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Gene: Il1r1 MGI:96545

Gene Summary

Name:

interleukin 1 receptor, type I

Synonyms:

Il1r-1, IL-1 receptor alpha chain, IL-1R1, CD121a, IL-iR

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged kidney	Il1r1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal heart morphology	Il1r1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased circulating sodium level	Il1r1^{em1(IMPC)Ccpcz}	HOM	Early adult	2.48×10^-21
abnormal kidney morphology	Il1r1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal spleen morphology	Il1r1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased circulating chloride level	Il1r1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.52×10^-10
enlarged heart	Il1r1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged spleen	Il1r1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal freezing behavior	Il1r1^{em1(IMPC)Ccpcz}	HOM	Early adult	2.97×10^-06

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Human diseases caused by Il1r1 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.

Human diseases associated with Il1r1 (1 diseases)
Human diseases predicted to be associated with Il1r1 (2005 diseases)

The table below shows human diseases associated to Il1r1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Chronic Recurrent Multifocal Osteomyelitis 3		Palmoplantar pustulosis, Osteomyelitis, Bone pain	OMIM:259680

The table below shows human diseases predicted to be associated to Il1r1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 27B	Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio...	OMIM:615978
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Autoimmune Disease	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec...	ORPHA:319552
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia	OMIM:615615
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco...	OMIM:615897
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl...	OMIM:614372
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Medial Condensing Osteitis Of The Clavicle	Limited shoulder movement, Elevated circulating C-reactive protein concentration, Patchy reductio...	ORPHA:57196
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in...	OMIM:613495
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity	OMIM:169610
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
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency	Fever, Recurrent bacterial skin infections	ORPHA:183713
Immunodeficiency 50	Lymphopenia, Neutropenia, Decreased circulating antibody level	OMIM:300988
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,...	OMIM:308220
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent bacterial ...	OMIM:608184
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Chronic Recurrent Multifocal Osteomyelitis 3	Palmoplantar pustulosis, Osteomyelitis, Bone pain	OMIM:259680
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ...	OMIM:613953
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Gnathodiaphyseal Dysplasia	Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures	OMIM:166260
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Micrognathia,...	OMIM:618282
Immunodeficiency 35	Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,...	OMIM:611521
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis, Ging...	OMIM:228600
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ...	OMIM:619924
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil...	OMIM:619902
Intermediate Osteopetrosis	Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o...	ORPHA:210110
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Immunodeficiency 33	Delayed eruption of teeth, Conical tooth, Increased circulating IgA level, Decreased circulating ...	OMIM:300636
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Gorham-Stout Disease	Osteopenia, Abnormality of the temporomandibular joint, Osteomyelitis, Osteolysis involving bones...	ORPHA:73
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Familial Expansile Osteolysis	Bone pain, Osteolysis, Pathologic fracture, Premature loss of teeth, Thin bony cortex, Fragile teeth	OMIM:174810
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis	OMIM:235900
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec...	OMIM:613502
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Fanconi-Like Syndrome	Recurrent lower respiratory tract infections, Osteomyelitis	OMIM:227850
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l...	OMIM:618987
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ...	OMIM:605258
Hyperinsulinism Due To Hnf1A Deficiency	Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Reactive hypoglycemia, Hypogl...	ORPHA:324575
Paget Disease Of Bone 4	Bone pain, Osteolysis	OMIM:606263
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Neutropenia	OMIM:616022
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le...	OMIM:615513
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Polyphagia, Hypertensi...	ORPHA:71529
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level	OMIM:609529
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ...	OMIM:618459
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
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
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Multiple Symmetric Lipomatosis	Hepatomegaly, Joint stiffness, Insulin resistance, Multiple lipomas, Abnormal adipose tissue morp...	ORPHA:2398
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Excessive insulin response to glucagon test, Maternal diabetes, Large ...	ORPHA:276580
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Autoimmunity, Reactive hypoglycemia, Insulin resis...	ORPHA:411593
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia	OMIM:300299
Neutropenia, Chronic Familial	Periodontitis, Neutropenia	OMIM:162700
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor...	OMIM:615382
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio...	OMIM:613860
Xanthoma Disseminatum	Abnormal lip morphology, Osteolysis	ORPHA:158003
Hashimoto Thyroiditis	Autoimmune antibody positivity, Hashimoto thyroiditis	OMIM:140300
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Dilated cardiomyopathy, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypo...	OMIM:620152
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Excessive insulin response to glucagon test, Large for gestational age...	ORPHA:276575
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Ethanolaminosis	Cardiomegaly	OMIM:227150
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Osteomyelitis, Elevated circulating C-reactive prot...	OMIM:116920
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy	Osteomyelitis	OMIM:239840
Whim Syndrome 2	Chronic neutropenia	OMIM:619407
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati...	OMIM:613500
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections...	OMIM:613493
Osteoarthritis Susceptibility 3	Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c...	OMIM:607850
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Osteolysis, Abnormality of the dentition	ORPHA:2776
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71526
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ...	OMIM:608106
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Neuropathy, Hereditary Sensory, Type If	Osteomyelitis, Osteolytic defects of the phalanges of the hand	OMIM:615632
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn...	OMIM:617585
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Abnormality of the dentition, Mandibular osteomyelitis, Gener...	ORPHA:53
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,...	OMIM:300400
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis	OMIM:260570
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:617765
Complement Component 3 Deficiency, Autosomal Recessive	Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent tonsillitis, Recurrent b...	OMIM:613779
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati...	ORPHA:324964
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Systemic Lupus Erythematosus 16	Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib...	OMIM:614420
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral...	OMIM:608957
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Chondrocalcinosis 2	Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis	OMIM:118600
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Osteomyelitis, Osteolytic defects of the phalanges of the hand	OMIM:613115
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i...	ORPHA:363400
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin...	OMIM:613090
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizure...	ORPHA:276556
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233710
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Mandibul...	OMIM:259710
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Scedosporiosis	Unusual skin infection, Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, ...	ORPHA:449280
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Cernunnos-Xlf Deficiency	Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym...	ORPHA:169079
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c...	OMIM:602088
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par...	OMIM:614699
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Neutropenia	ORPHA:90023
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Central Diabetes Insipidus	Hyponatremia, Anorexia, Depression, Polydipsia, Nocturia	ORPHA:178029
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Juvenile Hyaline Fibromatosis	Progressive flexion contractures, Joint stiffness, Gingival fibromatosis, Gingival overgrowth, Os...	ORPHA:2028
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level	OMIM:616911
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Recurrent sinopulmonary infections, Skin rash, Recurrent fractures, Craniosynostosis,...	OMIM:147060
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Recurrent respiratory infections, Delayed eruption of teeth, Osteomyelitis, Skin rash...	ORPHA:2314
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:233690
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide...	OMIM:615980
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Selective Igm Deficiency	Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infecti...	ORPHA:331235
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni...	OMIM:612692
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti...	OMIM:611926
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM...	OMIM:619281
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli...	OMIM:615592
Ramon Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Osteolysis, ...	ORPHA:3019
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti...	ORPHA:275
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ...	OMIM:615703
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ...	ORPHA:47
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Truncal obesity, Insulin resistance, Delayed puberty, Decreased serum insulin-like growth factor 1	ORPHA:140941
Chondrocalcinosis 1	Osteoarthritis, Chondrocalcinosis	OMIM:600668
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Irritability, Hyposthenuria, Decreased...	OMIM:300539
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ...	OMIM:301082
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
C1Q Deficiency 2	Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Elevated circulating C-react...	OMIM:620321
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Mesangial hypercellularity, ...	ORPHA:329918
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit...	OMIM:613501
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn...	ORPHA:229717
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Periostitis, Osteomyelitis	ORPHA:2218
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu...	OMIM:619846
Immunodeficiency 21	Osteomyelitis, Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Rec...	OMIM:614172
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Gnathodiaphyseal Dysplasia	Osteopenia, Broad jaw, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones	ORPHA:53697
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Felty Syndrome	Sinusitis, Sepsis, Chronic otitis media, Hepatomegaly, Recurrent pharyngitis, Episcleritis, Recur...	ORPHA:47612
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin con...	ORPHA:100924
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Precocious puberty in femal...	ORPHA:528
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hypertension,...	ORPHA:79084
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl...	ORPHA:79239
