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Gene: Cebpb MGI:88373

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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:
CCAAT/enhancer binding protein beta
Synonyms:
NF-M,  IL-6DBP,  LAP,  C/EBPbeta,  CRP2,  LIP,  NF-IL6,  Nfil6,  C/EBP BETA

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 Cebpb 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 Cebpb by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... OMIM:614372
Medial Condensing Osteitis Of The Clavicle
Limited shoulder movement, Patchy reduction of bone mineral density ORPHA:57196
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Immunodeficiency 18
Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation, Recurre... OMIM:615615
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocy... OMIM:613953
Premature Ovarian Failure 2B
Osteoporosis, Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... OMIM:608106
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst... OMIM:253600
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... OMIM:615559
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, ... OMIM:232700
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... OMIM:613493
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... OMIM:616199
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... OMIM:613500
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Myositis
Myositis OMIM:160750
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Hyaline Fibromatosis Syndrome
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis OMIM:228600
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Increased circulating antibody lev... ORPHA:100024
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Osteolysis, Anemia ORPHA:158014
Familial Expansile Osteolysis
Pathologic fracture, Osteolysis, Thin bony cortex OMIM:174810
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis ORPHA:2776
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs ORPHA:565899
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:613502
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Familial Hyperprolactinemia
Osteopenia, Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility... ORPHA:397685
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density ORPHA:970
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Immunodeficiency 24
Decreased circulating IgG level, Recurrent viral infections, Severe varicella zoster infection, S... OMIM:615897
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... OMIM:619220
Juvenile Hyaline Fibromatosis
Progressive flexion contractures, Osteolysis, Joint stiffness ORPHA:2028
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:612692
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit... OMIM:613501
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc... OMIM:608600
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Recurrent infections, Anemia, Leukopeni... OMIM:615285
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Impaired Ig class switch recombination, Recurrent upper respiratory tract infectio... OMIM:608184
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:619733
Cd8 Deficiency, Familial
Recurrent respiratory infections, Bronchiectasis, Recurrent bacterial infections, Recurrent viral... OMIM:608957
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Chilblains, I... OMIM:619858
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... OMIM:615158
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... OMIM:181400
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... OMIM:620235
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lipodystrophy, Skin rash, Elevated circulating C-reactive protein concen... OMIM:618048
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Skin rash, Myocarditis, Proximal muscle weak... ORPHA:206569
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia OMIM:609016
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased T cell count, Increased circulating IgG level, Inflammation of the large intestine, Inc... ORPHA:98813
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... ORPHA:266
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... OMIM:613204
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... OMIM:619042
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Immunodeficiency, Common Variable, 2
Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Co... OMIM:240500
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Decreased lymphocyte proliferati... OMIM:620282
Muscle Hypertrophy
Skeletal muscle hypertrophy OMIM:614160
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Eczema, Thrombocytopenia, Severe i... OMIM:304790
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... ORPHA:275
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Keratoderma Hereditarium Mutilans
Hypogonadotropic hypogonadism, Osteolysis ORPHA:494
Focal Myositis
Myositis ORPHA:48918
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Enlarged mesenteric lymph... OMIM:209950
Oocyte/Zygote/Embryo Maturation Arrest 10
Miscarriage, Female infertility OMIM:619176
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Hep... OMIM:102700
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... OMIM:608099
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... ORPHA:169154
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Recurrent respirat... OMIM:618495
Reni Syndrome
Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Mesang... OMIM:617575
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 66
Recurrent skin infections, Pustule, Sepsis, Defective T cell proliferation, Meningitis OMIM:618847
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617760
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ... ORPHA:73
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Recurrent mycobacterial infections, BCGosis,... ORPHA:319552
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... OMIM:615703
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi... OMIM:619375
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... OMIM:620386
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Immunodeficiency, Common Variable, 1
Impaired T cell function, Pneumonia, Recurrent pneumonia, Bronchiectasis, Decreased circulating t... OMIM:607594
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Maculo... OMIM:619644
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Crohn's disease ORPHA:69126
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Membranoproliferative glomerulonephritis, Proteinuria, Recurrent infections, H... OMIM:608709
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Decreased lympho... OMIM:603909
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... OMIM:608807
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... OMIM:253601
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
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
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Pituitary Hormone Deficiency, Combined, 4
Hypothyroidism, Hypoglycemia, Adrenal insufficiency OMIM:262700
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Insu... OMIM:612526
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... OMIM:604367
Osteosarcoma
Pathologic fracture, Osteolysis ORPHA:668
Ollier Disease
Osteolysis, Anemia, Joint stiffness ORPHA:296
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, I... OMIM:601859
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration pneumonia,... OMIM:619477
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... OMIM:618129
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Recurrent infections, Eczema, Reduced natural killer cell activity OMIM:614493
Ramon Syndrome
Osteolysis ORPHA:3019
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Sepsis, Tubulointerstitial nephritis, Iron deficiency... ORPHA:37042
Hyperprolactinemia
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Prolonged neonatal jaundice OMIM:262400
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Elevated gamma-glutamyltr... OMIM:614480
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Meningitis, Increased circulating IgE level, Hypereo... OMIM:212050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... OMIM:613877
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Limitation of joint mobility, Osteolysis, Metacarpal osteolysis, Carpal ... ORPHA:2774
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Recurrent skin infections, Splenomegaly, L... OMIM:612840
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Complement Component 3 Deficiency, Autosomal Recessive
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton... OMIM:613779
Immunodeficiency, Common Variable, 6
Hepatomegaly, Recurrent respiratory infections, Decreased specific pneumococcal antibody level, G... OMIM:613496
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
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
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Abnormality of the liver, Pallor, Elevated hepatic iron concentrati... ORPHA:231222
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper... OMIM:613101
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... OMIM:615978
Eosinophilic Fasciitis
Arthritis, Myositis, Muscular edema, Fasciitis ORPHA:3165
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis OMIM:609655
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Tenosynovial Giant Cell Tumor
Limitation of joint mobility, Localized osteoporosis, Osteolysis, Joint stiffness ORPHA:66627
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... OMIM:300717
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S... OMIM:300696
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... ORPHA:178400
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... OMIM:619178
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Post-vaccination polio, Recurrent otitis media, Recurrent infections OMIM:616941
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B ... ORPHA:3261
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... OMIM:243700
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis ORPHA:50809
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea OMIM:233300
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... OMIM:616228
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... OMIM:617514
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Bethlem Myopathy 2
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter OMIM:616471
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Myositis, Basal ganglia calcification, Flexion contracture, Panniculitis OMIM:619183
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Boutonneuse Fever
Renal insufficiency, Petechiae, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Lym... ORPHA:83313
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... OMIM:619566
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Hypothyroidism, Hypoparathy... ORPHA:231226
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... OMIM:620246
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... OMIM:618654
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Osteolysis ORPHA:391
Desmoid Tumor
Limitation of joint mobility, Osteolysis ORPHA:873
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating enzyme concentration or activity, Increased circulating T4 concentration, De... ORPHA:171706
Immunodeficiency 84
Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia ORPHA:329249
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Muscle fi... OMIM:253700
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Splenom... ORPHA:824
Hutchinson-Gilford Progeria Syndrome
Osteolysis, Generalized osteoporosis OMIM:176670
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... OMIM:617006
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal bone structure, Coarse metaphy... ORPHA:93160
Maffucci Syndrome
Recurrent fractures, Neoplasm of the parathyroid gland, Pituitary adenoma, Osteolysis, Ovarian ne... ORPHA:163634
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Recurrent Haemophilus influenzae infections, Otitis media OMIM:300455
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... OMIM:616924
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections OMIM:607624
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... OMIM:247800
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly... ORPHA:100026
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Sepsis, Recurrent candida infections, Chronic otitis media, Opportunistic infection, M... ORPHA:83471
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk... ORPHA:443811
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent he... ORPHA:572
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... OMIM:300718
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Skin ... ORPHA:507
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... OMIM:612937
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Myositis, Skin rash, Elevated circulating C-reactive protein co... OMIM:615934
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple... ORPHA:98850
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Hypo... OMIM:308240
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hypothyroidism, Hypoparathyroidism, Hepat... ORPHA:231214
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... OMIM:256040
Immunodeficiency 104
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Recurrent opportunistic infections, Chronic mucocu... OMIM:608971
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Scaling skin, H... OMIM:606367
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Skin ulcer, Decr... ORPHA:33355
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
X-Linked Sideroblastic Anemia
Splenomegaly, Glucose intolerance, Pallor, Abnormality of iron homeostasis, Anemia ORPHA:75563
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Proteinuria, Abnormality of thyroid physiology, Impaired T cell function, Minimal ch... ORPHA:1830
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Mesangial hypercellularity,... ORPHA:329918
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating crea... OMIM:610717
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Recurrent fractures, Increased circulating gonadotropin level, Os... ORPHA:2410
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... OMIM:608423
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Neutrophilia, Osteomyelitis, Abscess, Splenomegaly, Periostitis, Osteolysis, Fused ce... OMIM:612852
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... ORPHA:324575
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... OMIM:605637
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Recurrent... ORPHA:277
Dermatoosteolysis, Kirghizian Type
Osteoarthritis, Tarsal synostosis, Osteolysis ORPHA:1657
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... ORPHA:436159
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... OMIM:619473
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... OMIM:619924
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... ORPHA:470
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Follicular hyperp... OMIM:614470
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, ... ORPHA:397596
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Craniofacial osteosclerosis, Osteolysis, Hyperostosis, Arthritis, Anemia ORPHA:324964
Immunodeficiency 110 With Lymphoproliferation
Recurrent skin infections, Recurrent viral infections, Recurrent upper respiratory tract infectio... OMIM:614868
Pyoderma Gangrenosum
Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine ORPHA:48104
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia, Hypercholestero... OMIM:306000
Infantile Myofibromatosis
Bone cyst, Osteolysis, Limitation of joint mobility ORPHA:2591
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Enlarged tonsils, Abnormal ... ORPHA:293964
Idiopathic Camptocormia
Myositis, Fatty replacement of skeletal muscle, Osteoarthritis, Abnormal muscle fiber dysferlin, ... ORPHA:1320
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Impaired T cell function, Pure red cell aplasia, Recurrent viral infections, Otitis me... OMIM:613179
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice ORPHA:446
Familial Tumoral Calcinosis
Calcification of muscles, Skin rash ORPHA:53715
Frank-Ter Haar Syndrome
Camptodactyly of finger, Osteolysis, Joint stiffness ORPHA:137834
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Decreased circulating IgG level, Meningitis, Impaired memory B... OMIM:308230
Periodic Fever, Familial, Autosomal Dominant
Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Conjunctivitis, Erysipelas OMIM:142680
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, ... ORPHA:183675
Immunodeficiency 95
Recurrent respiratory infections, Decreased circulating IgG3 level, Recurrent viral upper respira... OMIM:619773
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Autoimmune Hepatitis
Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis... ORPHA:2137
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Hepatosplenomegaly, Decreased circulating antibody level, Lymp... OMIM:618261
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Eiken Syndrome
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... ORPHA:79106
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent skin infection... OMIM:300635
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Increased circulating ferritin conce... OMIM:603552
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1... ORPHA:171442
