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Gene: Bmal1 MGI:1096381

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
basic helix-loop-helix ARNT like 1
Synonyms:
Arnt3,  bHLHe5,  Arntl,  MOP3

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Bmal1 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 Bmal1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... OMIM:232700
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased adi... OMIM:608600
Coronary Artery Disease, Autosomal Dominant, 1
Obesity, Hypercholesterolemia, Diabetes mellitus OMIM:608320
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Increased LDL cholesterol concentration, Obesity, Type II diabetes mellitus, ... OMIM:615703
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Hepatic steatosi... OMIM:612526
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... OMIM:604367
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Myopathy, Hypertriglyceridemia ORPHA:366
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Reduced subcutaneous adipose tissue, Polyc... ORPHA:280356
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... ORPHA:71529
Lipase Deficiency, Combined
Pancreatitis, Type II diabetes mellitus, Lipodystrophy, Hypertriglyceridemia OMIM:246650
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Alopecia, Increased subcutaneous... ORPHA:2457
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... OMIM:610947
Thyroid Hormone Metabolism, Abnormal, 2
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... OMIM:619855
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In... OMIM:619868
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Thrombocytosis, Leukocytosis, M... OMIM:619281
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... OMIM:306000
Immunodeficiency 69
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... OMIM:618963
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia OMIM:619175
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Hyperglycemia, Hyp... OMIM:151660
Hypertriglyceridemia 1
Hypopituitarism, Increased VLDL cholesterol concentration, Glucose intolerance, Hypertriglyceridemia OMIM:145750
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert... OMIM:613877
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... OMIM:620211
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... ORPHA:436182
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Anemia of inadequate productio... OMIM:617780
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva... ORPHA:71212
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Increase... OMIM:209950
Galactokinase Deficiency
Small for gestational age, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly,... ORPHA:79237
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... ORPHA:435660
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Failure to thrive, Hypertrichosis, Hyperinsuli... ORPHA:528
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Hyperglycemia, Transie... ORPHA:99886
Hypothyroidism, Congenital, Nongoitrous, 8
Central hypothyroidism, Hypercholesterolemia, Inappropriately normal thyroid-stimulating hormone ... OMIM:301033
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Hyperlipidemia, Gait disturbance, Proximal amyotrophy, Mildly elevated creatine ki... OMIM:604484
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Ataxia, Generalized lipodystrophy, Hyperinsulinemia, Gait ataxia, Hepatic ste... ORPHA:363400
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Roifman Syndrome
Recurrent otitis media, Postnatal growth retardation, Hepatosplenomegaly, Hip contracture, Irregu... ORPHA:353298
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... ORPHA:435651
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Elevated circulatin... OMIM:617872
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Elevated circulating hepatic transaminase concentration, Glycosuria, ... ORPHA:2089
Sitosterolemia 2
Tendon xanthomatosis, Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Proximal muscle weakness in lower limbs, Abnormal cir... ORPHA:171706
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Polyarticular arthritis, Hypereosinophilia, Splenomegaly, Corneal neovasculari... OMIM:617388
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Bilateral ptosis, Hyperglycemia, Reduced C-peptide level, Flexion contr... OMIM:618856
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Adrenal calcification, Acute... OMIM:278000
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, C... OMIM:615381
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated ... OMIM:616516
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Decreased testicular size, Obesity, Cry... OMIM:616222
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... ORPHA:86841
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Premature Ovarian Failure 2B
Female infertility, Premature ovarian insufficiency, Delayed puberty, Primary amenorrhea, Osteopo... OMIM:300604
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... OMIM:615238
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Poems Syndrome
Increased circulating prolactin concentration, Sclerosis of foot bone, Sclerosis of hand bone, Sc... ORPHA:2905
Mody
Abnormal circulating insulin concentration, Pancreatic hypoplasia, Insulin-resistant diabetes mel... ORPHA:552
Cholesteryl Ester Storage Disease
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl... ORPHA:75234
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Action tremor, Lingual dystonia, Hepatomegaly, Generalized aminoaciduria, Hypotriglyceridemia, De... ORPHA:404454
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s... ORPHA:79083
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Ataxia, Hepatomegaly, Premature ovarian insufficiency, Nephrotic syndrome, Ost... OMIM:212065