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Progressive neurologic deterioration, Reactive hypoglycemia, Hyperinsulinemia, Incre...	ORPHA:276608
Complement Factor B Deficiency	Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Neuropathy, Hereditary Sensory, Type Id	Osteomyelitis	OMIM:613708
Immunodeficiency 70	Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Elevated circulating creatine kinase concentration, Flexion contracture, Hepatic stea...	OMIM:613327
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Sepsis, Decreased circulating antibody level, Weight...	ORPHA:33355
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, Monocyto...	OMIM:614470
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Mycetoma	Recurrent bacterial skin infections, Osteomyelitis, Bone cyst, Osteoporosis, Painless fractures d...	ORPHA:2583
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ...	OMIM:612526
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Legionnaires Disease	Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Anorexia, Splenomegaly, Jaundice, M...	ORPHA:549
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Acne, Camptodactyly of finger, Joint stiffness,...	ORPHA:137834
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Bartter Syndrome Type 4	Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili...	ORPHA:89938
Preeclampsia	Increased body mass index, Small for gestational age, Abnormality of the kidney, Proteinuria, Aut...	ORPHA:275555
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm...	ORPHA:85445
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Immunodeficiency 92	Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremia, BCGosis, Sc...	OMIM:619652
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi...	ORPHA:231154
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ...	ORPHA:169154
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Abnormal mandible morphology, Cleft palate	OMIM:217150
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein concentration, Pust...	OMIM:612852
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ...	ORPHA:183675
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density	ORPHA:970
Rosaï-Dorfman Disease	Osteolysis, Dysgammaglobulinemia	ORPHA:158014
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy...	ORPHA:329249
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae	ORPHA:50809
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent Haemophilus influenzae infections, Chronic sinusitis, Recurrent bronchitis, Otitis media	OMIM:300455
Griscelli Syndrome, Type 2	Fever, Recurrent bacterial infections, Reduced delayed hypersensitivity	OMIM:607624
Catifa Syndrome	Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp...	OMIM:618761
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Galactose Mutarotase Deficiency	Hepatomegaly, Sepsis, Cholestasis, Hypergalactosemia, Decreased liver function, Failure to thrive	ORPHA:570422
Immunodeficiency 110 With Lymphoproliferation	Recurrent skin infections, Recurrent viral infections, Recurrent upper respiratory tract infectio...	OMIM:614868
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt...	OMIM:613845
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis, Autoimmunity	OMIM:216950
Adult Acute Respiratory Distress Syndrome	Shock, Increased circulating interleukin 6 concentration, Pneumonia, Vasculitis, Sepsis, Abnormal...	ORPHA:70578
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve...	OMIM:193670
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Interictal EEG abnormality, Restlessness, Inguinal hernia, Flexion contracture, Sepsis, Hyperexte...	ORPHA:544503
Immunodeficiency 46	Intermittent thrombocytopenia, Neutropenia, Conjunctivitis, Chronic oral candidiasis, Anemia	OMIM:616740
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre...	OMIM:619510
Staphylococcal Necrotizing Pneumonia	Shock, Diabetes mellitus, Pneumonia, Elevated circulating C-reactive protein concentration, Confu...	ORPHA:36238
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat...	OMIM:618261
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Mu-Heavy Chain Disease	Increased circulating antibody level, Osteolysis, Osteoporosis	ORPHA:100024
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Cogniti...	ORPHA:369873
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612924
Paget Disease Of Bone 3	Fractures of the long bones, Bone pain, Osteolysis, Patchy osteosclerosis	OMIM:167250
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver...	OMIM:615415
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Hyperinsulinemic Hypoglycemia, Familial, 1	Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo...	OMIM:256450
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Neutropenia	OMIM:616949
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:214700
Sapho Syndrome	Psoriasiform dermatitis, Acne, Recurrent fractures, Osteomyelitis, Skin rash, Pustule, Recurrent ...	ORPHA:793
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An...	OMIM:612926
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Immunodeficiency, Common Variable, 2	Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Co...	OMIM:240500
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta	ORPHA:71267
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Short attention span, Elevated circulating thyroid-stimulating hormone concentration, Abnormal ci...	ORPHA:171706
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Delayed skeletal maturation, Flex...	OMIM:609628
Congenital Atransferrinemia	Arthritis, Anemia	ORPHA:1195
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Anti-thyroid peroxidase antibody positivity, Sepsis, Abnormal blood ion concentration, ...	ORPHA:37042
Mantle Cell Lymphoma	Splenomegaly, Anorexia, Lymphadenopathy	ORPHA:52416
Acute Lung Injury	Shock, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Elevated...	ORPHA:178320
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Partial absence ...	OMIM:618986
Neonatal Alloimmune Neutropenia	Pneumonia, Maternal diabetes, Severe infection, Jaundice, Sepsis, Neutropenia in presence of anti...	ORPHA:464370
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Osteolysis, Downturned corne...	ORPHA:2774
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co...	OMIM:603553
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Pustule, Recurrent tonsillitis, Hyperkalemia, Atopic dermatitis, Inc...	ORPHA:171876
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level,...	ORPHA:2298
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Enuresis, Irritability, Tics, ...	ORPHA:66624
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia...	ORPHA:2688
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
C1Q Deficiency 1	Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par...	OMIM:618108
Immunodeficiency, Common Variable, 1	Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec...	OMIM:607594
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Sepsis, Recurrent candida infections, Inflammation of the large intestine, De...	ORPHA:436159
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Severe varice...	ORPHA:36234
Late-Onset Isolated Acth Deficiency	Decreased circulating cortisol level, Anorexia, Sepsis, Lethargy, Hashimoto thyroiditis, Hyponatr...	ORPHA:199299
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re...	OMIM:613877
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hypodontia	ORPHA:63442
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Progressive neurologic deterioration, L...	ORPHA:263455
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis...	OMIM:614700
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Lack of T cell function, Abnormality of humoral immunity, T lymp...	ORPHA:277
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Recurrent bacterial skin infections, Recurrent herpes, Hepatomeg...	ORPHA:276
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,...	OMIM:209920
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Foot osteomyelitis, Osteomyelitis, Tongue fasciculations	OMIM:162400
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis	OMIM:609655
Complement Component C1S Deficiency	Hashimoto thyroiditis, Systemic lupus erythematosus	OMIM:613783
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Malformation of the hepatic ducta...	OMIM:208540
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia	OMIM:619175
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Hyperammonemia...	ORPHA:1667
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,...	OMIM:617006
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Immunodeficiency 84	Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia, Renal cyst, Ol...	ORPHA:97362
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Decreased circulating IgE, Decreased circulating IgG level, Meningitis, Hepatomegaly, Hep...	OMIM:308230
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Severe periodontitis, Re...	ORPHA:678
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Eczema, Abnormal immunoglobulin level, Conical tooth, Invasive fungal infection, Recu...	ORPHA:98813
Posttransplant Acute Limbic Encephalitis	Hyponatremia, Ataxia, Confusion, EEG with abnormally slow frequencies, Sepsis, EEG with focal epi...	ORPHA:163921
Proteasome-Associated Autoinflammatory Syndrome 2	Lipodystrophy, Skin rash, Elevated circulating C-reactive protein concentration, Recurrent viral ...	OMIM:618048
Laryngeal Neuroendocrine Tumor	Anorexia, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone excess, Elevated carcinoembryoni...	ORPHA:100083
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Hemophagocytic Lymphohistiocytosis, Familial, 4	Skin rash, Splenomegaly, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Hereditary Coproporphyria	Hyponatremia, Dark urine, Abnormal circulating porphyrin concentration, Porphyrinuria, Increased ...	ORPHA:79273
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Sepsis, Recurrent candida infections, Hypocalcemic tetany, Opportunistic infection, Ch...	ORPHA:83471
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta...	OMIM:617056
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoaci...	OMIM:617913
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Diabetes mellitus, Dorsocervical fat pad, Osteoporosis, Delayed thelarche, Anti-GAD...	OMIM:616033
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Bardet-Biedl Syndrome 18	Renal insufficiency, Stage 5 chronic kidney disease, Obesity	OMIM:615995
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of...	OMIM:212050
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Ankle clonus, Neutropenia, Hypoplastic anemi...	OMIM:159550
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis	OMIM:615612
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec...	OMIM:306400
Hypocalcemic Vitamin D-Resistant Rickets	Recurrent fractures, Osteomalacia, Premature loss of primary teeth, Abnormality of the dentition,...	ORPHA:93160
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Polyuria, Renal salt wasting, ...	OMIM:601678
Specific Granule Deficiency 2	Osteopenia, Recurrent pneumonia, Sepsis, Recurrent bacterial infections, Recurrent otitis media, ...	OMIM:617475
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os...	OMIM:105835
Bardet-Biedl Syndrome 14	Renal insufficiency, Obesity	OMIM:615991
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Type 2 Diabetes Mellitus	Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio	OMIM:125853
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Elevated circulating C-reactive ...	ORPHA:85435
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R...	OMIM:307200
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Hypert...	OMIM:615381
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent...	OMIM:243700
Interstitial Granulomatous Dermatitis With Arthritis	Rheumatoid arthritis, Inflammatory abnormality of the skin, Rheumatoid factor positive, Elevated ...	ORPHA:79099
Acquired Partial Lipodystrophy	Hepatic steatosis, Insulin resistance, Lipoatrophy, Autoimmunity	ORPHA:79087
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity	OMIM:613375
Slipped Femoral Capital Epiphyses	Hip osteoarthritis	OMIM:182260
Sickle Cell Anemia	Osteomyelitis, Osteoporosis, Elevated circulating creatinine concentration, Recurrent infections,...	ORPHA:232
Pgm3-Cdg	Recurrent viral infections, Sepsis, Increased circulating IgG level, High palate, Chronic otitis ...	ORPHA:443811
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia, Limite...	OMIM:616738
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Recurrent ear infections, Recurrent upper respiratory tract infections, R...	OMIM:614962
