615559
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Hyperlipidemia, Diarrhea, Hypoalbuminemia, Vomiting, Hypercholesterolemia, Failu... OMIM:615863
Hypercalciuria, Absorptive, 2
Hypercalciuria, Calcium oxalate nephrolithiasis OMIM:143870
Ck Syndrome
Dental crowding, Micrognathia, Retrognathia, High palate, Malar flattening, Abnormal cortical bon... OMIM:300831
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... OMIM:614699
Melas
Wolff-Parkinson-White syndrome, Vomiting, Nephropathy, Hypothyroidism, Hypoparathyroidism, Hypogo... ORPHA:550
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Gluc... ORPHA:99413
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, Th... OMIM:617388
Mosaic Monosomy X
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Gluc... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Gluc... ORPHA:99226
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Hypotonia-Cystinuria Syndrome
Cystine crystalluria, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul... OMIM:606407
Turner Syndrome
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Gluc... ORPHA:881
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Recu... OMIM:619824
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Beta-Thalassemia Major
Arthralgia, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly, High-output conge... ORPHA:231214
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Portal hypertension, Unilateral renal agen... OMIM:216360
Hyperparathyroidism-Jaw Tumor Syndrome
Bone pain, Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Elevated circulating pa... ORPHA:99880
Postinfectious Vasculitis
Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, B... ORPHA:48435
Spermatogenic Failure, X-Linked, 4
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic... OMIM:301077
Fish-Eye Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Angina pectoris, Splenomegaly, Atheroscler... ORPHA:79292
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, I... OMIM:615285
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Avian Influenza
Elevated hepatic transaminase, Fatigue, Elevated circulating creatine kinase concentration, Eleva... ORPHA:454836
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia, External genital hypoplasia ORPHA:177910
Schimke Immunoosseous Dysplasia
Renal insufficiency, Small for gestational age, Transient ischemic attack, Proteinuria, Bilateral... OMIM:242900
Immunodeficiency 97 With Autoinflammation
Fatigue, Recurrent urinary tract infections, Hypertriglyceridemia, Recurrent skin infections, Ecz... OMIM:619802
Intermediate Generalized Junctional Epidermolysis Bullosa
Oral mucosal blisters, Scarring alopecia of scalp, Nail dystrophy, Enamel hypoplasia, Sparse body... ORPHA:79402
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Tremor, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis,... OMIM:616719
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Bronchiec... OMIM:620282
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Bardet-Biedl Syndrome 1
Diabetes mellitus, Abnormality of the kidney, Nephrogenic diabetes insipidus, Insulin resistance,... OMIM:209900
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis, Hepatic failure, Atherosclerosis, Dysphagia ORPHA:2724
Renal Cysts And Diabetes Syndrome
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnorm... OMIM:137920
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Hyperhidrosis,... ORPHA:99827
Hemochromatosis, Type 4
Fatigue, Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferri... OMIM:606069
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Small for gestational age, Ventricular septal defect, Patent ductus arteriosus,... OMIM:617021
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent urinary tract infect... OMIM:620210
Lujan-Fryns Syndrome
Macroorchidism, Camptodactyly of finger, Attention deficit hyperactivity disorder ORPHA:776
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Choreoathetosis, Dy... ORPHA:289916
Ectodermal Dysplasia-Syndactyly Syndrome 2
Sparse hair, Thin upper lip vermilion, Enamel hypoplasia, Hyperhidrosis OMIM:613576
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Cerebellar atrophy, Dystonia, Abnormal circulating carnitine concentration, Choreoathetosis, Decr... ORPHA:431361
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Back pain, Diffuse cerebral atrophy, Aggressive behavior, Stroke-like episode, Vascular granular ... ORPHA:199354
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Atopic dermatitis, Retinal neovascularization OMIM:619074
Medullary Sponge Kidney
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria ORPHA:1309
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Atkin-Flaitz Syndrome
Macroorchidism ORPHA:1193
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Flexion contracture, Hypoplasia of the corpus callosum, Skeletal musc... OMIM:613162
Microcephalic Primordial Dwarfism, Toriello Type
Downturned corners of mouth, Recurrent respiratory infections, Enamel hypoplasia, Neutropenia ORPHA:2643
Bardet-Biedl Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Obesity, Hypertension, Nephrot... ORPHA:110
Lethal Recessive Chondrodysplasia
Macroglossia, Generalized osteosclerosis, Micrognathia ORPHA:1423
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Abnormality of thrombocytes, ... OMIM:612840
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Failure to thrive, Increased circulating IgE level, Decreased p... OMIM:615767
Transcobalamin Deficiency
Decreased circulating IgG level, Pancytopenia, Methylmalonic aciduria, Decreased circulating anti... ORPHA:859
Activated Pi3K-Delta Syndrome
Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis... ORPHA:397596
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... OMIM:300888
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... OMIM:619146
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... ORPHA:90794
Bone Marrow Failure Syndrome 3
Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Reduced bone mineral density, Do... OMIM:617052
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Overweight, Dilated cardiomyopathy, Renovascular hyp... ORPHA:401923
Mccune-Albright Syndrome
Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm... OMIM:174800
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl... ORPHA:449395
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... OMIM:300845
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Postnatal growth retardation, Cr... ORPHA:96184
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Osteoarthritis,... OMIM:277900
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Abdominal pain, Inflammatory arteriopathy, Permanent ... ORPHA:31825
Acatalasemia
Severe periodontitis, Reduced catalase level, Arteriosclerosis, Type II diabetes mellitus, Type I... ORPHA:926
Mu-Heavy Chain Disease
Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteolysis, Weight lo... ORPHA:100024
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Macroorchidism, Neonatal hyperbilirubinemia, Pituita... ORPHA:90674
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Arrhythmia, Hypertriglyceridemia, Elevated circulating c... OMIM:616516
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... OMIM:618394
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Increased ... OMIM:300635
Hemorrhagic Fever-Renal Syndrome
Back pain, Anuria, Hyperhidrosis, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tu... ORPHA:340
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, Aggressive behavior, Overfriendliness OMIM:618010
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
Hermansky-Pudlak Syndrome 3
Spontaneous, recurrent epistaxis, Impaired platelet aggregation, Abnormal number of dense granules OMIM:614072
Boutonneuse Fever
Renal insufficiency, Skin rash, Maculopapular exanthema, Vasculitis, Leukopenia, Increased circul... ORPHA:83313
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis,... OMIM:619693
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Incre... ORPHA:168558
Schaaf-Yang Syndrome
Impulsivity, Cryptorchidism, Flexion contracture, Hypogonadism, Skin-picking, Camptodactyly, Arth... OMIM:615547
Generalized Pustular Psoriasis
Hyponatremia, Elevated hepatic transaminase, Fatigue, Renal insufficiency, Elevated circulating C... ORPHA:247353
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilat... ORPHA:367
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Lymphadenitis, Abnormality... ORPHA:2552
Dpm1-Cdg
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine ki... ORPHA:79322
Mirizzi Syndrome
Elevated hepatic transaminase, Dark urine, Tachycardia, Abdominal colic, Anorexia, Nausea, Abdomi... ORPHA:521219
Gm1-Gangliosidosis, Type Iii
Diffuse cerebral atrophy, Decreased beta-galactosidase activity, Dystonia, Foam cells OMIM:230650
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... OMIM:615008
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Complex Regional Pain Syndrome
Limb pain, Allodynia ORPHA:83452
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce... OMIM:617638
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Hereditary Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Tachycardia, Failure to thrive in infancy, Elevated c... ORPHA:264675
Laron Syndrome
Hypoplasia of penis, Hypoglycemia, Abnormality of the endocrine system, Osteoarthritis, Hypohidro... ORPHA:633
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Flexion contracture, Clitoral hypoplasia, Compulsive ... ORPHA:398069
Mgat2-Cdg
Osteopenia, Respiratory distress, Impaired lymphocyte transformation with phytohemagglutinin, Gas... ORPHA:79329
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity, Congenital hypothyroidism, Colitis, Hypoalbuminemia ORPHA:88643
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia OMIM:617119
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Recurrent fractures, Carious teeth, Delayed epiphyseal ossification, R... OMIM:277440
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir... OMIM:613095
Mitochondrial Complex I Deficiency, Nuclear Type 8
Axial dystonia, Dystonia, Pancreatitis, Dysphagia OMIM:618230
Adult Acute Respiratory Distress Syndrome
Shock, Pneumonia, Vasculitis, Diabetic ketoacidosis, Hypotension, Pancreatitis ORPHA:70578
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Obesity, Attenuation of retinal bloo... OMIM:615990
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ov... ORPHA:1359
Infection-Related Hemolytic Uremic Syndrome
Anuria, Secretory diarrhea, Bloody diarrhea, Vomiting, Hypocalcemia, Nephrotic range proteinuria,... ORPHA:544482
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Hypergl... OMIM:222100
2Q23.1 Microdeletion Syndrome
Hyperactivity, Hypoplasia of penis, Cryptorchidism, Polyphagia, Self-injurious behavior, Abnormal... ORPHA:228402
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Decreased proportion of CD8-positive T cells, Abnormal oligodendro... ORPHA:217260
Spermatogenic Failure 14
Abnormal prolactin level, Abnormal circulating testosterone concentration, Elevated circulating f... OMIM:615842
Atypical Werner Syndrome
Abnormal cerebral vascular morphology, Fasting hyperinsulinemia, Premature arteriosclerosis, Hype... ORPHA:79474
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... ORPHA:436159
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95513
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Adenohypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... ORPHA:95512
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
46,Xx Gonadal Dysgenesis
Osteopenia, Streak ovary, Sparse pubic hair, Increased circulating gonadotropin level, Reduced bo... ORPHA:243
Cole-Carpenter Syndrome 1
Osteopenia, Recurrent fractures, Micrognathia, Reduced bone mineral density, Microdontia, Coronal... OMIM:112240
Immunodeficiency 84
B-cell lymphoma, Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infe... OMIM:619437
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Retinal vasculitis, Decrea... OMIM:618969
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus, Autoimmune thrombocytopenia ORPHA:444463
Pelizaeus-Merzbacher Disease
Reduction of oligodendroglia, Cerebral dysmyelination, Microcephaly, Congenital laryngeal stridor... OMIM:312080
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... OMIM:231095
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... OMIM:610199
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Skeletal muscle atrophy, Microcephaly, Respiratory insufficiency due to muscle weakness, Dysplast... OMIM:618276
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Acute hepatic failure, Hepatosplenomegaly, Hepatic fibrosis, Cerebellar vermis atrophy, Intention... ORPHA:466794
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... ORPHA:217390
Naegeli-Franceschetti-Jadassohn Syndrome
Anhidrosis, Decreased number of sweat glands, Abnormal dental morphology, Interphalangeal joint c... ORPHA:69087
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... OMIM:616730
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Accelerated atherosclerosis, Hepatic steatosis, Hypertriglyceridemia, Obesity, Cholestasis, Hepat... ORPHA:209902
Coffin-Siris Syndrome 8
Hyperactivity, Inguinal hernia, Eczema, Aggressive behavior, Cryptorchidism, Self-injurious behavior OMIM:618362
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... OMIM:615382
Niemann-Pick Disease, Type A
Hepatomegaly, Foam cells with lamellar inclusion bodies, Elevated circulating aspartate aminotran... OMIM:257200
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Small for gestational age, Polyuria, Renal salt wasting, Increased ... OMIM:601678
Homozygous Familial Hypercholesterolemia
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... ORPHA:391665
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Limitation of joint mobility, Hypoplastic frontal sinuses, Cleft ... ORPHA:90650
Pycnodysostosis
Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ... OMIM:265800
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... OMIM:611490
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... OMIM:264800
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope... OMIM:618986
Combined Oxidative Phosphorylation Deficiency 37
Cerebellar atrophy, Elevated hepatic transaminase, Hypoglycemia, 3-Methylglutaconic aciduria, Hyp... OMIM:618329
Hepatorenocardiac Degenerative Fibrosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... OMIM:619902
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Vomiting, Hypocalcemia, Low-molecular-weight proteinuria, ... ORPHA:411634
Gray Platelet Syndrome
Myelofibrosis, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epistaxis... OMIM:139090
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... ORPHA:280679
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Curly hair, Increased bone mineral density, Obtuse angle of mandible, Micrognathia, W... ORPHA:85184
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Osteoporosis, Pseudohypoparathyroidism, Elevated circulating parathyro... OMIM:103580
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Vomiting, Nephritis, Infectious enceph... ORPHA:73263
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Elevated circulating thyroid-stimulating hormone concentration, Osteop... OMIM:612462
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Epistaxis, Impaired pl... OMIM:601399
Caroli Syndrome
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... ORPHA:480520
Rapp-Hodgkin Syndrome
Conical tooth, Hypoplasia of the maxilla, Sparse hair, Microdontia, Bifid uvula, Cleft upper lip,... OMIM:129400
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Abnormality of the dentition, ... ORPHA:53
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Cardiomegaly, Hypoalbuminemia, Hepatic fibrosis, Vomitin... ORPHA:14
Primary Biliary Cholangitis
Fatigue, Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Abnormality... ORPHA:186
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Prim... OMIM:619534
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
48,Xyyy Syndrome
Recurrent upper respiratory tract infections, Thick lower lip vermilion, Irregularly spaced teeth... ORPHA:99329
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... OMIM:613860
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis OMIM:619549
Immunodeficiency 44
Severe viral infection, Decreased circulating total IgM, Post-vaccination measles, Abnormal circu... OMIM:616636
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Recurrent viral infections, Recurrent aspiration pneumonia, Psoriasiform dermatitis, ... ORPHA:221139
Alström Syndrome
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... ORPHA:64
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Osteoarthritis, Intracranial hemorrhage, Abnormal mitral valve morphology,... ORPHA:740
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... OMIM:247800
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Congestive heart failure, Contractures of the large join... ORPHA:324410
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Tubulointerstitial nephritis, Col... ORPHA:37042
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... ORPHA:64743
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Recurrent respiratory infections, Failure to thrive in infancy, ... OMIM:619510
Immunoglobulin A Deficiency 2
Autoimmunity OMIM:609529
Gorham-Stout Disease
Osteopenia, Abnormality of the temporomandibular joint, Osteomyelitis, Osteolysis involving bones... ORPHA:73
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Gen... OMIM:614856
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation, Epistaxis OMIM:609821
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Prolonged bleeding time, Myelofibrosis, Increased RBC distribution w... OMIM:187900
Adrenocortical Carcinoma