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis, Elevated ci... OMIM:604416
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Ataxia, Hypertriglyceridemia OMIM:615924
Roifman Syndrome
Recurrent otitis media, Postnatal growth retardation, Hip contracture, Ventricular septal defect,... OMIM:616651
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Hypertrigl... OMIM:617885
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Joint contracture of the hand, Bronchiectasis, Keratitis, Eczematoid dermatitis, Increased circul... OMIM:618523
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Cellulitis, Hepatic steatosis, Myopathy, Polycystic ovaries, Generalized hirs... ORPHA:2348
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count OMIM:613495
Citrullinemia, Type Ii, Neonatal-Onset
Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula... OMIM:605814
Sickle Cell Anemia
Hypochromic anemia, Persistence of hemoglobin F, Microcytic anemia, Abnormality of the spleen, Fi... ORPHA:232
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hepatic failure, Glycosuria, Failure to thrive, Abnormal hepatic glyc... ORPHA:2088
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Hypercholesterolemia, Maturity-onset diabetes of the young ORPHA:254531
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridemia, Decreased acid sphin... OMIM:607616
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Lymphopenia, Follicular hyperplasia, Telangiectasia, Pustule, Increased circulatin... OMIM:615934
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Abdominal obes... OMIM:615812
3-Methylglutaconic Aciduria, Type Viib
Hepatic steatosis, 3-Methylglutaconic aciduria, Opisthotonus, Neutropenia, Ataxia, Choreoathetosi... OMIM:616271
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Abno... OMIM:615980
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Increased circulating free fatty acid level, Sparse eyebrow, Failure to thrive, Hypoket... OMIM:610768
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul... OMIM:619924
Juvenile Arthritis
Leukocytosis, Thrombocytosis OMIM:618795
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Laron Syndrome
Hypoglycemia, Hypohidrosis, Delayed puberty, Hypercholesterolemia, Truncal obesity, Abnormality o... ORPHA:633
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Distal amyotrophy, Distal lower limb muscle weakness, Steppage gait, Hypercholes... ORPHA:94124
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... OMIM:615615
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Type I diabetes mellitus, Decreased circulating IgA level, Trans... OMIM:619707
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu... OMIM:240900
Cog4-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple... ORPHA:263501
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:26793
Essential Thrombocythemia
Acute leukemia, Prolonged bleeding time, Abnormal bleeding, Bruising susceptibility, Abnormality ... ORPHA:3318
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intoleran... OMIM:608612
22Q11.2 Deletion Syndrome
Cryptorchidism, Ventricular septal defect, Arachnodactyly, Talipes equinovarus, Short neck, Poste... ORPHA:567
Hypercholesterolemia, Familial, 4
Tendon xanthomatosis, Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyc... OMIM:603813
Scorpion Envenomation
Rhabdomyolysis, Pulmonary edema, Premature ventricular contraction, Arrhythmia, Ataxia, Tachycard... ORPHA:466677
Morgagni-Stewart-Morel Syndrome
Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hirsutism, Hypothyroidism, Hypercholest... ORPHA:77296
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Recurrent pneumonia, Nephrotic syndrome, Hemophagocytosis, Abnormal pulmonary inter... OMIM:619644
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... OMIM:616689
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cholestasis, Hepatic steatosis, Polycystic ovaries, Increased body weight, Cirrhosis, Hepatomegal... ORPHA:264580
Glycogen Storage Disease Iii
Hepatic fibrosis, Distal amyotrophy, Elevated circulating hepatic transaminase concentration, Hyp... OMIM:232400
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Skeletal muscle atroph... ORPHA:79240
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Elbow fl... OMIM:248370
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal circulating lipid concentration... ORPHA:79086
Immunodeficiency 102
Decreased circulating IgG level, Nodular regenerative hyperplasia of liver, Reduced natural kille... OMIM:301082
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Arrhythmia, Elevated jugular venous pressure, Cirrhosis, Weight loss, Hepa... ORPHA:465508
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Corneal opacity, Development... OMIM:618815
Incontinentia Pigmenti
Finger syndactyly, Supernumerary nipple, Abnormal hair morphology, Abnormal hand morphology, Abno... ORPHA:464
Dysbetalipoproteinemia
Acute pancreatitis, Tendon xanthomatosis, Decreased HDL cholesterol concentration, Xanthelasma, I... ORPHA:412
Kid Syndrome
Trichilemmoma, Posterior blepharitis, Postnatal growth retardation, Psoriasiform dermatitis, Dela... ORPHA:477
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Abnorm... OMIM:617514
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
D-Glyceric Aciduria
Increased circulating free fatty acid level, Abnormal circulating enzyme concentration or activit... ORPHA:941
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Sialidosis Type 2
Nephropathy, Pectus carinatum, Skeletal muscle atrophy, Short thorax, Umbilical hernia, Ascites, ... ORPHA:87876
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Distal amyotrophy, Steppage gait, Hypercholesterolemia, Ataxia OMIM:607250
Thrombocythemia 3
Thrombocytosis OMIM:614521
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... OMIM:618459