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi...	ORPHA:331206
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,...	ORPHA:730
Alg12-Cdg	Sepsis, Recurrent hypoglycemia, Hypoalbuminemia, Abnormal bone ossification, Hypocholesterolemia,...	ORPHA:79324
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Increased circulating IgG level, Increased circulatin...	OMIM:209950
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Craniosynostosis, Carious teeth, Hypocalcemia, Ost...	OMIM:259700
Obesity And Hypopigmentation	Polyphagia, Hyperinsulinemia, Obesity, Overgrowth, Hepatic steatosis	OMIM:620195
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting	OMIM:610600
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting	OMIM:203400
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:613313
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr...	OMIM:619774
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	ORPHA:79085
Lymphoproliferative Syndrome 2	Hepatomegaly, Severe varicella zoster infection, Splenomegaly, Recurrent pneumonia, Sepsis, EBV e...	OMIM:615122
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Lymphoproliferative Syndrome, X-Linked, 2	Fever, Recurrent respiratory infections, Hypertriglyceridemia, Acne, Recurrent skin infections, E...	OMIM:300635
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Di...	ORPHA:79083
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ...	ORPHA:54057
Diffuse Alveolar Hemorrhage	Antiphospholipid antibody positivity, Proteinuria, Rheumatoid factor positive, Autoimmunity, Anti...	ORPHA:90060
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Whipple Disease	Hyponatremia, Hepatomegaly, Pericarditis, Anorexia, Mediastinal lymphadenopathy, Splenomegaly, My...	ORPHA:3452
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina...	OMIM:241200
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Recu...	ORPHA:293978
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased...	OMIM:618394
Immunodeficiency 12	Skin rash, Recurrent viral infections, Delayed skeletal maturation, Osteoporosis, Bronchiectasis,...	OMIM:615468
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Confusion, Sepsis, Hypsarrhythmia, Recurrent infections, Dementia, Cognitive impairment, ...	ORPHA:204
Hemochromatosis, Type 3	Arthritis, Lymphopenia, Anemia, Neutropenia	OMIM:604250
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia	OMIM:601457
Donohue Syndrome	Postnatal growth retardation, Adipose tissue loss, Precocious puberty, Hyperinsulinemia, Cholesta...	OMIM:246200
Glutathione Synthetase Deficiency	Hemolytic anemia, Neutropenia	OMIM:266130
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Hyperinsulinemia, Obesity, Polyphagia, Tall stature	OMIM:618406
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Meningitis, Increased circulating IgE level, Unus...	ORPHA:1163
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
Endove Syndrome, Limb-Brain Type	Joint laxity, Recurrent urinary tract infections, Osteomyelitis	OMIM:619218
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Periodontitis, Reduction of neutrophil motility	OMIM:266265
Retinitis Pigmentosa	Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus	ORPHA:791
Cog4-Cdg	Neonatal sepsis, Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive...	ORPHA:263501
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease...	OMIM:300853
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, In...	OMIM:620010
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Immunodeficiency 97 With Autoinflammation	Lymphopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, E...	OMIM:619802
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia	OMIM:269840
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Short attention span, Hyperactivity, Small for gestational age, Hypoglycemia, Postnatal growth re...	ORPHA:73272
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent he...	ORPHA:572
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Multicentric Reticulohistiocytosis	Arthritis, Histiocytosis	ORPHA:139436
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Absent ci...	OMIM:620282
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Immunodeficiency 32B	Neutrophilia, Sinusitis, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, ...	OMIM:226990
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, ...	OMIM:618849
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Bardet-Biedl Syndrome 11	Obesity, Abnormality of the kidney	OMIM:615988
Hypoglycemia, Leucine-Induced	Irritability, Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia	OMIM:240800
Idiopathic Achalasia	Decreased prealbumin level, Recurrent aspiration pneumonia, Dysphagia, Weight loss	ORPHA:930
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Majeed Syndrome	Increased bone mineral density, Inflammatory abnormality of the skin, Acne, Osteomyelitis, Pustul...	ORPHA:77297
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Li...	ORPHA:2348
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Lymphopenia, Eosinophilia, Limitation of joint mobility	ORPHA:2582
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Neonatal sepsis, Hypoglycemia, Inability to walk, Hyperammonemia, Recurrent infections, Hyperalan...	OMIM:614739
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Keratoderma Hereditarium Mutilans	Osteolysis, Cleft palate	ORPHA:494
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the dentition, Keratitis, Osteoarthritis, Osteolysis, Oligodontia	ORPHA:1657
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Ankylosis, Abnormal...	ORPHA:659
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo...	OMIM:601859
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Myocarditis, Leukocytosis, Abnormal blood ion concentration, O...	ORPHA:31824
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Fractures of the long bones, Bone pain, Osteolysis, Increased susceptibility to fr...	OMIM:602080
Meckel Syndrome, Type 8	Pericardial effusion, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney	OMIM:613885
Epiphyseal Dysplasia, Multiple, 3	Abnormal hip joint morphology, Elevated circulating creatine kinase concentration, Delayed epiphy...	OMIM:600969
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy...	OMIM:606762
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Congenital Insensitivity To Pain With Severe Intellectual Disability	Keratitis, Osteomyelitis, Recurrent fractures, Micrognathia	ORPHA:453510
Immunodeficiency 7	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Hypereosinophilia, Neutropenia, Chronic ...	OMIM:615387
Alg1-Cdg	Limitation of joint mobility, Sepsis, Recurrent infections, Cardiomyopathy, Hypoalbuminemia, Decr...	ORPHA:79327
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia	OMIM:230350
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Micrognathia, Tooth agenesis, High palate...	ORPHA:2863
Neuronal Intestinal Pseudoobstruction	Natal tooth, Decreased circulating antibody level	ORPHA:99811
Combined Oxidative Phosphorylation Deficiency 53	Arthritis, Osteomyelitis, Septic arthritis, Elevated circulating C-reactive protein concentration	OMIM:619423
Snakebite Envenomation	Hyponatremia, Neuromuscular dysphagia, Pseudobulbar paralysis, Acute kidney injury, Thrombocytopenia	ORPHA:449285
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids	ORPHA:3085
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Heme Oxygenase 1 Deficiency	Hepatomegaly, Increased circulating interleukin 6 concentration, Elevated circulating aspartate a...	OMIM:614034
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion	ORPHA:181
Immunodeficiency 11B With Atopic Dermatitis	Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia	OMIM:617638
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Fasting hyperinsulinemia, EEG with generalized epileptiform discharges, As...	ORPHA:35878
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia, Renal salt wasting	OMIM:264350
Bardet-Biedl Syndrome 10	Renal insufficiency, Obesity, Renal cyst	OMIM:615987
Neuropathy, Hereditary Sensory, Type Ie	Osteomyelitis	OMIM:614116
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Hutchinson-Gilford Progeria Syndrome	Malar flattening, Osteolysis, Generalized osteoporosis, Micrognathia	OMIM:176670
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Increased intraabdominal fat, Hepatic steatosis, Hepatom...	ORPHA:280365
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, A...	OMIM:616100
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased circulating IgM level, Increased...	OMIM:616005
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Premature pubarche	OMIM:614662
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Failure to thrive, Decreased circulating IgA level, Decreased circulating antibody level, Decreas...	OMIM:617744
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	OMIM:615238
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio...	ORPHA:247353
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus, Autoimmunity	OMIM:612227
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Pneumonia, Recurrent skin infe...	ORPHA:486
Perlman Syndrome	Hepatomegaly, Inguinal hernia, Femoral hernia, Hyperinsulinemia, Abnormal pancreas morphology, Ta...	ORPHA:2849
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Cerebrooculofacioskeletal Syndrome 1	Small for gestational age, Progressive neurologic deterioration, Insulin resistance, Flexion cont...	OMIM:214150
Bloom Syndrome	Recurrent herpes, Adipose tissue loss, Severe varicella zoster infection, Uveitis, Otitis media, ...	ORPHA:125
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi...	OMIM:619220
Mucopolysaccharidosis-Plus Syndrome	Recurrent respiratory infections, Hepatomegaly, Recurrent bronchopulmonary infections, Inability ...	OMIM:617303
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow	OMIM:618506
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Desmoid Tumor	Sepsis, Limitation of joint mobility, Osteolysis	ORPHA:873
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hypoglycemia, Hyperinsulinemia	OMIM:606528
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem...	OMIM:610984
Ollier Disease	Bone pain, Osteolysis, Joint stiffness	ORPHA:296
Meningococcal Meningitis	Shock, Stiff neck, Skin rash, Elevated circulating C-reactive protein concentration, Anorexia, Se...	ORPHA:33475
Neuropathy, Hereditary Sensory And Autonomic, Type V	Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury, Septic arth...	OMIM:608654
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ...	OMIM:151660
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea...	OMIM:152700
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Sepsis, Hyperammonemia, Choreoathetosis, Lethargy, Pancreatitis	ORPHA:289916
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Autoimmunity, Insulin resistance, Insulin...	ORPHA:79086
Huntington Disease	Oral-pharyngeal dysphagia, Compulsive behaviors, Decreased body mass index, Depression, Gait dist...	ORPHA:399
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Knee flexio...	OMIM:604416
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Fusariosis	Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,...	ORPHA:228119
Pulmonary Blastoma	Recurrent pneumonia, Weight loss	ORPHA:64741
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Skin rash, Pneumonia, Progressive neurologic deterioration, Nodular ...	ORPHA:247691
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Rheumatoid factor positive, Elevated circulating C-reactive protein concentrat...	ORPHA:49041
Secondary Short Bowel Syndrome	Low plasma citrulline, Sepsis, Abnormal blood ion concentration, Weight loss, Enterocolitis, Cent...	ORPHA:95427
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Elevated circulating cr...	OMIM:608836
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Renal sodium wasting, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Shigellosis	Hyponatremia, Anorexia, Hemolytic-uremic syndrome, Myocarditis, Leukocytosis, Peritonitis, Urethr...	ORPHA:810
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce...	OMIM:276700
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophago...	OMIM:301078
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice	ORPHA:199296
Galactokinase Deficiency	Psychomotor deterioration, Hepatomegaly, Small for gestational age, Hypoglycemia, Hypergonadotrop...	ORPHA:79237
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Hepatitis, Erythroderma, A...	OMIM:304790
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia, Anemia	OMIM:614450
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Flexion contracture, Hyperglycemia, Calcinosis, Hepatomegaly, Lipodystrophy, Insulin-...	OMIM:248370