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Hypoproteinemia, Renal insufficiency, Congenital nephrotic syndrome,... OMIM:256300
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation of the large intes... OMIM:614700
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... OMIM:601846
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Premature thelarche, Osteolysis involving bones of the upper limbs, Osteoporosis, Ost... ORPHA:371428
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Invasive parasitic infection, Eosinophilia, Hepatic... ORPHA:400
Congenital Myopathy 14
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... OMIM:618414
Felty Syndrome
Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Anemia, Arthritis, Bone marrow... ORPHA:47612
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Ab... ORPHA:229717
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Immunodeficiency 12
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent viral infections... OMIM:615468
Galactokinase Deficiency
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly,... ORPHA:79237
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly... OMIM:618987
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sclerosis of skul... OMIM:602080
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... OMIM:613157
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... OMIM:300400
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... OMIM:619790
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Hepatic steatosis OMIM:620357
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity OMIM:617885
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Calvarial hyperostosis, Pathologic fracture, Osteolysis, Increased susceptibility to fractures ORPHA:52430
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoglycemia ORPHA:2022
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Eczema, Splenomegaly, Erythema, Skin ulcer, Lymphadenopathy, Abnormal ly... ORPHA:2584
Kerion Celsi
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... ORPHA:499
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... OMIM:602450
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Pneumocystis jirovecii pneum... OMIM:301078
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
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
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Abnorm... ORPHA:99845
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Spleno... ORPHA:77259
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... OMIM:620265
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Pan... OMIM:615214
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Inc... ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Elevated circu... ORPHA:435660
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod... OMIM:615206
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Recurrent bacterial infections OMIM:245480
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... OMIM:615688
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Myositis, Hypertriglyceridemia, Lipodystrophy, Sinusitis, Skin rash, Splenomegaly, ... OMIM:617591
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia... OMIM:618986
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Increa... ORPHA:1304
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Recurrent infections, Increased circulating antibody level, Histiocytosis OMIM:235900
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... OMIM:300580
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin... ORPHA:47
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... OMIM:614699
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Graft Versus Host Disease
Skeletal muscle atrophy, Myositis, Dupuytren contracture, Fasciitis, Maculopapular exanthema, Pne... ORPHA:39812
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased lecithin cholesterol acy... OMIM:245900
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... OMIM:600785
Nemaline Myopathy 2
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ... OMIM:256030
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... OMIM:601495
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy... ORPHA:86812
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Elevated hepatic transaminase, Hypertriglyceridemia... OMIM:615381
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... OMIM:618348
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi... OMIM:618138
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia ORPHA:100025
Diffuse Cutaneous Systemic Sclerosis
Dyspareunia, Flexion contracture, Xerostomia, Osteolysis, Arthritis ORPHA:220393
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Tularemia
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Mediastinal lymphadenopathy, Cervical lymp... ORPHA:3392
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ... ORPHA:289390
Classic Galactosemia
Male infertility, Hepatomegaly, Elevated hepatic transaminase, Premature ovarian insufficiency, A... ORPHA:79239
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:611705
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Rec... OMIM:615122
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Pallor, Decreased proportion of... ORPHA:331206
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:151660
Cysticercosis
Calcification of muscles, Cerebral calcification, Iridocyclitis, Abnormal skeletal muscle morphol... ORPHA:1560
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Primary adrenal insufficiency, Hepati... OMIM:617872
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-react... OMIM:613011
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures,... ORPHA:276580
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function OMIM:267500
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hypertriglyceridemia ORPHA:436182
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... OMIM:146300
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... OMIM:617066
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Hypertriglyceridemia, Lipodystrophy, Increased C-peptide level OMIM:615238
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Increased circulating IgE level, Recurrent pneumon... OMIM:147060
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM l... ORPHA:37748
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Fibrous Dysplasia Of Bone
Thin bony cortex, Hyperthyroidism, Precocious puberty in females, Osteomalacia, Testicular neopla... ORPHA:249
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... ORPHA:95619
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Decreased acid ... OMIM:607616
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased circulating IgG level, Leukopenia, Glucose in... ORPHA:2298
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin... ORPHA:276608
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Keratitis, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber dia... OMIM:226670
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b... ORPHA:2688
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Dec... OMIM:619126
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... OMIM:616470
Complement Component 5 Deficiency
Recurrent Neisserial infections, Generalized seborrheic dermatitis, Recurrent meningococcal disease OMIM:609536
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... OMIM:620138
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,... OMIM:226990
Transient Neonatal Diabetes Mellitus
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... ORPHA:99886
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Recurrent infections, Hemat... OMIM:613913
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Hepatomegaly, Hypoglycemia ORPHA:35
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... ORPHA:353
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Insulin-resist... ORPHA:435651
Hemochromatosis, Neonatal
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... OMIM:231100
H Syndrome
Histiocytosis, Recurrent fractures, Microcytic anemia, Osteolysis, Hepatosplenomegaly, Azoospermi... ORPHA:168569
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Osteopenia, Hypergonadotropic hypogonadism, Femal... ORPHA:91
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Tyrosinemia Type 1
Splenomegaly, Rickets of the lower limbs ORPHA:882
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Immunodeficiency 67
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... OMIM:607676
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... ORPHA:822
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Ankylosis, Osteolysis ORPHA:659
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Joint hyperflexibility, Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Immunodeficiency 48
Hepatomegaly, Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splen... OMIM:269840
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Bile duct proliferation, Cirrhosis, Fa... OMIM:613027
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Atrophic gastritis, Psoriasiform dermatit... OMIM:616100
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... ORPHA:97240
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Recurrent viral infections, Atopic dermatitis, Hep... OMIM:618999
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Multiple Myeloma
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... ORPHA:29073
Coccidioidomycosis
Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor... ORPHA:228123
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... OMIM:619846
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... OMIM:620161
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... OMIM:613530
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Recurrent urinary tract infections, Hepatomegaly, Recurrent skin infections, Recurre... OMIM:620210
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Osteopenia, Decreased female libido, Decreased response to growth h... ORPHA:91348
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619048
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,... ORPHA:363400
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Decreased liver function OMIM:246900
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Acth Deficiency, Isolated
Decreased circulating cortisol level, Jaundice, Adrenocorticotropic hormone deficiency, Cholestas... OMIM:201400
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentrat... ORPHA:264580
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Severe varice... ORPHA:36234
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... OMIM:300755
Glucocorticoid Resistance, Generalized
Hypoglycemia, Irregular menstruation, Increased circulating cortisol level, Infertility, Hirsutism OMIM:615962
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... OMIM:620310
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, A... ORPHA:911
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... OMIM:233710
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycem... ORPHA:276575
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Eos... OMIM:615816
46,Xx Gonadal Dysgenesis
Osteopenia, Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin lev... ORPHA:243
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Osteoporosis, Secondar... OMIM:615300
Congenital Myopathy 10A, Severe Variant
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... OMIM:614399
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... OMIM:300291
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... ORPHA:75840
Roifman Syndrome
Hip contracture, Hypogonadotropic hypogonadism, Eosinophilia, Eczema, Recurrent pneumonia, Decrea... ORPHA:353298
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Osteopenia, Cryptorchidism, Osteoporosis, Primary amenorrhea, Small pituitary gland, Micropenis, ... OMIM:614880
Essential Fructosuria
Abnormal erythrocyte enzyme level, Abnormal circulating enzyme concentration or activity, Hypergl... ORPHA:2056
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content OMIM:261750
Hypercholanemia, Familial 1
Rickets OMIM:607748
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619232
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Recurrent hyp... ORPHA:276556
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyp... ORPHA:2089
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... OMIM:613954
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections, Decreased circulating antibody level ORPHA:169079
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Recurrent herpes, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythrode... ORPHA:169160
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight... OMIM:616222
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hypoglycemia, Hepatocellular carcinoma, Splenomeg... OMIM:232220
Kaposiform Lymphangiomatosis
Metrorrhagia, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Fractures of the long bones, Oste... ORPHA:464329
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619386
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Prolidase Deficiency
Hepatomegaly, Petechiae, Eczema, Hyperimidodipeptiduria, Splenomegaly, Recurrent pneumonia, Crust... OMIM:170100
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Antisynthetase Syndrome
Myocarditis, Keratoconjunctivitis sicca, Myositis, Skin rash ORPHA:81
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... ORPHA:280365
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... OMIM:620249
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Adipose tissue loss, Insulin resistance, ... ORPHA:528
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Cir... ORPHA:369
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Hyperhidrosis ORPHA:231147
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Ad... OMIM:617053
Combined Oxidative Phosphorylation Deficiency 36
Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a... OMIM:617950
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallor ORPHA:99931
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating asparta... ORPHA:2088
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Jaundice, Hypertriglyceridemia, Hepatic failure ORPHA:75234
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Eczema OMIM:300299
Childhood-Onset Nemaline Myopathy
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... ORPHA:171439
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... OMIM:233690
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets OMIM:619065
Cryoglobulinemic Vasculitis
Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Viral hepatitis, Circulating immu... ORPHA:91138
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase... OMIM:261680
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Decreased liver function ORPHA:67048
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... OMIM:608340
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypothyroidism, Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures OMIM:620211
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Elevated carcinoembryo... ORPHA:100083
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... OMIM:618823
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... OMIM:618858
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Opportunisti... ORPHA:2035
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Mandibuloacral Dysplasia With Type A Lipodystrophy
Flexion contracture, Limitation of joint mobility, Osteolysis, Osteolytic defects of the distal p... ORPHA:90153
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce... OMIM:613313
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... OMIM:301082
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Recurrent aspiration ... ORPHA:79124
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Cryptorchidism, Hypoglycemia, Hepatomegaly OMIM:618958
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, ... OMIM:616005
Ornithine Transcarbamylase Deficiency
Hepatic failure, Hypoglycemia ORPHA:664
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hypoglycemia OMIM:232400
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo... OMIM:614008
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentra... OMIM:613327
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Glomerulopathy, Hepatomegaly, Diabetes mellitus, Li... ORPHA:2348
Congenital Myopathy 3 With Rigid Spine
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... OMIM:602771
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Granulomatous Slack Skin
Redundant skin, Hypercalcemia, Erythema, Abnormal lymph node morphology, Nephrocalcinosis, Cutis ... ORPHA:33111
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ... OMIM:618484
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Elevated circulating C-reactive protein concentration, Microcytic anemia, Recurrent pneumonia, De... OMIM:619750
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased c... OMIM:278000
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elb... OMIM:604416
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... ORPHA:598
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
X-Linked Centronuclear Myopathy
Pneumonia, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Type 1 fib... ORPHA:596
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Myocarditis, Endocarditis, Tubul... ORPHA:183
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... OMIM:619164
Mixed Connective Tissue Disease
Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Arthritis, Keratoconjunctivitis sicca ORPHA:809
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic h... ORPHA:79240