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn... OMIM:212050
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatic fibrosis, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, Hepatic failure, ... OMIM:620454
Cerebrooculofacioskeletal Syndrome 1
Cataract, Joint contracture of the hand, Recurrent pneumonia, Failure to thrive, Elbow flexion co... OMIM:214150
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Splenomegaly, Jaundice, Hypertriglyceridemia, Hepat... OMIM:603552
Thrombocythemia 2
Thrombocytosis OMIM:601977
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Macronodul... OMIM:615954
Progeria-Short Stature-Pigmented Nevi Syndrome
Broad-based gait, Insulin-resistant diabetes mellitus, Microcytic anemia, Hepatic steatosis, Low ... ORPHA:2959
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increased blood urea nitro... OMIM:613845
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Familial Chylomicronemia Syndrome
Acute pancreatitis, Failure to thrive, Increased circulating chylomicron concentration, Hepatospl... ORPHA:444490
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Severe failure to thrive OMIM:601410
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemopha... OMIM:308240
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Cutaneous abs... OMIM:618944
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Cataract, Microcornea, Chorea, Paresthesia, Intrauterine growth retardation, Intention tr... ORPHA:48431
Celiac Disease, Susceptibility To, 1
Postnatal growth retardation, Weight loss, Ataxia, Stomatitis, Alopecia, Rickets, Eczematoid derm... OMIM:212750
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Premature graying of hair, Hepatic steatosis, Myopathy,... ORPHA:280365
Medial Condensing Osteitis Of The Clavicle
Elevated circulating C-reactive protein concentration, Limited shoulder movement, Patchy reductio... ORPHA:57196
Heme Oxygenase 1 Deficiency
Increased circulating interleukin 6 concentration, Increased circulating ferritin concentration, ... OMIM:614034
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... OMIM:619662
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,... OMIM:603903
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Cataract, Recurrent pneumonia, Alopecia, Coarse hair, Cor pulmonale, Chronic mucocutan... OMIM:158310
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Cryptorchidism, Hypercholester... ORPHA:96184
Aspergillosis
Pneumonia, Keratitis, Abnormality of the vertebral column, Hepatitis, Increased circulating IgE l... ORPHA:1163
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hepatic fibrosis, Skeletal muscle atrophy, Hypert... OMIM:246200
Hemochromatosis, Type 4
Cataract, Impotence, Cardiomyopathy, Increased circulating ferritin concentration, Hepatic steato... OMIM:606069
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98855
Proprotein Convertase 1/3 Deficiency
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Decreased circulat... OMIM:600955
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Anemia, Hypothyroidism, Iron deficiency anemia, Thrombocytosis, Hepatomegaly, De... OMIM:226300
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98863
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hypertriglyceridemia OMIM:608898
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Increased LDL cholestero... ORPHA:98853
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Fibular apl... OMIM:274000
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased muscle mass, ... OMIM:619013
Schwartz-Jampel Syndrome, Type 1
Joint contracture of the hand, Hip contracture, Generalized hirsutism, Talipes equinovarus, Short... OMIM:255800
Hemochromatosis, Type 1
Telangiectasia, Arrhythmia, Cirrhosis, Hepatomegaly, Alopecia, Ascites, Pleural effusion, Hypogon... OMIM:235200
Acute Transverse Myelitis
Impaired vibratory sensation, Upper limb muscle weakness, Somatic sensory dysfunction, Dissociate... ORPHA:139417
Werner Syndrome
Small hand, Premature graying of hair, Slender build, White forelock, Type II diabetes mellitus, ... ORPHA:902
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Reduced C-pe... OMIM:616329
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ... OMIM:618858
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Ataxia, ... OMIM:615688
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased lecithin cholesterol acyl transferase level, Decreased HDL cholesterol concentration, H... OMIM:245900
Propionic Acidemia
Hyperglycinuria, Failure to thrive, Cardiomyopathy, Increased level of hippuric acid in urine, Ec... OMIM:606054
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Anemia, Decreased circulating complement C4 c... ORPHA:231111
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Obesity, Type II diabetes mellitus, Hypertriglyceridemia... OMIM:618620
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Hyperprolactinemia
Oligomenorrhea, Increased circulating prolactin concentration, Female infertility, Menorrhagia OMIM:615555
9Q31.1Q31.3 Microdeletion Syndrome
Highly arched eyebrow, Type II diabetes mellitus, Hypercholesterolemia, Thick hair, Overweight ORPHA:401923
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Increased circulating l... ORPHA:98908
Cernunnos-Xlf Deficiency
Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin... ORPHA:169079
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Gaucher Disease Type 1
Gingival bleeding, Decreased HDL cholesterol concentration, Hepatosplenomegaly, Pancytopenia, Hyp... ORPHA:77259
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Broad thumb, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Myopathy, Crypt... OMIM:612541
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Cardiomyopathy, Renal insufficiency, Splenomegaly, Hyperammonemia, Hepatomegal... ORPHA:79312