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Secundum atrial septal defect, Elevated urinary 5-amino-4-imidazolecarboxamide-ribo...	OMIM:608688
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Bullous Impetigo	Pustule, Recurrent bacterial skin infections, Sepsis, Septic arthritis	ORPHA:36237
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Juvenile Nephropathic Cystinosis	Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C...	ORPHA:411634
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Increased pineal volume, Enlarged ovaries, Impaired glucose ...	ORPHA:769
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Failure t...	OMIM:606367
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Alstrom Syndrome	Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h...	OMIM:203800
Immunodeficiency 31C	Osteopenia, Recurrent respiratory infections, Osteomyelitis, Eczema, Coccidioidomycosis, Bronchie...	OMIM:614162
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Hypodontia	ORPHA:1816
Immunodeficiency 76	Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Pneumonia, Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infect...	ORPHA:169090
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H...	OMIM:619736
Kimura Disease	Increased circulating IgE level, Eosinophilia	ORPHA:482
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Incr...	ORPHA:251004
Gamma-Heavy Chain Disease	Recurrent respiratory infections, Skin rash, Osteolysis, Rheumatoid arthritis, Neoplasm of the to...	ORPHA:100026
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Short attention span, Diabetes mellitus, Recurrent skin infections, Decreased serum iron, Overwei...	ORPHA:391372
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polyuria, Megacystis, Irritability, Polydipsia, Hypernatremia	OMIM:125800
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ...	ORPHA:1930
Vascular Malformation, Primary Intraosseous	Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia	OMIM:606893
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polyuria, Megacystis, Irritability, Polydipsia, Hypernatremia	OMIM:304800
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Renal sodium wasting, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Necrotizing Enterocolitis	Hyponatremia, Leukocytosis, Peritonitis, Abnormal heart morphology, Neutropenia, Ascites, Thrombo...	ORPHA:391673
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hepatic steatosis, Acute pancreatitis, Hypertriglyceridemia,...	OMIM:269700
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased ly...	ORPHA:169160
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hepatic steatosis, Acute pancreatitis, Hypertriglyceridemia,...	OMIM:608594
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Inguinal h...	OMIM:612541
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,...	OMIM:619752
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Acroosteolysi...	OMIM:608612
Slc35A1-Cdg	Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia	ORPHA:238459
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Diabetes mellitus, Small for gestational age, Increased circulating free T4 concentration, Anti-t...	OMIM:274300
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri...	OMIM:219800
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene...	OMIM:613849
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypoglycemia, Hypergonadotropic hypogonadism, A...	OMIM:617053
Netherton Syndrome	Recurrent respiratory infections, Failure to thrive, Recurrent skin infections, Eczema, Allergic ...	OMIM:256500
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular carcinoma, Decreased glomerular fi...	OMIM:232220
Cholera	Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Irritability, Hyp...	ORPHA:173
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co...	OMIM:208250
Pachydermoperiostosis	Osteomyelitis, Acne, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Bone pain...	ORPHA:2796
Hereditary Sensory And Autonomic Neuropathy Type 1	Limb pain, Osteomyelitis, Pathologic fracture	ORPHA:36386
Infantile Myofibromatosis	Hypercalcemia, Bone cyst, Limitation of joint mobility, Gingival fibromatosis, Osteolysis	ORPHA:2591
Idiopathic Aplastic Anemia	Pancytopenia, Autoimmune antibody positivity, Reticulocytopenia, Anemia, Neutropenia, Thrombocyto...	ORPHA:88
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality of the lymphatic system, Hepato...	ORPHA:464329
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin...	ORPHA:90038
Osteosarcoma	Pathologic fracture, Osteolysis	ORPHA:668
Hirschsprung Disease	Neoplasm of the thyroid gland, Failure to thrive in infancy, Sepsis, Weight loss	ORPHA:388
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia, Renal salt wasting	OMIM:614736
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating creatine kinase concentration, Osteolysis, Increased susceptibility to fract...	ORPHA:52430
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr...	ORPHA:85410
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr...	OMIM:618982
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia, Depression	ORPHA:83601
Immunodeficiency 67	Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf...	OMIM:607676
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Hip dislocation, Sepsis, Pulmonary arterial hypertension, Hyperglycinemia, Hyperalaninemia	OMIM:619059
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E...	OMIM:619658
Acquired Purpura Fulminans	Shock, Skin rash, Elevated circulating C-reactive protein concentration, Sepsis, Intracranial hem...	ORPHA:49566
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Failure to thrive, Elevated circulating creatinine concentration, Increased blood u...	OMIM:617872
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Dental crowding, Limited elbow movement, Joint stiffness, Micrognathia, Flexio...	OMIM:614008
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ...	OMIM:269920
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Pericardial effusion, Hypoalbuminemia, Hypocalcemia...	OMIM:618183
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Joint stiffness, Flexi...	ORPHA:1979
Porphyria Variegata	Hyponatremia, Neurogenic bladder, Abnormal circulating porphyrin concentration, Chronic kidney di...	ORPHA:79473
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Short Stature, Dauber-Argente Type	Osteopenia, Postnatal growth retardation, Fasting hyperinsulinemia, Reduced bone mineral density,...	OMIM:619489
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Coronary Artery Disease, Autosomal Dominant, 1	Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Hypercholesterolemia	OMIM:608320
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Dilated cardiomyopathy,...	OMIM:602390
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Increased su...	ORPHA:371428
Tenosynovial Giant Cell Tumor	Limitation of joint mobility, Localized osteoporosis, Osteolysis, Joint stiffness	ORPHA:66627
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Cardiomegaly, Stiff interphalangeal joints, Hyperglycemia, Lethargy, Hypothyroidism,...	ORPHA:465508
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis	OMIM:609536
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas...	OMIM:614069
Immunodeficiency 43	Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin...	OMIM:241600
Omenn Syndrome	Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Sepsis, Thyroiditis, Erythroderma, Failure t...	ORPHA:39041
Neuroleptic Malignant Syndrome	Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen...	ORPHA:94093
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Gingivitis...	ORPHA:2968
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Fasting hyperinsulinemia, Hypoglycemic seizures, Hepatic necrosis, Letharg...	ORPHA:71212
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, Pneumonia, Splenomegaly, Recurrent upper respiratory tract i...	OMIM:602450
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, Splenomegaly, Macroglossia, Thick vermilion border, H...	OMIM:616354
Immunodeficiency 104	Splenomegaly, T lymphocytopenia	OMIM:608971
Acute Intermittent Porphyria	Hyponatremia, Dark urine, Renal insufficiency, Restlessness, Urinary incontinence, Dysuria, Porph...	ORPHA:79276
Macrophage Activation Syndrome	Increased inflammatory response, Autoimmunity, Splenomegaly, Hepatitis, Systemic lupus erythemato...	ORPHA:158061
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Aggr...	OMIM:252920
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma	ORPHA:882
Chromomycosis	Keratitis, Ankylosis, Osteolysis, Recurrent bacterial infections, Keratoconjunctivitis sicca, Abn...	ORPHA:182
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Simpson-Golabi-Behmel Syndrome, Type 2	Recurrent respiratory infections, Inguinal hernia, Recurrent upper respiratory tract infections, ...	OMIM:300209
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Reactive Arthritis	Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Joint stiffness, Pustule, Enthes...	ORPHA:29207
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia	ORPHA:172
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis...	ORPHA:79319
Sepsis In Premature Infants	Neonatal sepsis, Hepatomegaly, Increased circulating interleukin 6 concentration, Cyanosis, Small...	ORPHA:90051
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Splenomegaly, Irritability, Reduced haptoglobin level	OMIM:612126
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased body weight, Glucose intolerance, Hepatic steatosis, Acne, Osteoporosis, Increased susc...	ORPHA:189427
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Melioidosis	Foot osteomyelitis, Brain abscess, Unusual skin infection, Pneumonia, Osteoarthritis, Hepatitis, ...	ORPHA:31202
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased circulating IgG...	OMIM:620210
Immunodeficiency 66	Recurrent skin infections, Pustule, Meningitis, Sepsis	OMIM:618847
Congenital Enterovirus Infection	Skin rash, Fetal ascites, Myocarditis, Sepsis, Hyperammonemia, Hepatitis, Cholestasis, Irritabili...	ORPHA:292
Shwachman-Diamond Syndrome	Osteopenia, Sinusitis, Decreased response to growth hormone stimulation test, Recurrent viral inf...	ORPHA:811
Fibrous Dysplasia Of Bone	Thin bony cortex, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bones, Abnormal zygomatic...	ORPHA:249
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Sepsis, Nephritis, Infectious encephalitis, Brai...	ORPHA:2552
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Long philtrum	OMIM:618825
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Foot osteomyelitis	OMIM:600882
Classic Hodgkin Lymphoma	Skin rash, Bone pain, Osteolysis	ORPHA:391
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno...	OMIM:308240
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Postinfectious Vasculitis	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Anorexia, Seve...	ORPHA:48435
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ...	ORPHA:884
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis	OMIM:619693
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Perianal abscess, Severe infection, Recurrent tonsillitis, ...	ORPHA:2686
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os...	OMIM:112250
Calciphylaxis	Sepsis, Hyperphosphatemia, Secondary hyperparathyroidism, Cellulitis, Ectopic ossification	ORPHA:280062
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Overlap Myositis	Elevated hepatic transaminase, Subluxation of the small joints of the hand, Diabetes mellitus, El...	ORPHA:206572
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Elevated circulating C-reactive protein concentration, Recurrent viral infect...	OMIM:619573
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Hypodontia	OMIM:616029
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Oral ulcer, Colitis, Hypoalbuminemia, Recu...	OMIM:619381
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious teeth...	ORPHA:10
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth	OMIM:619356
Short Syndrome	Joint laxity, Inguinal hernia, Lipoatrophy, Small for gestational age, Lipodystrophy, Insulin res...	OMIM:269880
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert...	OMIM:620135
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Avian Influenza	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:454836
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Pycnodysostosis	Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna...	OMIM:265800
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bladder, Enuresis noctu...	ORPHA:223
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent...	OMIM:616860