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Skin rash, Reduced natural killer... OMIM:603553
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... ORPHA:465508
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide... OMIM:615980
Chromomycosis
Ankylosis, Osteolysis ORPHA:182
Pediatric Systemic Lupus Erythematosus
Myositis, Skin rash, Discoid lupus rash, Arthritis, Malar rash, Nephritis ORPHA:93552
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Diabetes mellitus, Abnormality of the thyroid gland, Erythe... ORPHA:542592
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Neonatal hypoglycemia, Spleno... OMIM:619418
Simple Cryoglobulinemia
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... ORPHA:91139
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Mehmo Syndrome
Male hypogonadism, Hypoglycemia, Decreased response to growth hormone stimulation test OMIM:300148
Immunodeficiency 96
Eczema, Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Re... OMIM:619774
Fusariosis
Myositis, Sinusitis, Maculopapular exanthema, Fasciitis, Pneumonia, Osteomyelitis, Keratitis, Per... ORPHA:228119
Whipple Disease
Myositis, Pericarditis, Myocarditis, Uveitis, Arthritis, Infectious encephalitis ORPHA:3452
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Neonatal hypoglycemia, Hyperhidrosis ORPHA:231140
Sapho Syndrome
Osteomyelitis, Recurrent fractures, Craniofacial osteosclerosis, Osteolysis, Synovitis, Enthesiti... ORPHA:793
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Inc... OMIM:610163
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90154
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Hepatospleno... OMIM:259710
Pachydermoperiostosis
Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, A... ORPHA:2796
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Increased ... ORPHA:158061
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Jaundice, Hypoglycemia, Acute hepatic failure OMIM:616483
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Macroglossia, Muscular ... ORPHA:258
Premature Ovarian Failure 20
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... OMIM:619938
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the ... OMIM:614837
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
2P21 Microdeletion Syndrome
Long eyelashes, Hypogonadism, Hypoglycemia ORPHA:163693
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Decreased circulating complement factor I concentration... OMIM:613652
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Primary amenorrhea, Micropenis, Decr... OMIM:610628
Myasthenia Gravis
Myositis, Hepatitis, Hashimoto thyroiditis, Rheumatoid arthritis ORPHA:589
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Mody
Abnormality of the kidney, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin... ORPHA:552
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated hepatic transaminase, Hypoglycemia, Decreased liver function OMIM:615160
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Immunodeficiency 81
Recurrent cutaneous abscess formation, Skin rash, Reduced natural killer cell activity, Recurrent... OMIM:619374
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Arthritis, Impotence... OMIM:604250
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... OMIM:300559
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto... OMIM:259720
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia, Neon... OMIM:619046
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... OMIM:602390
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... ORPHA:3243
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbil... ORPHA:79303
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... OMIM:606176
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... ORPHA:119
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ... OMIM:617241
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre... ORPHA:48435
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertr... OMIM:608594
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Diabetes mellitu... ORPHA:79083
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Splenomegaly, Lymphadeni... OMIM:618935
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia, Hyperhidrosis, Fine hair, Long eyelashes, High anterior hairline ORPHA:231137
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... OMIM:611762
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipo... OMIM:269700
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte prolife... ORPHA:99867
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Dry skin, Lymphadenopathy, Erythroderm... ORPHA:3162
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... ORPHA:217390
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Kimura Disease
Eosinophilia, Increased circulating IgE level, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Incre... OMIM:235200
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Microsporidiosis
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenitis, Prostatitis... ORPHA:2552
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Proteinuria, E... OMIM:614034
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Congenital hypothyroidi... OMIM:619609
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Abnormality of the lymphatic sys... ORPHA:1414
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Liver abscess, Osteolysis ORPHA:678
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Abnormality of the kidney, Increased circulating IgG4 level, Eosinophilia, A... ORPHA:449432
Poems Syndrome
Diabetes mellitus, Lipodystrophy, Polycythemia, Abnormality of the endocrine system, Primary adre... ORPHA:2905
Bloom Syndrome
Recurrent herpes, Adipose tissue loss, Severe varicella zoster infection, Uveitis, Otitis media, ... ORPHA:125
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... OMIM:618394
Shigellosis
Abnormal blood ion concentration, Uveitis, Sepsis, Conjunctivitis, Acute colitis, Hyponatremia, A... ORPHA:810
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Osteoporosis, Primary amenorrhea, Hypoplastic lab... OMIM:618187
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Systemic Lupus Erythematosus 16
Decreased circulating complement C3 concentration, Lupus nephritis, Decreased circulating complem... OMIM:614420
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture OMIM:618856
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lipodystrophy, Skin rash, Elevated circulating C-reactive protein concentration, In... OMIM:617099
Blue Diaper Syndrome
Elevated hepatic transaminase, Decreased circulating T4 concentration, Recurrent hypoglycemia, In... ORPHA:94086
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce... OMIM:615234
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Free Sialic Acid Storage Disease
Hepatomegaly, Recurrent respiratory infections, Proteinuria, Splenomegaly, Skin ulcer, Nephrotic ... ORPHA:834
Gordon Holmes Syndrome
Secondary amenorrhea, Hypogonadotropic hypogonadism, Oligomenorrhea, Primary amenorrhea OMIM:212840
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosph... ORPHA:417
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hyperinsulinemia, Hyperhidrosis, Glycosuria, Elevate... ORPHA:263455
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... OMIM:616867
Satoyoshi Syndrome
Hypoplasia of the uterus, Mildly elevated creatine kinase, Osteolytic defects of the phalanges of... OMIM:600705
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Elevated transferri... ORPHA:766
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt... ORPHA:79477
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Alg12-Cdg
Redundant skin, Sepsis, Recurrent hypoglycemia, Hypoalbuminemia, Hypocholesterolemia, Micropenis,... ORPHA:79324
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In... ORPHA:486815
Pyomyositis
Recurrent cutaneous abscess formation, Myositis ORPHA:764
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting OMIM:609452
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... ORPHA:453533
Insulinoma
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Gaucher Disease Type 3
Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ... ORPHA:77261
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Abnormal renal glomerulus morphology, Reduced subcutaneous adipose tissue, Renal insufficiency, M... OMIM:137940
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, Reduced natural k... OMIM:616050
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... OMIM:267700
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Hypoglycemia ORPHA:289504
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor... ORPHA:98848
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Myositis, Pericarditis, Fasciitis, Skin rash, Orchitis, Peritonitis, Uveitis, Arthritis, Conjunct... ORPHA:32960
Specific Granule Deficiency 2
Death in infancy, Brachydactyly, Sandal gap, Recurrent pneumonia, Sepsis, Recurrent bacterial inf... OMIM:617475
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Arthritis, Increased variability in muscle fiber ... ORPHA:397744
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia OMIM:602079
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... ORPHA:247598
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Mucopolysaccharidosis-Plus Syndrome
Flexion contracture, Sepsis, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic steatosis, Neutr... OMIM:617303
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Unilateral renal ... OMIM:614576
Mevalonic Aciduria
Normocytic hypoplastic anemia, Skin rash, Elevated circulating creatine kinase concentration, Ele... OMIM:610377
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis, Severe infection ORPHA:206594
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Abnorma... ORPHA:99826
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Syndromic Diarrhea
Hepatomegaly, Inguinal hernia, Gastritis, Increased mean platelet volume, Splenomegaly, Colitis, ... ORPHA:84064
Immunodeficiency 31C
Disseminated histoplasmosis, Recurrent vulvovaginal candidiasis, Hypothyroidism, Hepatomegaly, Co... OMIM:614162
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... OMIM:619868
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... ORPHA:85450
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Addison Disease
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... ORPHA:85138
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Stillbirth, Intestinal lymphangiectasia, Lymphopenia, Neonatal h... OMIM:152800
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Recurrent fractures, Reduced circulating prolactin concentration, ... ORPHA:2235
Prolactinoma
Osteopenia, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fertility i... ORPHA:2965
Immunodeficiency, Common Variable, 10
Recurrent oral herpes, Psoriasiform dermatitis, Hypoglycemia, Decreased response to growth hormon... OMIM:615577
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Increased circulat... OMIM:600649
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... OMIM:616828
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Long eyelashes, Hypogonadotropic hypogonadism, Hypoglycemia ORPHA:48431
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Hemochromatosis, Type 4
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... OMIM:606069
Mccune-Albright Syndrome
Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Ovarian cyst, Increased ... ORPHA:562
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... OMIM:617228
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis ORPHA:157991
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hematuria, Increased mean c... OMIM:617021
Omenn Syndrome
Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Dry skin, Lymphad... ORPHA:39041
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Osteolysis, Hyperhi... ORPHA:35687
Complement Component 4A Deficiency
Decreased circulating complement C4 concentration, Glomerulonephritis, Reduced hemolytic compleme... OMIM:614380
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Tooth abscess, Rickets, Osteomalacia ORPHA:89937
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:617049
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Pituitary Hormone Deficiency, Combined, 2
Reduced circulating prolactin concentration, Hypothyroidism, Hypoglycemic seizures, Hypogonadism,... OMIM:262600
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei... ORPHA:449427
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Prima... OMIM:600955
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated circulating alanine aminotransferase concentration, Hyperammonemia... OMIM:603471
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Hepatic failure OMIM:177000
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryp... ORPHA:432
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... ORPHA:3226
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology, Papillary renal ce... ORPHA:97290
Crimean-Congo Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Increased circulating IgG level, Leukopenia, ... ORPHA:99827
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin... ORPHA:381
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Pathologic fracture, Joint contracture of... OMIM:263700
Legionnaires Disease
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Jaundice, Myocarditis... ORPHA:549
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Lymphadeno... ORPHA:536
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... ORPHA:293978
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter OMIM:613752
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... ORPHA:319487
Cinca Syndrome
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve... OMIM:607115
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... OMIM:600081
Primary Intestinal Lymphangiectasia
Lymphopenia, Peritoneal effusion, Cryptococcal meningitis, Abnormal lymphatic vessel morphology, ... ORPHA:90362
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Hypophosphatemic Rickets, X-Linked Recessive
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300554
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Cervical lymphadenopa... ORPHA:2686
Immunodeficiency 62
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o... OMIM:618459
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Hepatitis, Hypoglycemic seizures, Adrenocorticotropin defic... ORPHA:199296
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume OMIM:611590
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bact... ORPHA:169090
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypoglycemia OMIM:201910
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hypoglycemia ORPHA:156
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Leukocytos... OMIM:260920
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Portal hyperten... OMIM:251880
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hypoglycemia ORPHA:2394
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Skin rash, Elevated circul... ORPHA:829
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... ORPHA:79230
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Arthritis, Infectious encepha... ORPHA:42642
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Ketotic hypoglycemia ORPHA:26792
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Elevated circulating creatinine c... OMIM:614376
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Immunodeficiency 54
Hepatomegaly, Recurrent respiratory infections, Recurrent viral infections, Splenomegaly, Adrenoc... OMIM:609981
Proteus Syndrome
Lymphangioma, Splenomegaly, Lipoma, Multiple lipomas OMIM:176920
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... ORPHA:401768
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ... ORPHA:464321
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... ORPHA:556030
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia OMIM:230350
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration... OMIM:618963
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98855
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... ORPHA:556037
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disease, Nephroti... OMIM:617729
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Thrombocytopenia, Lymphadenopathy, Hematuria, Neoplasm of the live... ORPHA:69077
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Recurrent respiratory infections, Hypoglycemia, Hyperlipidemia, Recurrent infections, Hyperuricemia ORPHA:364
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Elevated circulating C-rea... ORPHA:54251
Q Fever
Abnormality of the liver, Cholecystitis, Meningitis, Infectious encephalitis, Hepatomegaly, Macul... ORPHA:781
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita OMIM:619334
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent respiratory infections, Skin rash, Partial IgA deficiency, Recurrent viral infections, ... ORPHA:35078
Chronic Granulomatous Disease
Hepatomegaly, Recurrent respiratory infections, Liver abscess, Sinusitis, Eczema, Abnormality of ... ORPHA:379
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoglycemia, Cryptorchidism, Primary amenorrhea, Hypothyroidism ORPHA:95496
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Recurrent ear infection... ORPHA:486
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Neurogenic bladder, Hypoglycemia, Elevated circulating creatine kinase concentratio... OMIM:608779
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a... OMIM:245400
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Congenital Myopathy 4A, Autosomal Dominant
Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra... OMIM:255310
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA d... OMIM:231530
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, Glomerulonephritis ORPHA:2172
Estrogen Resistance
Osteopenia, Primary amenorrhea, Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia OMIM:615363
Ataxia-Telangiectasia
Lymphopenia, Diabetes mellitus, Female hypogonadism, Sinusitis, Elevated circulating alpha-fetopr... OMIM:208900
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidis... OMIM:616113
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni... OMIM:600802
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis, Lipodystrophy OMIM:305800
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Chronic myelomon... ORPHA:90280
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiec... OMIM:242700
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... ORPHA:1451
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, In... OMIM:620010
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating fe... OMIM:616860
Familial Dysautonomia
Recurrent fractures, Osteolysis ORPHA:1764
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Ascites, Thrombocytopenia ORPHA:858
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia ORPHA:79159
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Panniculitis, Hypertriglyceridemia OMIM:618398
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis, Lymphadenopathy OMIM:617772
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter OMIM:614096
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia OMIM:201450
Juvenile Dermatomyositis
Calcinosis, Myositis, Pericarditis, Skin rash, Arthritis ORPHA:93672
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis... OMIM:254090
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... OMIM:116920
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent respiratory infect... OMIM:615387
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Inguinal hernia, Membranoproliferative glomerulonephritis, Microscopic hematuria, M... OMIM:619525
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Arthritis, Crescentic glomerulonephritis, Elevated circulating C-reactive protein concentration, ... OMIM:616414
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Hiatus hernia, Nephrotic syndrome,... OMIM:251300
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Menin... ORPHA:545
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Increased circulati... OMIM:610600
Immunodeficiency 44
Severe viral infection, Decreased circulating total IgM, Post-vaccination measles, Abnormal circu... OMIM:616636
Splenoportal Vascular Anomalies
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... OMIM:271500
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Bilateral cryptorchidism, Bone cyst, Flexion contracture, Osteolysis, Hypogonadi... ORPHA:3042
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Roifman Syndrome
Hip contracture, Hepatomegaly, Eosinophilia, Eczema, Splenomegaly, Recurrent pneumonia, Lymphaden... OMIM:616651
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Cryptococcosis
Lymphoid leukemia, Prostatitis, Osteolysis, Osteomyelitis ORPHA:1546
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal... ORPHA:167
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Normocytic anemia, Macroc... ORPHA:199299
Hemophagocytic Syndrome Associated With An Infection
Opportunistic bacterial infection, Neutropenia, Hepatomegaly, Abnormal cytokine signaling, Severe... ORPHA:158048
Laron Syndrome
Hypoplasia of penis, Hypoglycemia, Abnormality of the endocrine system, Osteoarthritis, Delayed p... ORPHA:633
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Thrombocytosis, Anemia of ... ORPHA:75564
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Cryptorchidism, Leukocytosis, Erythema, Lymphade... ORPHA:99812
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Failure to thrive, Hypocholeste... ORPHA:71
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Arthritis, Malar rash, Nephritis, Th... OMIM:152700
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, ... ORPHA:79086
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98853
Alpha-Mannosidosis
Hepatomegaly, Inguinal hernia, Recurrent respiratory infections, Splenomegaly, Arthritis, Type II... ORPHA:61
Immunodeficiency 58
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Recurrent respiratory infec... OMIM:618131
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, E... OMIM:214900
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Hypoglycemia, Elevated circulating alpha-fet... OMIM:276700
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, ... OMIM:619603
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Abnormal lactate dehydrogenase level, ... ORPHA:42
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Recurr... ORPHA:79644
Trichohepatoenteric Syndrome 1
Hepatomegaly, Hypospadias, Increased mean platelet volume, Splenomegaly, Abnormality of the pancr... OMIM:222470
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Panc... ORPHA:97289
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia OMIM:604484
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Glucocorticoid Deficiency 2
Recurrent hypoglycemia, Decreased circulating cortisol level OMIM:607398
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph... OMIM:241530
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Perianal erythema, Impaired T cell function, Splenomegaly, Recurrent candida infect... OMIM:201100
Temple Syndrome
Cryptorchidism, Recurrent hypoglycemia, Type II diabetes mellitus, Decreased response to growth h... ORPHA:254516
Silver-Russell Syndrome 2
Neonatal hypoglycemia, Hyperhidrosis OMIM:618905
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618838
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Rickets, Osteomalacia OMIM:613388
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Splenomegaly, Rickets OMIM:211600
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Neoplasm of t... ORPHA:2126
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Elevated circulatin... OMIM:616026
Smith-Kingsmore Syndrome
Hypoglycemia, Cryptorchidism, Umbilical hernia, Thrombocytopenia, Decreased circulating IgA level OMIM:616638
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... OMIM:606070
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Portal hypertension, Hypersplenism,... OMIM:613385
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... ORPHA:117
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density ORPHA:157215
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:610006
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Renal insufficiency, Decreased circulating cortisol level, Hypog... ORPHA:95409
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... OMIM:617093
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... ORPHA:79096
Cap Myopathy
Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In... ORPHA:171881
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Hyperam... OMIM:246450
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Skin rash, Splenome... ORPHA:36412
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating antibody level, Decrease... ORPHA:859
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter OMIM:617235
Combined Oxidative Phosphorylation Deficiency 40
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618835
Meige Disease
Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce... ORPHA:90186
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Steatorrhea, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibrosis, C... OMIM:602579
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Dysplastic erythropoesis, Increased circulating ferritin concentration, Reticulocytopenia, Anisop... ORPHA:300298
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... OMIM:619281
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:212140
Combined Oxidative Phosphorylation Deficiency 42
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... OMIM:618839
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... ORPHA:3411
Sheehan Syndrome
Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Hypoglycemia, Reduced... ORPHA:91355
Igg4-Related Aortitis
Increased inflammatory response, Increased circulating IgG4 level, Elevated circulating C-reactiv... ORPHA:449400
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Propionic Acidemia
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Hypoglycemia, Eczema, Thro... OMIM:606054
Aredyld Syndrome
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Splenomegaly, Abnormality of the ur... ORPHA:1133
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Decreased circulating total IgM, Osteopetrosis... OMIM:612301
Seckel Syndrome 10
Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Impaired glucose tolerance, Ele... OMIM:617253
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Decreased circulating cortisol level, Hypoglycemia, Congenital hypothyroidism OMIM:614736
Gaucher Disease
Osteopenia, Increased bone mineral density, Pancytopenia, Osteomyelitis, Recurrent fractures, Joi... ORPHA:355
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Sple... OMIM:603554
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... OMIM:306400
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Placental Site Trophoblastic Tumor
Metrorrhagia, Amenorrhea ORPHA:99928
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp... ORPHA:251004
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea OMIM:184700
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
Common Variable Immunodeficiency
Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen... ORPHA:1572
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ... ORPHA:90796
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Reduced bone mineral d... ORPHA:652
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepa... ORPHA:79259
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Renal insufficiency, Purpura, Cryoglobulinemia, Abnormality of n... ORPHA:33226
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Hyperammonemi... OMIM:251000
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria... ORPHA:445038
Igg4-Related Ophthalmic Disease
Sinusitis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Incr... ORPHA:449563
Immunodeficiency 86
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst, BCGitis OMIM:619549
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ... OMIM:269920
Babesiosis
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Splenomegaly, Jaundice, Recurrent pharyngiti... ORPHA:108
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Increased circulating IgA level, Peritonitis, Erythema, Lymphadenopathy, Arthritis,... ORPHA:343
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Micropenis, De... ORPHA:90793
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypoglycemia OMIM:618241
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Hepatoerythropoietic Porphyria
Osteopenia, Hemolytic anemia, Splenomegaly, Osteoporosis, Osteolysis, Erythroid hyperplasia ORPHA:95159
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Porphyria Cutanea Tarda
Abnormal circulating porphyrin concentration, Scaling skin, Elevated hepatic iron concentration, ... ORPHA:101330
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Hypoglycemia, Hepatocellular carcinoma, Pancreatitis, Hyperlipidemia, ... OMIM:232200
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... ORPHA:79084
Alpha-Mannosidosis, Infantile Form
Osteopenia, Joint laxity, Pancytopenia, Craniosynostosis, Joint stiffness, Cranial hyperostosis, ... ORPHA:309282
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Osteolysis involving bones of the upper limbs, Flexion contracture, Camptodactyly, Osteolysis inv... ORPHA:88630
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Jaundice, Increased circulating chylomic... ORPHA:444490
Cold Agglutinin Disease
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Pallor ORPHA:56425
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... OMIM:614069
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Hype... OMIM:618120
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Chronic infection, In... ORPHA:139507
Congenital Rubella Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Anemia, Type I diabetes mellitus, Thrombocytopenia ORPHA:290
Hsd10 Mitochondrial Disease
Hypoglycemia OMIM:300438
Estrogen Resistance Syndrome
Osteopenia, Enlarged polycystic ovaries, Increased circulating gonadotropin level, Delayed epiphy... ORPHA:785
Hypoadrenocorticism, Familial
Hypoglycemia, Adrenal insufficiency OMIM:240200
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cholestatic liver disease, Hypoglycemia, Hypoketotic hypoglycemia ORPHA:5
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... OMIM:608612
Gaucher Disease Type 2
Splenomegaly, Flexion contracture, Recurrent respiratory infections, Hepatomegaly ORPHA:77260
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... ORPHA:1046
Typical Nemaline Myopathy
Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f... ORPHA:171436
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Increased circulating IgE level, Decreased proportion of class-... OMIM:615767
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight OMIM:182290
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Recurrent skin infections, Abnormality of the kidney, Decreased serum iron, Fl... ORPHA:391372
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti... OMIM:620278
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Bone cyst, Osteolysis ORPHA:2396
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia OMIM:611126
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Splenomegaly, Uveitis, Nephrotic ... ORPHA:575
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr... ORPHA:79078
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Lymphadenopathy, Inflammation of the large intestine, Hernia, Asc... ORPHA:26790
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Anuria, Acute tubulointerstitial nephritis, Tu... ORPHA:340
Riddle Syndrome
Generalized lymphadenopathy, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Rec... ORPHA:420741
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... ORPHA:71212
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Recurrent urinary tract infections, Psoriasiform dermatitis, Decreased ... ORPHA:221139
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... OMIM:258450
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Diabetes mellitus, Abno... ORPHA:1775
Niemann-Pick Disease, Type A
Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Microcytic anemia, Spleno... OMIM:257200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flex... OMIM:608836
Congenital Erythropoietic Porphyria
Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Osteoporosis, Osteolys... ORPHA:79277
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Hyperglycemia, Hypoglycemia, Elevated hepatic transaminase OMIM:615453
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... OMIM:616576
Chikungunya
Joint stiffness, Periostitis, Osteolysis, Synovitis, Enthesitis, Arthritis, Stiff interphalangeal... ORPHA:324625
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... OMIM:618282
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypospadias, Hypoglycemia, Bronchiectasis, Hyperammonemia, Aspiration pneumonia, Neutropenia OMIM:618253
Incontinentia Pigmenti
Eosinophilia, Supernumerary nipple, Camptodactyly of finger, Osteolysis, Hyperhidrosis, Spina bif... ORPHA:464
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Splenomegaly, Cutis laxa, Decreased circulating antibody level, R... OMIM:605309
Dent Disease 1
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... OMIM:300009
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Unusual CNS infection, Increased circulating ... ORPHA:74
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l... OMIM:619381
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Neonatal sepsis, Hypoglycemia, Hyperammonemia, Recurrent infections, 3-Methylglutaconic aciduria,... OMIM:614739
Osteopetrosis, Autosomal Recessive 3
Distal renal tubular acidosis, Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly OMIM:259730
Donohue Syndrome
Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-cell hyperplasia,... OMIM:246200
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... OMIM:610582
Simpson-Golabi-Behmel Syndrome
Omphalocele, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias... ORPHA:373
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflamm... ORPHA:49041
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia, Decreased response to growth hormone stimulation test, Thick eyebrow ORPHA:436174
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Eczema, Lymphadenitis, Splenome... OMIM:615895
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe... ORPHA:51636
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Recurrent infec... ORPHA:541423
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatic steatosis, Hepatomegaly, Atr... OMIM:615846
Vici Syndrome
Lymphopenia, Recurrent respiratory infections, Left ventricular hypertrophy, Elevated circulating... OMIM:242840
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... ORPHA:1145
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Obesity, Increa... ORPHA:412
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia ORPHA:172
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Elevated circulating creatine kinase concentration, Female infer... OMIM:619518