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Seckel Syndrome 10
Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri... OMIM:617253
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
3-Hydroxy-3-Methylglutaric Aciduria
Ataxia, 3-Methylglutaric aciduria, Hypotension, Dilated cardiomyopathy, Ketonuria, Dehydration, L... ORPHA:20
Whipple Disease
Hypotension, Gastrointestinal hemorrhage, Mediastinal lymphadenopathy, Uveitis, Splenomegaly, Inf... ORPHA:3452
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... ORPHA:1304
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:247585
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Splenomegaly... ORPHA:824
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Angioedema, Swelling of proximal interphalangeal joints, He... ORPHA:3260
Congenital Disorder Of Glycosylation, Type Iik
Growth delay, Failure to thrive, Kyphoscoliosis, Joint hypermobility, Elevated circulating creati... OMIM:614727
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Unsteady gait, Ptosis, Type II diabetes mellitus OMIM:520000
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... OMIM:618987
Reni Syndrome
Hypoalbuminemia, Ataxia, Hypoglycemia, Hypogonadism, Adrenal insufficiency, Cryptorchidism, Ptosi... OMIM:617575
Eosinophilic Granulomatosis With Polyangiitis
Abnormal pleura morphology, Hematuria, Weight loss, Tubulointerstitial nephritis, Purpura, Endoca... ORPHA:183
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... OMIM:267500
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Hemochromatosis, Type 3
Impotence, Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferrit... OMIM:604250
Alveolar Echinococcosis
Abnormal vertebral morphology, Pulmonary cyst, Abnormal mesentery morphology, Increased circulati... ORPHA:284
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Weight loss, Neutropenia, Leukemia, Gastrointest... ORPHA:98850
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypoglycemia, Acute h... OMIM:615453
Classic Galactosemia
Action tremor, Cryptorchidism, Decreased fertility in females, Primary amenorrhea, Ataxia, Premat... ORPHA:79239
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Hypoplasia of the odontoid process, Postaxial foot polydactyly, Broad phalan... ORPHA:508533
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Abnormal posturing, Delayed skeletal maturation, Failure to thrive, Elevated circ... OMIM:614857
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... OMIM:613501
Eosinophilic Fasciitis
Cellulitis, Abnormal eosinophil morphology, Fasciitis, Paresthesia, Myositis, Muscular edema, Eos... ORPHA:3165
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Recurrent otitis media, Atrial septal defect, Sterile abscess, R... OMIM:618282
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... ORPHA:859
Estrogen Resistance
Osteopenia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovaries,... OMIM:615363
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Ptosis, Hepatomegaly OMIM:610539
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Limitation of joint mobility, Impaired pain sensation, Lymphopenia, Abnormal pleura morphology, E... ORPHA:2582
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepa... OMIM:300635
Schwartz-Jampel Syndrome
Elbow dislocation, Abnormality of the ureter, Genu valgum, Hip contracture, Myopathy, Generalized... ORPHA:800
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
Warburg Micro Syndrome 1
Facial hypertrichosis, Microcornea, Failure to thrive, Hypertrichosis, External genital hypoplasi... OMIM:600118
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Muscular dystrophy, Lower limb muscle weakness, Difficulty walking, Elevated circulating creatine... OMIM:253600
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Difficulty walking, Chronic pancreatitis... OMIM:610717
Ramon Syndrome
Abnormal dental enamel morphology, Diabetes mellitus, Osteolysis ORPHA:3019
Winchester Syndrome
Carpal osteolysis, Osteolysis involving tarsal bones, Arthropathy, Hirsutism, Corneal opacity, Ge... OMIM:277950
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Excessive bleeding after a venipuncture, Incr... ORPHA:99826
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypertrichos... OMIM:262190
Beta-Ketothiolase Deficiency
Hypoglycemia, Hyperglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosis, Hepatom... ORPHA:134
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Limitation of joint mobility, Insulin-resistan... ORPHA:79474
Bacterial Toxic-Shock Syndrome
Cellulitis, Abscess, Glomerulonephritis, Tachycardia, Recurrent skin infections, Shock, Osteomyel... ORPHA:36234
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp... OMIM:241600
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Elevated circulating hepatic transaminase concentration, Generalized muscular... OMIM:608594
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Weight loss,... ORPHA:75566
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity... ORPHA:209902
Reticular Dysgenesis
Abnormality of neutrophils, Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Skin... ORPHA:33355
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Relapsing Fever
Epistaxis, Hypotension, Acute kidney injury, Abnormal bleeding, Increased total bilirubin, Elevat... ORPHA:91547
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Tangier Disease
Distal amyotrophy, Decreased HDL cholesterol concentration, Facial diplegia, Nail dystrophy, Sple... OMIM:205400
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Cholestasis, Increased LDL cholesterol concentration, H... ORPHA:247598
Cinca Syndrome
Patellar overgrowth, Lymphedema, Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymph... OMIM:607115
Incontinentia Pigmenti