Increased body weight, Hyperhidrosis, Abdominal pain, Adrenocortical carcinoma, Abnormality of re... ORPHA:1501
Pontocerebellar Hypoplasia Type 2
Apnea, Abnormal cortical gyration, Bilateral tonic-clonic seizure with generalized onset, Oral-ph... ORPHA:2524
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hepatic fibrosis, Intractable diarrhea, Hepatomegaly, Hypospadias, Abnormality o... OMIM:222470
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent skin infections, Decreased circulating antibody level, Hypocystinemia, Decreased serum ... OMIM:617744
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent skin infections, Recurrent pneumonia, Increased circul... OMIM:619752
Verrucous Hemangioma
Inflammatory abnormality of the skin, Papilloma, Hemangioma ORPHA:464318
Alkaptonuria
Mitral valve calcification, Abnormal heart valve morphology, Coronary artery calcification, Myoca... ORPHA:56
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... ORPHA:3261
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ab... OMIM:235200
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa... ORPHA:263501
Neutropenia, Severe Congenital, X-Linked
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio OMIM:300299
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Global brain atrophy, Hypercholesterolemia, Hypoalbuminemia, Cerebellar vermis atrophy ORPHA:94124
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Elevated circulating creatine kinase concentration, Hyperlipidemia, Insulin re... OMIM:615980
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Roifman Syndrome
Hip contracture, Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eczema, Eosinophili... ORPHA:353298
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eczema, Craniosynostosis, Eosinophilia, Keratitis, Increased ci... OMIM:618523
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Dyspareunia, F... ORPHA:36426
H Syndrome
Diabetes mellitus, Hypertriglyceridemia, Psoriasiform dermatitis, Abnormality of the kidney, Dela... ORPHA:168569
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Anorexia, Arthralgia, Infectious encephaliti... ORPHA:117
Ménétrier Disease
Gastrointestinal hemorrhage, Anorexia, Nausea, Abdominal pain, Diarrhea, Weight loss, Hypoalbumin... ORPHA:2494
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Vomiting, Prolonged QTc interval, Mildly elevated creatine k... ORPHA:66529
Chondrodysplasia, Blomstrand Type
Micrognathia, Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ... OMIM:215045
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Maple Syrup Urine Disease
Elevated circulating branched chain amino acid concentration, Hypoglycemia, Increased level of hi... OMIM:248600
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse ... OMIM:264700
Precocious Puberty, Central, 1
Isosexual precocious puberty, Hypothyroidism, Elevated circulating follicle stimulating hormone l... OMIM:176400
Schnitzler Syndrome
Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia ORPHA:37748
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Micrognathia, Cryptorchidism, Deep philtrum, Thrombocytopenia ORPHA:1237
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash, Histiocytosis ORPHA:157997
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation of the large intes... OMIM:614700
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Glucose intolerance, Hepatic steatosis, Acne, Increased circulating cortis... ORPHA:189427
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Sple... OMIM:603552
Igg4-Related Aortitis
Increased inflammatory response, Increased circulating IgG4 level, Increased circulating IgE leve... ORPHA:449400
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Elevated urinary prostaglandin E2 level, Periosteal thickening of long tubular bones, Acne, Sebor... OMIM:167100
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis OMIM:614009
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Exercise intolerance, Hypertriglyceridemia, Hypothyroidism, Hepato... OMIM:619013
X-Linked Intellectual Disability, Cilliers Type
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Cryptorchidism, Incre... ORPHA:163971
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Myocardial infarction, Abdominal pain, Peritonitis, Diarrhea, Elevated circ... ORPHA:90038
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... OMIM:256450
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ... OMIM:259420
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Sp... OMIM:614470
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Chronic pan... ORPHA:98908
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... ORPHA:324636
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... ORPHA:229
Nestor-Guillermo Progeria Syndrome
Prominent superficial veins, Left atrial enlargement, Decreased serum leptin, Right atrial enlarg... OMIM:614008
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Co... OMIM:617156
Immunodeficiency 22
Decreased circulating IgG level, Pericarditis, Abscess, Thrombocytopenia, Recurrent upper respira... OMIM:615758
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ... OMIM:300755
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... ORPHA:158057
Odontochondrodysplasia 1
Delayed eruption of teeth, Recurrent respiratory infections, Osteoporosis, Delayed ossification o... OMIM:184260
Paternal Uniparental Disomy Of Chromosome 1
Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hem... ORPHA:251004
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Abnormal pericardium morpho... ORPHA:67
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... ORPHA:70589
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... OMIM:614172
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Diffuse cerebral atrophy, Small scrotum, Renal cyst, Hypoalbuminemia, Vomiting, Ga... OMIM:270400
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Duplicated collecting system, Diabetes mellitus, Cholestasis, Hepa... ORPHA:541423
Familial Mediterranean Fever
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Nephrocalcinosis, Arthralgia, Nephr... ORPHA:342
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebellar atrophy, Hypercholesterolemia, Hypoalbuminemia, Cerebral atrophy OMIM:607250
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Pulmonary embolism, Abdominal pain, Hypothyroidism, Diarrhe... OMIM:226300
Eosinophilic Gastroenteritis
Allergic rhinitis, Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhe... ORPHA:2070
Grant Syndrome
Micrognathia, Open bite, Decreased skull ossification, Joint hyperflexibility, Abnormal cortical ... ORPHA:2097
Bartter Syndrome Type 4
Small for gestational age, Renal salt wasting, Increased urinary potassium, Impaired renal concen... ORPHA:89938
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Generalized hypoplasia of dental enamel, Alopecia, Flexion contracture OMIM:203550
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Sparse axillary hair, Sp... ORPHA:251393
Pediatric Hepatocellular Carcinoma
Fatigue, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Port... ORPHA:33402
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Failure to thrive in infancy, Decreased circulating total IgM, ... OMIM:618987
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent respiratory infections, Skin rash, Partial IgA deficiency, Pustule, Recurrent viral inf... ORPHA:35078
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Eczema, Porphyrinuria OMIM:176090
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Carious teeth, Thr... OMIM:259700
Non-Acquired Panhypopituitarism
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... ORPHA:90695
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Blepharophimosis-Impaired Intellectual Development Syndrome
Synophrys, Flexion contracture, Low anterior hairline, Short philtrum, Widely spaced teeth, Micro... OMIM:619293
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Anhidrosis, Alopecia, Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teet... ORPHA:659
Syndromic Diarrhea
Bicuspid aortic valve, Bloody diarrhea, Abnormality of the liver, Colitis, Hepatic fibrosis, Hypo... ORPHA:84064
Hypophosphatasia, Adult
Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t... OMIM:146300
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Anorexia, Splenomegaly, Night sweats, Weigh... ORPHA:507
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Renal hypoplasia/aplasia, Precocious puberty,... ORPHA:819
Werner Syndrome
Low back pain, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating aspartate aminotrans... OMIM:277700
Interstitial Nephritis, Karyomegalic
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... OMIM:614817
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de... ORPHA:1782
Von Willebrand Disease, Type 3
Prolonged bleeding time, Epistaxis, Joint hemorrhage, Impaired platelet aggregation, Thrombocytop... OMIM:277480
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Tricuspid regurgitation, Decreased... OMIM:300972
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypo... OMIM:616589
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolyti... OMIM:616100
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Hypoglycemia, Stomatitis, Spider hemangioma, Chronic pancreati... OMIM:232240
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Postnatal growth... OMIM:613027
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Impaired glucose tolera... OMIM:606721
Bardet-Biedl Syndrome 9
Polydipsia, Renal insufficiency, Irregular menstruation, Obesity, Truncal obesity, Hyperglycemia,... OMIM:615986
Apolipoprotein A-I Deficiency
Decreased HDL cholesterol concentration, Angina pectoris, Xanthelasma, Atherosclerosis, Abnormal ... ORPHA:425
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Iris... ORPHA:167
Autoimmune Hypoparathyroidism
Prolonged QT interval, Calcium nephrolithiasis, Autoimmune hypoparathyroidism, Chronic mucocutane... ORPHA:36913
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... OMIM:614069
Vici Syndrome
Elevated circulating creatine kinase concentration, Recurrent viral infections, Leukopenia, T lym... OMIM:242840
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susc... ORPHA:289157
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Impaired ristocetin-induced plat... OMIM:231200
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Congestive heart failure, Patent ductus arteriosus, Recurrent pneumoni... OMIM:617303
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... ORPHA:731
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat... OMIM:256300
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency
Dilatation of the cerebral artery, Atherosclerosis ORPHA:91135
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Abdo... ORPHA:567983
Alg12-Cdg
Hyponatremia, Elevated hepatic transaminase, Decreased serum insulin-like growth factor 1, Abnorm... ORPHA:79324
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Alopecia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating ... OMIM:600785
Hamamy Syndrome
Osteopenia, Microcytic anemia, Micrognathia, High palate, Sparse hair, Abnormal number of hair wh... OMIM:611174
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Increased bone mineral density, Decreased response to growth hormone s... ORPHA:94089
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c... OMIM:602088
Trichodental Dysplasia
Brittle hair, Slow-growing hair, Odontodysplasia, Conical tooth, Fine hair, Hypodontia, Sparse hair OMIM:601453
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Mody
Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,... ORPHA:552
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Neutropenia, Bronchiectasis, Decreased p... OMIM:619705
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Vomiting, Arthralgia, Abdomina... ORPHA:3260
Senior-Loken Syndrome 9
Obesity, Cholestasis, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Hypogonadism,... OMIM:616629
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Proteus Syndrome
Splenomegaly, Open mouth, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, T... OMIM:176920
Acute Lung Injury
Shock, Acute pancreatitis, Pneumonia, Elevated circulating C-reactive protein concentration, Diff... ORPHA:178320
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Crypto... OMIM:612541
Hermansky-Pudlak Syndrome 6
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Ocular albinism, A... OMIM:614075
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... OMIM:255120
Felty Syndrome
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Recurrent p... ORPHA:47612
Hypoalphalipoproteinemia, Primary, 2
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis OMIM:618463
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... OMIM:615573
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal... ORPHA:232
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Skin rash, Proteinuria, Splenomegaly, Meningit... ORPHA:36412
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Fatigue, Renal... ORPHA:537
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... ORPHA:300373
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Calcinosis, Increased bone mineral density, Cerebral calcification, Dyspne... ORPHA:79443
Prader-Willi Syndrome
Recurrent respiratory infections, Small scrotum, Hypogonadotropic hypogonadism, Decreased respons... OMIM:176270
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Scarring alopecia of scalp, Nail dystrophy, Enamel hypoplasia, Anemia OMIM:226670
Perrault Syndrome 4
Increased circulating gonadotropin level, Osteoporosis, Cleft palate, Hypoplasia of the ovary, De... OMIM:615300
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Dystonia, CNS foam cells, Bone-marrow foam cells, L... OMIM:257220
Spermatogenic Failure 28
Decreased testicular size, Decreased serum testosterone concentration, Elevated circulating folli... OMIM:618086
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Wagro Syndrome
Nephroblastoma, Multiple exostoses, Aggressive behavior, Hypertension, Agitation, Compulsive beha... OMIM:612469
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Nausea, Increased circulating ferritin concentration, Splenomegaly, ... OMIM:222700
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo... ORPHA:26793
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi... OMIM:617241
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... OMIM:208540
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Benign Schwannoma
Pain, Abnormality of the liver, Abnormality of the adrenal glands, Allodynia ORPHA:252164
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Complete Androgen Insensitivity Syndrome
Male infertility, Acne, Abnormal uterine cervix morphology, Elevated circulating luteinizing horm... ORPHA:99429
Insulin-Like Growth Factor I Deficiency
Osteopenia, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone con... OMIM:608747
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Polyphag... ORPHA:33543
Diastrophic Dysplasia
Recurrent respiratory infections, Increased bone mineral density, Camptodactyly of finger, Joint ... ORPHA:628
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Intracran... ORPHA:90795
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu... ORPHA:363618
Junctional Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Nail dystrophy, Enamel hypoplasia, Anemia ORPHA:79405
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri... OMIM:613070
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Cerebellar atrophy, Elevated circulating creatine kinase concentration, Tremor, Axonal degenerati... OMIM:208920
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Coccidioidomycosis
Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, Abnormality of the male g... ORPHA:228123
Immunodeficiency 92
Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremia, Leukocytosi... OMIM:619652
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Decreased lymphocyte proliferation in response to anti-CD3, Meningitis, Recurrent uppe... OMIM:600802
Whim Syndrome
Sinusitis, Severe periodontitis, Lymphadenitis, Abnormal neutrophil morphology, Sepsis, Papilloma... ORPHA:51636
Blue Diaper Syndrome
Elevated hepatic transaminase, Hypercalcemia, Diarrhea, Elevated circulating thyroid-stimulating ... ORPHA:94086
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Abdominal pain, Rena... ORPHA:93126
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Recurrent skin infections, Abnormality of the kidney, Decreased serum iron, Ov... ORPHA:391372
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu... ORPHA:88618
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618117
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneu... OMIM:301078
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia, Generalized-onset seizure, Retrobulbar optic neuritis, Dysplastic corpus callosum, S... OMIM:619737
Rift Valley Fever
Skin rash, Retinitis, Hematemesis, Thrombocytopenia, Severe viral infection, Retinal hemorrhage, ... ORPHA:319251
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Myoc... ORPHA:54595
Tularemia
Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosi... ORPHA:3392
Yellow Fever
Anuria, Elevated circulating creatine kinase concentration, Arthralgia, Vomiting, Chills, Nausea,... ORPHA:99829
Metatropic Dysplasia
Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Cleft palate, Abnorma... ORPHA:2635
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Hypoalbuminemia, Proteinuria OMIM:614652
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec... OMIM:618131
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Choroidal neovascularization, Renal interstitial edema, Sterile pyuria, Tubulo... ORPHA:91500
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,... OMIM:619418
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Abnormal trabecular bone morphology, Splenomegaly, Recurrent pne... OMIM:612301