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Osteomyelitis	OMIM:613640
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Osteoarthritis, Delayed skeletal maturation, Bone pai...	ORPHA:77259
Kid Syndrome	Angular cheilitis, Scarring alopecia of scalp, Posterior blepharitis, Sepsis, Recurrent cutaneous...	ORPHA:477
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Lymphadeni...	ORPHA:911
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp...	ORPHA:79233
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Sepsis, Abnormal left ventricular function,...	OMIM:619991
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Depression, Increased urinary porphobilinogen, Elevated uri...	OMIM:121300
Hyperkalemic Periodic Paralysis	Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:682
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo...	OMIM:603909
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Delayed closure of the anterior fontanelle, Sepsis, Hyperbilirubin...	OMIM:614886
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Anorexia, Renal salt wasting, Hyperkalemia, Hyp...	ORPHA:361
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec...	OMIM:314390
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Joint stiffness, Inabilit...	ORPHA:505248
Werner Syndrome	Increased bone mineral density, Lipoatrophy, Lipodystrophy, Myocardial infarction, Joint stiffnes...	ORPHA:902
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie...	OMIM:601495
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Neutropenia	OMIM:618752
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Micrognathia, Abnormality of the dentition, Hyperlipidemia, Osteolysis, Osteolytic de...	ORPHA:90154
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Thick lower lip vermilion, Cleft palate, Wide mouth, Macroglossia, Thi...	OMIM:614607
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia	OMIM:612463
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Diabetes mellitus, Ataxia, Broad-based gait, Insulin resistance, Dilated cardiom...	OMIM:616541
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over...	ORPHA:420561
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive	Recurrent upper respiratory tract infections, Sepsis	OMIM:619599
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Recurrent skin infections, Epistaxis, Splenomegaly, Sepsis, Hepatosplenomegaly, Rec...	OMIM:612840
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Obesity, Renal cyst, Renal d...	OMIM:615993
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo...	OMIM:608978
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Abnormal urine sebacic acid concentration, Hyp...	OMIM:615751
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip vermilion, Overjet, ...	OMIM:618342
Senior-Loken Syndrome 1	Renal insufficiency, Thickening of the tubular basement membrane, Polyuria, Impaired renal concen...	OMIM:266900
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia	ORPHA:91354
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth	OMIM:619797
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom...	ORPHA:444463
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t...	ORPHA:79644
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Autoimmunity, Elevated circulating creat...	ORPHA:732
Maffucci Syndrome	Osteolysis, Bone pain, Recurrent fractures	ORPHA:163634
Agammaglobulinemia, X-Linked	Sepsis, Decreased circulating IgE, Conjunctivitis, Decreased circulating IgG level, Meningitis, I...	OMIM:300755
Short Syndrome	Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res...	ORPHA:3163
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Anorexia, Lymphadenopathy	ORPHA:86893
Laron Syndrome	Microdontia, Tooth agenesis, Delayed eruption of teeth, Micrognathia	ORPHA:633
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia	ORPHA:217390
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond...	ORPHA:1416
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Familial Hypoaldosteronism	Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul...	ORPHA:427
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, Hyperlipidemia, Nephrolithiasis,...	OMIM:232200
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe...	OMIM:619326
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,...	OMIM:619418
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormality of the dentition, Hyperlipidemia, Flexion contracture, Limitation of joint mobility, ...	ORPHA:90153
Nocardiosis	Liver abscess, Anorexia, Lymphadenitis, Sepsis, Conjunctivitis, Meningitis, Infectious encephalit...	ORPHA:31204
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Recurrent skin infections, Scarring, Craniosynostosis, Sepsis, Recurrent infections, Decreased ci...	ORPHA:79396
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Glucose-Galactose Malabsorption	Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia	ORPHA:35710
Mixed Connective Tissue Disease	Myositis, Pericarditis, Skin rash, Gastritis, Joint stiffness, Myocarditis, Osteolysis, Arthritis...	ORPHA:809
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
Alg8-Cdg	Hyponatremia, Thrombocytopenia, Ascites, Anemia	ORPHA:79325
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly, Abnormality of iron homeostasis	ORPHA:75563
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Increase...	OMIM:618892
Chédiak-Higashi Syndrome	Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Pericardial effu...	ORPHA:167
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Schistocytosis, Elevated circulating cre...	OMIM:274150
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Mitochondrial Complex I Deficiency, Nuclear Type 36	Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly	OMIM:619170
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Odontochondrodysplasia	Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta	ORPHA:166272
Weismann-Netter Syndrome	Delayed eruption of permanent teeth	OMIM:112350
Necrobiosis Lipoidica	Granuloma, Abnormality of neutrophil physiology	ORPHA:542592
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	ORPHA:42
Lassa Fever	Shock, Jaundice, Sepsis, Increased circulating IgM level, Conjunctivitis, Dysphagia	ORPHA:99824
Kenny-Caffey Syndrome, Type 1	Carious teeth, Delayed skeletal maturation, Recurrent bacterial infections, Hypocalcemia, Hypomag...	OMIM:244460
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Diabetes mellitus, Dorsocervical fat pad, Acne, Adrenal hyperplasia, Osteoporosis, In...	OMIM:615830
Aarskog-Scott Syndrome	Delayed eruption of teeth, Cleft upper lip, Hypoplasia of the maxilla, Abnormality of the dentiti...	ORPHA:915
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Renal salt wasting, Hypersplenism, Mi...	ORPHA:275761
Bone Marrow Failure Syndrome 4	Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt...	OMIM:618116
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepatitis, Sepsis, Mele...	ORPHA:319218
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Anorexia, Thrombocytopenia, Splenomegaly, Hyperammonemia, Card...	ORPHA:79312
Immunodeficiency 22	Abscess, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating IgE, Decreased ...	OMIM:615758
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
4H Leukodystrophy	Delayed eruption of teeth, Hypodontia, Abnormality of the dentition	ORPHA:289494
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Rheumatoid Arthritis	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Joint stiffnes...	OMIM:180300
Aggressive Systemic Mastocytosis	Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosi...	ORPHA:98850
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Splenomegaly, Cardiomyo...	OMIM:235200
Q Fever	Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Unusual infection, Myocarditis, ...	ORPHA:781
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Hepatosplenomegaly, Abnormal natural killer cell physiology, Decreased circulating ...	OMIM:613101
Attrv30M Amyloidosis	Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly	ORPHA:85447
Coffin-Siris Syndrome 3	Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permanent teeth, Thick vermilion bord...	OMIM:614608
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Renal insufficiency, Salt craving, Hypercalcemia, Anorexia, Rena...	ORPHA:95409
Pelger-Huet Anomaly	Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr...	OMIM:169400
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe...	ORPHA:51636
Listeriosis	Brain abscess, Pericarditis, Stiff neck, Osteomyelitis, Pneumonia, Unusual skin infection, Pustul...	ORPHA:533
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Moderate postnat...	ORPHA:69076
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Juvenile Huntington Disease	Broad-based gait, Hyperactivity, Ataxia, Gait ataxia, Bradykinesia, Weight loss, Progressive cere...	ORPHA:248111
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Re...	OMIM:615559
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia	ORPHA:858
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Autoimmunity, Increased circulating free fatty acid level, Large for ges...	ORPHA:293964
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Coccidioidomycosis	Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Coccidioidal meningitis, Erythema nodosum, Inv...	ORPHA:228123
Rett Syndrome	Increased serum pyruvate, Inability to walk, Hyperammonemia, Bradykinesia, EEG abnormality, Gait ...	ORPHA:778
Hepatic Veno-Occlusive Disease	Renal insufficiency, Increased body weight, Increased total bilirubin	ORPHA:890
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Decreased lymphocyte proliferation in...	OMIM:619313
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N...	OMIM:214900
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ...	ORPHA:3243
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight...	OMIM:616222
Lipodystrophy, Familial Partial, Type 7	Lack of facial subcutaneous fat, Dysmetria, Gait ataxia, Glucose intolerance, Decreased adipose t...	OMIM:606721
Diffuse Cutaneous Systemic Sclerosis	Carious teeth, Arthritis, Flexion contracture, Osteolysis	ORPHA:220393
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Splenomegaly, Irritability, Thrombocytopenia	OMIM:615010
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Rheumatoid factor positive, Abscess, Perianal abscess, Splenomegaly, Hepatosple...	OMIM:618935
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Transcobalamin Ii Deficiency	Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t...	OMIM:275350
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Recurrent urinary tract infections, Sinusitis, Hypouricemia, Increased circu...	OMIM:613179
Eosinophilopenia	Autoimmunity	OMIM:131430
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia	OMIM:620157
Mehmo Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, A...	OMIM:300148
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m...	ORPHA:952
Immunodeficiency 32A	Fever, Lymphadenitis, BCGitis, Recurrent infections	OMIM:614893
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo...	ORPHA:50814
Cardiac-Urogenital Syndrome	Accessory spleen, Cor triatrium sinister, Penoscrotal hypospadias, Ventricular septal defect, Dex...	OMIM:618280
Lymphangiectasia, Intestinal	Lymphopenia, Decreased circulating IgG level	OMIM:152800
Gitelman Syndrome	Maternal diabetes, Glucose intolerance, Tubulointerstitial nephritis, Hypocalcemia, Prominent U w...	ORPHA:358
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc...	OMIM:257850
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve...	OMIM:300291
Infant Botulism	Hyponatremia, Anorexia, Dysphagia	ORPHA:178478
Rat-Bite Fever	Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly...	ORPHA:31205
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis	OMIM:270150
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Renal salt wasting, Long penis, Hyperkalemia, Elevated urinary epinephrine level, H...	ORPHA:90794
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Hypersex...	ORPHA:905
Char Syndrome	Persistence of primary teeth, No permanent dentition, Thick vermilion border, Everted lower lip v...	ORPHA:46627
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth	OMIM:272300
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Dental malocclusion, High palate, Hypodontia, Bifid uvula	OMIM:612350
Huntington Disease-Like 2	Memory impairment, Dementia, Gait disturbance, Weight loss	ORPHA:98934
Cryptococcosis	Osteomyelitis, Pneumonia, Meningitis, Peritonitis, Osteolysis, Sepsis, Prostatitis	ORPHA:1546
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadeni...	OMIM:618886
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Maculopapular exanthema, Skin rash, Splenomegaly...	ORPHA:398124