Supernumerary nipple, Sparse hair, Onychogryposis, Cataract, Alopecia, Breast aplasia, Breast hyp... OMIM:308300
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Acute kidney inj... ORPHA:449285
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Nephrotic syndrome, Autoim... OMIM:603909
Shigellosis
Microangiopathic hemolytic anemia, Cholestasis, Urethritis, Abscess, Rhabdomyolysis, Abnormal blo... ORPHA:810
Cystinosis
Nephropathy, Aminoaciduria, Type I diabetes mellitus, Rickets, Failure to thrive, Portal hyperten... ORPHA:213
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Cholestatic liver disease, Hepatitis, Cholestasis, Diastasis recti, P... ORPHA:440713
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Interface hepatitis, Autoimmune hemolytic anemia, Leukocytosis, Agammaglobulinemia, ... OMIM:243150
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypopituitarism, Hyperglycemia, Left ventricular hypertrophy, Hypothyroidism, Hypercholesterolemia ORPHA:90065
Fibrodysplasia Ossificans Progressiva
Abnormal vertebral morphology, Synostosis of joints, Alopecia, Limitation of joint mobility, Fail... ORPHA:337
Combined Oxidative Phosphorylation Deficiency 47
Platyspondyly, Cataract, Toe syndactyly, Failure to thrive, Intrauterine growth retardation, Cryp... OMIM:618958
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed puberty,... OMIM:616834
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia OMIM:618970
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom... OMIM:614470
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Episodic hyperhidrosis, Maturity-onset diabetes of the young, Hyperins... ORPHA:324575
Sarcoidosis
Abnormal lymph node morphology, Abnormal pleura morphology, Abnormal reproductive system morpholo... ORPHA:797
Staphylococcal Necrotizing Pneumonia
Pneumonia, Hypotension, Shock, Leukopenia, Leukocytosis, Pleural effusion, Increased circulating ... ORPHA:36238
Autosomal Agammaglobulinemia
Cellulitis, Chronic otitis media, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Agammag... ORPHA:33110
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Rothmund-Thomson Syndrome, Type 1
Male hypogonadism, Delayed skeletal maturation, Recurrent otitis media, Nail dystrophy, Premature... OMIM:618625
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Autoimmune h... OMIM:601859
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Delayed skeletal maturation, Thick eyebrow, Radioulnar synos... ORPHA:3268
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Impaired platelet adhesion, Bruising susceptibility, Meno... ORPHA:324636
Congenital Myopathy 22A, Classic
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Limb mus... OMIM:620351
Hypobetalipoproteinemia, Familial, 1
Ataxia, Hypocholesterolemia, Elevated circulating aspartate aminotransferase concentration, Hyper... OMIM:615558
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic tra... OMIM:607765
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Alstrom Syndrome
Alopecia, Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mel... OMIM:203800
Immunodeficiency 23
Ataxia, Allergic rhinitis, Failure to thrive, Somatic sensory dysfunction, Eczematoid dermatitis,... OMIM:615816
Diamond-Blackfan Anemia 1
Delayed cranial suture closure, Persistence of hemoglobin F, Ventricular septal defect, Short nec... OMIM:105650
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Hyaline Fibromatosis Syndrome
Osteopenia, Progressive flexion contractures, Osteoporosis, Flexion contracture, Osteolysis OMIM:228600
Coccidioidomycosis
Abnormality of the spleen, Morbilliform rash, Abscess, Abnormality of the female genitalia, Abnor... ORPHA:228123
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Osteopenia, Cellulitis, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthou... ORPHA:486
Post-Traumatic Pituitary Deficiency
Osteopenia, Hypotension, Delayed skeletal maturation, Decreased response to growth hormone stimul... ORPHA:95619
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Alpha-Mannosidosis
Synostosis of joints, Cataract, Craniofacial hyperostosis, Chronic otitis media, Delayed skeletal... ORPHA:61
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Generalized muscular appearance from bir... OMIM:269700
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Sensory ataxia, Cataract, Cardiomyopathy, Hypogonadism, Abnormality of the thyroid gland, Limb mu... OMIM:609286
Trichohepatoenteric Syndrome 1
Cholestasis, Ventricular septal defect, Cirrhosis, Curly hair, Brittle hair, Hepatomegaly, Jaundi... OMIM:222470
Systemic Mastocytosis With Associated Hematologic Neoplasm
Chronic lymphatic leukemia, Acute myeloid leukemia, Weight loss, Neutrophilia, Hepatomegaly, Tach... ORPHA:98849
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia, Hypoglycemia ORPHA:364
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Vici Syndrome
Lymphopenia, Postnatal growth retardation, Decreased proportion of CD4-positive helper T cells, M... OMIM:242840
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c... OMIM:214900
Aarskog-Scott Syndrome
Genu recurvatum, High anterior hairline, Small hand, Finger syndactyly, Camptodactyly of finger, ... ORPHA:915
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Type I diabetes mellitus, Carpal osteolysis, Osteolysis involving tarsal bones, Incre... ORPHA:371428
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Growth delay, Failure to thrive, Clinodactyly of the 5th finger, Joint co... OMIM:614407
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Failure to thrive, Cardiomyopathy, Ascites, Hepatosplenomegaly, Abnormal... OMIM:232500
Isolated Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Cryptorchidism, Myopathy, Elevated circulating creatine kinase concent... ORPHA:408
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Increased circulating IgE level, Recurrent otitis media, Decreased proportion ... OMIM:243700