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, C... OMIM:256040
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233710
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Postnatal growth retardation, ... ORPHA:2457
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... OMIM:605814
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase ... ORPHA:98855
Gapo Syndrome
Dysmenorrhea, Abnormal cerebral vascular morphology, Nephrolithiasis, Oligozoospermia, Hypogonadi... ORPHA:2067
Subacute Inflammatory Demyelinating Polyneuropathy
Limitation of movement at ankles, Leukocytosis, Severe infection, Increased circulating IgG level... ORPHA:206594
Retinitis Pigmentosa 89
Bicuspid aortic valve, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic... OMIM:618955
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Micrognathia, Wide anterior fontanel, Cleft palate, Downturned co... ORPHA:163649
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Dysostosis, Stanescu Type
Increased bone mineral density, Abnormal dental enamel morphology, Abnormality of the dentition, ... ORPHA:1798
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Ventricular septal defect, Eczema, Proteinuria, Minimal change glome... OMIM:618348
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Spider hemangioma, Splenomegaly... ORPHA:2137
Steinert Myotonic Dystrophy
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Oral-pharyngeal dys... ORPHA:273
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Atherosclerosis OMIM:610842
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Dystonia, Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulati... ORPHA:64753
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Decreased testicular size ORPHA:399805
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Emery-Dreifuss Muscular Dystrophy
Back pain, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase ... ORPHA:261
Cole-Carpenter Syndrome 2
Osteopenia, Microretrognathia, Recurrent fractures, High palate, Lambdoidal craniosynostosis, Cor... OMIM:616294
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase ... ORPHA:98853
Platelet Disorder, Undefined
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Maculopapular exanthema, Skin ... ORPHA:540
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Abnormal aor... ORPHA:860
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Otitis media, Rod-cone dystrophy, Chronic sinusitis,... OMIM:300455
Autosomal Recessive Primary Microcephaly
Thin upper lip vermilion, Abnormal cortical bone morphology ORPHA:2512
Erythrokeratodermia Variabilis
Diabetes mellitus, Skin rash, Abnormal testis morphology, Neoplasm of the skin ORPHA:317
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev... OMIM:615486
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Micrognathia, High, narrow palate, Sub... ORPHA:2780
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... OMIM:620085
Premature Ovarian Failure 1
Increased circulating gonadotropin level OMIM:311360
Congenital Enterovirus Infection
Skin rash, Pericardial effusion, Myocarditis, Hepatitis, Hyperammonemia, Cholestasis, Cardiomyopa... ORPHA:292
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Staphylococcal Necrotizing Pneumonia
Shock, Respiratory distress, Diabetes mellitus, Neutrophilia, Pneumonia, Nonproductive cough, Dys... ORPHA:36238
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Bronchiectasis, Sta... OMIM:619468
Chylomicron Retention Disease
Failure to thrive, Diarrhea, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemi... OMIM:246700
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Abdominal pain, Diarrhe... ORPHA:319218
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Splenomegaly, Thro... OMIM:603554
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233690
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... ORPHA:293964
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Portal hypertension, Retinal telangiectasia, Hepatic fibrosis, Dystonia OMIM:617341
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth h... ORPHA:79444
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Ambiguous genitalia, female, Increas... ORPHA:90791
Caffey Disease
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... ORPHA:1310
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Dysplastic corpus callosum, Perimembranous ventricular septal defect, Atrial septal... OMIM:620135
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Fatigue, Minimal change glomerulonephritis, Pulmonary embolism, Abdominal pain, Hyperlipidemia, C... ORPHA:567546
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Cerebellar atrophy, Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Post... OMIM:616263
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Aggressive behavior, Flexion contracture, Compulsive behaviors, Macroorchidism OMIM:309520
Oligomeganephronia
Renal insufficiency, Pulmonary venous occlusion, Small for gestational age, Proteinuria, Unilater... ORPHA:2260
Premature Ovarian Failure 2A
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:300511
Farber Disease
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, CNS foam ce... ORPHA:333
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiec... OMIM:242700
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cholangitis, Microvesicular hepatic steatosis, Tubulointerstitial nephritis, Recurrent hypoglycem... OMIM:124000
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase ... ORPHA:98863
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Patchy osteoscle... OMIM:241410
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Sparse axillar... ORPHA:91355
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Pericardial effusion, Cryptorchidism, Elevated circ... OMIM:618183
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Alopecia, Streak... ORPHA:2232
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... ORPHA:95613
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Congestive heart failure, Abnormal renal tubular resorption, Dilated cardio... ORPHA:73224
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Recurrent fractures, Osteomalacia, Delayed epiphyseal oss... OMIM:300009
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Diabetes mellitus, Telangiectasia of the skin, Abnormality ... ORPHA:542592
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial in... ORPHA:169090
Wiskott-Aldrich Syndrome
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Sepsis, I... OMIM:301000
49,Xxxyy Syndrome
Mandibular prognathia, Abnormality of the testis size, Micrognathia, Increased circulating gonado... ORPHA:261534
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... OMIM:615415
Braddock-Carey Syndrome 1
Curly hair, Pierre-Robin sequence, Cleft palate, Thick vermilion border, Everted lower lip vermil... OMIM:619980
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev... OMIM:154230
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Recurrent fractures, Increased susceptibility to fractures, Dentinogene... OMIM:610968
Hypotonia-Cystinuria Syndrome
Fatigue, Nephrolithiasis, Cystinuria, Failure to thrive, Polyphagia ORPHA:163690
Brucellosis
Liver abscess, Knee osteoarthritis, Leukopenia, Increased circulating IgG level, Infectious encep... ORPHA:1304
Acth-Independent Macronodular Adrenal Hyperplasia 2
Fatigue, Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased bo... OMIM:615954
Osteootohepatoenteric Syndrome
Proteinuria, Abdominal pain, Microvesicular hepatic steatosis, Secretory diarrhea, Grade II vesic... OMIM:619377
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... ORPHA:91387
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Fatigue, Diabetes mellitus, Small for gestational age, Increased circulating free T4 concentratio... OMIM:274300
Lissencephaly Due To Tuba1A Mutation
Agyria, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Hypoplastic anterior limb... ORPHA:171680
Rat-Bite Fever
Back pain, Lymphadenitis, Arthralgia, Vomiting, Morbilliform rash, Chills, Maculopapular exanthem... ORPHA:31205
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Abnormal ... ORPHA:90159
Androgen Insensitivity Syndrome
Absent facial hair, Sparse axillary hair, Elevated circulating luteinizing hormone level, Sparse ... OMIM:300068
Complement Factor B Deficiency
Pneumonia, Decreased circulating complement factor B concentration, Peritonitis, Recurrent bacter... OMIM:615561
Narcolepsy 3
Narcolepsy OMIM:609039
Hsd10 Disease, Infantile Type
Restlessness, Diffuse cerebral atrophy, Abnormal circulating enzyme concentration or activity, Hy... ORPHA:391428
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Raynaud phenomenon, Discoid lupus rash, Chronic ... ORPHA:90280
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small scrotum, Hypoalbuminemia, Hypocalcemia, Vomiting, Gastroesophageal reflux, Hepatic steatosi... OMIM:613658
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Red-brown urine, Tubulointerstitial nephritis... ORPHA:157
Congenital Analbuminemia
Fatigue, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbumi... ORPHA:86816
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre... OMIM:176670
Self-Improving Dystrophic Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Nail dystrophy, Enamel hypoplasia, Anemia ORPHA:79411
Hermansky-Pudlak Syndrome 5
Hypoplasia of the fovea, Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impa... OMIM:614074
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperostosis, Subperiosteal bone formation, Taurodontia, Pulp calcification, Enamel hypoplasia OMIM:211900
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Brittle hair, Dental crowding, Joint hypermobility, Joint stiffness, Pierre-Robin sequence, Cleft... OMIM:619184
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Ataxia-Telangiectasia
Conjunctival telangiectasia, Sinusitis, T lymphocytopenia, Glucose intolerance, Hypoplasia of the... OMIM:208900
Macrophage Activation Syndrome
Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Elevated circulating asparta... ORPHA:158061
Prolactin Deficiency, Isolated
Reduced circulating prolactin concentration OMIM:264110
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... OMIM:233650
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:617690
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia, Joint stiffness ORPHA:2871
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... OMIM:153670
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Anemia of inadequate production, Carious teeth, Splenomegaly, Calvarial hyperostosis,... OMIM:612714
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Patchy reduction of bone mineral density, Cortical irregularity, Hyperthyroidi... ORPHA:249
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Yellow nails, Carious teeth, Conical incisor, Nail dystrophy, Onychomycosis, Enamel hyp... OMIM:614564
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... OMIM:243300
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... OMIM:613101
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Galloway-Mowat Syndrome 3
Cerebellar atrophy, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Cer... OMIM:617729
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... OMIM:177850
Quebec Platelet Disorder
Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Premature Ovarian Failure 20
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:619938
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Cerebellar atrophy, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, ... ORPHA:369837
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Congenital Disorder Of Deglycosylation 1
Elevated hepatic transaminase, Restlessness, Hepatomegaly, Dilation of Virchow-Robin spaces, Anhi... OMIM:615273
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... OMIM:242150
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Premature loss ... ORPHA:85188
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Renal insufficiency, Premature ovarian insufficiency, Proteinuria,... OMIM:610965
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Thin vermilion border, Hypogonadism, Sp... OMIM:300869
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Neph... OMIM:145001
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:618723
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... ORPHA:89936
49,Xyyyy Syndrome
Abnormality of the testis size, Micrognathia, Generalized joint laxity, Increased circulating gon... ORPHA:99330
Nipah Virus Disease
Respiratory distress, Anorexia, Recurrent pharyngitis, Seizure, Myoclonus, Hypotension, Cough, In... ORPHA:99825
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Hypoglycemia, Sudden cardiac death, Renal t... ORPHA:156
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Chronic diarrhea, Elevated circula... OMIM:619481
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased serum estradio... OMIM:619665
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Premature coronar... ORPHA:140905
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... ORPHA:77259
Lead Poisoning
Decreased HDL cholesterol concentration, Decreased female libido, Skin rash, Anorexia, Abnormalit... ORPHA:330015
14Q11.2 Microduplication Syndrome
Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism ORPHA:261229
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Delayed eruption of teeth, Natal tooth, Sclerotic scapulae, M... OMIM:224300
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... OMIM:114000
Niemann-Pick Disease, Type C2
Hepatomegaly, Dystonia, CNS foam cells, Bone-marrow foam cells, Low cholesterol esterification ra... OMIM:607625
Trisomy 18P
Bilateral cryptorchidism, Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ... OMIM:166220
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... OMIM:210250
Alagille Syndrome 1
Multiple small medullary renal cysts, Papillary thyroid carcinoma, Atrial septal defect, Vesicour... OMIM:118450
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... OMIM:618213
Scarf Syndrome
Craniosynostosis, Cryptorchidism, Low posterior hairline, Joint hyperflexibility, Hypoplastic nip... ORPHA:3134
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:616185
Immunodeficiency 67
Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:612885
Netherton Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent skin infections, All... OMIM:256500
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Mitral valve prolapse, Impaired ... OMIM:193400
Aarskog-Scott Syndrome
Joint laxity, Hyperextensibility of the finger joints, Elevated circulating luteinizing hormone l... OMIM:305400
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infarction, Anorexia, Myocarditis... ORPHA:3452
Ovarian Dysgenesis 10
Streak ovary, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Decreased ... OMIM:619834
Thrombotic Thrombocytopenic Purpura, Hereditary
Transient ischemic attack, Proteinuria, Myocardial infarction, Hemolytic-uremic syndrome, Tremor,... OMIM:274150
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Fatigue, Abnormal circulating albumin concentration, ... ORPHA:86839
Refractory Celiac Disease
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Elevated alkaline phosphatas... ORPHA:398063
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... ORPHA:983
Bardet-Biedl Syndrome 2
Diabetes mellitus, Bicuspid aortic valve, External genital hypoplasia, Dilated cardiomyopathy, Ob... OMIM:615981
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... ORPHA:95494
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Di... ORPHA:103910
Trisomy 20P
Inguinal hernia, Hypospadias, Camptodactyly of finger, Cryptorchidism, Hernia, Macroorchidism, Um... ORPHA:261318
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Cryptorchidism, Elevated circulating follicle st... OMIM:620103
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Elevated gamma-glutamyltransferase... OMIM:243800
Premature Ovarian Failure 8
Streak ovary, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Decreased serum e... OMIM:615723
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... OMIM:617765
Cranio-Osteoarthropathy
Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness ORPHA:1525
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Portal ... OMIM:615688
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit... ORPHA:98907
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Enamel hypoplasia, Retrognathia, High palate OMIM:617915
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, M... OMIM:615508
Secondary Intestinal Lymphangiectasia
Fatigue, Intestinal obstruction, Abdominal colic, Right ventricular failure, Reduced circulating ... ORPHA:90363
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive... ORPHA:505248
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Ataxia-Oculomotor Apraxia 4
Cerebellar atrophy, Dystonia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypo... OMIM:616267
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation, Intestinal bleeding, Joint hemorrhage, Epistaxis OMIM:605735
Narcolepsy 1
Narcolepsy OMIM:161400
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Chromosome Xq26.3 Duplication Syndrome
Ventricular hypertrophy, Elevated circulating growth hormone concentration, Pituitary adenoma, Hy... OMIM:300942
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Elevated circulating luteinizing hormone level, Sparse pubic hair, Hypopla... ORPHA:3044
Acute Interstitial Pneumonia
Fatigue, Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated ci... ORPHA:79126
Estrogen Resistance
Increased circulating osteocalcin level, Acne, Impaired glucose tolerance, Hyperinsulinemia, Incr... OMIM:615363
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Hypothyroidism, Hepatome... ORPHA:30391
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T... ORPHA:228308