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	ORPHA:90003
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Neonatal sepsis, Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypogly...	ORPHA:90790
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu...	ORPHA:91547
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Acne, Abnormality of the endocrine system, Abnormality of the thyroid gland, O...	ORPHA:77296
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl...	ORPHA:449395
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis	ORPHA:139578
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Flexion contracture of finger, Osteomyelitis, Camptodactyly	ORPHA:88628
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia...	OMIM:200995
Huntington Disease-Like 2	Subcortical dementia, Weight loss, Bradykinesia, Depression, Irritability, Dementia, Memory impai...	OMIM:606438
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Decreased...	OMIM:614878
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased...	OMIM:617780
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Hyperalaninemia, Hyperprolinemia, Cardiomegaly	OMIM:619064
Familial Multiple Lipomatosis	Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia, Overgrowth	ORPHA:199276
Adiposis Dolorosa	Depression, Obesity, Painful subcutaneous lipomas	OMIM:103200
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Renal dysplasia, Elevated circulating creatinine concentration, Abnorm...	OMIM:616733
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hyp...	OMIM:602579
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Autoimmunity, Severe varicella zoster infection, Splenomegaly, Recurrent...	ORPHA:397596
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Sepsis, Hypoxemia, Bradycardia, Hypotension	ORPHA:70587
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l...	ORPHA:158057
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Elevated circulat...	ORPHA:355
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hyperammonemia	ORPHA:664
Letterer-Siwe Disease	Seborrheic dermatitis, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocytopenia	OMIM:246400
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Elevated circulating C-reactive protein ...	ORPHA:85414
Adrenal Hypoplasia, Congenital	Hyponatremia, Renal salt wasting	OMIM:300200
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Submucous cleft hard palate, Cleft palat...	ORPHA:2712
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m...	ORPHA:2107
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Hyperactivity, Focal EEG discharges with secondary generalization, Anorexia, Ag...	ORPHA:3077
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody...	ORPHA:93126
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc...	OMIM:613470
Bone Dysplasia, Lethal Holmgren Type	Joint dislocation, Recurrent respiratory infections, Hepatomegaly, Abnormality of the elbow, Weig...	ORPHA:1842
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Dilated cardiomyo...	OMIM:610505
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop...	ORPHA:35858
Placental Insufficiency	Antiphospholipid antibody positivity, Small for gestational age, Insulin resistance, Systemic lup...	ORPHA:439167
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	OMIM:157980
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Ataxia, Left ventricular hypertrophy, Abnormal atrioventricular con...	ORPHA:3208
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion	OMIM:601957
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Postnatal growth retardation...	ORPHA:508
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Maturity-onset diabetes of the young, Postnatal growth retardation, Precocious puberty, Obesity, ...	ORPHA:254531
Poems Syndrome	Sclerosis of hand bone, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Abnormality of ...	ORPHA:2905
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ...	OMIM:608022
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Recurrent urinary tract infections, Mandibular prognathia, Pneumonia, C...	ORPHA:309282
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Immunodeficiency 10	Amelogenesis imperfecta, Recurrent bacterial infections, Recurrent infections	OMIM:612783
Indolent Systemic Mastocytosis	Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology	ORPHA:98848
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:255120
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi...	ORPHA:615
Estrogen Resistance Syndrome	Osteopenia, Acne, Enlarged polycystic ovaries, Delayed epiphyseal ossification, Absence of second...	ORPHA:785
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:212140
Systemic Sclerosis	Pericarditis, Osteomyelitis, Recurrent skin infections, Elevated circulating creatine kinase conc...	ORPHA:90291
H Syndrome	Hypertriglyceridemia, Psoriasiform dermatitis, Recurrent fractures, Cleft upper lip, Recurrent ph...	ORPHA:168569
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Subcorneal Pustular Dermatosis	Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma...	ORPHA:48377
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Impulsivity, Generalized joint laxity, Recurrent upper respiratory tract infections, Increased bo...	ORPHA:589905
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Increased circulating interleukin 6 concentration, H...	ORPHA:540
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom...	OMIM:613011
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M...	ORPHA:1452
Isolated Congenital Hypoglossia/Aglossia	Aspiration pneumonia, Weight loss	ORPHA:141152
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Decreased circulating IgA level	OMIM:215250
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r...	OMIM:218400
Familial Dysautonomia	Hyponatremia, Abnormal peritoneum morphology, Renal insufficiency, Glomerulopathy, Abnormality of...	ORPHA:1764
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Bone pain, Downturned corners of mouth, Periodo...	ORPHA:955
Pycnodysostosis	Obtuse angle of mandible, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxi...	ORPHA:763
Oslam Syndrome	Carious teeth, Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Acrootoocular Syndrome	Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth...	ORPHA:2980
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Anorexia, Lacticacid...	ORPHA:3008
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia	OMIM:261750
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia	ORPHA:75234
Idiopathic Bronchiectasis	Fever, Bronchiectasis, Recurrent Haemophilus influenzae infections, Acute infectious pneumonia, R...	ORPHA:60033
Addison Disease	Hyponatremia, Normocytic anemia, Salt craving, Hypercalcemia, Anorexia, Renal salt wasting, Decre...	ORPHA:85138
Prader-Willi Syndrome	Osteopenia, Recurrent respiratory infections, Failure to thrive in infancy, Hypogonadotropic hypo...	OMIM:176270
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Congestive heart failure, Limitation of joint mobility, Flexion contracture, Joint hype...	ORPHA:157973
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hypospadias, Scrotal hypospadias, Hyperkalemia, Perineal hypospadias, Microphallus,...	OMIM:201810
Multiple Myeloma	Tall stature, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating ...	ORPHA:29073
Huntington Disease-Like 1	Restlessness, Dysmetria, Gait ataxia, Weight loss, EEG abnormality, Bradykinesia, Dementia, Gait ...	ORPHA:157941
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Agita...	OMIM:619046
Panhypophysitis	Hyponatremia, Normochromic anemia, Hyposthenuria, Polydipsia	ORPHA:95513
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Increased circulating renin level, P...	ORPHA:90791
Primary Sclerosing Cholangitis	Osteopenia, Acute hepatic failure, Spider hemangioma, Uveitis, Hypoalbuminemia, Hepatic fibrosis,...	ORPHA:171
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Anuria, Myocarditis, Leukocytosis, Hyperkalemia, Oliguria, Decrea...	ORPHA:544482
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Alpha-1-Antitrypsin Deficiency	Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ...	ORPHA:293173
Mehmo Syndrome	EEG abnormality, Diabetes mellitus, Agitation, Obesity	ORPHA:85282
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Joint laxity, Recurrent respiratory infections, Multiple joint contractures, Overweight, Delayed ...	ORPHA:486815
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Skin rash, Bone pain, Osteolysis, Avascular necrosis	ORPHA:35687
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsive behaviors, Abnorma...	ORPHA:534
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Brucellosis	Anterior uveitis, Pericarditis, Osteomyelitis, Pneumonia, Elevated circulating C-reactive protein...	ORPHA:1304
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM	OMIM:615139
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia	OMIM:258360
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Weight loss, Dysphagia, Ascites	ORPHA:2198
Three M Syndrome 2	Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru...	OMIM:612921
Oligomeganephronia	Renal insufficiency, Small for gestational age, Proteinuria, Unilateral renal agenesis, Glomerulo...	ORPHA:2260
Graft Versus Host Disease	Fasciitis, Myositis, Limited elbow movement, Gastrointestinal inflammation, Acute hepatitis, Stif...	ORPHA:39812
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia	OMIM:614381
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ...	OMIM:242860
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati...	ORPHA:98855
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cortical cysts, ...	OMIM:130650
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the...	OMIM:170390
Tuberculosis	Weight loss	ORPHA:3389
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Precocious puberty, Insulin...	ORPHA:813
Aredyld Syndrome	Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Type II dia...	ORPHA:1133
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Anorexia, Weight loss	ORPHA:2023
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Lamellar Ichthyosis	Recurrent respiratory infections, Sepsis, Cognitive impairment, Erythroderma, Chronic otitis media	ORPHA:313
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Impaired gl...	OMIM:617253
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Patchy osteosclerosis, Micrognathia, Delayed skeletal maturation, Recur...	OMIM:241410
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula...	ORPHA:470
Trichorhinophalangeal Syndrome, Type I	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ...	OMIM:190350
Babesiosis	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Jaundice, Depression...	ORPHA:108
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic l...	OMIM:607944
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Gingiviti...	OMIM:214500
Hepatoerythropoietic Porphyria	Osteopenia, Recurrent bacterial skin infections, Erythrodontia, Abnormal circulating porphyrin co...	ORPHA:95159
Spinocerebellar Ataxia 48	Ataxia, Cachexia, Dysmetria, Gait ataxia, Depression, Irritability, Dysphagia, Mental deterioration	OMIM:618093
Chronic Hiccup	Depression, Abnormal eating behavior, Weight loss	ORPHA:396
X-Linked Acrogigantism	Increased body mass index, Decreased thyroid-stimulating hormone level, Enlarged pituitary gland,...	ORPHA:300373
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Immunodeficiency 23	Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Eczema, Allergic rhin...	OMIM:615816
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy,...	OMIM:614702
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,...	OMIM:616589
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Oral-pharyngeal dysphagia, Postnatal growth retardation, Obesity, Lipoma, Chronic otitis media, J...	ORPHA:480907
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Hepatic steatosis, Hypothyroidism, Self-mutilation, Hepatomega...	OMIM:619487
Menkes Disease	Gastrointestinal hemorrhage, Inguinal hernia, Osteomyelitis, Hypoglycemia, Recurrent fractures, T...	ORPHA:565
Combined Oxidative Phosphorylation Deficiency 41	Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly	OMIM:618838
Atypical Werner Syndrome	Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, He...	ORPHA:79474
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Elevated hepatic transaminase, Hypogonadotropic hypogo...	ORPHA:298
Senior-Boichis Syndrome	Polydipsia, Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the he...	ORPHA:84081
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele...	ORPHA:100085
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Codas Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1458