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Dorsocervical fat pad, Paradoxical increased... ORPHA:189427
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Sepsis, Inflammation of the large i... ORPHA:906
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... OMIM:610199
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615947
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Hypoglycemia, Cryptorchidism, Recurrent pneumonia, Recurrent upper respiratory tract... OMIM:607143
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cerebral calcification, Chilblains, Calcification of the a... ORPHA:51
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein ... ORPHA:85414
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Chronic kidney disease, Cholestasis, Gluc... OMIM:615630
Hajdu-Cheney Syndrome
Osteopenia, Recurrent fractures, Splenomegaly, Osteoporosis, Osteolysis, Joint hyperflexibility, ... ORPHA:955
Systemic Sclerosis
Renal insufficiency, Pericarditis, Proteinuria, Abnormality of the kidney, Glomerulonephritis, El... ORPHA:90291
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis OMIM:612126
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Rec... OMIM:214500
Acute Promyelocytic Leukemia
Pancytopenia, Petechiae, Chronic infection, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hema... ORPHA:520
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hyperammonemia, Neutropenia, P... ORPHA:79312
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypoglycemia, Insulin resistance, Low anterior hairline, Low posterior hairline, Hypogonadism ORPHA:73272
Immunodeficiency 10
Autoimmune hemolytic anemia, Lymphadenopathy, Recurrent infections, Recurrent bacterial infection... OMIM:612783
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Skin rash, Eosinophilia, Pustule, Myocarditis, Erythema, Thyroiditis, Hepati... ORPHA:139402
Immunodeficiency 42
Hepatomegaly, Splenomegaly, BCGosis, Recurrent cutaneous fungal infections, Hypoplasia of the thy... OMIM:616622
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea OMIM:604931
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis, Neonatal hypoglycemia OMIM:212138
Mosaic Variegated Aneuploidy Syndrome
Vaginal neoplasm, Osteolysis, Acute lymphoblastic leukemia, Ambiguous genitalia, Hypothyroidism ORPHA:1052
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N... OMIM:105200
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... OMIM:264700
Premature Ovarian Failure 15
Irregular menstruation, Elevated circulating follicle stimulating hormone level, Secondary amenor... OMIM:618096
Alström Syndrome
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... ORPHA:64
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Obesity, Hepatitis, Increased LDL cholesterol concentration, Hypercholester... ORPHA:209902
Scrub Typhus
Anterior uveitis, Renal insufficiency, Skin rash, Splenomegaly, Myocarditis, Meningitis, Lymphade... ORPHA:83317
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... ORPHA:348
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histiocytosis... ORPHA:158029
Immunodeficiency 32A
Lymphadenitis, BCGitis, Recurrent infections, Lymphadenopathy, Granuloma OMIM:614893
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... OMIM:277440
Alstrom Syndrome
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Chr... OMIM:203800
Prolidase Deficiency
Hepatomegaly, Recurrent cystitis, Recurrent respiratory infections, Splenomegaly, Erythema, Crust... ORPHA:742
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Skin ulcer, Lymphadenopathy ORPHA:424019
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, E... OMIM:620005
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Decreased circulating total IgM, Neutropenia, Enamel hypoplasia... ORPHA:2643
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria OMIM:618857
Tempi Syndrome
Abnormality of the kidney, Facial erythema, Increased circulating IgG level, Increased hematocrit... ORPHA:284227
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... OMIM:616866
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma, Reduced serum alpha-1-antitrypsin OMIM:613490
Occipital Horn Syndrome
Osteopenia, Osteomalacia, Osteoporosis, Osteolysis, Rickets, Joint hyperflexibility, Synostosis o... ORPHA:198
Werner Syndrome
Diabetes mellitus, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentr... OMIM:277700
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Rhinitis, Hernia ORPHA:93476
Livedoid Vasculopathy
Pancytopenia, Diabetes mellitus, Superficial dermal perivascular inflammatory infiltrate, Recurre... ORPHA:542643
Leptin Deficiency Or Dysfunction
Recurrent ear infections, Decreased serum leptin, Recurrent pneumonia, Recurrent upper respirator... OMIM:614962
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated hepatic transaminase, Hepatomegaly, Reduced carnitine O-palmitoyltransferase level, Hepa... ORPHA:228305
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Cog8-Cdg
Elevated hepatic transaminase, Hypoglycemia ORPHA:95428
Hypermobile Ehlers-Danlos Syndrome
Abnormality of the menstrual cycle, Osteoarthritis, Cystocele, Limitation of joint mobility, Oste... ORPHA:285
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia... OMIM:194080
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hypouricemia, Elevated circulating aspartate aminotransferas... OMIM:227810
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Hemolytic anemi... OMIM:619487
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Hypoglycemia, Synophrys, Low anterior hairline, Fine hair, Sparse hair, Hypoth... ORPHA:391408
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Flexion contracture OMIM:619026
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... ORPHA:289157
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Recurrent urinary tract... ORPHA:361
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Giant Cell Arteritis
Renal insufficiency, Pericarditis, Mediastinal lymphadenopathy, Meningitis, Recurrent pharyngitis... ORPHA:397
Tenorio Syndrome
Hypoglycemia, Recurrent pneumonia, Enuresis, Keratoconjunctivitis sicca, Recurrent aphthous stoma... OMIM:616260
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Proteinuria, Heparan sulfate excretion in urine, Thrombocytopen... ORPHA:505248
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Hypoglycemia, Chronic pancrea... OMIM:232240
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... ORPHA:567546
Fgfr2-Related Bent Bone Dysplasia
Extramedullary hematopoiesis, Hepatosplenomegaly ORPHA:313855
B4Galt1-Cdg
Hepatomegaly, Inflammatory abnormality of the skin, Redundant neck skin, Elevated circulating cre... ORPHA:79332
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Femoral hernia, Cryptorchidism, Hyperinsuline... ORPHA:2849
Idiopathic Bronchiectasis
Acute infectious pneumonia, Recurrent lower respiratory tract infections, Bronchiectasis, Recurre... ORPHA:60033
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Erythroderma, Lymphadenopathy, Abnormality of the liver,... ORPHA:79456
Histidinuria-Renal Tubular Defect Syndrome
Hypoglycemia ORPHA:2158
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... ORPHA:228308
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Increased circulating IgE level, Cra... ORPHA:330015
Luscan-Lumish Syndrome
Irregular menstruation, Advanced ossification of carpal bones, Polycystic ovaries OMIM:616831
Rabson-Mendenhall Syndrome
Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose ... ORPHA:769
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin conc... ORPHA:90041
Silver-Russell Syndrome Due To A Point Mutation
Hypothyroidism, Cryptorchidism, Hypoglycemia, Dysmenorrhea ORPHA:397590
Immunodeficiency 21
Osteomyelitis, Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Rec... OMIM:614172
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... OMIM:618969
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... ORPHA:284
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Infantile Systemic Hyalinosis
Camptodactyly of finger, Skin ulcer, Recurrent bacterial infections, Abnormality of the adrenal g... ORPHA:2176
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Hemophagocytosis, Skin ulcer, Hepatosplenomegaly ORPHA:86884
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Calcinosis, Li... OMIM:248370
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... OMIM:619658
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Beckwith-Wiedemann Syndrome
Ureteral duplication, Redundant skin, Congenital diaphragmatic hernia, Cardiomegaly, Neonatal hyp... ORPHA:116
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility ORPHA:1901
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eosinophilia, Eczema, Increased circu... ORPHA:2314
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferas... OMIM:256810
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri... OMIM:603358
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Stillbi... ORPHA:85212
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... OMIM:233650
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic stea... OMIM:618329
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Cryptorchidism, Fine hair, Recurrent hypoglycemia, Sparse hair, Hypothyroidism OMIM:616817
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve... OMIM:618523
Hypophosphatemic Rickets, X-Linked Dominant
Hypophosphatemic rickets, Osteoarthritis, Rickets, Osteomalacia OMIM:307800
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Recurrent respiratory infections, Eczema, Oligoarthritis, Persistent EBV viremia, De... OMIM:619510
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica... OMIM:231680
Cutaneous Mastocytoma
Erythema, Maculopapular exanthema, Scaling skin, Lymphadenopathy ORPHA:79455
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypoglycemia, Elevated circulating cr... OMIM:614921
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Hyperinsulinemia ORPHA:66518
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Skin ulcer, Arthritis, Cel... ORPHA:231
Chime Syndrome
Osteolysis, Acute leukemia ORPHA:3474
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulating creatine kinase concentratio... ORPHA:26791
Hypotonia-Cystinuria Syndrome
Long eyelashes, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation ... OMIM:606407
Silver-Russell Syndrome 1
Testicular seminoma, Decreased response to growth hormone stimulation test, Fasting hypoglycemia,... OMIM:180860
American Trypanosomiasis
Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Lymphadenopathy, Pallor, Infectious encephalitis ORPHA:3386
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce... OMIM:617638
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit... ORPHA:314478
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Aapoaiv Amyloidosis
Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid dep... ORPHA:439232
Neuraminidase Deficiency
Hepatomegaly, Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bon... OMIM:256550
Malonyl-Coa Decarboxylase Deficiency
Hypoglycemia OMIM:248360
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Elevated circulating sitosterol conce... OMIM:210250
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Thro... ORPHA:64743
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro... OMIM:619752
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Rickets OMIM:607765
Pituitary Hormone Deficiency, Combined, 6
Ectopic posterior pituitary, Posterior pituitary hypoplasia, Hypoglycemia, Neonatal hypoglycemia OMIM:613986
Immunodeficiency 43
Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa... OMIM:241600
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Elevated circulating creat... ORPHA:565612
Kenny-Caffey Syndrome, Type 1
Small hand, Thin ribs, Short foot, Recurrent bacterial infections, Slender long bone, Short palm OMIM:244460
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Neonatal hypoglycemia, Renal sal... ORPHA:90791
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Hepatomegaly, Pericarditis, Proteinuria, Hypergonadotropic hypogonadism, Abnor... OMIM:212065
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... ORPHA:52901
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... ORPHA:699
Congenital Myopathy 22A, Classic
Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co... OMIM:620351
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Severe infection, Hy... ORPHA:251380
Mitochondrial Trifunctional Protein Deficiency 2
Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a... OMIM:620300
Holoprosencephaly
Hyponatremia, Omphalocele, Hypoplasia of penis, Diabetes mellitus, Proteinuria, Hypoglycemia, Con... ORPHA:2162
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Intermittent jaundice, Hyperbilirubinemia, Reticulocytosis OMIM:179700
Glucocorticoid Deficiency 1
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... OMIM:202200
Lysosomal Acid Lipase Deficiency
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... ORPHA:275761
Wolman Disease
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency,... ORPHA:75233
Castleman Disease
Renal insufficiency, Generalized lymphadenopathy, Increased circulating interleukin 6 concentrati... ORPHA:160
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Bachmann-Bupp Syndrome
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Hypoglycemia, Cryptorchidism OMIM:619075
Mycosis Fungoides
Erythema, Eczema, Psoriasiform dermatitis, Lymphadenopathy OMIM:254400
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Hypoglycemia, Frontal balding, Oligozoospermia, Increased circulating cortis... ORPHA:786
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in infancy, Obesity ORPHA:819
Rift Valley Fever
Skin rash, Jaundice, Severe viral infection, Hepatitis, Uveitis, Hematuria, Increased circulating... ORPHA:319251
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Spl... ORPHA:90340
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Timothy Syndrome
Hypoglycemia, Pneumonia, Cardiomegaly, Recurrent infections, Hypocalcemia, Hypothyroidism OMIM:601005
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Elevated circulating C-reactive protein concentration, Abnormal lymphocyte pr... OMIM:619573
Majeed Syndrome
Glomerulopathy, Hepatomegaly, Inflammatory abnormality of the skin, Proteinuria, Acne, Osteomyeli... ORPHA:77297
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... OMIM:606721
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal a... OMIM:612541
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Neonatal sepsis, Decreased circulating cortisol level, Adrenal hyperplasia, Hypogly... ORPHA:90790
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallb... ORPHA:171
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... OMIM:618213
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... OMIM:131100
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Chronic otitis media, Increased variability in muscle fiber diameter, Type 1 muscle fiber predomi... OMIM:612949
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Osteoporosis, Thyroiditis, Rickets, Iron deficiency anemia, Infertility, Throm... OMIM:212750
Immunodeficiency 92
Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Cholangitis, Pneumonia, Persistent CMV viremi... OMIM:619652
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Central hypothyroidis... ORPHA:514
Hereditary Orotic Aciduria
Recurrent respiratory infections, Orotic acid crystalluria, Impaired T cell function, Splenomegal... ORPHA:30
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Renal lymphocytic tubulitis, Elevated circulating C-reactive protein concentra... ORPHA:91500
Hennekam Syndrome
Recurrent respiratory infections, Camptodactyly of finger, Ectopic kidney, Splenomegaly, Pulmonar... ORPHA:2136
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Tsh-Secreting Pituitary Adenoma
Osteopenia, Hyperhidrosis, Male hypogonadism, Hyperthyroidism, Hypogonadotropic hypogonadism, Ost... ORPHA:91347
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Elevated circulating creatinin... ORPHA:230
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Ovari... OMIM:228300
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Ascites OMIM:614702
Hsd10 Disease, Infantile Type
Hypoglycemia, Cardiomegaly, Hyperammonemia, Abnormal concentration of acylcarnitine in the urine,... ORPHA:391428
Sepsis In Premature Infants
Neonatal sepsis, Hepatomegaly, Increased circulating interleukin 6 concentration, Petechiae, Diss... ORPHA:90051
Malakoplakia
Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Follicular hyperplasia, Or... ORPHA:556
Mogs-Cdg
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Decreased circulating antibody level, H... ORPHA:79330
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc... OMIM:255125
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Meningitis, Cervical lymphadeno... OMIM:617718
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Precocious puberty, Hepatosplenomegaly, Cholecystitis, Recurrent otit... OMIM:301066
Wilson Disease
Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoaciduria, Hypoalbuminemia... OMIM:277900
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy ORPHA:79292
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... OMIM:619461
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Anemia ORPHA:99927
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter, Gout OMIM:232800
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased body weight, Abdominal obesity, Hyperglycemia OMIM:615954
Adrenocortical Carcinoma
Increased urinary cortisol level, Striae distensae, Diabetes mellitus, Paradoxical increased cort... ORPHA:1501