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly OMIM:608898
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Limitation of joint mobility, Recurrent fractures, Micrognathia ORPHA:1486
Intellectual Developmental Disorder, Autosomal Dominant 39
Aggressive behavior, Obesity, Cerebral atrophy, Polyphagia, Self-mutilation OMIM:616521
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia OMIM:615085
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Microcephaly, Congestiv... ORPHA:90308
Polymicrogyria With Optic Nerve Hypoplasia
Bilateral tonic-clonic seizure, Infantile spasms, Dysplastic corpus callosum, Seizure, Colpocepha... ORPHA:250972
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Intr... OMIM:619055
Dent Disease
Delayed epiphyseal ossification, Nephrocalcinosis, Aminoaciduria, Low-molecular-weight proteinuri... ORPHA:1652
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Diarrhea, Rhabdomyolysis, Neuromuscular dysphagia,... ORPHA:449285
Luscan-Lumish Syndrome
Aggressive behavior, Irregular menstruation, Polycystic ovaries, Recurrent otitis media, Polyphagia OMIM:616831
Camurati-Engelmann Disease
Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Corti... OMIM:131300
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Pericardial effusion, Increased circulating ferritin concentration, Diarrhe... OMIM:619313
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Chronic d... OMIM:619484
Hereditary Arterial And Articular Multiple Calcification Syndrome
Coronary artery calcification, Arterial tortuosity, Arterial occlusion, Abnormal vascular morphol... ORPHA:289601
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormality of the to... ORPHA:47
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Alopecia, Female hypogonadism, Decreased circulating parathyroid hormone leve... OMIM:240300
Subaortic Stenosis-Short Stature Syndrome
Acne, Biliary tract abnormality, Obesity, Membranous subvalvular aortic stenosis, Type II diabete... ORPHA:3191
Angiostrongyliasis
Stiff neck, Increased circulating IgA level, Hypereosinophilia, Unusual CNS infection, Increased ... ORPHA:74
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Abdominal pain, Jaundice, Incre... ORPHA:890
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Abdominal pain, Minimal change glomerulone... ORPHA:656
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t... ORPHA:811
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Severe i... OMIM:304790
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Cardiac arrest, Elevated circulating crea... OMIM:616878
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation, Prolonged bleeding time, Ocular albinism, Epistaxis OMIM:614076
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Congenital... ORPHA:974
Angelman Syndrome
Hyperactivity, Precocious puberty in females, Aggressive behavior, Tremor, Tongue thrusting, Obes... ORPHA:72
Ectodermal Dysplasia-Syndactyly Syndrome 1
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical tooth, Coarse hair, Pa... OMIM:613573
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Episodic hyperhidrosis, Diarrhea, Elevated circulating crea... OMIM:223900
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Gout, Renal cyst, Focal se... OMIM:617056
Hyperlipoproteinemia, Type I
Nausea, Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Episodic abdominal pain, Lact... OMIM:238600
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Alopecia, Stomatitis, Osteoporosis, Thyroiditis, Rickets, Iron deficiency anem... OMIM:212750
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Micrognathia, Generalized joint laxity, Recurrent pneumonia, Decreased ... OMIM:613848
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Se... ORPHA:3085
Paget Disease Of Bone 6
Osteoarthritis, Bone pain, Nephrocalcinosis, Elevated circulating alkaline phosphatase concentrat... OMIM:616833
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Pericardial lymphangiectasia, Mild postnatal growth retardation, Ventricular septa... OMIM:235510
Sanjad-Sakati Syndrome
Hypoparathyroidism, Recurrent respiratory infections, Abnormal dental enamel morphology, Patchy o... ORPHA:2323
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Fatigue, Portal hypertension, Abdominal pain, Splenome... ORPHA:1414
Spermatogenic Failure 75
Elevated circulating follicle stimulating hormone level OMIM:619949
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Elevated circulating C-reactive protein concentration, Secretory diarrhea, El... OMIM:619573
Xq12-Q13.3 Duplication Syndrome
Decreased serum insulin-like growth factor 1, Eczema, Elevated circulating creatine kinase concen... ORPHA:314389
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Glucose into... ORPHA:358
Odontochondrodysplasia
Delayed eruption of teeth, Joint hyperflexibility, Retrognathia, Dentinogenesis imperfecta ORPHA:166272
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Mixed Connective Tissue Disease
Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Prolonged bleeding time, Hemolytic ane... ORPHA:809
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria, Conjugated hyper... OMIM:208500
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis, Micrognathia OMIM:617306
Multiple Myeloma
Osteopenia, Tall stature, Increased circulating IgA level, Splenomegaly, Nephropathy, Weight loss... ORPHA:29073
Premature Ovarian Failure 7
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:612964
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Proteinuria, Bilateral cryptorchidism, Obesity, Male hypogonadism,... OMIM:619471
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Anorexia... ORPHA:98850
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Recurrent bacterial ... OMIM:214500
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Frontotemporal Dementia
Amyotrophic lateral sclerosis, Disinhibition, Inappropriate laughter, Neuronal loss in central ne... OMIM:600274
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Cryptorchidism, Patent duct... OMIM:620005
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Chronic ... OMIM:300554
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... OMIM:144250
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Central retinal vessel vascular tortuosity, Chronic kidney disease, Calcif... OMIM:208060
Necrotizing Enterocolitis
Shock, Apnea, Diarrhea, Peritonitis, Neutropenia, Leukocytosis, Bloody diarrhea, Abnormal heart m... ORPHA:391673
Premature Ovarian Failure 15
Decreased cirrculating antimullerian hormone circulation, Elevated circulating follicle stimulati... OMIM:618096
Alg9-Cdg
Right ventricular dilatation, Vomiting, Gastroesophageal reflux, Abnormal left ventricular outflo... ORPHA:79328
Cerebral Creatine Deficiency Syndrome 2
Aggressive behavior, Tremor, Decreased serum creatinine, Elevated circulating guanidinoacetic aci... OMIM:612736
Eiken Syndrome
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... ORPHA:79106
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Decreased circul... ORPHA:33355
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Skin rash, Incre... OMIM:603553
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Diabetes mellitus, Hypospadias, Eczema, Cryptorchidism, Recurrent pneumonia, Recurrent otitis med... ORPHA:500159
Prolidase Deficiency
Eczema, Hyperimidodipeptiduria, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Diffuse tela... OMIM:170100
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Chronic diarrhea... OMIM:618268
Osteogenesis Imperfecta, Type I
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Finger joint hypermobilit... OMIM:166200
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leuko... OMIM:260920
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Limitation of joint mobili... ORPHA:69126
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Recurrent fractures, Micrognathia, Abnormality of the dentition, ... OMIM:617952
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Precocious puberty, Delayed eruption of permanent teeth, Periodontitis, Type I diabet... OMIM:619269
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Splenomegaly, Recurrent infections, Hypohidrosis, Enamel hypoplasia, Retrognathia, ... OMIM:614576
Tempi Syndrome
Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage, Increased circulating IgG lev... ORPHA:284227
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Asthma, Decreased pla... ORPHA:274
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Enamel hypoplasia, Hypospadias OMIM:618874
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Seckel Syndrome 5
Selective tooth agenesis, Micrognathia, Cryptorchidism, Cleft palate, Oligodontia, High palate, H... OMIM:613823
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time, Hypertrophic cardiomyopathy, Pulmonic stenosis, Dysphagia ORPHA:638
Idiopathic Bronchiectasis
Myocardial infarction, Crackles, Productive cough, Dyspnea, Wheezing, Respiratory tract infection... ORPHA:60033
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Recurrent skin infections, Decreased serum iron, Dilated cardiomyopathy, Dysph... ORPHA:89842
Hermansky-Pudlak Syndrome 11
Hypoplasia of the fovea, Epistaxis, Ocular albinism, Reduced platelet dense granules, Impaired co... OMIM:619172
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Fatigue, Impulsivity, Cryptorchidism, Increased body weight, Hand tremor, Gastroesophageal reflux... ORPHA:589905
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Cerebellar atrophy, Elevated hepatic transaminase, Exercise intolerance, Impaired glucose toleran... OMIM:610131
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Resting tremor, Dyston... ORPHA:909
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Wide anterior fontane... OMIM:610915
Raine Syndrome
Mandibular prognathia, Natal tooth, Increased bone mineral density, Highly arched eyebrow, Microg... OMIM:259775
Argininosuccinic Aciduria
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, O... OMIM:207900
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Large for gestational age,... ORPHA:45452
Wolfram Syndrome 2
Neurogenic bladder, Optic neuropathy, Optic atrophy, Decreased circulating antibody level, Impair... OMIM:604928
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Impaired glucose tolerance, Postnatal growth retardation, Hyperlipidemi... OMIM:248370
Pemphigus Erythematosus
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... ORPHA:79480
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma, Failure to thrive, Hypoalbuminemia OMIM:227090
Cortisone Reductase Deficiency 1
Precocious puberty, Acne, Infertility, Oligomenorrhea OMIM:604931
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Reduced subcutaneous adipose tissue, Recurrent respiratory infections, Impulsivity, Precocious pu... OMIM:619950
Hereditary Chronic Pancreatitis
Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Elevated circulating C-... ORPHA:676
Joubert Syndrome 9
Hepatic fibrosis, Stage 5 chronic kidney disease OMIM:612285
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Increased circul... OMIM:602450
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom... OMIM:613011
Joubert Syndrome With Hepatic Defect
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... ORPHA:1454
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Pneumonia, Anorexia, Right ventricular failure, Abnormal pulmonary valve... ORPHA:97287
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... OMIM:616188
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... OMIM:615978
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Diarrhea, Elevated circulating creatinine conc... OMIM:235400
7Q11.23 Microduplication Syndrome
Atrial septal defect, Chronic otitis media, Abnormal repetitive mannerisms, Aplasia/hypoplasia of... ORPHA:96121
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:306400
Macrocephaly/Autism Syndrome
Joint laxity, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Decreased circu... OMIM:605309
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Decreased serum insulin-like growth factor 1, Eczema, Postnatal growth retardation, Increased cir... OMIM:618985
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections, Lung abscess, Decreased specif... OMIM:241600
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... OMIM:617394
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Ren... OMIM:243910
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Absence of pubertal development, Vanishing testis... OMIM:273250
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Fatigue, Intraalveolar phospholipid accumulation, Wei... ORPHA:747
Pachydermoperiostosis
Abnormal hair quantity, Osteomyelitis, Elevated circulating growth hormone concentration, Abnorma... ORPHA:2796
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Enamel hypoplasia, Nail dystrophy OMIM:226700
Proteus Syndrome
Pulmonary embolism, Neoplasm of the thymus, Neoplasm of the central nervous system, Neoplasm, Cap... ORPHA:744
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Andersen Cardiodysrhythmic Periodic Paralysis
Joint laxity, Thin upper lip vermilion, Hyperthyroidism, Dental crowding, Short mandibular rami, ... OMIM:170390
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Angina pectoris OMIM:614025
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Decreased testicular size, Restlessness, External genital hypoplasia, Aggressive behavior, Postna... ORPHA:251028
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Recurrent respiratory infections, Micrognat... ORPHA:2484
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Premature Ovarian Failure 9
Hypoplasia of the ovary, Elevated circulating follicle stimulating hormone level, Elevated circul... OMIM:615724
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Dia... ORPHA:71
C1Q Deficiency 2
Chilblains, Pneumocystis carinii pneumonia, Elevated circulating C-reactive protein concentration... OMIM:620321
Branchioskeletogenital Syndrome
Mandibular prognathia, Absent nipple, Unilateral cleft palate, Highly arched eyebrow, Craniosynos... ORPHA:1299
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Nausea, Insulin-dependent but ketosis-resistant dia... ORPHA:103918
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Abnormal... ORPHA:79644
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Anorexia, Elevated circulating C-reactive protein concentr... OMIM:619381
Chylous Ascites
Pancreatitis ORPHA:1160
Bardet-Biedl Syndrome 19
Renal insufficiency, Ventricular septal defect, External genital hypoplasia, Partial atrioventric... OMIM:615996
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Premature Ovarian Failure 18
Decreased cirrculating antimullerian hormone circulation, Hypoplasia of the ovary, Elevated circu... OMIM:619203
Lujo Hemorrhagic Fever
Respiratory distress, Stiff neck, Crackles, Nonproductive cough, Fulminant hepatitis, Leukopenia,... ORPHA:319213
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Elevat... OMIM:617478
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone l... OMIM:614129
Bloom Syndrome
Decreased circulating IgG level, Elevated hemoglobin A1c, Decreased fertility in females, Postnat... OMIM:210900
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Recurrent fractures, Osteoporosis, Reduced bone mineral density, Dentinogenesis imp... OMIM:616507
Cenani-Lenz Syndactyly Syndrome
Premature loss of permanent teeth, Micrognathia, Radioulnar synostosis, Hypodontia, Metacarpal sy... OMIM:212780
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis, Abnormality of the urinary system OMIM:213010
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Acne, Adrenal hyperplasia, Increased body weight, Hypertension, Increased circ... OMIM:615830
Narcolepsy 7
Narcolepsy OMIM:614250
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypoglycemia, Cardiac arrest, Rhabdomyolysis, Ventricular tachycardia, A... OMIM:212138
Niemann-Pick Disease Type C
Bone-marrow foam cells, Tremor, Abnormality of the liver, Compulsive behaviors, Limb dystonia, As... ORPHA:646
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Microcephaly 26, Primary, Autosomal Dominant
Microcephaly, Dysplastic corpus callosum, Recurrent pneumonia, Simplified gyral pattern, Chronic ... OMIM:619179
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Hypoglycemia, Precocious puberty, In... ORPHA:786
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hyperactivity, Inappropriate laughter, Obesity ORPHA:411515
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level OMIM:616946
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Failure to thrive, Hypoalbuminemia ORPHA:1954
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Hypercalc... OMIM:241530
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... OMIM:300291
Diffuse Alveolar Hemorrhage
Proteinuria, Elevated circulating creatinine concentration, Weight loss, Hematuria, Chest pain, P... ORPHA:90060
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Abdominal pain, Pericardial effusion, Chronic diarrhea, Weight loss, Abnorma... ORPHA:90362
Hypocalciuric Hypercalcemia, Familial, Type Iii
Fatigue, Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular cal... OMIM:600740
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hypergl... OMIM:307030
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis OMIM:270150
Pituitary Adenoma 4, Acth-Secreting
Impaired glucose tolerance, Pituitary adenoma, Obesity, Increased circulating ACTH level, Nephrol... OMIM:219090
Heimler Syndrome 1
Beau's lines, Enamel hypoplasia, Leukonychia, Amelogenesis imperfecta OMIM:234580
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Trichothiodystrophy
Osteopenia, Sparse scalp hair, Increased bone mineral density, Multiple joint contractures, Britt... ORPHA:33364
Cockayne Syndrome Type 2