Vipoma	Anorexia, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Hematochezia, Neopla...	ORPHA:97282
Chikungunya	Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Knee pain, Periostitis, Cr...	ORPHA:324625
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:201475
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t...	ORPHA:192
Stevens-Johnson Syndrome	Acute hepatic failure, Recurrent respiratory infections, Elevated hepatic transaminase, Gastroint...	ORPHA:36426
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Acne, Biliary tract abnormality, Obesity, Type II diabetes mellitus, Arrhythmia,...	ORPHA:3191
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly, Dysphagia	ORPHA:77260
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypodontia	ORPHA:447896
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru...	OMIM:615607
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Toxic Epidermal Necrolysis	Acute hepatic failure, Recurrent respiratory infections, Elevated hepatic transaminase, Gastroint...	ORPHA:537
Griscelli Syndrome Type 2	Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia	ORPHA:79477
Psoriasis 14, Pustular	Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis, Polyar...	OMIM:614204
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Stomatitis, Eczema, Ataxia, Postnatal growth retardation, Osteopor...	OMIM:212750
Mastocytosis, Cutaneous	Cutaneous mastocytosis	OMIM:154800
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Left a...	ORPHA:57777
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Hereditary Central Diabetes Insipidus	Weight loss, Irritability, Lethargy, Polydipsia, Diabetes insipidus	ORPHA:30925
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Open bite, Abnormality of dental eruption, Dental malocclusion, Downturned...	ORPHA:1327
Systemic Lupus Erythematosus, Susceptibility To, 6	Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash	OMIM:609939
Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati...	ORPHA:98853
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ...	OMIM:102700
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology, Cleft palate, Cleft upper lip	ORPHA:398189
Gaucher Disease Type 3	Recurrent respiratory infections, Increased bone mineral density, Delayed skeletal maturation, Bo...	ORPHA:77261
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Rhinitis, Incre...	ORPHA:507
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Hypertriglyceridemia, Proteinuria, Chronic neutropenia, Hyperlipidemia, Hepatocellu...	ORPHA:79259
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co...	ORPHA:228308
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Sepsis, Abnormal intrahepatic bile duc...	ORPHA:480520
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath...	OMIM:617237
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis...	ORPHA:69126
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Osteomyelitis	OMIM:256800
Adenohypophysitis	Hyponatremia, Normochromic anemia, Hyposthenuria	ORPHA:95512
Christianson Syndrome	Cachexia, Dysphagia, Gait ataxia, Joint hyperflexibility, Inappropriate laughter, Truncal ataxia,...	ORPHA:85278
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Hypotriglyceridemia, Decreased circulating apolipoprotein B concentration	OMIM:256840
Say-Barber-Miller Syndrome	Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell...	ORPHA:3132
Alg9-Cdg	Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericard...	ORPHA:79328
Propionic Acidemia	Pancytopenia, Eczema, Osteoporosis, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	OMIM:606054
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology	ORPHA:1782
Incontinentia Pigmenti	Delayed eruption of teeth, Skin rash, Camptodactyly of finger, Abnormal dental enamel morphology,...	ORPHA:464
Bangstad Syndrome	Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, EEG abnormality, Increased circul...	ORPHA:1227
Monosomy 13Q34	Hypercalcemia, Epistaxis, Insulin resistance, Obesity, Hematochezia, Pulmonic stenosis, Osteochon...	ORPHA:96168
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth	OMIM:617105
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C...	ORPHA:96263
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	ORPHA:2563
Bullous Pemphigoid	Diabetes mellitus, Psoriasiform dermatitis, Eczema, Autoimmunity, Weight loss, Recurrent infections	ORPHA:703
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula...	ORPHA:264580
Dyskeratosis Congenita, Autosomal Recessive 5	Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level	OMIM:615190
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Cardiomegaly, Cardiac amyloidosis, Hypertrophic ca...	ORPHA:85451
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Ataxia, Flexion contracture, Obesity, Emotional lability, Choreoathetosis, Bradykin...	OMIM:300055
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Hyperactivity, Ataxia, EEG with generalized polyspikes, Precocious puberty, Aggress...	ORPHA:163681
X-Linked Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Lipodystrophy, Elevated circulati...	ORPHA:98863
Lymphoid Interstitial Pneumonia	Hepatomegaly, Skin rash, Eczema, Autoimmunity, Raynaud phenomenon, Autoimmune antibody positivity...	ORPHA:79128
Pfapa Syndrome	Hepatomegaly, Recurrent pharyngitis, Splenomegaly, Weight loss, Arthritis, Infectious encephalitis	ORPHA:42642
Immunodeficiency 47	Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Dec...	OMIM:300972
Congenital Analbuminemia	Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morphology...	ORPHA:2162
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c...	OMIM:613095
Somatostatinoma	Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic...	ORPHA:97283
Cockayne Syndrome Type 2	Mandibular prognathia, Delayed eruption of primary teeth, Widely spaced primary teeth, Hypoplasia...	ORPHA:90322
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Postnatal growt...	ORPHA:254516
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia, Anemia	OMIM:620366
Porphyria, Congenital Erythropoietic	Osteopenia, Erythrodontia, Osteolysis, Conjunctivitis, Elevated circulating uroporphyrin concentr...	OMIM:263700
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Chronic Granulomatous Disease	Recurrent respiratory infections, Hepatomegaly, Sinusitis, Liver abscess, Eczema, Splenomegaly, S...	ORPHA:379
Flynn-Aird Syndrome	Ataxia, Cachexia, Joint stiffness, Abnormality of the thyroid gland, Primary adrenal insufficienc...	ORPHA:2047
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:619051
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Aromatase Deficiency	Eunuchoid habitus, Osteopenia, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Hyper...	ORPHA:91
Primary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro...	ORPHA:90362
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Lipodystrophy, Sinus...	OMIM:617591
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level	ORPHA:90159
Omenn Syndrome	Hepatomegaly, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent bacterial infections...	OMIM:603554
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C...	ORPHA:96264
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Cleft ...	ORPHA:2780
Oculopharyngodistal Myopathy	Oral-pharyngeal dysphagia, Weight loss, Impaired oropharyngeal swallow response, Difficulty walki...	ORPHA:98897
Mcleod Syndrome	Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, D...	OMIM:300842
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth	ORPHA:3238
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Myocardial infarction, Gastrointestinal inflammation, Reduced bone mineral density, G...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Myocardial infarction, Gastrointestinal inflammation, Reduced bone mineral density, G...	ORPHA:99228
Monosomy X	Osteopenia, Myocardial infarction, Gastrointestinal inflammation, Reduced bone mineral density, G...	ORPHA:99226
Turner Syndrome	Osteopenia, Myocardial infarction, Gastrointestinal inflammation, Reduced bone mineral density, G...	ORPHA:881
Infantile Systemic Hyalinosis	Osteopenia, Abnormal dental morphology, Recurrent fractures, Osteomalacia, Camptodactyly of finge...	ORPHA:2176
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Dental crowding, Micrognathia, Submucous cleft lip, Cleft p...	ORPHA:96170
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated circulating creatine kinase concentration, Left atrial enlargem...	OMIM:300280
Zygomycosis	Brain abscess, Fasciitis, Sinusitis, Pericarditis, Gastritis, Unusual skin infection, Pustule, My...	ORPHA:73263
Gm1 Gangliosidosis	Recurrent respiratory infections, Inguinal hernia, Ataxia, Camptodactyly of finger, Joint stiffne...	ORPHA:354
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Episcleritis, Hepatomegaly, Skin rash, Autoimmunity, Ataxia, Splenomegaly, Uve...	ORPHA:36412
Odontochondrodysplasia 1	Delayed eruption of teeth, Dentinogenesis imperfecta, Long philtrum	OMIM:184260
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Erythrokeratodermia Variabilis	Diabetes mellitus, Skin rash, Weight loss	ORPHA:317
Glucagonoma	Anorexia, Hepatomegaly, Intermittent jaundice, Depression, Increased circulating cortisol level, ...	ORPHA:97280
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Maturity-onset diabetes of the young, Postnatal growth retardation, Pr...	ORPHA:96184
Smith-Magenis Syndrome	Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Self hugging, Increased bo...	OMIM:182290
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Open mouth	ORPHA:950
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Lim...	ORPHA:740
Poikiloderma With Neutropenia	Joint laxity, Skin rash, Joint stiffness, Splenomegaly, Recurrent pneumonia, Leukopenia, Conjunct...	OMIM:604173
Bardet-Biedl Syndrome 1	Diabetes mellitus, Ataxia, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abno...	OMIM:209900
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Aplastic anemia, Selective tooth agenesis, Abnormal dental enamel morp...	ORPHA:2909
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm...	OMIM:614753
Hsd10 Disease, Infantile Type	Restlessness, Cardiomegaly, Hyperammonemia, Dysphagia, Hypertrophic cardiomyopathy, Abnormal conc...	ORPHA:391428
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Hyperactivity, Broad-based gait, Ataxia, Obesity, EEG abnormality, Inapprop...	ORPHA:411515
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Thrombocytopenia, Reticulocytopenia, Gingival overgrowth, Leukopenia, ...	ORPHA:508542
Recon Progeroid Syndrome	Prominence of the premaxilla, Dental crowding, Thrombocytopenia, Anemia, Thin vermilion border, D...	OMIM:620370
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Depression, Thrombocytopenia	OMIM:231000
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:79240
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Flexion contracture, Increased body weight, Compulsive behaviors, Lethargy, Hypothala...	ORPHA:398069
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Takayasu Arteritis	Increased inflammatory response, Anorexia, Myocardial infarction, Vasculitis, Weight loss, Arthri...	ORPHA:3287
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Igg4-Related Aortitis	Autoimmunity, Elevated circulating C-reactive protein concentration, Increased circulating IgG4 l...	ORPHA:449400
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Tubulointerstitial nephritis, Neutropenia, Pancreatitis, Thrombocytopenia	OMIM:251000
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Hyperuri...	ORPHA:261222
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Pneumonia, Elevated circulating growth hormone concentrati...	ORPHA:97287
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Elevated hepatic transaminase, Broad-based gait, Multiple joint contractures, Small f...	ORPHA:2959
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Lupus anticoagulant, Hashimoto thyroiditis...	OMIM:615688
Congenital Erythropoietic Porphyria	Osteopenia, Recurrent bacterial skin infections, Erythrodontia, Abnormal circulating porphyrin co...	ORPHA:79277
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Autoimmunity, Weight loss, Atypical scarring of skin, Recu...	ORPHA:704
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Micrognathia, Cleft l...	OMIM:619148
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Webb-Dattani Syndrome	Neurogenic bladder, Hyposthenuria, Vesicoureteral reflux, Hypernatremia, Hydronephrosis	OMIM:615926
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Overweight, Goiter, Elevated circulating thyroid-sti...	ORPHA:99832
Eosinophilic Fasciitis	Myositis, Fasciitis, Weight loss, Arthritis, Cellulitis, Acrocyanosis	ORPHA:3165