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Hypouricemia, Intrahepatic cholestasis, Elevated gamma-glutamyltransf... OMIM:227810
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Periodontitis, Osteomalacia, Genu valgum, Cryptorchidism, Hematuria, Hypophosphatemi... ORPHA:534
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Aspiration pneumonia, Rhabdomyolysis, Arrhythmia, Myoglobinuria, Urinary incon... ORPHA:94093
Ataxia With Vitamin E Deficiency
Ataxia, Tendon xanthomatosis, Increased LDL cholesterol concentration, Xanthelasma, Dysmetria, Ga... OMIM:277460
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Decreased circulating complement factor B concentration, Microangiopathic hemolytic anemia, Eleva... OMIM:235400
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Distal amyotrophy, Limb ataxia, Gait ataxia, Elevated circulating creatine kinas... OMIM:208920
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabete... OMIM:609812
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent upper respiratory tract infections, Alopecia, Failure to thrive, Increased circulating ... ORPHA:169154
Flynn-Aird Syndrome
Cataract, Alopecia, Joint stiffness, Increased bone density with cystic changes, Alopecia of scal... OMIM:136300
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Type I diabetes mellitus, Hepatitis, Failure to thrive, Eczematoid dermatitis, Increase... OMIM:304790
Cystic Echinococcosis
Peritoneal abscess, Pulmonary cyst, Hyperbilirubinemia, Abscess, Ovarian cyst, Increased circulat... ORPHA:400
Idiopathic Congenital Hypothyroidism
Facial edema, Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone conce... ORPHA:95717
Chromosome 5Q12 Deletion Syndrome
Hypotension, Decreased body mass index, Postnatal growth retardation, Increased nuchal translucen... OMIM:615668
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... OMIM:207750
Syndromic Diarrhea
Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Colitis... ORPHA:84064
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Keratoderma Hereditarium Mutilans
Hypogonadotropic hypogonadism, Osteolysis ORPHA:494
Late-Onset Isolated Acth Deficiency
Weight loss, Hypoparathyroidism, Premature ovarian insufficiency, Pituitary adenoma, Graves disea... ORPHA:199299
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Failure to thrive, Splenomegaly, Myositi... OMIM:617591
Estrogen Resistance Syndrome
Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Absence of... ORPHA:785
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612926
Acute Myelomonocytic Leukemia
Abnormal bleeding, Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia ORPHA:517
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Abnormal T cell morphology, Aga... OMIM:612692
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Ruijs-Aalfs Syndrome
Cataract, Posterior subcapsular cataract, Skeletal muscle atrophy, Clinodactyly, Delayed skeletal... OMIM:616200
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Giant cell hepatitis, Ventricular septal defect, Atrial septal defect, Hepatic melan... OMIM:208085
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Perrault Syndrome 4
Decreased serum estradiol, Increased circulating gonadotropin level, Gait ataxia, Hypoplasia of t... OMIM:615300
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Forsythe-Wakeling Syndrome
Nephrotic syndrome, Delayed skeletal maturation, Decreased body weight, Thrombocytopenia, Short s... OMIM:613606
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Failur... ORPHA:90674
Polyendocrine-Polyneuropathy Syndrome
Proximal muscle weakness in lower limbs, Alopecia, Central hypothyroidism, Hypoglycemia, Decrease... ORPHA:453533
Pde4D Haploinsufficiency Syndrome
Postnatal growth retardation, Cryptorchidism, Broad phalanx, Bilateral coxa valga, Hypospadias, S... ORPHA:439822
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Limitation of joint mobility, Hepatic steatosis, Mitral valve prolapse, Arachnodactyly, Brittle h... OMIM:236200
Immunodeficiency 32B
Pneumonia, Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG... OMIM:226990
Gm1 Gangliosidosis
Aspiration pneumonia, Hepatosplenomegaly, Abnormal scrotum morphology, Ventricular septal defect,... ORPHA:354
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Lower limb muscle weakness, Reduced subcutaneous adipose tissue, Loss of subcu... OMIM:606721
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... OMIM:618048
Werner Syndrome
Hypogonadism, Elevated circulating aspartate aminotransferase concentration, Alopecia of scalp, E... OMIM:277700
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Omenn Syndrome
Pneumonia, Thyroiditis, Alopecia, Failure to thrive, Short toe, Abnormal lymphocyte morphology, L... ORPHA:39041
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Difficulty walking, Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, Tip-... OMIM:606612
Immunodeficiency 15B
Reduced natural killer cell count, Failure to thrive, Agammaglobulinemia, Monocytosis, Decreased ... OMIM:615592
Schimke Immunoosseous Dysplasia
Shallow acetabular fossae, Lymphopenia, Pancytopenia, Abnormal immunoglobulin level, Short neck, ... OMIM:242900
Fibrous Dysplasia Of Bone
Increased circulating cortisol level, Osteomalacia, Difficulty walking, Ovarian cyst, Hypophospha... ORPHA:249
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Increased circulating IgE level, Increased circulating IgA lev... OMIM:620565
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Absent specific antibody respo... OMIM:619846
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hepatomegal... OMIM:300400
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Muscle fiber atrophy, Limb muscle weakness, Mitral valve prolapse, Talipes... ORPHA:1900