Mandibular prognathia, Delayed eruption of primary teeth, Cryptorchidism, Hypoplasia of the prima... ORPHA:90322
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, He... OMIM:259730
Immunodeficiency, Common Variable, 10
Recurrent oral herpes, Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Recurrent v... OMIM:615577
Oculoskeletodental Syndrome
Abnormality of the dentition, Abnormality of the frontal hairline, Oligodontia, Microdontia, Enam... ORPHA:557003
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko... ORPHA:77297
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Recurrent upper respiratory tra... OMIM:615952
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... ORPHA:98849
Mercury Poisoning
Respiratory distress, Tachycardia, Anorexia, Dyspnea, Hypertension, Respiratory failure, Intersti... ORPHA:330021
Poems Syndrome
Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Polycythemia, Abnormality of t... ORPHA:2905
6Q16 Microdeletion Syndrome
Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Arthralgia, N... ORPHA:324
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent herpes, Oropharyngeal squamous cell carcinoma, T lymphocytopenia, Infectious encephalit... ORPHA:391487
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased testicular size, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormo... ORPHA:90796
Tsh-Secreting Pituitary Adenoma
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male h... ORPHA:91347
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Intellectual Developmental Disorder, Autosomal Dominant 1
Recurrent ear infections, Aggressive behavior, Postnatal growth retardation, Self-injurious behav... OMIM:156200
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Respiratory insufficiency, Macroglossia, Seizure, H... OMIM:616900
Classic Mycosis Fungoides
Skin rash, Eczema, Cutaneous T-cell lymphoma, Pruritus, Splenomegaly, Lymphoma, Lymphadenopathy, ... ORPHA:2584
Immunodeficiency 10
Kaposi's sarcoma, Autoimmune hemolytic anemia, Recurrent infections, Lymphadenopathy, Recurrent b... OMIM:612783
Pmm2-Cdg
Elevated circulating thyroid-stimulating hormone concentration, Intracranial hemorrhage, Hyperpla... ORPHA:79318
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Bicornuate uterus, Polycystic kidney dysplasia, Abnormal heart morphology OMIM:263210
Slc35A1-Cdg
Respiratory distress, Prolonged bleeding time, Pneumonia, Giant platelets, Hypoxemia, Neutropenia... ORPHA:238459
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Microcephaly, Dysplastic corpus callosum, Flexion contracture, Simplified gyral pattern, Seizure,... OMIM:620001
Cystinosis
Portal hypertension, Rickets, Myopathy, Vomiting, Type I diabetes mellitus, Polydipsia, Abnormal ... ORPHA:213
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Axonal degeneration, Hand tremor, Degeneration of anterior horn cells, Hyperglyce... OMIM:604484
Premature Ovarian Failure 6
Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... OMIM:612310
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Severe i... ORPHA:2686
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Bloody diarrhea, T... ORPHA:90068
Classical-Like Ehlers-Danlos Syndrome Type 2
Diabetes mellitus, Hypertriglyceridemia, Carotid artery stenosis, Pericardial effusion, Cryptorch... ORPHA:536532
Pituitary Gigantism
Mandibular prognathia, Elevated circulating growth hormone concentration, Hyperhidrosis, Increase... ORPHA:99725
Stüve-Wiedemann Syndrome
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Abnormal... ORPHA:3206
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Overweight, ... OMIM:617406
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Gastroesoph... ORPHA:1606
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodon... ORPHA:534
Sjogren-Larsson Syndrome
Enamel hypoplasia, Flexion contracture OMIM:270200
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Telangiectasia of the skin, Thin bony cortex ORPHA:75508
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Back pain, Aggressive behavio... ORPHA:905
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Decreased serum insu... ORPHA:77293
Orofaciodigital Syndrome I
Proteinuria, Hepatic cysts, Pancreatic cysts, Cerebral atrophy, Abnormal heart morphology, Hypert... OMIM:311200
Vici Syndrome
Abnormality of retinal pigmentation, Recurrent respiratory infections, Joint stiffness, Decreased... ORPHA:1493
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Carious teeth, Osteoporosis, Recurrent fractures OMIM:126550
Seckel Syndrome 1
Pancytopenia, Dental crowding, Selective tooth agenesis, Micrognathia, Cryptorchidism, Elbow flex... OMIM:210600
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Micrognathia, Thrombo... OMIM:259720
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Myositis, Sinusitis, Skin rash, Thrombocytopenia, Splenomegaly, Flexion contracture,... OMIM:617591
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Hepatic steatosis, Hyperactivity, Hypospadias, Ventricular septal defect, P... ORPHA:254346
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc... OMIM:604416
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Decreased circulating dih... OMIM:228300
Cockayne Syndrome Type 1
Mandibular prognathia, Foot joint contracture, Delayed eruption of primary teeth, Abnormality of ... ORPHA:90321
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... OMIM:116920
Meckel Syndrome 14
Tricuspid regurgitation, Mitral regurgitation, Hepatic fibrosis, Aplasia of the uterus, Polycysti... OMIM:619879
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ... ORPHA:2919
Even-Plus Syndrome
Dysplastic corpus callosum, Atopic dermatitis, Agenesis of corpus callosum, Atrial septal defect,... OMIM:616854
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Renal dysplasia, Hepatomegaly, Ureteral duplication, Cholangitis, Pancreatic cysts, Congenital he... OMIM:266920
Noonan Syndrome
Abnormal pulmonary valve morphology, Abnormality of the spleen, Pulmonary artery stenosis, Aplasi... ORPHA:648
12Q14 Microdeletion Syndrome
Diabetes mellitus, Micrognathia, Abnormality of the spleen, Osteopoikilosis, Synophrys, Downturne... ORPHA:94063
Renal Glucosuria
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia OMIM:233100
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Absence of subcutaneou... ORPHA:90160
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partia... OMIM:619103
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated hepatic transaminase, Exercise intolerance, Elevated circulating creatine kinase concent... OMIM:620138
Oculodentodigital Dysplasia
Dry hair, Slow-growing hair, Selective tooth agenesis, Cleft upper lip, Carious teeth, Enamel hyp... OMIM:164200
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Eczema, Hepatic failure OMIM:177000
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Myocardial infarction, Anorexia, Pancreatoblastoma, Pituitary corticotropic ... ORPHA:99889
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Ren... OMIM:614376
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Wide anterior fontanel, Sepsis, Cholelithiasis, Abnormal cortical b... OMIM:614886
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... ORPHA:93284
Scarf Syndrome
Cryptorchidism, Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Lambdoidal cr... OMIM:312830
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... OMIM:261740
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity ORPHA:231154
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... OMIM:123550
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, BCGosis, Increased circulating ferritin conc... OMIM:618963
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... OMIM:617780
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Optic disc pallor, Epistaxis, Ocular albinism, Impaired platelet aggrega... OMIM:614077
Cerebrofacioarticular Syndrome
Osteopenia, Microcephaly, Dysplastic corpus callosum, Abnormal heart morphology, Self-injurious b... ORPHA:314679
48,Xxxy Syndrome
Renal dysplasia, Hypoplasia of penis, Small scrotum, Pulmonary embolism, Tremor, Cryptorchidism, ... ORPHA:96263
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Hypernatriuria, Elev... OMIM:300539
Premature Ovarian Failure 21
Decreased serum estradiol, Streak ovary, Precocious puberty in females, Elevated circulating foll... OMIM:620311
Methemoglobinemia And Ambiguous Genitalia
Decreased circulating dehydroepiandrosterone-sulfate concentration, Methemoglobinemia, Elevated c... OMIM:250790
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation,... OMIM:619127
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Du... ORPHA:39812
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Dyskeratosis Congenita, Autosomal Dominant 2
Urethral stricture, Chronic diarrhea, Dilated cardiomyopathy, Hepatic fibrosis, Failure to thrive OMIM:613989
Snijders Blok-Campeau Syndrome
Joint laxity, Taurodontia, High palate, Widely spaced teeth, Enamel hypoplasia OMIM:618205
Man1B1-Cdg
Truncal obesity, Polyphagia, Resting tremor ORPHA:397941
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Hemolytic anemia, Skin rash, Genital ulcers, Colitis, Lymphopenia, Thrombocytop... OMIM:616744
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed eruption of primary teeth, Micrognathia, Absent frontal s... OMIM:119600
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dystonia, Dysuria, Elevated circulating creatinine concentration, Gout, Hype... ORPHA:79233
Indolent Systemic Mastocytosis
Maculopapular exanthema, Skin rash, Hematological neoplasm, Pruritus, Splenomegaly, Lymphadenopat... ORPHA:98848
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Decreased testicular size ORPHA:399808
Prolactinoma
Osteopenia, Abnormal hair quantity, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated ... ORPHA:2965
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Cerebellar atrophy, Glomerulopathy, Renal insufficiency, Proteinuria, Postural tremor, Action tre... OMIM:254900
Sotos Syndrome
Tall stature, Ventricular septal defect, Abnormality of the kidney, Aggressive behavior, Cryptorc... OMIM:117550
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Polyphagia, Pineal cyst, Enuresis nocturna... OMIM:615873
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Chronic oral candidiasis, Lymphopenia... OMIM:614162
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Splenomeg... OMIM:618935
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Increased bone mineral density, Abnormal dental enamel morphology, Cryptor... ORPHA:2658
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... ORPHA:293987
Aplasia Cutis Congenita
Prolonged bleeding time, Facial palsy, Abnormality of bone mineral density ORPHA:1114
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Failure to thrive in infancy, Increased circulating IgA level, Leukocyto... OMIM:617099
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... OMIM:618108
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Osteomyelitis, Glucocortocoid-insensitive primary hyperaldosteronism, Pustule, Recu... ORPHA:171876
Igg4-Related Pachymeningitis
Low back pain, Sinusitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, N... ORPHA:449427
Lenz-Majewski Hyperostotic Dwarfism
Joint laxity, Hyperextensibility of the finger joints, Mandibular prognathia, Anterior pituitary ... OMIM:151050
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Skin rash, Telangiectasia of the skin, Small for... ORPHA:2909
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O... ORPHA:289176
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Prolonged bleeding time, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint ... ORPHA:1901
Pancreatitis, Hereditary
Diabetes mellitus, Abdominal pain, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, ... OMIM:167800
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis, Prematu... OMIM:239000
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Cachexia, Abdominal pain, Patent ductus arteriosus, Diarrhea, Abnorm... ORPHA:79076
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Sarcoidosis, Susceptibility To, 2
Facial palsy, Erythema nodosum, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pul... OMIM:612387
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Abdominal pain, Elevated circulating crea... OMIM:614723
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Carious teeth, Nail dystr... OMIM:612843
Lathosterolosis
Elevated hepatic transaminase, Foam cells with lamellar inclusion bodies, Bilobate gallbladder, I... OMIM:607330
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Mitral valve calcification, Cachexia, Abnormality of the spleen... ORPHA:2072
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:243150
Beta-Ketothiolase Deficiency
Hypoglycemia, Anorexia, Diarrhea, Tachypnea, Leukocytosis, Hypertension, Seizure, Vomiting, Agita... ORPHA:134
Cushing Disease
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Increased body ... ORPHA:96253
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Cystic Fibrosis
Male infertility, Hepatomegaly, Meconium ileus, Diarrhea, Recurrent pneumonia, Ileus, Biliary cir... OMIM:219700
Tangier Disease
Accelerated atherosclerosis, Hypertriglyceridemia, Carotid artery stenosis, Abdominal pain, Hepat... ORPHA:31150
Orthostatic Hypotension 1
High palate, Joint hypermobility, Reduced circulating prolactin concentration OMIM:223360
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Diarrhea, Osteoporosis, Rickets, Vomiting, Myoclonus, Type I diabetes mellitus OMIM:560000
Panbronchiolitis, Diffuse
Foam cells, Bronchiectasis OMIM:604809
Recessive Dystrophic Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Nail dystrophy, Enamel hypoplasia, Anemia ORPHA:79409
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Q Fever
Abnormal left ventricular function, Cholecystitis, Meningitis, Infectious encephalitis, Maculopap... ORPHA:781
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ventricular fa... ORPHA:100080
Aspartylglucosaminuria
Recurrent respiratory infections, Aspartylglucosaminuria, Acne, Vacuolated lymphocytes, Mitral re... OMIM:208400
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Streak ovary, Decreased response to growth hormone stimulation t... ORPHA:3464
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, P... OMIM:241080
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Tachypnea, Reduced left ... OMIM:616501
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Xp21 Deletion Syndrome
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... ORPHA:261476
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegal... ORPHA:3226
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Bilateral tonic-clonic seizure with fo... ORPHA:488627
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Epistaxis, Splenomegaly, Wheezing, Diarrhea, Rickets OMIM:211600
Cutis Laxa-Marfanoid Syndrome
Abnormal heart valve morphology, Congenital diaphragmatic hernia, Limitation of joint mobility, F... ORPHA:171719
Complement Component 5 Deficiency
Reduced hemolytic complement activity, Recurrent Neisserial infections, Generalized seborrheic de... OMIM:609536
Den Hoed-De Boer-Voisin Syndrome
Smooth philtrum, Delayed eruption of teeth, Recurrent urinary tract infections, Joint hypermobili... OMIM:619229
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Alopecia, Oral mucosal blisters, Flexion contracture, Nail dystrophy, Narrow mouth, Enamel hypopl... OMIM:226600
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Carious teeth... ORPHA:2769
Scrub Typhus
Anterior uveitis, Skin rash, Dyspnea, Myocarditis, Splenomegaly, Restrictive ventilatory defect, ... ORPHA:83317
Kapur-Toriello Syndrome
Ventricular septal defect, Pachygyria, Dysplastic corpus callosum, Patent ductus arteriosus, Tetr... ORPHA:2328
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Eosinophilia, Cholangitis, Abnormality of the kidney, Increased circulating ... ORPHA:449432
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Macroglossia, Seizure, Hypotension, Atrial s... OMIM:615668
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Sickle Cell Disease
Hemolytic anemia, Renal insufficiency, Splenomegaly, Leukocytosis, Splenic infarction, Hematuria,... OMIM:603903
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Enamel hypoplasia, Nail dystrophy, Hypodontia OMIM:616029
Isolated Splenogonadal Fusion
Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circulating gonadotropin level, Te... ORPHA:457083
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Abnormal repetitive mannerisms, Patent ductus arteriosus, Attention de... ORPHA:435638
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ventricular fa... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ventricular fa... ORPHA:100082
Kleefstra Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Renal cyst, Gastroesophageal reflux, Chronic otitis m... ORPHA:261494
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Hip contracture, Delayed eruption of teeth, Interphalangeal joint contracture of fing... OMIM:259600
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microcephaly, Dysplastic corpus callosum, Flexion contracture, Seizure, Lissencephaly, Polymicrog... OMIM:614833
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... OMIM:611762
Neuhauser Syndrome
Hypercholesterolemia, Cerebral cortical atrophy, Primary hypothyroidism, Dysphagia OMIM:249310
Hatipoglu Immunodeficiency Syndrome
Pancytopenia, Recurrent herpes, Hypospadias, Eczema, Recurrent bronchitis, Inguinal hernia, Crypt... OMIM:620331
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Hypospadias, Eczema, Decreased response to growth hormone stimulation test, Bilateral cryptorchid... OMIM:618336
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Dysplastic corpus callosum, Patent ductus arteriosus, Muscular ventricular s... ORPHA:363444