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Neutrophilia, Eosinophilia, Pu... ORPHA:293173
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Hyperlipoproteinemia, Type I
Hyperlipidemia, Jaundice, Lactescent serum, Increased circulating chylomicron concentration, Hype... OMIM:238600
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Hypoglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Pallor, Throm... ORPHA:134
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Tick-Borne Encephalitis
Elevated circulating C-reactive protein concentration, Meningitis, Leukocytosis, Unusual CNS infe... ORPHA:297
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Decreased platelet glycoprotein Ib OMIM:603585
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Immunoneurologic Disorder, X-Linked
Neonatal death, Decreased circulating IgG2 level, Functional abnormality of the bladder OMIM:300076
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Atypical scarring of skin, Hypogonadism, Type II diabetes ... ORPHA:791
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level, Functional abnormality of the bladder, Recurrent respiratory in... ORPHA:2571
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Reduced natural killer ce... OMIM:608233
Leigh Syndrome
Multiple joint contractures, Hypoglycemia, Eczema, Severe viral infection, Lacticaciduria, Methyl... ORPHA:506
Short Syndrome
Inguinal hernia, Small for gestational age, Lipoatrophy, Lipodystrophy, Insulin resistance, Absen... OMIM:269880
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated circu... OMIM:619355
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, Autoimmune t... ORPHA:227990
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Purpura, Pneumonia, Autoimmune thrombocytopenia, Lymphadenopath... OMIM:607944
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Skin rash, Elevated circulating C-reactive protein con... ORPHA:50918
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Urethral stricture, Renal insufficiency, Foot joint contracture, Glomerulonephritis, Recurrent sk... ORPHA:79408
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated... OMIM:201475
Immunodeficiency 22
Pericarditis, Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Decreased ... OMIM:615758
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Atypical Werner Syndrome
Renal neoplasm, Hepatic steatosis, Diabetes mellitus, Hypertriglyceridemia, Lipoatrophy, Abnormal... ORPHA:79474
Primary Ciliary Dyskinesia
Male infertility, Recurrent sinopulmonary infections, Female infertility, Recurrent mycobacterial... ORPHA:244
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Jaundice, Cholesta... OMIM:617156
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Type II diabetes mellitus, Kelo... ORPHA:3085
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentr... ORPHA:26793
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Inguinal hernia, Redundant neck skin, Thyroid lymphangiectasia, Splenomegaly, Pancr... OMIM:235255
Zygomycosis
Brain abscess, Splenic abscess, Osteolysis, Neutropenia ORPHA:73263
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Recurrent respi... OMIM:618278
Pulmonary Non-Tuberculous Mycobacterial Infection
Mycobacterium abscessus abscessus infection, Disseminated nontuberculous mycobacterial infection,... ORPHA:411703
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... OMIM:157640
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Tubulointerstitial nephritis, Leukopenia, Hash... ORPHA:227982
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Throm... OMIM:619463
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Hepatomegaly, Hypospadias, Hypoglycemia, Splenomegaly, Lacticacid... OMIM:252010
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... ORPHA:83469
Werner Syndrome
Renal neoplasm, Lipodystrophy, Lipoatrophy, Insulin resistance, Lack of skin elasticity, Skin ulc... ORPHA:902
Iron Overload, Susceptibility To
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... OMIM:620121
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Hypoglycemia, Thrombocytopenia OMIM:617710
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
Thyroid Lymphoma
Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia OMIM:210200
Aceruloplasminemia
Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentration, Acerulopla... OMIM:604290
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Premature ovarian insufficiency, Aplastic anemia... ORPHA:221008
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... ORPHA:309854
Pyruvate Kinase Deficiency Of Red Cells
Decreased hemoglobin concentration, Reticulocytosis, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepatic cholestasis, Lymphadenopathy... ORPHA:1333
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Fasting hypoglycemia, Hepatic failure, Hypoketotic h... ORPHA:159
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Propionyl-CoA carboxylase deficiency, Alopecia, Hypoglycemia OMIM:210210
Glutaric Acidemia I
Reduced peroxisomal glutaryl-CoA oxidase activity, Hepatomegaly, Hypoglycemia OMIM:231670
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Hypoglycemia OMIM:229700
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Inguinal hernia, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibo... OMIM:248500
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Cho... OMIM:609015
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hypertriglyceridemia, Obesity, Abnormal circulating creatine kinas... ORPHA:98907
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Hypospadias, Neonatal hypoglycemia, Decreased circulating IgA level ORPHA:457485
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Houge-Janssens Syndrome 1
Hypoglycemia OMIM:616355
Familial Multiple Lipomatosis
Insulin resistance, Hyperlipidemia, Lipodystrophy, Increased adipose tissue ORPHA:199276
Shashi-Pena Syndrome
Hypoglycemia, Highly arched eyebrow, Synophrys, Long eyelashes, Hypertrichosis OMIM:617190
Flynn-Aird Syndrome
Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus, Skin ... ORPHA:2047
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Hypoth... ORPHA:66634
Cystinosis
Rickets ORPHA:213
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Reduced bone mineral density, I... ORPHA:2909
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodon... ORPHA:534
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Primary amenorrhea ORPHA:247768
3-Methylglutaconic Aciduria, Type Viib
Neonatal hypoglycemia, Flexion contracture, Recurrent pneumonia, Recurrent infections, Leukopenia... OMIM:616271
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Nephrocalcinosis, Neutropenia, Recurrent lower respiratory tract infections, Joint ... OMIM:618005
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Nonketotic hypoglycemia, Elevated hepatic transaminase, Increased circulat... ORPHA:99901
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Spleno... OMIM:181000
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Wiskott-Aldrich Syndrome
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, In... OMIM:301000
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ... OMIM:175700
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Primary hyper... OMIM:239200
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Ketonuria, Leukocytosis, Jaundice, Lip... ORPHA:20
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... OMIM:616503
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... OMIM:617765
Dent Disease
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... ORPHA:1652
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:79126
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... OMIM:619705
Optic Atrophy 11
Facial diplegia, Increased variability in muscle fiber diameter, Fiber type grouping OMIM:617302
Melnick-Needles Syndrome
Omphalocele, Recurrent respiratory infections, Bowing of the long bones, Coxa valga, Abnormal rib... ORPHA:2484
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Oculoskeletodental Syndrome
Hepatomegaly, Renal agenesis, Hypercalcemia, Splenomegaly, Cryptorchidism, Elbow flexion contract... OMIM:618440
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess OMIM:619986
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Long pen... ORPHA:508
Wilson Disease
Abnormality of the menstrual cycle, Splenomegaly, Anemia, Arthritis, Pathologic fracture, Thrombo... ORPHA:905
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveitis OMIM:612387
Actinic Prurigo
Cheilitis, Pyoderma, Glomerulonephritis OMIM:174770
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Decreased serum insulin-like growth factor 1, Eczema, Increased circulating IgE level, Thyroiditi... OMIM:618985
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Brittle hair, Hypoglycemia, Cholangitis, Microvesicular hepatic st... OMIM:124000
Orthostatic Hypotension 1
Retrograde ejaculation, Neonatal hypoglycemia, Reduced circulating prolactin concentration OMIM:223360
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy... ORPHA:31150
Takayasu Arteritis
Increased inflammatory response, Skin ulcer, Arthritis, Inflammatory abnormality of the eye, Anemia ORPHA:3287
Nephroblastoma
Hematuria, Neoplasm of the liver, Nephroblastoma, Lymphadenopathy ORPHA:654
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Anemia, Interstitial pn... OMIM:620296
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hyperbilirubinemia, Steatorrhea OMIM:235555
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Immunodeficiency 55
Absent natural killer cells, Recurrent skin infections, Eczema, Dry skin, Lymphadenopathy, Recurr... OMIM:617827
Poikiloderma With Neutropenia
Skin rash, Elevated circulating creatine kinase concentration, Splenomegaly, Recurrent bronchopul... OMIM:604173
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne... OMIM:300908
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Inguinal hernia, Heparan sulfate excretion in urine, Splenomegaly, Recurrent upper ... OMIM:252900
Myotonic Dystrophy 2
Elevated circulating creatine kinase concentration, Oligozoospermia, Decreased circulating total ... OMIM:602668
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Pallor, Increased total bilirubin ORPHA:90037
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Increased circulati... ORPHA:168558
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Lymphadenopathy, Abnormal liver parenchyma morphology, Pheochromocyt... ORPHA:1332
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia ORPHA:163596
Aceruloplasminemia
Refractory anemia, Decreased circulating ceruloplasmin concentration, Diabetes mellitus, Decrease... ORPHA:48818
Tarp Syndrome
Cryptorchidism, Extramedullary hematopoiesis, Hydronephrosis, Horseshoe kidney ORPHA:2886
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnormal intrahepatic bile duct morph... ORPHA:562639
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Hypoargininemia, Hyperglutaminem... OMIM:615751
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly OMIM:618107
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, External genital hypoplasia, Flexion contracture, Osteoporosis, Rickets... ORPHA:2671
Cleidocranial Dysplasia 2
Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior fontanel, Genu valgum, Delay... OMIM:620099
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Anaplastic thyroid carcinoma, Lymphadenopathy ORPHA:142
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:609049
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Inguinal hernia, Redundant neck skin, Splenomegaly, Pancreatic lymphangiectasis, Ab... ORPHA:1655
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
D-Glyceric Aciduria
Reduced hepatic D-glycerate kinase activity, Hypoglycemia OMIM:220120
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Petechiae, Increased mean pl... OMIM:314050
Bloom Syndrome
Elevated hemoglobin A1c, Cryptorchidism, Recurrent upper respiratory tract infections, Bronchiect... OMIM:210900
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... OMIM:611881
Acrogeria
Excessive wrinkled skin, Lipoatrophy, Skin ulcer ORPHA:2500
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Sepsis, Leukopenia, Aminoaciduria, Hypocalc... OMIM:619991
Hereditary Fructose Intolerance
Hepatomegaly, Reduced circulating aldolase concentration, Reactive hypoglycemia, Episodic hyperhi... ORPHA:469
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Maculopapular exanthema, Skin rash... ORPHA:398124
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Myopathy, Increased variability in muscle fiber diameter OMIM:604377
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti... ORPHA:3202
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Flexion contracture, Recurrent upper respiratory... ORPHA:333
Netherton Syndrome
Recurrent respiratory infections, Recurrent skin infections, Eczema, Allergic rhinitis, Increased... OMIM:256500
Tetrasomy 9P
Arthritis, Myositis, Pericarditis ORPHA:3310
Aspergillosis
Sinusitis, Osteomyelitis, Eosinophilia, Abnormality of the kidney, Pneumonia, Keratitis, Meningit... ORPHA:1163
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Cholestasis, Diffuse hepatic steatosis, Chronic hepatic failure, Hypoketotic ... ORPHA:746
Familial Mediterranean Fever
Pericarditis, Proteinuria, Skin rash, Orchitis, Splenomegaly, Peritonitis, Erythema, Osteoarthrit... ORPHA:342
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia, Supernumerary nipple ORPHA:457279
Aica-Ribosuria Due To Atic Deficiency
Hypoglycemia OMIM:608688
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated hepatic transaminase, Compensated hypothyroidism, Hypoglycemia, Hypoglycemic seizures ORPHA:480864
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Elevated circulating alpha-fetoprotein concentration, Increased hepatitis B vi... ORPHA:90003
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Glomerulopathy, Renal insufficiency, Ketonuria, Hypomethioninemia, Hypogl... ORPHA:79282
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, ... ORPHA:64744
Cholera
Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Abnormal blood ion concentration, Hyp... ORPHA:173
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... OMIM:194380
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Diabetes mellitus, Hypertriglyceridemia, Obesity, Abnormal circula... ORPHA:98908
Zika Virus Disease
Maculopapular exanthema, Skin rash, Meningitis, Increased circulating IgM level, Arthritis, Conju... ORPHA:448237
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Hypoketotic hypoglycemia, Dry skin, Increased circulating f... OMIM:610768
Plague
Hepatomegaly, Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymphadenitis, Meningitis, ... ORPHA:707
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... OMIM:607459
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Cerebral calcification, Muscular dystrophy OMIM:616538
Silver-Russell Syndrome
Cryptorchidism, Insulin resistance, Hyperhidrosis, Recurrent hypoglycemia, Decreased testicular size ORPHA:813
Dystrophic Epidermolysis Bullosa Pruriginosa
Atrophic scars, Increased circulating IgE level, Scarring ORPHA:89843
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:161200
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:619313
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Obesity OMIM:619737
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Small for gestational age, Portal hypertension, Conjugated hyperbi... ORPHA:567983
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Digeorge Syndrome
Impaired T cell function, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the t... OMIM:188400
Combined Oxidative Phosphorylation Defect Type 39
Cryptorchidism, Abnormal circulating enzyme concentration or activity, Neonatal hypoglycemia ORPHA:565624
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Finger symphalangism, Synostosi... ORPHA:221016
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Flexion contracture, Knee osteoarthritis, Oligoarthritis, Uveitis, Enthesitis, Lym... ORPHA:85408
Netherton Syndrome
Recurrent respiratory infections, Skin rash, Eczema, Ectopic kidney, Increased circulating IgE le... ORPHA:634
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Foot osteomyelitis, Acral ulceration, Skin ulcer ORPHA:139578
Hurler-Scheie Syndrome
Hepatomegaly, Inguinal hernia, Recurrent respiratory infections, Camptodactyly of finger, Heparan... OMIM:607015
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Ketonuria, Hypoglycemia, Elevated circulating creatine kinase concentration, Premature thelarche,... OMIM:616878
African Trypanosomiasis
Hepatomegaly, Renal insufficiency, Pericarditis, Urinary incontinence, Abnormality of the endocri... ORPHA:3385
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Tooth absces... ORPHA:89936
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly, Erythema, Panniculitis, Inflammatory abnormality of the eye ORPHA:33577
Native American Myopathy
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt... ORPHA:168572
Riddle Syndrome
Decreased circulating IgG level, Dry skin OMIM:611943
Chilblain Lupus 1
Chilblains, Skin ulcer OMIM:610448
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Widened atrophic scar, Hypertriglyceridemia, Diabetes mellitus, ... ORPHA:536532
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Beaded ribs, Bowing of the legs, Hy... OMIM:200600
Familial Renal Glucosuria
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... ORPHA:69076
Glycerol Kinase Deficiency
Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Hypoglycemia OMIM:307030
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Osteoporosis, Oligomenorrhea OMIM:219090