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed thelarche, Dorsocervical fat pad, Low anterior hairline, Joint hypermobility, Short neck,... OMIM:616033
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Leukopenia, Renal insufficiency, Hyperammonemia, Macrocytic anemia, Hepatomegaly,... ORPHA:27
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Failure to thrive, Hypoglycemia, Polysplenia, Exocri... OMIM:619418
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Mixed Connective Tissue Disease
Nephropathy, Xerostomia, Hepatomegaly, Purpura, Gastrointestinal hemorrhage, Alopecia, Myositis, ... ORPHA:809
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Hyperbilirubinemia, Absent g... OMIM:615710
Neutral Lipid Storage Disease With Ichthyosis
Ataxia, Alopecia, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis... ORPHA:98907
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:614025
Legionnaires Disease
Cellulitis, Lymphopenia, Abnormal pleura morphology, Hematuria, Arrhythmia, Ataxia, Recurrent pha... ORPHA:549
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Hypoplasia of the odontoid process, Genu valgum, Mitral regurgitation, Dis... OMIM:253010
Palmoplantar Carcinoma, Multiple Self-Healing
Nail dystrophy, Limbal stem cell deficiency, Corneal neovascularization, Chronic rhinitis, Short ... OMIM:615225
Combined Oxidative Phosphorylation Deficiency 54
Lower limb muscle weakness, Hyperglycemia, Obesity, Epicanthus, Hypergonadotropic hypogonadism OMIM:619737
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Episodic hyperhidrosis, Hyperinsu... ORPHA:276575
Congenital Enterovirus Infection
Cholestasis, Neutropenia, Pleural effusion, Anemia, Hydrops fetalis, Hypoalbuminemia, Hypotension... ORPHA:292
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, B lymphocyt... OMIM:618969
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612925
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Increased body weight, Hypercholesterolemia, Hypertriglyceridem... OMIM:182290
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Increased circulating ... OMIM:301074
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Anemia of inadequate production, Decreased fertil... ORPHA:91349
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Adva... OMIM:251450
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Xanthoma Disseminatum
Diabetes insipidus, Osteolysis ORPHA:158003
Nestor-Guillermo Progeria Syndrome
Thin ribs, Mitral regurgitation, Limited elbow movement, Sparse eyelashes, Right atrial enlargeme... OMIM:614008
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... OMIM:607271
Hyperlipoproteinemia, Type Id
Failure to thrive, Increased circulating chylomicron concentration, Hypertriglyceridemia, Splenom... OMIM:615947
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Type I diabetes mellitus, Eczematoid dermatitis, Po... OMIM:615952
Lujo Hemorrhagic Fever
Resting tremor, Lymphopenia, Excessive bleeding after a venipuncture, Periorbital edema, Elevated... ORPHA:319213
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Hyp... ORPHA:93160
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Failure to thrive, Congestive heart failure, Intrauterine growth retarda... OMIM:619048
Eosinophilia, Familial
Leukocytosis, Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infil... OMIM:131400
Nail-Patella Syndrome
Toenail dysplasia, Decreased muscle mass, Abnormal tibia morphology, Contracture of the distal in... ORPHA:2614
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Immunodeficiency 48
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... OMIM:269840
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th... OMIM:102700
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Hepatic steatosis, Chilblains, Weight loss, Micropenis, Glomerular sclerosis,... OMIM:619487
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating l... ORPHA:158057
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia OMIM:620085
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Downslanted palpebral fissures, Umbilical hernia, Hyperglycemia, C... OMIM:175700
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Osteopenia, Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidi... OMIM:614837
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... OMIM:613502
Mucopolysaccharidosis, Type Iva
Hypoplasia of the odontoid process, Genu valgum, Short neck, Disproportionate short-trunk short s... OMIM:253000
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Congestive hear... OMIM:212140
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Oculogyric crisis, Failure to thrive, Increased circulating prolactin concentration,... ORPHA:35708
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Peroxisome Biogenesis Disorder 3B
Failure to thrive, Hypocholesterolemia, Elevated circulating phytanic acid concentration, Hepatom... OMIM:266510
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract, Secondary growth hormone deficiency, Delayed skeletal maturation, Absence of secondary ... ORPHA:2410
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology, Osteolysis ORPHA:970
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to anti-CD3, In... OMIM:619313
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Ataxia, Failure to thrive, Increased circulating ferritin concentration, Increas... OMIM:267700
Aromatase Deficiency
Insulin resistance, Delayed epiphyseal ossification, Osteopenia, Female infertility, Male inferti... ORPHA:91
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Prieto Syndrome
Clinodactyly, Radial deviation of finger, 11 pairs of ribs, Inguinal hernia, Cryptorchidism, Tali... OMIM:309610
Wiskott-Aldrich Syndrome
Gingival bleeding, Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Inflammation of t... ORPHA:906