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... OMIM:214900
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Elevated circulating C-reactive protein c... ORPHA:3243
Desmosterolosis
Increased bone mineral density, Micrognathia, Splenomegaly, Submucous cleft hard palate, Cleft pa... ORPHA:35107
Classic Hodgkin Lymphoma
Skin rash, Anorexia, Pruritus, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm, Bone marrow hyp... ORPHA:391
Erythema Elevatum Diutinum
Skin rash, Vasculitis in the skin, Increased circulating antibody level ORPHA:90000
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Oral mucosal blisters, Carious teeth, Nail dystrophy, Enamel hypoplasia, Anemia ORPHA:79410
Adult-Onset Still Disease
Pericarditis, Neutrophilia, Skin rash, Generalized lymphadenopathy, Elevated circulating C-reacti... ORPHA:829
Primary Ciliary Dyskinesia
Male infertility, Recurrent sinopulmonary infections, Female infertility, Asplenia, Recurrent myc... ORPHA:244
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Inguinal hernia, Eczema, Hydrocele testis, Increased serum testosterone lev... ORPHA:96181
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypergonadotropic hypogonadism, Female hypogonadism, Hypospadias, Ab... ORPHA:755
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... OMIM:614450
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:605594
46,Xy Sex Reversal 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:612965
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... OMIM:616576
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Micrognathia, Hypopla... ORPHA:90652
Essential Thrombocythemia
Myelofibrosis, Prolonged bleeding time, Transient ischemic attack, Abnormality of thrombocytes, M... ORPHA:3318
Pneumocystosis
Pneumocystis jirovecii pneumonia, Abnormal neutrophil count, Weight loss, Acute infectious pneumo... ORPHA:723
Cockayne Syndrome Type 3
Mild postnatal growth retardation, Gastroesophageal reflux, Intention tremor, Hepatomegaly, Renal... ORPHA:90324
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Polycystic kidney dysplasia OMIM:614091
Nail-Patella Syndrome
Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex... ORPHA:2614
Premature Ovarian Failure 13
Elevated circulating follicle stimulating hormone level OMIM:617442
Infantile Systemic Hyalinosis
Osteopenia, Telangiectasia of the skin, Osteomalacia, Recurrent fractures, Camptodactyly of finge... ORPHA:2176
Monosomy 13Q34
Metrorrhagia, Hypercalcemia, Epistaxis, Insulin resistance, Fetal pyelectasis, Obesity, Hematoche... ORPHA:96168
Combined Oxidative Phosphorylation Deficiency 53
Osteomyelitis, Dysplastic corpus callosum, Hypochromic microcytic anemia, Arthritis, Seizure, Sec... OMIM:619423
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Joint laxity, Abnormality of hair texture, Micrognathia, Synophrys, Hypoplastic sweat... ORPHA:73223
Alexander Disease
Osteopenia, Cerebral calcification, Diabetes mellitus, Facial palsy, Sudden cardiac death, Bowel ... ORPHA:58
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Silver-Russell Syndrome
Abnormality of male external genitalia, Failure to thrive in infancy, Hypospadias, Cachexia, Post... ORPHA:813
Brittle Cornea Syndrome 1
Joint laxity, Red hair, Dentinogenesis imperfecta OMIM:229200
Fanconi Renotubular Syndrome 5
Hypertension, Decreased DLCO, Pulmonary fibrosis, Glycosuria, Hypophosphatemic rickets, Emphysema... OMIM:618913
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... ORPHA:2495
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin... ORPHA:79127
Adnp Syndrome
Recurrent urinary tract infections, Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphag... ORPHA:404448
Joubert Syndrome 6
Stage 5 chronic kidney disease, Bile duct proliferation, Hepatic fibrosis, Nephronophthisis, Abno... OMIM:610688
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypouricemia, ... OMIM:616026
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hypopigmentation of hair, Osteopetrosis OMIM:618541
Nephronophthisis-Like Nephropathy 1
Kinetic tremor, Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts,... OMIM:613159
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Highly arched eyebrow, Elevated circulating luteinizing hormone level, Sparse e... OMIM:618419
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Tremor, Congenital malformation of the lef... ORPHA:3455
Ring Chromosome Y Syndrome
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... ORPHA:261529
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Camptodactyly of finger, Recurrent fractures, Increased circulating IgE leve... ORPHA:3409
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Prolonged bleeding time, Increased mean platelet volume, Myocar... ORPHA:182050
Ovarian Dysgenesis 3
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:614324
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Squamous cell carcinoma, Chronic furuncu... OMIM:613736
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp... OMIM:145981
Weismann-Netter Syndrome
Abnormality of the thyroid gland, Abnormal cortical bone morphology, Anemia ORPHA:3344
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Diarr... OMIM:600955
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticuloc... OMIM:275350
Infant Botulism
Cardiac arrest, Bowel incontinence, Anorexia, Respiratory insufficiency due to muscle weakness, D... ORPHA:178478
Congenital Tracheomalacia
Apnea, Cardiomegaly, Decreased peak expiratory flow, Gastroesophageal reflux, Cough, Atrial septa... ORPHA:95430
Carnitine-Acylcarnitine Translocase Deficiency
Sudden episodic apnea, Microcephaly, Rhabdomyolysis, Ventricular tachycardia, Respiratory insuffi... ORPHA:159
Poliomyelitis
Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Stiff neck, Lower li... ORPHA:2912
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Hyperactivity, First degree atrioventricular block, Abdominal pain, Patent d... ORPHA:589821
Galloway-Mowat Syndrome 1
Cerebellar atrophy, Diffuse mesangial sclerosis, Renal insufficiency, Small for gestational age, ... OMIM:251300
Alport Syndrome
Mesangial hypercellularity, Vomiting, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 depos... ORPHA:63
Weaver Syndrome
Inguinal hernia, Cryptorchidism, Hydrocele testis, Camptodactyly, Umbilical hernia, Joint contrac... OMIM:277590
Lacrimoauriculodentodigital Syndrome 3
Absent eyelashes, Carious teeth, Xerostomia, Widely spaced teeth, Enamel hypoplasia OMIM:620193
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur... OMIM:145980
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Dilated cardiomyopathy, Seizure, Mitral regurgitation, Secondary microce... OMIM:619167
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Abnormality of the kidney, Obesity, Macular degeneration... OMIM:613464
Mucolipidosis Iv
Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly OMIM:252650
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... ORPHA:99147
Meckel Syndrome, Type 3
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... OMIM:607361
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati... ORPHA:32960
Oculodentodigital Dysplasia
Mandibular prognathia, Curly hair, Brittle hair, Slow-growing hair, Camptodactyly of finger, Abno... ORPHA:2710
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Protruding tongue, Splenomegaly, Gingival overgrowth, Sea-blue histiocytosis, Na... OMIM:230600
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Increased bone mineral density, Thickened cortex of long bones, Anemia OMIM:127000
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Diabetes mellitus, Proteinuria, Cerebral artery atherosclerosis, Renal artery stenosis, Nephropat... OMIM:209010
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Large for gestational age, Cardiome... ORPHA:363705
Hellp Syndrome
Elevated hepatic transaminase, Back pain, Fatigue, Shoulder pain, Proteinuria, Cerebral hemorrhag... ORPHA:244242
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Recurrent bacterial i... OMIM:248500
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Craniosynostosis, Oral mucosal blisters, Sepsis, Recurrent infections, Smooth tongue, N... ORPHA:79396
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Recurrent fractures, Craniosynostosis, Micrognathia, Car... ORPHA:536467
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Large for gestational age, Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutrop... OMIM:614520
Schwartz-Jampel Syndrome
Micrognathia, Low anterior hairline, High palate, Wrist flexion contracture, Generalized hirsutis... ORPHA:800
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Anorexia, Rickets, Hepatosplenomegaly, Decreased mean corpuscu... OMIM:611590
Cranioectodermal Dysplasia 1
Hepatomegaly, Bicuspid aortic valve, Malformation of the hepatic ductal plate, Renal magnesium wa... OMIM:218330
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Increased circulating lactate dehydrogenase concentration, Hyperphosphaturia... OMIM:309000
Tick-Borne Encephalitis
Stiff neck, Meningitis, Leukocytosis, Unusual CNS infection, Leukopenia, Increased circulating Ig... ORPHA:297
Autosomal Recessive Cutis Laxa Type 2A
Thick cerebral cortex, Generalized-onset seizure, Dysplastic corpus callosum, Increased susceptib... ORPHA:357058
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... OMIM:609628
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Myelodysplasia, Lymphoma, Leukopenia, Monocyto... OMIM:616871
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Diarrhea, Telangiectasia, Seizure, Interstitial pneumonitis... ORPHA:454831
Pili Torti, Early-Onset
Dry hair, Brittle hair, Enamel hypoplasia, Coarse hair, Hair shafts flattened at irregular interv... OMIM:261900
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli... OMIM:618727
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Fatigue, Exercise intolerance, Elevated circulating creatine kinase concentration, Obesity, Heart... OMIM:615418
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... OMIM:615607
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Hypoglycemia, Bilateral tonic-clonic seizure, Cerebral hemorrhage, Dilat... OMIM:620300
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Tricuspid regurgitation, Pancreatic fibrosis, Ventricular septal defect, He... OMIM:263520
Cinca Syndrome
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve... OMIM:607115
Joubert Syndrome 1
Hyperactivity, Aggressive behavior, Renal cyst, Hepatic fibrosis, Nephropathy, Self-mutilation OMIM:213300
Neu-Laxova Syndrome
Osteopenia, Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Cereb... ORPHA:2671
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Failure to... OMIM:600081
Subcorneal Pustular Dermatosis
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:48377
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ... ORPHA:1772
Aspartylglucosaminuria
Recurrent respiratory infections, Inguinal hernia, Aspartylglucosaminuria, Splenomegaly, Arthriti... ORPHA:93
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... ORPHA:226313
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Overweight, Optic atrophy, Obesity, Mitral regurgitation, Pulmonary arteria... OMIM:614651
Chromomycosis
Keratitis, Pruritus, Squamous cell carcinoma, Atypical scarring of skin, Recurrent bacterial infe... ORPHA:182
Meningococcal Meningitis
Shock, Neonatal respiratory distress, Projectile vomiting, Skin rash, Stiff neck, Anorexia, Seizu... ORPHA:33475
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Acne, Seborrheic dermatitis, Secretory diarrhea, Hyperhidrosis, Hypoalbuminemia, Knee pain OMIM:614441
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Micrognathia, Osteoarthritis, Flexion contracture, Hyper... ORPHA:666
Cutaneous Mastocytoma
Telangiectasia of the skin, Maculopapular exanthema, Dyspnea, Diarrhea, Vomiting, Hypotension, Na... ORPHA:79455
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Decrease... ORPHA:2234
Thyrotoxic Periodic Paralysis
Decreased urinary potassium, Tremor, Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Impaired ... ORPHA:79102
46,Xy Sex Reversal 1
Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Elevated circulating fo... OMIM:400044
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Diabetes melli... ORPHA:2237
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postp... ORPHA:2089
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Tented upper lip vermilion, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal... OMIM:618476
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Anemia, Leukopeni... OMIM:618116
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Joint laxity, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivi... OMIM:300967
Neuroendocrine Tumor Of Stomach
Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ventricular fa... ORPHA:100075
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Serotonin Syndrome
Restlessness, Tachycardia, Diarrhea, Tachypnea, Rhabdomyolysis, Hypertension, Seizure, Agitation,... ORPHA:43116
Cystic Echinococcosis
Invasive parasitic infection, Abscess, Eosinophilia, Unusual infection, Bone cyst, Renal cyst, We... ORPHA:400
46,Xy Sex Reversal 5
Elevated circulating follicle stimulating hormone level OMIM:613080
Visceral Myopathy 1
Gastroparesis, Abdominal pain, Diarrhea, Megacystis, Hydronephrosis, Vomiting, Constipation, Urin... OMIM:155310
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Portal hypertension, Anemia, Pulmonary fibrosis, Type I diabetes mellitus, Emphysema,... OMIM:620365
Cockayne Syndrome A
Mandibular prognathia, Hip contracture, Anhidrosis, Dry hair, Delayed eruption of primary teeth, ... OMIM:216400
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Mandibular prognathia, Hyperextensibility of the finger joints, Smooth philtrum, Dental crowding,... OMIM:309583
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... OMIM:617168
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Meckel Syndrome, Type 6
Absent gallbladder, Abnormal internal genitalia, Renal cyst, Horseshoe kidney, Cystic liver disea... OMIM:612284
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Palmoplantar hyperhidr... OMIM:610644
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Aggressive behavior, Dysplastic corpus callosum, Asthma, Periventricular cysts, Thick corpus call... ORPHA:544488
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Ab... OMIM:610628
Gaucher Disease Type 3
Recurrent respiratory infections, Increased bone mineral density, Pancytopenia, Splenomegaly, Ost... ORPHA:77261
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate OMIM:242530
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Pruritus,... ORPHA:90158
Nocardiosis
Respiratory distress, Liver abscess, Anorexia, Nonproductive cough, Lymphadenitis, Conjunctivitis... ORPHA:31204
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... OMIM:314050
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Congenital Disorder Of Glycosylation, Type Iit
Decreased HDL cholesterol concentration, Urinary incontinence, Pineal cyst, Constipation, Decreas... OMIM:618885
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Hypoplasia of penis, Renal insufficiency, Abnormal testis morphology, Crypt... ORPHA:96147
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, M... ORPHA:904
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Abnormal repetitive mannerisms, Hypothyroidism ORPHA:2479
Immune-Mediated Necrotizing Myopathy
Myositis, Skin rash, Elevated circulating creatine kinase concentration, Raynaud phenomenon, Myoc... ORPHA:206569
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Facial palsy, Nausea, ... ORPHA:31826
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Recurrent fractures, Micrognathia, Persistence of primary teeth, Thrombocytopenia, ... ORPHA:2785
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Osteolysis, Hyperhi... ORPHA:35687
Gastrocutaneous Syndrome
Coronary artery atherosclerosis, Type II diabetes mellitus ORPHA:2069
Dworschak-Punetha Neurodevelopmental Syndrome
Microcephaly, Dysplastic corpus callosum, Seizure, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... OMIM:202010
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Obesity, Renal hypoplasia, Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Fl... ORPHA:87503
Antisynthetase Syndrome
Aortic regurgitation, Recurrent respiratory infections, Myositis, Skin rash, Elevated circulating... ORPHA:81
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Orthostatic hypotension, Macrocytic anemia, Hypoglycemia, Eosinophilia, Anorex... ORPHA:199299
Rett Syndrome
Increased serum pyruvate, Hyperammonemia, Agitation, Cholecystitis, Increased serum leptin, Abnor... ORPHA:778
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Arthrogryposis multiplex congenita, Enamel hypoplasia, Nail dystrophy, Oral mucosal blisters OMIM:226730
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Tarsal synostosis, Elevated circulating luteinizing hormone level... OMIM:609441
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Bifid scrotum, Bicuspid aortic valve, Tics, Vomiting, Compulsive behaviors, Otitis med... OMIM:619475
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Decreased skull ossification, Calvarial osteosclerosis, Anemia OMIM:244460
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Ectopic kidney, Gastroesophageal reflux, Atrial septal defect, Hypothyroid... OMIM:607872
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Elevated circulating C-reactive protein concentration, Abnormality of the... ORPHA:449563
Joubert Syndrome 23
Dysplastic corpus callosum, Tachypnea, Apnea OMIM:616490
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Recurrent viral infections, Intraventricular hemorrhage, ... ORPHA:420741
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Hypertrophic cardiomyopathy, Seizure OMIM:618810