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Sarcoidosis
Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hypo... ORPHA:797
Malt Lymphoma
Recurrent respiratory infections, Abnormality of the thyroid gland, Mediastinal lymphadenopathy, ... ORPHA:52417
Mucopolysaccharidosis Type 6
Sinusitis, Splenomegaly, Recurrent upper respiratory tract infections, Mucopolysacchariduria, Her... ORPHA:583
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoglycemia, Elevated circulating creatine kinase concentration, Aminoaciduria, Hypoalbuminemia,... OMIM:619055
Granulomatosis With Polyangiitis
Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C... ORPHA:900
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T... ORPHA:90068
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Increased circulating IgE level, Ab... ORPHA:3409
Bardet-Biedl Syndrome 9
Truncal obesity, Hyperglycemia, Obesity OMIM:615986
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperg... OMIM:609069
Sickle Cell Disease
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarcti... OMIM:603903
Melkersson-Rosenthal Syndrome
Cheilitis, Inflammatory abnormality of the skin, Lymphadenopathy, Oligosacchariduria ORPHA:2483
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Increased muscle glycogen content, Increased intr... ORPHA:502423
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter OMIM:615595
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Pheochromocytoma, Pallor, Elevated urinary vanill... ORPHA:653
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hypoglycemia, Lactic... ORPHA:3008
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Increased circulating IgE level, Recurrent bronchiolitis, Recurrent pneumonia OMIM:616069
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Abnormal... ORPHA:320
Basilicata-Akhtar Syndrome
Precocious puberty, Neonatal hypoglycemia, Camptodactyly OMIM:301032
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Lipodystrophy, Recurrent shoulder dislocation, Hypergonadotropic hypogonadism, Down-sloping shoul... OMIM:212112
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Facial palsy OMIM:616720
Interstitial Lung Disease 2
Increased circulating antibody level, Cirrhosis OMIM:178500
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy ORPHA:363618
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia, Skin ulcer, Hepatospleno... ORPHA:2072
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Isolated Sedoheptulokinase Deficiency
Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Steatorrhea, Postprandial h... ORPHA:440713
Obesity And Hypopigmentation
Hepatic steatosis, Hyperinsulinemia OMIM:620195
17Q11 Microdeletion Syndrome
Osteopenia, Osteoporosis, Osteolysis, Leukemia, Thickened cortex of long bones ORPHA:97685
Sotos Syndrome
Sparse eyebrow, Cryptorchidism, Glucose intolerance, Prolonged neonatal jaundice, High anterior h... OMIM:117550
Cleidocranial Dysplasia
Recurrent respiratory infections, Hypoplastic scapulae, Abnormal dental enamel morphology, Down-s... ORPHA:1452
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Hepatomegaly, Recurrent respiratory infections, Abnormal mitochondrial sh... ORPHA:17
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... OMIM:249100
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Hypoglycemia OMIM:620275
Parkes Weber Syndrome
Skin ulcer, Abnormal lymphatic vessel morphology, Nephrotic syndrome, Abnormality of the urinary ... ORPHA:90307
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Interstitial Cystitis
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... ORPHA:37202
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers ORPHA:70595
Calciphylaxis
Stage 5 chronic kidney disease, Skin ulcer, Sepsis, Hyperphosphatemia, Secondary hyperparathyroid... ORPHA:280062
X-Linked Dominant Chondrodysplasia Punctata
Scarring alopecia of scalp, Flexion contracture, Scaling skin, Erythroderma, Hydronephrosis, Neon... ORPHA:35173
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steat... OMIM:613070
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... OMIM:301068
Microscopic Polyangiitis
Episcleritis, Glomerulopathy, Renal insufficiency, Sinusitis, Increased inflammatory response, Pe... ORPHA:727
Neutrophilic Dermatosis, Acute Febrile
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... OMIM:608068
Isolated Complex I Deficiency
Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Proximal tubulopathy ORPHA:2609
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Hepatomegaly, Decreased proportion of CD8-positive T cells, Increased circulating Ig... ORPHA:508533
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Long eyelashes, Broad lateral eyebrow, Neonatal hypoglycemia OMIM:608624
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... OMIM:308050
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Premature adrena... ORPHA:90794
Dubowitz Syndrome
Inguinal hernia, Hypospadias, Aplastic anemia, Eczema, Cryptorchidism, Recurrent infections, Acut... OMIM:223370
Secondary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating IgG1 level, Reduced circulating transferrin concentration, Chy... ORPHA:90363
Fucosidosis
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Flexion contracture, ... OMIM:230000
Xp21 Deletion Syndrome
Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:261476
Vici Syndrome
Recurrent respiratory infections, Decreased circulating IgG2 level, Ureteral atresia, Recurrent i... ORPHA:1493
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le... ORPHA:90033
Non-Epidermolytic Palmoplantar Keratoderma
Erythema, Skin ulcer ORPHA:2337
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... OMIM:601847
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Lymphadenopathy, Hypocalcemia, Pall... ORPHA:667
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Caffey Disease
Increased circulating antibody level, Cellulitis ORPHA:1310
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Al Amyloidosis
Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab... ORPHA:85443
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia OMIM:617600
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... ORPHA:358
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th... OMIM:208540
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level, Bilateral cryptorchidism, Abdominal adhesions, Recurrent infecti... OMIM:616395
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated hemoglobin A1c, Flexion contracture... OMIM:619127
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Thromboc... OMIM:222700
Rajab Interstitial Lung Disease With Brain Calcifications 1
Inguinal hernia, Recurrent urinary tract infections, Pancytopenia, Hypoglycemia, Portal hypertens... OMIM:613658
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, Increased... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, Increased... ORPHA:99228
Monosomy X
Osteopenia, Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, Increased... ORPHA:99226
Turner Syndrome
Osteopenia, Premature ovarian insufficiency, Female infertility, Hashimoto thyroiditis, Increased... ORPHA:881
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Acquired Purpura Fulminans
Skin rash, Elevated circulating C-reactive protein concentration, Pyoderma gangrenosum, Sepsis, M... ORPHA:49566
Chronic Mucocutaneous Candidiasis
Recurrent respiratory infections, Recurrent urinary tract infections, Skin rash, Abnormal dental ... ORPHA:1334
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmal... OMIM:275350
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low alkaline phosphatase, Hypertriglyceridemia, Hypercalcemia, Obesity ORPHA:369837
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgE le... ORPHA:2902
Isolated Biliary Atresia
Hepatomegaly, Dark yellow urine, Conjugated hyperbilirubinemia, Splenomegaly, Atretic gallbladder... ORPHA:30391
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Cryptorchidism, Small hand, Short foot, Recurrent bacterial infections, Short palm OMIM:241410
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Cryptorchidism, Low anterior hairline, Hypoglycemia OMIM:620224
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Distal amyotrophy, Increased variability in muscle fiber diame... OMIM:164310
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Ileal Neuroendocrine Tumor
Extrahepatic cholestasis, Lymphadenopathy, Iron deficiency anemia, Small intestine carcinoid, Inc... ORPHA:100078
Trichothiodystrophy 1, Photosensitive
Flexion contracture, Absence of subcutaneous fat, Dry skin, Recurrent infections, Keratoconjuncti... OMIM:601675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ... OMIM:613150
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Inguinal hernia, Splenomegaly, Hepatitis, Mucopolysacchariduria... ORPHA:584
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Knee... OMIM:609945
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Methanol Poisoning
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus ORPHA:31825
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy OMIM:619424
Peeling Skin Syndrome 1
Scaling skin, Increased circulating IgE level, Eosinophilia, Erythroderma OMIM:270300
D-Glyceric Aciduria
Hyperglycinemia, Nonketotic hyperglycinemia, Hyperglycinuria, Increased circulating free fatty ac... ORPHA:941
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Catastrophic Antiphospholipid Syndrome
Abnormality of the kidney, Myocarditis, Skin ulcer, Arthritis, Coombs-positive hemolytic anemia, ... ORPHA:464343
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Colitis, Pallor, Neutrophilia, Leukocytosis, Hepatosple... ORPHA:3260
Menkes Disease
Inguinal hernia, Osteomyelitis, Hypoglycemia, Sepsis, Atypical scarring of skin, Bladder divertic... ORPHA:565
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Decreased circulating renin level, Isosexual precocious pub... ORPHA:90795
Say-Barber-Miller Syndrome
Eczema, Erythema nodosum, Cryptorchidism, Transient hypogammaglobulinemia of infancy, Elbow flexi... ORPHA:3132
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Short metacarpal... OMIM:300106
Polyarteritis Nodosa
Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, E... ORPHA:767
Aplasia Cutis Congenita
Skin ulcer ORPHA:1114
Glycogen Storage Disease Ii
Hepatomegaly, Recurrent respiratory infections, Increased circulating NT-proBNP concentration, Ur... OMIM:232300
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Reduced... OMIM:242860
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Central adrenal insufficiency, Hypoglycemia, Decreased response to growth hormone stimulation tes... OMIM:616007
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Hepat... OMIM:229600
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl... ORPHA:77293
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Proteinuria, Recurrent myoglobinuria, Hypergonadotropic hypogonadism, Elevated circ... OMIM:607426
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... OMIM:607626
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia OMIM:618183
Costello Syndrome
Renal insufficiency, Redundant neck skin, Hypoglycemia, Achilles tendon contracture, Lymphangiect... OMIM:218040
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Sepsis, Leukopenia, Increased circulating... ORPHA:319218
Distal Renal Tubular Acidosis
Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine... ORPHA:18
Melnick-Needles Syndrome
Omphalocele, Recurrent respiratory infections, Short humerus, Hypoplastic scapulae, Coxa valga, F... OMIM:309350
Cole Disease
Hyperglycemia, Abnormal blood phosphate concentration OMIM:615522
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy OMIM:617675
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypoka... OMIM:617913
Limited Cutaneous Systemic Sclerosis
Joint contracture of the hand, Foot joint contracture, Skin ulcer ORPHA:220402
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase ORPHA:681
Pneumocystosis
Pneumocystis jirovecii pneumonia, Abnormal neutrophil count, Acute infectious pneumonia, Intersti... ORPHA:723
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Adrenocortical adenoma, Pheochromocytoma, P... ORPHA:139411
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Short metacarpal, Monkey wrench femoral neck, Coxa valga, Metaphyseal widen... OMIM:615777
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Erythema Elevatum Diutinum
Skin vesicle, Increased circulating antibody level, Skin rash ORPHA:90000
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Petechiae, Increased mean platelet volume, Impaired ristocetin-induced platelet... OMIM:153670
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Adams-Oliver Syndrome 5
Inguinal hernia, Hypersplenism, Splenomegaly, Portal vein thrombosis, Umbilical hernia, Right ven... OMIM:616028
Xylt1-Cdg
Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles, Broad ribs, ... ORPHA:370930
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo... ORPHA:288
Biotinidase Deficiency
Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Hyperamm... OMIM:253260
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Hypoglycemia, Thyroid carcinoma, Lipoma, Hashimoto thyroiditis ORPHA:109
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating cortisol level, Micropenis, Decreased circulating renin level, Hyponatremia... OMIM:201750
Shwachman-Diamond Syndrome
Sinusitis, Skin rash, Eczema, Pneumonia, Recurrent viral infections, Osteomyelitis, Sepsis, Recur... ORPHA:811
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Necrotizing Enterocolitis
Hyponatremia, Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis ORPHA:391673
Aplasia Cutis-Myopia Syndrome
Meningitis, Skin ulcer ORPHA:1117
Primary Biliary Cholangitis
Portal hypertension, Increased circulating IgA level, Abnormality of the thyroid gland, Conjugate... ORPHA:186
22Q11.2 Deletion Syndrome
Impaired T cell function, Hypoplasia of the thymus, Hypocalcemia, Vesicoureteral reflux, Chronic ... ORPHA:567
Klippel-Trénaunay Syndrome
Microcytic anemia, Abnormality of the menstrual cycle ORPHA:90308
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Lymphangioleiomyomatosis
Abnormal urinary color, Renal neoplasm, Recurrent respiratory infections, Abnormality of the lymp... ORPHA:538
Brachydactyly, Type E1
Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly OMIM:113300
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cryptorchidism, Osteoarthritis, Cystocele, Osteolysis, Joint hyperflexibility, Uteri... ORPHA:286
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Perlman Syndrome
Nephrogenic rest, Hypoglycemia, Renal hamartoma, Congenital diaphragmatic hernia, Cryptorchidism,... OMIM:267000
Neurooculorenal Syndrome
Hypoplasia of the bladder, Decreased circulating cortisol level, Ectopic posterior pituitary, Uni... OMIM:620305
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Nodular regenerative hyperplasia of liver, ... ORPHA:247691
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, 2-3 toe cutaneous syndactyly, Knee flexion contracture, Femoral bowing,... OMIM:600920
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of the endocrine system, ... ORPHA:79329
Lethal Congenital Contracture Syndrome 10
Macroglossia, Increased variability in muscle fiber diameter, Torticollis OMIM:617022
Buerger Disease
Skin ulcer ORPHA:36258
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Interstitial pneumonitis, Scaling skin, Granulo... ORPHA:454831
Hereditary Sensory And Autonomic Neuropathy Type 1
Osteomyelitis, Penetrating foot ulcers, Skin ulcer ORPHA:36386
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Hutchinson-Gilford Progeria Syndrome
Limitation of movement at ankles, Female hypogonadism, Joint stiffness, Limited wrist movement, O... ORPHA:740
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Recurrent skin infections, Decreased serum iron, Flexion contracture, Atypical scarring of skin, ... ORPHA:89842
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,... OMIM:233450
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Oculodentodigital Dysplasia
Curly hair, Brittle hair, Slow-growing hair, Hypoglycemia, Fine hair, Sparse hair ORPHA:2710
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele... ORPHA:53693
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased response to growth hormone stimulation test, Cryptorchidism, Insulin resistance, Hyperh... ORPHA:96182
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Skin ulcer, Chronic otitis media, Chronic sinusitis, Recurrent bro... OMIM:604571
Reynolds Syndrome
Hepatomegaly, Skin rash, Jaundice, Skin ulcer, Arthritis, Keratoconjunctivitis sicca, Cirrhosis, ... ORPHA:779
Toxic Epidermal Necrolysis
Recurrent respiratory infections, Renal insufficiency, Dysuria, Abnormality of the urethra, Throm... ORPHA:537
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Lipoma, Splenomegaly, Nephroblastoma, Renal hypoplasia OMIM:612918
Japanese Encephalitis
Hyponatremia, Neutrophilia, Meningitis, Elbow flexion contracture, Increased circulating IgM leve... ORPHA:79139
Trichohepatoenteric Syndrome 2
Hepatomegaly, Decreased serum iron, Chronic hepatitis, Colitis, Cirrhosis OMIM:614602
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... OMIM:618022
Pseudoaminopterin Syndrome
Limited elbow movement, Sagittal craniosynostosis, Asplenia, Cryptorchidism, Patchy reduction of ... ORPHA:221120
Deeah Syndrome
Decreased hemoglobin concentration, Hepatomegaly, Decreased response to growth hormone stimulatio... OMIM:619004
Primary Fanconi Renotubular Syndrome
Hypouricemia, Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, ... ORPHA:3337