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Neutrophilia, He... ORPHA:99827
Sepsis In Premature Infants
Decreased body weight, Neutropenia, Hepatomegaly, Jaundice, Elevated circulating C-reactive prote... ORPHA:90051
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... OMIM:610582
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Pearson Syndrome
Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Ata... ORPHA:699
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Adrenocortical adenoma, Increased intramyocellu... ORPHA:681
Limbal Stem Cell Deficiency
Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s... ORPHA:171673
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Clinodactyly, Postnatal growth retardation,... ORPHA:2169
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Ventricular septal defect, Shor... ORPHA:124
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Abnormal bleeding, Bruising susceptibilit... OMIM:155100
Gorham-Stout Disease
Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Osteolysis involving bones... ORPHA:73
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Telecanthus, Glucose into... OMIM:269880
Juvenile Temporal Arteritis
Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis ORPHA:26137
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Decreased circulating IgG level, Lymphopenia OMIM:152800
Familial Thyroid Dyshormonogenesis
Facial edema, Thyroid defect in oxidation and organification of iodide, Neonatal hyperbilirubinem... ORPHA:95716
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Increased circulating ferritin concentration, Increased circulat... OMIM:620603
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Genu valgum, Myopathy, Hematuria, Weight loss, Hyp... OMIM:219800
Osteogenesis Imperfecta
Thin ribs, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Mitral valve prol... ORPHA:666
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Wolff-Parkins... OMIM:618234
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
H Syndrome
Osteolysis, Hypogonadism, Decreased testicular size, Azoospermia, Hernia, Amenorrhea, Camptodacty... ORPHA:168569
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Finger clinodactyly, Inguinal hernia, Cryptorchidism, Supernumerary ribs, Patellar subluxation, B... ORPHA:2958
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... ORPHA:79644
Myh9-Related Disease
Nephropathy, Nephritis, Giant platelets, Bruising susceptibility, Prolonged bleeding time, Presen... ORPHA:182050
Hjv Or Hamp-Related Hemochromatosis
Abnormality of iron homeostasis, Impotence, Dilated cardiomyopathy, Increased circulating ferriti... ORPHA:79230
Eosinophilic Gastroenteritis
Hypoalbuminemia, Hematochezia, Allergic rhinitis, Atopic dermatitis, Ascites, Leukocytosis, Eosin... ORPHA:2070
Familial Hyperprolactinemia
Osteopenia, Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Osteoporosis, Fema... ORPHA:397685
Kawasaki Disease
Arrhythmia, Recurrent pharyngitis, Elevated circulating C-reactive protein concentration, Jaundic... ORPHA:2331
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Athetosis, Small for gestational age OMIM:618857
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Farber Disease
Hepatosplenomegaly, Abnormality of the knee, Abnormality of the elbow, Short toe, Ascites, Lympha... ORPHA:333
Bone Dysplasia, Lethal Holmgren Type
Bell-shaped thorax, Hernia, Short neck, Weight loss, Atrial septal defect, Metaphyseal dysplasia,... ORPHA:1842
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Chronic otitis media, Bruising susceptibility, Recur... ORPHA:3226
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, H... ORPHA:444463
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... OMIM:274150
Solitary Fibrous Tumor
Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Neoplasm of the liver, Weight los... ORPHA:2126
Juvenile Hyaline Fibromatosis
Joint stiffness, Progressive flexion contractures, Osteolysis ORPHA:2028
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Cellulitis, Osteopenia, Chronic otitis media, Eczematoid dermatitis, Atelectasis, Abnormal hair m... ORPHA:2314
Wolcott-Rallison Syndrome
Chronic kidney disease, Difficulty walking, Hyperbilirubinemia, Decreased body weight, Atrial sep... ORPHA:1667
Familial Expansile Osteolysis
Pathologic fracture, Osteolysis, Thin bony cortex OMIM:174810
Dyskeratosis Congenita
Periodontitis, White hair, Premature graying of hair, Displacement of the urethral meatus, Cirrho... ORPHA:1775
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Ataxia, Elevated circulating alpha-fetoprotein co... OMIM:616267
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Drug Reaction With Eosinophilia And Systemic Symptoms
Nephrotic syndrome, Hepatitis, Angioedema, Interstitial pneumonitis, Renal insufficiency, Skin ra... ORPHA:139402
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Cardiomyopathy, Methylmalonic aciduria, Leukopenia, Stage 5 chronic kidney dis... OMIM:251000
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Absent eyelashes, Absent eyebrow, Atrial septal def... OMIM:308205
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Lack of T cell function, Increased circulating IgE level, Lympho... ORPHA:277
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612924
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Interstitial Lung And Liver Disease
Hepatic fibrosis, Intraalveolar phospholipid accumulation, Cholestasis, Hepatic steatosis, Hypera... OMIM:615486
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane... OMIM:615285
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy... ORPHA:156
Hajdu-Cheney Syndrome
Aortic valve stenosis, Periodontitis, Decreased skull ossification, Generalized hirsutism, Hernia... ORPHA:955
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Extensor Tendons Of Finger Anomalies