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Meningitis, Cervical lymphadeno... OMIM:617718
Right Atrial Isomerism
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inve... OMIM:208530
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Hypouricemia, Renal, 1
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... OMIM:220150
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Anisocytosis, Microcephaly, Dysplastic corpus callosum, Flexion contracture, Camptodactyly OMIM:604273
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Small for gestational age, Fing... ORPHA:221008
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Ocular albinism, Hematochezia, Cardiomyopathy, Restrictive ve... OMIM:203300
Sarcoidosis, Susceptibility To, 1
Anorexia, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Pericardial effusion, B... OMIM:181000
Blomstrand Lethal Chondrodysplasia
Natal tooth, Increased bone mineral density, Protruding tongue, Micrognathia, Long philtrum, Mala... ORPHA:50945
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Hyperlipidemia, Intracranial hemorrhage, Hematuria, Menor... ORPHA:35909
Chronic Mucocutaneous Candidiasis
Dyspareunia, Recurrent urinary tract infections, Recurrent respiratory infections, Skin rash, Abn... ORPHA:1334
Familial Hypocalciuric Hypercalcemia
Fatigue, Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increas... ORPHA:405
Mandibuloacral Dysplasia With Type B Lipodystrophy
Prominent superficial veins, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemi... OMIM:608612
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Ataxia With Vitamin E Deficiency
Cerebellar atrophy, Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, D... OMIM:277460
Müllerian Aplasia And Hyperandrogenism
Acne, Renal agenesis, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum test... ORPHA:247768
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Eosinophilia, Cardiac arrest, Pustule, Myocarditis, Hepatitis, Thyroiditis, Lymphadeno... ORPHA:139402
Faciocardiomelic Syndrome
Osteopenia, Micrognathia, Dental malocclusion, Wide mouth, Short eyelashes, Long philtrum, Thin b... OMIM:612731
Gamma-Heavy Chain Disease
Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytop... ORPHA:100026
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Neonatal Lupus Erythematosus
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Skin rash, Aplastic anemia, Maculopapular ... ORPHA:398124
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Stomatitis, Elevated circulating growth hormone conc... ORPHA:97280
Mullerian Aplasia And Hyperandrogenism
Acne, Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentra... OMIM:158330
Mevalonic Aciduria
Normocytic hypoplastic anemia, Skin rash, Elevated circulating creatine kinase concentration, Ele... OMIM:610377
Dengue Fever
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cerebral hemorrhage, Diarrhea, Cardiorespirato... ORPHA:99828
Milroy Disease
Hydrocele testis, Angiosarcoma, Neoplasm of the skin, Cellulitis, Erysipelas ORPHA:79452
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Generalized-onset seizure, Simplified gyral pattern, Gastroesophageal r... ORPHA:500150
Bullous Pemphigoid
Diabetes mellitus, Eczema, Psoriasiform dermatitis, Recurrent infections ORPHA:703
Pallister-Hall Syndrome
Adrenal hypoplasia, Gonadotropin deficiency, Bifid uvula, Microretrognathia, Accessory oral frenu... ORPHA:672
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Microphthalmia, Syndromic 9
Atrial septal defect, Pulmonary artery atresia, Pelvic kidney, Single ventricle, Cryptorchidism, ... OMIM:601186
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Microcephaly, Dysplastic corpus callosum, Muscular ventricular septal defect, Head-banging, Intri... OMIM:618569
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ... ORPHA:289390
Williams-Beuren Syndrome
Bicuspid aortic valve, Sudden death, Nephrocalcinosis, Glucose intolerance, Early onset of sexual... OMIM:194050
Dubowitz Syndrome
Hyperactivity, Inguinal hernia, Aplastic anemia, Eczema, Hypospadias, Postnatal growth retardatio... OMIM:223370
Mednik Syndrome
Diarrhea, Cholestasis, Hepatic fibrosis, Cirrhosis, Increased circulating very long-chain fatty a... OMIM:609313
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Glycosuria OMIM:613388
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Extramedullary hematopoiesis, Rickets, Prolonged prothrombin time, Steatorrhea ORPHA:79303
Sepsis In Premature Infants
Tachycardia, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Diarrhea, Leukocytosis, Abno... ORPHA:90051
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Cerebral calcification, Bilateral tonic-clonic seizure, Microcephaly, Tonic seizur... OMIM:617281
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Weight ... ORPHA:79078
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Seizure, Emphysema, Nonarteriosclerotic cerebral calcification, Portal hypertension OMIM:210050
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... OMIM:201750
Normosmic Congenital Hypogonadotropic Hypogonadism
Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermi... ORPHA:432
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Decreased circulat... OMIM:614841
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Highly arched eyebrow, Abnormality of the dentition, Low anterior hairline, Low posterior hairlin... OMIM:615802
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Pruritus, Lymphoma, Lymphadenopathy, Neoplasm of the skin OMIM:254400
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, Sepsis, T lymphocytopenia, B lymphocytopenia, ... OMIM:612260
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... ORPHA:562639
Livedoid Vasculopathy
Pancytopenia, Diabetes mellitus, Recurrent skin infections, Superficial dermal perivascular infla... ORPHA:542643
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal bone structure, Coarse metaphy... ORPHA:93160
B4Galt1-Cdg
Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentration, Splenom... ORPHA:79332
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Pruritus, Incre... ORPHA:2314
Juvenile Polyposis Syndrome
Abdominal pain, Diarrhea, Hematochezia, Hypokalemia, Hypoalbuminemia, Failure to thrive OMIM:174900
Hypercholanemia, Familial 1
Rickets, Steatorrhea OMIM:607748
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Joint laxity, Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal ... ORPHA:466791
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Hepatomegaly, Renal cyst, Hepatic fibrosis, Cirrhosis OMIM:601539
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Coronary artery ather... OMIM:144010
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Vomiting OMIM:602722
Desmosterolosis
Micrognathia, Generalized osteosclerosis, Alveolar ridge overgrowth, Cleft palate, Gingival fibro... OMIM:602398
8P23.1 Microdeletion Syndrome
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Pulmonary artery stenosis, Atrioventricula... ORPHA:251071
Somatostatinoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... ORPHA:97283
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia ORPHA:3240
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Bone cyst, Renal cyst, Weight loss... ORPHA:284
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... ORPHA:97282
Aa Amyloidosis
Chronic diarrhea, Abnormal heart morphology, Vomiting, Hypotension, Nausea ORPHA:85445
Zttk Syndrome
Aortic regurgitation, Unilateral lung agenesis, Ventricular septal defect, Craniosynostosis, Dysp... OMIM:617140
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Small scrotum, Eczema, Aggressive behavior, Hair-pulling, Recurrent pneumonia, Polyp... OMIM:620330
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice ORPHA:529799
Septo-Optic Dysplasia Spectrum
Fatigue, Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, O... ORPHA:3157
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Renal hypoplasia... OMIM:269860
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Abnormality of the menstrual cycle, Orchitis, Pr... ORPHA:556
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Cardiac-Urogenital Syndrome
Bifid scrotum, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Pe... OMIM:618280
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Pneumonia, Camptodactyly of finger, Microcephaly, Respiratory insuffi... ORPHA:2135
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Small for gestational age, Aplastic anemia, Fing... ORPHA:221016
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Primar... OMIM:146255
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hemolytic anemia, Chilblains, Vasculitis, Hepatitis, Hematochezia, Nephrotic ... OMIM:615846
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Rubinstein-Taybi Syndrome 1
Dental crowding, Premature thelarche, Micrognathia, Bilateral cryptorchidism, High, narrow palate... OMIM:180849
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis OMIM:618398
Keutel Syndrome
Peripheral pulmonary artery stenosis, Sinusitis, Cerebral calcification, Ventricular septal defec... OMIM:245150
Osteogenesis Imperfecta, Type Vii
Osteopenia, Recurrent fractures, Multiple prenatal fractures, Wide anterior fontanel, Decreased c... OMIM:610682
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Gastroesophageal reflux, Hypocalcemia, Hypoplasia of the thymus,... ORPHA:567
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth,... ORPHA:79408
Say-Barber-Miller Syndrome
Eczema, Erythema nodosum, Cryptorchidism, Transient hypogammaglobulinemia of infancy, Elbow flexi... ORPHA:3132
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple... OMIM:249100
Frasier Syndrome
Decreased serum estradiol, Increased circulating gonadotropin level, Streak ovary, Hypergonadotro... ORPHA:347
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abnormality of the spleen, Wheezing, Diarrhea, Vomiting, Lymphocytos... ORPHA:79456
Kid Syndrome
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Sepsis, Recurrent cutaneous... ORPHA:477
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Sparse scalp hair, Distal symphalangism, Precocious puberty, Type II diabetes mellitus, Microdont... OMIM:210720
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarge... OMIM:200995
Gaucher Disease
Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Joi... ORPHA:355
Codas Syndrome
Delayed eruption of teeth, Cryptorchidism, Generalized joint laxity, Delayed ossification of carp... OMIM:600373
Developmental And Epileptic Encephalopathy 100
Recurrent respiratory infections, Tented upper lip vermilion, Micrognathia, Protruding tongue, Bi... OMIM:619777
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circul... ORPHA:158048
Grfoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... ORPHA:97261
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Satoyoshi Syndrome
Fatigue, Diarrhea, Hypoplasia of the uterus, Mildly elevated creatine kinase, Amenorrhea OMIM:600705
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Chronic Thromboembolic Pulmonary Hypertension
Fatigue, Osteomyelitis, Cardiac shunt, Elevated circulating C-reactive protein concentration, Rig... ORPHA:70591
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Narcolepsy OMIM:604121
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Arteriosclerosis, Skin rash, Cachexia ORPHA:220295
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Tooth abscess, Rickets, Osteomalacia ORPHA:89937
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal fistula, Recurrent bronch... OMIM:612567
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Anorexia, Elevated circulating C-reactive protein concentration, Leu... ORPHA:50918
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Carcinoid tumor, Pancreat... OMIM:610755
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Familial Glucocorticoid Deficiency
Ketotic hypoglycemia, Anorexia, Diarrhea, Hypoglycemic seizures, Vomiting, Constipation, Hypotens... ORPHA:361
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Myelodysplasia, Thrombocytopenia, ... ORPHA:508542
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Recurrent pharyng... ORPHA:293978
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Recurrent respiratory infections, Recurrent fractures, Craniosynostosi... ORPHA:667
Ppoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... ORPHA:97278
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Lack of f... ORPHA:90156
Beckwith-Wiedemann Syndrome
Ureteral duplication, Large for gestational age, Cardiomegaly, Vesicoureteral reflux, Hepatoblast... ORPHA:116
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Cystic Fibrosis
Osteopenia, Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurr... ORPHA:586
Wiedemann-Rautenstrauch Syndrome
Prominent scalp veins, Hypertriglyceridemia, Small for gestational age, Pneumonia, Hypospadias, S... OMIM:264090
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Pseudohypoparathyroidism, Type Ib
Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le... OMIM:603233
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Hydroxykynureninuria
Tachycardia, Breathing dysregulation, Hypotension, Stomatitis, Abnormal repetitive mannerisms ORPHA:79155
Severe Generalized Junctional Epidermolysis Bullosa
Alopecia, Recurrent urinary tract infections, Erosion of oral mucosa, Abnormal oral mucosa morpho... ORPHA:79404
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Myelodysplasia, Postnatal growth ... OMIM:617827
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density ORPHA:157215
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Neuronal loss in centra... OMIM:607485
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia, Glycosuria OMIM:134600
Ring Chromosome 12 Syndrome
Acne, Cryptorchidism, Glandular hypospadias, Uterine leiomyoma, Hemangioma, Hypothyroidism, Breas... ORPHA:1439
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Osteoarthritis, Rickets, Osteomalacia OMIM:307800
Thrombocytopenia 1
Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased me... OMIM:313900
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Splenomegaly, Diarrhea, Rickets, Steatorrhea OMIM:607765
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Apnea, Diarrhea, Tongue thrusting, Cardiorespiratory arrest, Gastroesophageal reflux... OMIM:608643
Colchicine Poisoning
Respiratory distress, Myocarditis, Congestive heart failure, Diarrhea, Hypovolemia, Leukocytosis,... ORPHA:31824
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Acute Adrenal Insufficiency
Normocytic anemia, Orthostatic hypotension, Salt craving, Hypoglycemia, Myocardial infarction, An... ORPHA:95409
Dyskeratosis Congenita, Autosomal Recessive 1
Hepatic fibrosis OMIM:224230
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Decreased respon... OMIM:619503
Common Variable Immunodeficiency
Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splen... ORPHA:1572
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Palatine myxoma, Pituitary adenoma, Pheochromo... OMIM:160980
Cholera
Tachycardia, Hypoglycemia, Diarrhea, Tachypnea, Seizure, Hypovolemic shock, Vomiting, Hypotension... ORPHA:173
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Recurrent respiratory infections, Skin rash, Elevated circulating C-reactive p... OMIM:301074
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Thrombocytopenia, Leukocytosis, Rhabdomyolysis, Dysphagia, Hyper... ORPHA:94093
Primary Hyperoxaluria
Recurrent fractures, Abnormality of the dentition, Generalized osteosclerosis, Rootless teeth, Ab... ORPHA:416
Acute Liver Failure
Shock, Gastrointestinal hemorrhage, Skin rash, Hypoglycemia, Nausea, Diarrhea, Abnormal respirato... ORPHA:90062
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Goiter, Pituitar... ORPHA:733
Bardet-Biedl Syndrome 6
Diabetes mellitus, Hypospadias, External genital hypoplasia, Obesity, Renal cyst, Vaginal atresia OMIM:605231
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Sepsis, Abnormal left ventricular function, Leukopenia, A... OMIM:619991
Combined Oxidative Phosphorylation Deficiency 12
Dysplastic corpus callosum, Ragged-red muscle fibers, Leukoencephalopathy, Seizure, Hypoplasia of... OMIM:614924
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Gastroesophageal reflux, Compulsive behaviors, Otitis media, Atrial septal... ORPHA:353281
Meckel Syndrome
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr... ORPHA:564
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Liver abscess, Severe pe... ORPHA:678
Inhalational Anthrax
Respiratory distress, Dyspnea, Focal autonomic seizure with epigastric sensation/nausea/vomiting/... ORPHA:247257
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Abdominal pain, Chronic pancreatitis, Insulin-dependent but ketosis-res... OMIM:608189
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Recurrent respiratory infections, Diarrhea, Vomiting, Hypotension OMIM:264350
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Aggressive behavior, Increased body weight, Horseshoe kidney, Self-injurious behavior, Micropenis OMIM:300860
Digeorge Syndrome
Impaired T cell function, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the t... OMIM:188400
Ovarian Dysgenesis 2
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... OMIM:300510
Generalized Arterial Calcification Of Infancy
Respiratory distress, Ventricular hypertrophy, Cerebral calcification, Transient ischemic attack,... ORPHA:51608
Addison Disease
Normocytic anemia, Orthostatic hypotension, Salt craving, Hypoglycemia, Anorexia, Thiamine-respon... ORPHA:85138
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Distal Deletion 12Q
Ectopic kidney, Biliary atresia, Proportionate tall stature, Vesicoureteral reflux, Micropenis, P... ORPHA:96149
Plague
Respiratory distress, Chapped lip, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pne... ORPHA:707
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Join... OMIM:613679