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... ORPHA:65681
Kabuki Syndrome 2
Highly arched eyebrow, Hirsutism, Long eyelashes, Neonatal hypoglycemia, Sparse lateral eyebrow OMIM:300867
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc... ORPHA:555905
Alagille Syndrome 1
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic failure, Prolonged neonatal jaundice... OMIM:118450
Cerebral Visual Impairment
Unusual CNS infection, Meningitis, Infectious encephalitis, Neonatal hypoglycemia ORPHA:447788
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:142900
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem... OMIM:608885
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... OMIM:169550
Leprosy
Abnormality of the spleen, Testicular mass, Penetrating foot ulcers, Uveitis, Abnormality of the ... ORPHA:548
Myelofibrosis
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura OMIM:254450
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Pustule, Increased circulating IgE level, Perioral erythema, Erythroderma, Ble... OMIM:614328
Lassa Fever
Jaundice, Sepsis, Oliguria, Increased circulating IgM level, Conjunctivitis ORPHA:99824
Dyskeratosis Congenita, Digenic
Recurrent infections, Decreased circulating total IgM, Decreased circulating IgG level, Decreased... OMIM:620040
Lowe Oculocerebrorenal Syndrome
Osteomalacia, Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-f... OMIM:309000
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Skin ulcer, Lymphadenopathy ORPHA:424016
Subcorneal Pustular Dermatosis
Hyperthyroidism, Pustule, Erythema, Increased circulating antibody level, Rheumatoid arthritis, H... ORPHA:48377
Reynolds Syndrome
Calcinosis, Hepatomegaly, Erythema nodosum, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasi... OMIM:613471
Pancreatoblastoma
Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph nod... ORPHA:677
Focal Dermal Hypoplasia
Omphalocele, Finger syndactyly, Inguinal hernia, Toe syndactyly, Abnormal dental enamel morpholog... ORPHA:2092
Viss Syndrome
Contracture of the proximal interphalangeal joint of the 2nd toe, Chronic gastritis, Inguinal her... OMIM:619472
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Leptospirosis
Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, Hepatitis, Uveitis, Lymp... ORPHA:509
Wars2-Related Combined Oxidative Phosphorylation Defect
Abnormal circulating enzyme concentration or activity, Neonatal hypoglycemia ORPHA:572798
Rett Syndrome
Increased serum pyruvate, Hyperammonemia, Cholecystitis, Increased serum leptin ORPHA:778
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Atopic dermatitis, Increased circulating IgE level, Scaling skin ORPHA:90368
Glutaryl-Coa Dehydrogenase Deficiency
Abnormal circulating enzyme concentration or activity, Fasting hypoglycemia ORPHA:25
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... OMIM:615508
Hyperkeratosis Lenticularis Perstans
Skin ulcer ORPHA:409
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Hypermanganesemia With Dystonia 1
Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Paroxysmal Nocturnal Hemoglobinuria
Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti... ORPHA:447
Scleromyxedema
Abnormality of thyroid physiology, Paraproteinemia, Abnormality of the kidney, Elevated circulati... ORPHA:167635
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hyperglycemia ORPHA:90065
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Abnormality of T cell physiology, Pso... ORPHA:2237
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... ORPHA:586
Infantile Nephropathic Cystinosis
Rickets ORPHA:411629
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor OMIM:611804
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Aplastic clavicle, Short middle phalanx of the 2nd finger, Hip dislocation,... OMIM:119600
Histiocytoid Cardiomyopathy
Hepatomegaly, Hypoglycemia, Cardiomegaly, Renal cyst, Pallor ORPHA:137675
Hurler Syndrome
Recurrent respiratory infections, Inguinal hernia, Hypoplasia of the femoral head, Coxa valga, Me... OMIM:607014
Acute Liver Failure
Hypoglycemia, Skin rash, Jaundice, Hepatitis, Hyperammonemia, Hepatocellular necrosis, Hepatic ne... ORPHA:90062
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... OMIM:147750
Adult Polyglucosan Body Disease
Neurogenic bladder, Urinary bladder sphincter dysfunction, Urinary incontinence, Skin ulcer ORPHA:206583
Lichen Planopilaris
Hepatitis, Skin ulcer ORPHA:525
Myeloma, Multiple
Paraproteinemia OMIM:254500
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Hepatoblastoma, Neonatal hypoglycemia, Card... OMIM:130650
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Sinusitis, Pneumonia, Pustule, Skin ulcer, Intrarenal abscess, Abnormalit... ORPHA:68
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Skin ulcer, Purpura ORPHA:743
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint contracture, Glycosur... ORPHA:99885
Progeroid Short Stature With Pigmented Nevi
Diabetes mellitus, Hypospadias, Lack of facial subcutaneous fat, Impaired T cell function, Allerg... OMIM:176690
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... OMIM:615607
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Hypoglycemia OMIM:614501
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipoatrophy, Small for gestational age... OMIM:264090
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Erythroderma ORPHA:312
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic... OMIM:614377
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Decreased response to growth hormone st... ORPHA:3464
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Failure to thrive, Hypertriglyceridemia, Lipoatrophy, Campto... ORPHA:3455
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Orotic Aciduria
Orotic acid crystalluria, Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblast... OMIM:258900
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ... OMIM:619534
Bent Bone Dysplasia Syndrome 1
Bent long bone, Hypoplastic pubic bone, Short clavicles, Brachydactyly OMIM:614592
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Metaphyseal widening, Flexion contracture, Abnormal finger morpholog... ORPHA:536471
Brooke-Spiegler Syndrome
Skin ulcer ORPHA:79493
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Po... OMIM:616959
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Cryptorchidism, Osteoporosis, Rickets ORPHA:2636
Yellow Fever
Renal insufficiency, Anuria, Increased circulating interleukin 6 concentration, Elevated circulat... ORPHA:99829
Immunoglobulin A Vasculitis
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Pustule, Orchitis, Ery... ORPHA:761
Hypoplasminogenemia
Cervicitis, Decreased level of plasminogen, Abnormality of the ovary, Abnormal fallopian tube mor... ORPHA:722
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Keratitis, Uveitis, Skin ulcer, Granulomatosis, Conjunctivitis, Chronic ... OMIM:608710
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Defective production of NFKB1-depen... OMIM:612132
Encephalitis Lethargica
Increased circulating antibody level, Urinary incontinence, Recurrent viral infections ORPHA:83600
Van Maldergem Syndrome 2
Inguinal hernia, Short fourth metatarsal, Cryptorchidism, Wide anterior fontanel, Cutaneous synda... OMIM:615546
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Skin ulcer, Panniculitis, Scaling skin, Cellulitis, Leukemia, Dry skin, Erysipelas ORPHA:2526
Crane-Heise Syndrome
Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Cryptorchidism, Short... ORPHA:1512
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Dys... ORPHA:95455
Prader-Willi Syndrome
Recurrent respiratory infections, Hypogonadotropic hypogonadism, Decreased response to growth hor... OMIM:176270
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... OMIM:614098
Parietal Foramina With Cleidocranial Dysplasia
Short clavicles OMIM:168550
Sweeney-Cox Syndrome
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Bilateral cryptorchidism, Wide anterior f... OMIM:617746
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Myocarditis, Eryt... ORPHA:221
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Ketonuria, Hypospadias, Hypoglycemia, Microvesicular hepatic steatosis, Hyperamm... OMIM:220111
Ivic Syndrome
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... ORPHA:2307
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Acral ulceration, Osteomyelitis, Urinary incontinence OMIM:613115
Hereditary Acrokeratotic Poikiloderma
Camptodactyly of finger, Eczema, Abnormal preputium morphology, Abnormality of the urethra, Pustu... ORPHA:2907
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia OMIM:615710
Atelis Syndrome 2
Thrombocytopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemi... OMIM:620185
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Familial Multiple Nevi Flammei
Skin ulcer ORPHA:624
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections, Pneumonia ORPHA:99104
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Osteomyelitis, Skin ulcer OMIM:613640
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Ectodermal Dysplasia-Blindness Syndrome
Recurrent respiratory infections, Keratoconjunctivitis sicca, Skin ulcer ORPHA:1806
Restrictive Dermopathy 2
Overtubulated long bones, Short clavicles OMIM:619793
Van Maldergem Syndrome 1
Short fourth metatarsal, Wide anterior fontanel, Cutaneous finger syndactyly, Short clavicles, Ca... OMIM:601390
Acrodermatitis Enteropathica
Pustule, Erythema, Cheilitis, Skin ulcer, Conjunctivitis, Dry skin, Blepharitis ORPHA:37
3-Methylglutaconic Aciduria, Type Viii
Jaundice, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Neutropenia, Neonatal death, Ne... OMIM:617248
Chronic Graft Versus Host Disease
Fasciitis, Pancytopenia, Phimosis, Urinary bladder inflammation, Flexion contracture, Erythema, B... ORPHA:99921
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Short 4th metacarpal, Short clavicles OMIM:606220
Sifrim-Hitz-Weiss Syndrome
Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Flat acetabular roof, Short clavic... OMIM:617159
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Bowing of the long bones, Aplastic clavicle, Flared metaphysis, Short ribs, Abn... ORPHA:50945
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Abnormal rib morphology, Bifid femur, Aplasia/hypoplasia of the ... ORPHA:2769
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Recurrent respiratory infections, Eczema, Keratitis, Cheilitis, Uveitis, Recurrent ... ORPHA:2273
Sotos Syndrome
Ureteral duplication, Flexion contracture, Vesicoureteral reflux, Chronic otitis media, Hypothyro... ORPHA:821
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Foot osteomyelitis, Osteomyelitis, Acral ulceration OMIM:162400
Enlarged Parietal Foramina
Broad thumb, Short clavicles ORPHA:60015
Velocardiofacial Syndrome
Hypoparathyroidism, Inguinal hernia, Impaired T cell function, Cryptorchidism, Recurrent infectio... OMIM:192430
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia, Congenital hypothyroidism OMIM:271510
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Hypogonadism, Vaginal atresia, Micropenis, Decreased testicular size OMIM:209900
9Q31.1Q31.3 Microdeletion Syndrome
Small hand, Short clavicles, Tapered finger ORPHA:401923
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Osteomyelitis, Skin ulcer ORPHA:2218
Thrombocytopenia 1
Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet... OMIM:313900
Attenuated Chédiak-Higashi Syndrome
Recurrent respiratory infections, Skin ulcer ORPHA:352723
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Inguinal hernia, Femoral hernia, Abnormal dental enamel morphology, Aplastic c... ORPHA:2658
Combined Deficiency Of Factor V And Factor Viii
Hyperlipidemia, Hyperuricemia ORPHA:35909
Okur-Chung Neurodevelopmental Syndrome
Inguinal hernia, Decreased circulating antibody level, Umbilical hernia, Decreased circulating Ig... OMIM:617062
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese... ORPHA:79102
Floating-Harbor Syndrome
11 pairs of ribs, Inguinal hernia, Ivory epiphyses of the distal phalanges of the hand, Brachydac... OMIM:136140
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate... OMIM:606002
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, Cryptorchidism, Patellar aplasia, Abnormal rib morpho... ORPHA:2554
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Femur fracture, Short clavicles OMIM:619322
Pmm2-Cdg
Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concentration, Hypo... ORPHA:79318
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections, Pneumonia ORPHA:99103
Glycogen Storage Disease Of Heart, Lethal Congenital
Neonatal hypoglycemia, Ascites, Enlarged kidney, Cardiomegaly OMIM:261740
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Uterine prolapse, Decreased serum iron, Abnormality of the endocrine system, Precocious puberty, ... ORPHA:438213
Johanson-Blizzard Syndrome
Hepatomegaly, Diabetes mellitus, Hypospadias, Urethrovaginal fistula, Increased VLDL cholesterol ... OMIM:243800
Restrictive Dermopathy 1
Limb joint contracture, Rocker bottom foot, Wide anterior fontanel, Flexion contracture, Stillbir... OMIM:275210
Heart Defects, Congenital, And Other Congenital Anomalies
Inguinal hernia, Diabetes mellitus, Congenital diaphragmatic hernia, Aplasia of the left hemidiap... OMIM:600001
Microgastria-Limb Reduction Defect Syndrome
Abnormal morphology of the radius, Aplastic clavicle, Hiatus hernia, Abnormality of the humerus, ... ORPHA:2538
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Elevated hepatic transaminase, Hyperlipidemia, Hyperkalemia, Obesity, Hyperglycemia ORPHA:293987
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Congenital diaphragmatic hernia, Preaxial polydactyly, ... OMIM:616546
Ulnar-Mammary Syndrome
Deformed radius, Hypoplasia of the ulna, Inguinal hernia, Short humerus, Aplasia of the 5th metac... OMIM:181450
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Long toe, Bowing of the long bones, Arachnodactyly, Phalangeal dislocation, Coxa valga, Flexion c... OMIM:130070
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Sparse eyebrow, Neonatal hypoglycemia, Broad eyebrow ORPHA:457359
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Elevated circulating aspartate aminotransferase co... ORPHA:466677
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal c... OMIM:620306
Slc39A8-Cdg
Abnormal blood zinc concentration, Elbow flexion contracture, Knee flexion contracture, Recurrent... ORPHA:468699
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Foot osteomyelitis, Hypotriglyceridemia, Decreased circulating apolipoprotein B concentration, Ac... OMIM:256840
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Wide anterior fontanel, Tarsal synostosis, Abnormal dental enamel morphology, Aplastic clavicle ORPHA:85199
Pycnodysostosis
Narrow iliac wing, Osteolytic defects of the distal phalanges of the hand, Aplastic clavicle, Bra... OMIM:265800
Neuropathy, Hereditary Sensory And Autonomic, Type V
Osteomyelitis, Urinary incontinence, Osteoarthritis, Acral ulceration, Septic arthritis OMIM:608654
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration ORPHA:521411
Occipital Horn Syndrome
Short humerus, Pelvic bone exostoses, Hiatus hernia, Coxa valga, Capitate-hamate fusion, Genu val... OMIM:304150
Trichinellosis
Skin rash, Meningitis, Increased circulating IgE level, Conjunctivitis ORPHA:863
Cdags Syndrome
Short ribs, Short clavicles OMIM:603116
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Camptodactyly of finger, Eczema, Erythema nodosum, Uveiti... OMIM:186580
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short long bone, Short ... OMIM:617088
Chilton-Okur-Chung Neurodevelopmental Syndrome
Recurrent urinary tract infections, Short fifth metatarsal, Short fourth metatarsal, Aplasia of t... OMIM:619841
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Bilateral renal dysplasia, Unilateral renal agenesis, Secretory IgA deficienc... ORPHA:500150
Adult Syndrome
Dry skin, Skin ulcer ORPHA:978
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Osteomyelitis, Acral ulceration, Corneal scarring OMIM:256800
Holoprosencephaly 1
Hypoglycemia OMIM:236100
Generalized Arterial Calcification Of Infancy
Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Osteomalacia, Fused cervica... ORPHA:51608
Yunis-Varon Syndrome
Congenital hip dislocation, Short metatarsal, Absent hallux, Aplastic clavicle, Tapered finger, A... OMIM:216340
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hyperglycemia, Obesity ORPHA:444077
Charcot-Marie-Tooth Disease Type 4B2
Penetrating foot ulcers ORPHA:99956
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... ORPHA:573278
Familial Keratoacanthoma
Skin ulcer ORPHA:493
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Acral ulceration OMIM:201300
Floating-Harbor Syndrome
11 pairs of ribs, Short metacarpal, Brachydactyly, Avascular necrosis of the capital femoral epip... ORPHA:2044
Woodhouse-Sakati Syndrome
Hyperlipidemia, Diabetes mellitus OMIM:241080
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Enamel hypoplasia, Skin ulcer, Amelogenesis imperfecta OMIM:245660
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Recurrent Staphylococcus aureus infections, Septic arthritis, Recurrent... ORPHA:642
Microphthalmia, Syndromic 1
Prominent fingertip pads, Syndactyly, Down-sloping shoulders, Cryptorchidism, Short clavicles, Ra... OMIM:309800
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665

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 Cebpb

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 Cebpb.

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

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