46,Xx Sex Reversal 1
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:400045
Distal Renal Tubular Acidosis
Hemolytic anemia, Osteomalacia, Respiratory insufficiency due to muscle weakness, Diarrhea, Ricke... ORPHA:18
Somatomammotropinoma
Mandibular prognathia, Broad jaw, Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circ... ORPHA:314769
Leptospirosis
Respiratory distress, Pericarditis, Skin rash, First degree atrioventricular block, Anorexia, Dia... ORPHA:509
Perry Syndrome
Central hypoventilation, Hypotension ORPHA:178509
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Seizure, Hypotension ORPHA:91354
Frank-Ter Haar Syndrome
Osteopenia, Thin upper lip vermilion, Micrognathia, Wide anterior fontanel, Osteoporosis, Gingiva... OMIM:249420
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Recurrent respiratory infections, Inguinal hernia, Omphalocele, Eczema, Abnormal de... ORPHA:2273
Lymphedema-Distichiasis Syndrome
Recurrent urinary tract infections, Diabetes mellitus, Recurrent skin infections, Tubulointerstit... ORPHA:33001
Fowler Urethral Sphincter Dysfunction Syndrome
Acne, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures, Glycosuria OMIM:268315
Infantile Nephropathic Cystinosis
Rickets, Abnormal cerebral white matter morphology, Constipation, Vomiting, Glycosuria, Polydipsia ORPHA:411629
Gitelman Syndrome
Prolonged QT interval, Salt craving, Rhabdomyolysis, Ventricular tachycardia, Seizure, Vomiting, ... OMIM:263800
Blepharophimosis, Ptosis, And Epicanthus Inversus
Sparse pubic hair, Increased circulating gonadotropin level, High palate, Highly arched eyebrow OMIM:110100
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Diarrhea, Osteoporosis, Rickets, Iron deficiency anemia, Keratoconjunctivitis sicca... ORPHA:309031
Congenital Isolated Acth Deficiency
Neonatal hypoglycemia, Hypoglycemic seizures, Hepatitis, Hypotension ORPHA:199296
African Trypanosomiasis
Vomiting, Conjunctivitis, Iritis, Nausea, Abnormal EKG, Narcolepsy, Hepatosplenomegaly, Abnormal ... ORPHA:3385
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... OMIM:617565
Chronic Granulomatous Disease
Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, S... ORPHA:379
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uteru... OMIM:194072
Juvenile Dermatomyositis
Calcinosis, Bundle branch block, Myositis, Pericarditis, Skin rash, Elevated circulating creatine... ORPHA:93672
Occipital Horn Syndrome
Osteopenia, Cerebral calcification, Gastroparesis, Osteomalacia, Osteoporosis, Osteolysis, Ricket... ORPHA:198
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function ORPHA:30
Lacrimoauriculodentodigital Syndrome
Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Cryptorchidism, En... ORPHA:2363
Hypercholesterolemia, Familial, 1
Increased LDL cholesterol concentration, Xanthelasma, Coronary artery atherosclerosis OMIM:143890
Autosomal Dominant Hypocalcemia
Eczema, Congestive heart failure, Reduced bone mineral density, Hypotension, Arrhythmia, Abnormal... ORPHA:428
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Fanconi-Bickel Syndrome
Osteomalacia, Rickets, Fasting hypoglycemia, Glycosuria, Postprandial hyperglycemia OMIM:227810
Aicardi-Goutières Syndrome
Enchondroma, Myositis, Diabetes mellitus, Multiple joint contractures, Chilblains, Lipoatrophy, N... ORPHA:51
Cystinosis, Nephropathic
Skeletal muscle atrophy, Cerebral calcification, Diabetes mellitus, Oral-pharyngeal dysphagia, Sp... OMIM:219800
Listeriosis
Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Conjunctivitis... ORPHA:533
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Block vertebrae, Tarsal synostosis, Capitate-hamate fusion, Cleft palate, Carpa... OMIM:272460
Renal Tubular Dysgenesis
Respiratory insufficiency, Pulmonary hypoplasia, Hypotension, Microcephaly OMIM:267430
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Joint laxity, Accessory spleen, Posterolateral diaphragmatic hernia, Morgagni diaphra... OMIM:613177
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Enamel hypoplasia, Nail dystrophy, Amelogenesis imperfecta OMIM:245660
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Proteinuria, Remnants of the hyaloid vascular sy... OMIM:609049
Chromosome 17Q12 Deletion Syndrome
Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent... OMIM:614527
Immunoglobulin A Vasculitis
Episcleritis, Gastrointestinal hemorrhage, Skin rash, Anorexia, Orchitis, Pustule, Vasculitis, Ar... ORPHA:761
Igg4-Related Thyroid Disease
Sclerosing cholangitis, Increased circulating IgG4 level, Hashimoto thyroiditis, Thyroiditis ORPHA:64744
Weill-Marchesani Syndrome 1
Joint stiffness, Hypoplasia of the maxilla, Narrow palate, Tooth malposition, Thin bony cortex OMIM:277600
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc... ORPHA:555905
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Intermittent diarrhea, Iron de... ORPHA:100078
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pruritus, Pustule, Leuk... ORPHA:293173
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Gastroesophageal reflux, Compulsive behaviors, Otitis media, Atrial septal... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Gastroesophageal reflux, Compulsive behaviors, Otitis media, Atrial septal... ORPHA:353277
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Ventricular septal defect, Co... ORPHA:444077
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:963
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:614842
Ovarian Dysgenesis 6
Absence of pubertal development, Hypergonadotropic hypogonadism, Primary amenorrhea, Hypoplasia o... OMIM:618078
Amed Syndrome, Digenic
Adrenal hypoplasia, Hypoplasia of the uterus, Attention deficit hyperactivity disorder, Failure t... OMIM:619151
Sarcoidosis
Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Tubulointerstitial nephrit... ORPHA:797
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... OMIM:263400
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia, Overgrowth, Abnormal tricuspid valve morphology ORPHA:199276
Congenital Disorder Of Glycosylation, Type Iim
Mandibular prognathia, Exaggerated cupid's bow, Open mouth, Recurrent infections, Fused teeth, Hi... OMIM:300896
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Highly arched eyebrow, Elevated circulating luteini... ORPHA:572333
Pde4D Haploinsufficiency Syndrome
Joint laxity, Seizure, Hypotension ORPHA:439822
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Inguinal hernia, Superficial dermal perivascular inflammatory infiltrate, Severe B lymphocytopeni... ORPHA:83617
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Narcolepsy ORPHA:314404
Vascular Ehlers-Danlos Syndrome
Osteoarthritis, Periodontitis, Uterine rupture, Internal hemorrhage, Peripheral arteriovenous fis... ORPHA:286
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Thrombocytopenia, Supravalvar pulmonary stenosis, Vitreo... OMIM:620185
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Ventricular septal defect, Seborrheic dermatitis, Pancre... OMIM:274000
Griscelli Syndrome Type 2
Splenomegaly, Hepatomegaly, Hyperlipidemia, Jaundice ORPHA:79477
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Abnormal cardiac ventricular function, Microcephaly, Congestive heart failure, Dila... ORPHA:90349
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Recurrent candida infections OMIM:201100
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Severe postnatal growth retardation, Anteri... OMIM:266810
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Recurrent p... OMIM:614098
Behcet Syndrome
Genital ulcers, Erythema nodosum, Iridocyclitis, Raynaud phenomenon, Epididymitis, Arthritis, Iritis OMIM:109650
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Chorioretinal coloboma ORPHA:231736
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Rhabdomyolysis, Hypotension OMIM:145600
Focal Dermal Hypoplasia
Joint laxity, Delayed eruption of teeth, Brittle hair, Supernumerary nipple, Cleft upper lip, Cry... OMIM:305600
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca OMIM:617321
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Neop... ORPHA:793
Spondyloocular Syndrome
Osteopenia, Unilateral cryptorchidism, Abnormality of the dentition, Low posterior hairline, Thin... OMIM:605822
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Diarrhea, Vomiting, Hypotension, Dysphagia, Nausea, Inspiratory st... ORPHA:100050
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia,... OMIM:601076
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism OMIM:614851
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Neonatal Marfan Syndrome
Iridodonesis, Neonatal respiratory distress, Tricuspid regurgitation, Abnormal cardiac ventricle ... ORPHA:284979
Ehlers-Danlos Syndrome, Vascular Type
Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Cryptorchidism, Descending aort... OMIM:130050
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Vomiting, Hypotension ORPHA:556037
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Increased circulating free fatty acid level, Dilated cardio... OMIM:610768
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax... ORPHA:538
Viss Syndrome
Joint laxity, Chronic gastritis, Epidural hemorrhage, Retinal detachment, Eczema, Generalized joi... OMIM:619472
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Overriding aorta, Hypospadias, Ventricular septal defect, Ovotestis, Juncti... OMIM:309801
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Vomiting, Hypotension ORPHA:556030
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Epileptic spasm, Osteomalacia, Microcephaly, Dyspnea, ... ORPHA:2636
Perlman Syndrome
Nephrogenic rest, Hypoglycemia, Renal hamartoma, Large for gestational age, Cryptorchidism, Nephr... OMIM:267000
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Dyspnea, Bronchiectasi... OMIM:123700
Marfan Syndrome
Osteopenia, Pulmonary artery dilatation, Mitral valve calcification, Arthralgia/arthritis, Sponta... ORPHA:558
Pruritic Urticarial Papules And Plaques Of Pregnancy
Eczematoid dermatitis, Increased body weight ORPHA:64745
Neuroendocrine Neoplasm Of Appendix
Mechanical ileus, Tricuspid stenosis, Anorexia, Asthma, Heart murmur, Protracted diarrhea, Consti... ORPHA:100079
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Elevated circulating C-reactive protein concentra... ORPHA:79099
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Vomiting, Hypotension OMIM:177735
Kindler Epidermolysis Bullosa
Recurrent skin infections, Abnormal dental enamel morphology, Camptodactyly of finger, Phimosis, ... ORPHA:2908
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Corticosteroid-Binding Globulin Deficiency
Anemia, Hypertension, Hypotension OMIM:611489
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Corticosterone Methyloxidase Type I Deficiency
Vomiting, Hypotension OMIM:203400
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Crackles, Nausea, Tachypnea, Rhabdomyolysis, Seizure, Vomiting, ST segment... ORPHA:466650
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Horseshoe kidney, Abnormal cardiac septum morphology, Aplasia of the u... ORPHA:3320
Uremic Pruritus
Inflammatory abnormality of the skin, Recurrent skin infections, Hypercalcemia, Renal hypophospha... ORPHA:94059
Weill-Marchesani Syndrome 2
Joint stiffness, Hypoplasia of the maxilla, Elbow flexion contracture, Narrow palate, High palate... OMIM:608328
Witteveen-Kolk Syndrome
Joint laxity, Hyperactivity, Eczema, Congenital diaphragmatic hernia, Aggressive behavior, Microc... OMIM:613406
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Splenopancreatic fusion, Macroglossia, Sclerosis of skull base, ... OMIM:269150
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Fasciitis, Osteomyelitis, Hyperactivity, Abscess, Impulsivity, Orthostatic hypotensi... ORPHA:642
Okamoto Syndrome
Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Bifid uterus... ORPHA:2729
Fragile X-Associated Tremor/Ataxia Syndrome
Bowel incontinence, Dysphagia, Hypertension, Compulsive behaviors, Hypotension, Cerebral cortical... ORPHA:93256
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Small for gestational age, Hypospadias, Vaginal neoplasm, Decrea... ORPHA:1916
Autosomal Dominant Cutis Laxa
Osteopenia, Aortic regurgitation, Joint laxity, Microcephaly, Congestive heart failure, Dilatatio... ORPHA:90348
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Progeroid Short Stature With Pigmented Nevi
Allergic rhinitis, Allergic conjunctivitis, Impaired T cell function, Recurrent viral infections OMIM:176690
Exstrophy-Epispadias Complex
Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera... ORPHA:322
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Hyphema, Uveitis, Retinal nonattachment, Retinal fold OMIM:221900
Kawasaki Disease
Pericarditis, Skin rash, Myocarditis, Leukocytosis, Recurrent pharyngitis, Vasculitis, Hepatitis,... ORPHA:2331
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pne... ORPHA:95455
Loeys-Dietz Syndrome
Tall stature, Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, Uterine rupture, Aor... ORPHA:60030
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Junctional Epidermolysis Bullosa With Pyloric Atresia
Enamel hypoplasia, Nail dystrophy, Oral mucosal blisters ORPHA:79403
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Hyperlipidemia, Insulin resistance, Delayed puberty ORPHA:90154
Craniotubular Dysplasia, Ikegawa Type
Thick lower lip vermilion, Sclerosis of skull base, Long philtrum, Thick upper lip vermilion, Thi... OMIM:619727
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Ret... ORPHA:90340
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... OMIM:614748
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp... OMIM:614643
Knobloch Syndrome 2
Recurrent respiratory infections, Enamel hypoplasia, Micrognathia OMIM:618458
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Osteomalacia, Increased susceptibility to fractures, Pulmonary fibrosis, Glycosuria... ORPHA:3337
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Cheilitis, Lymphadenopathy ORPHA:2483
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Bilateral renal agenesis, Attentio... OMIM:617914
Norrie Disease
Diabetes mellitus, Cachexia, Venous insufficiency, Cryptorchidism, Delayed puberty, Self-injuriou... ORPHA:649
Wolf-Hirschhorn Syndrome
Accessory spleen, Small for gestational age, Hypospadias, Ventricular septal defect, Precocious p... OMIM:194190
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Hyperlipidemia, Arthralgia ORPHA:90153
White-Kernohan Syndrome
Joint laxity, Dysplastic corpus callosum, Gastroesophageal reflux, Attention deficit hyperactivit... OMIM:619426
Genitourinary And/Or Brain Malformation Syndrome
Absent septum pellucidum, Joint stiffness, Dysplastic corpus callosum, Colpocephaly, Secondary mi... OMIM:618820
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension OMIM:620125
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Postna... ORPHA:709
Familial Hypoaldosteronism
Diarrhea, Orthostatic hypotension, Hypovolemia, Hypotension ORPHA:427
Lumbar Syndrome
Bifid scrotum, Hypospadias, Renal agenesis, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, ... ORPHA:83628
Townes-Brocks Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Small for gestational age, Hy... OMIM:107480
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Delayed eruption of primary teeth, Carious teeth, Xerostomia, Lacrimal g... OMIM:149730
Orotic Aciduria
Impaired T cell function OMIM:258900
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Cryptorchidism, Uterus ... ORPHA:93271
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Ventricular septal defect, Aggressive behavior, Postnatal growth retard... OMIM:135900
Pallister-Killian Syndrome
Tented upper lip vermilion, Micrognathia, Flexion contracture, Camptodactyly of 2nd-5th fingers, ... OMIM:601803
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
Hyperactivity, Unilateral renal agenesis, Hypoplastic aortic arch, Aplasia of the vagina, Aplasia... ORPHA:457284
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Bifid uterus, Cryptorchidism, Epispadi... OMIM:258040
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Peters-Plus Syndrome
Hypoplasia of the vagina, Ureteral duplication, Hypospadias, Bilobate gallbladder, Ventricular se... OMIM:261540
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system OMIM:257910
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, Attention deficit hyperactivi... OMIM:614083
Microphthalmia, Syndromic 2
Retinal detachment, Hypospadias, Remnants of the hyaloid vascular system, Flexion contracture, Co... OMIM:300166
Limb-Mammary Syndrome
Psoriasiform dermatitis, Chronic irritative conjunctivitis, Primary amenorrhea, Hypohidrosis, Apl... ORPHA:69085
Neu-Laxova Syndrome 1
Ventricular septal defect, Renal agenesis, Bifid uterus, Cryptorchidism, Patent ductus arteriosus... OMIM:256520
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H... ORPHA:3109
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Retinal hamartoma, Abnormal optic nerve morphology, Epir... ORPHA:637
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... OMIM:271520
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia OMIM:617466
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Ventricular septal defect, Bifid uterus, Complete atrioventricular... OMIM:236680
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Bartter Syndrome, Type 3
Hypotension OMIM:607364
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Neuroocular Syndrome
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Remnants of the hyaloid vascula... OMIM:619539
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus OMIM:276820
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Chorioretinal coloboma 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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