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper...	ORPHA:819
Wiskott-Aldrich Syndrome	Sinusitis, Sepsis, Intracranial hemorrhage, Inflammation of the large intestine, Conjunctivitis, ...	ORPHA:906
Cranio-Osteoarthropathy	Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling	ORPHA:1525
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e...	ORPHA:652
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia, Reduced antigen-specific T cell proliferation, Eosinophilic ...	OMIM:616433
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529808
Lowry-Maclean Syndrome	Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ...	ORPHA:2409
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Evans Syndrome	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr...	ORPHA:1959
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuri...	OMIM:239200
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co...	ORPHA:94086
Beckwith-Wiedemann Syndrome	Hepatomegaly, Ureteral duplication, Nephroblastoma, Elevated circulating alpha-fetoprotein concen...	ORPHA:116
Plague	Chapped lip, Anorexia, Lymphadenitis, Sepsis, Acute infectious pneumonia, Inflammation of the lar...	ORPHA:707
Ppoma	Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic...	ORPHA:97278
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent...	ORPHA:563
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Enlarged kidney, Splenic cyst	OMIM:618188
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmunity, Autoimmune thrombocytopenia, Neutropenia in pr...	OMIM:615952
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Depression, Enuresis, Self-injur...	ORPHA:293987
Rabin-Pappas Syndrome	Hyponatremia	OMIM:620155
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple...	ORPHA:64743
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Hypernatr...	ORPHA:168558
Secondary Non-Traumatic Avascular Necrosis	Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:399180
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Increased circulating ferritin concentration, Splenomegaly, Jaundi...	OMIM:194380
Type 1 Diabetes Mellitus	Autoimmunity, Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Progressive neurologic deterioration, Cachexia, Gait ataxia, Weight loss, Failure to thrive	OMIM:612075
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephritis, Hyperuricemia, Gout	OMIM:162000
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu...	OMIM:252500
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating...	ORPHA:913
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Oligodontia, Microdontia, Anemia	ORPHA:2315
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Insulin resistance, Reduced bone mineral density, Right bund...	OMIM:619322
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cleft palate, Hypoplasia of t...	OMIM:607812
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Inguinal hernia, Small for gestational age, Craniosynostosis, Sepsis, Recurrent infec...	ORPHA:363611
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri...	ORPHA:85408
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Hypernatr...	ORPHA:289548
Anti-Glomerular Basement Membrane Disease	Anemia, Persistence of primary teeth	ORPHA:375
Brachydactyly, Type B1	Delayed eruption of permanent teeth	OMIM:113000
Developmental Delay, Hypotonia, And Impaired Language	Recurrent pneumonia, Neutropenia	OMIM:620012
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Nephroblastoma, Ascites	OMIM:253250
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Abnormal circul...	ORPHA:440437
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Weight loss, ...	ORPHA:2126
Pleural Mesothelioma	Hepatomegaly, Abnormal cardiovascular system physiology, Dysphagia, Weight loss	ORPHA:50251
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevat...	ORPHA:230
Wiskott-Aldrich Syndrome	Recurrent herpes, Sepsis, Large vessel vasculitis, Inflammation of the large intestine, Small ves...	OMIM:301000
Japanese Encephalitis	Hyponatremia, Neutrophilia, Anorexia	ORPHA:79139
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Sudden cardiac death, Sepsis, Weight loss, Recur...	ORPHA:764
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Alveolar ridge overgrowth, Painless fractures due to injury, Recurrent ...	ORPHA:642
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Recurrent urinary tract infections, Psoriasiform dermatitis, Ataxia, Recurrent ear in...	ORPHA:221139
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Oligodontia, Absent...	OMIM:224300
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Weight loss, Inflammation of the large intestine, Hernia, Ascites	ORPHA:26790
Cohen Syndrome	Genu valgum, Leukopenia, Neutropenia, Cubitus valgus, Joint hypermobility	OMIM:216550
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Neutropenia, Lymphopenia	OMIM:617827
Mitochondrial Complex I Deficiency, Nuclear Type 33	Bronchiectasis, Aspiration pneumonia, Neutropenia	OMIM:618253
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato...	OMIM:300855
Holocarboxylase Synthetase Deficiency	Ataxia, Eczema, Anorexia, Hyperammonemia, Keratoconjunctivitis, Weight loss, Irritability, Lethar...	ORPHA:79242
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Narrow joint spaces of the elbow, Small for gestational age, Decreased response to growth hormone...	ORPHA:96182
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne...	OMIM:300908
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent...	OMIM:601847
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration, Obesity	OMIM:603233
Diamond-Blackfan Anemia 11	Radioulnar synostosis, Anemia of inadequate production, Neutropenia	OMIM:614900
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Inability to walk, Flexion contracture, Obesity, Hypog...	OMIM:615547
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale	OMIM:601005
Refsum Disease, Classic	Cardiomyopathy, Elevated circulating phytanic acid concentration, Abnormal renal physiology, Card...	OMIM:266500
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ataxia, Slender build, Cachexia, Weight loss	OMIM:613662
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614376
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Riboflavin Transporter Deficiency	Ataxia, Cachexia, Aggressive behavior, Hypertension, Hypogonadism, Dysphagia, Diabetes insipidus	ORPHA:97229
Steinert Myotonic Dystrophy	Prolonged QRS complex, Decreased response to growth hormone stimulation test, Oral-pharyngeal dys...	ORPHA:273
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Large for gestational age,...	ORPHA:45452
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi...	ORPHA:1071
Vici Syndrome	Decreased circulating IgG level, Recurrent respiratory infections, Elevated circulating creatine ...	OMIM:242840
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Elevated hepatic transaminase, Ataxia,...	ORPHA:20
Riddle Syndrome	Conjunctival telangiectasia, Ataxia, Pneumonia, Elevated circulating alpha-fetoprotein concentrat...	ORPHA:420741
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc...	ORPHA:99889
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia	ORPHA:2050
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem...	ORPHA:439232
Chime Syndrome	Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Osteolysis, Cleft ...	ORPHA:3474
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Weight loss, Hypoalbuminemi...	ORPHA:2494
Emanuel Syndrome	Broad jaw, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Cleft palate, High p...	OMIM:609029
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color, Increased total bilirubin	ORPHA:90037
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Pituitary Apoplexy	Hyponatremia, Normochromic anemia	ORPHA:95613
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Thick vermilion border, Everted lower lip vermilion, High palate, Shor...	OMIM:615866
Grfoma	Anorexia, Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increase...	ORPHA:97261
Bent Bone Dysplasia Syndrome 1	Natal tooth, Micrognathia, Gingival overgrowth, Hepatosplenomegaly, Malar flattening	OMIM:614592
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Anorexia, Right ventricular...	ORPHA:100080
Hypercalcemia, Infantile, 1	Hypercalcemia, Decreased circulating parathyroid hormone level, Weight loss, Lethargy, Failure to...	OMIM:143880
Sheehan Syndrome	Hyponatremia, Normochromic anemia, Hyposthenuria	ORPHA:91355
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-rea...	ORPHA:829
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Decreased proportion of memory B cells...	ORPHA:79124
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo...	ORPHA:26793
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology	ORPHA:3353
Estrogen Resistance	Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Acne, Hyperinsul...	OMIM:615363
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Carious teeth, Widely spaced teeth, Yellow-brown discoloration of the ...	OMIM:619229
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Stomatitis, Thrombocytopenia	ORPHA:520
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig...	OMIM:269300
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Ataxia, Anorexia, Hyperammonemia, Weight loss, Hypertension, Agitatio...	ORPHA:134
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Enamel hypoplasia, Carious teeth	OMIM:277440
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Dysph...	OMIM:615873
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Mucolipidosis Type Ii	Knee flexion contracture, Otitis media, Telangiectases of the cheeks, Prominent metopic ridge, Li...	ORPHA:576
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's...	ORPHA:261494
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect...	ORPHA:500095
Coach Syndrome 2	Hyperechogenic kidneys, Elevated circulating creatinine concentration	OMIM:619111
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney	ORPHA:276280
Trichothiodystrophy 3, Photosensitive	Natal tooth, Increased circulating IgA level, Carious teeth, Neutropenia, Eclabion, Lymphopenia	OMIM:616395
Severe Generalized Junctional Epidermolysis Bullosa	Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, Dilated cardiomyopathy,...	ORPHA:79404
Cushing Disease	Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Increased body ...	ORPHA:96253
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Joint laxity, Thin upper lip vermilion, Osteomyelitis, Recurrent ear infections, High, narrow pal...	OMIM:619475
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Enamel hypoplasia	OMIM:612462
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level	OMIM:616576
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas...	OMIM:615954
Inhalational Anthrax	Internal hemorrhage, Confusion, Sepsis, Hypotension	ORPHA:247257
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Osteoporosis, Increased mean corpuscular volume, Neutropenia	ORPHA:2169
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:278000
Rhabdoid Tumor	Hypercalcemia, Weight loss, Neoplasm of the liver, Irritability, Hypertension, Internal hemorrhage	ORPHA:69077
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Tooth malposition, Micrognathia	ORPHA:2484
Occipital Horn Syndrome	Osteopenia, Recurrent urinary tract infections, Osteomalacia, Avascular necrosis of the capital f...	ORPHA:198
Giant Cell Arteritis	Pericarditis, Diabetes insipidus, Ataxia, Anorexia, Joint stiffness, Sudden cardiac death, Recurr...	ORPHA:397
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Esophagitis, Neut...	OMIM:612562
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, N...	OMIM:617713
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia, Pulmonic stenosis, Multiple muscular ventricular septal defects	OMIM:615508
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Pemphigus Erythematosus	Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S...	ORPHA:79480
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:613989
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ...	ORPHA:464321
Frontometaphyseal Dysplasia 1	Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal...	OMIM:305620
Isaacs Syndrome	EEG abnormality, Weight loss	ORPHA:84142
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Autoimmunity, Autoimmune thrombocytopenia, Abnormal T ...	ORPHA:760
Macrocephaly/Autism Syndrome	Joint laxity, Short attention span, Hepatomegaly, Large for gestational age, Splenomegaly, Obesit...	OMIM:605309
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Thrombocytopenia, Neutropenia	OMIM:614857
15Q24 Microdeletion Syndrome	Joint laxity, Small for gestational age, Decreased response to growth hormone stimulation test, C...	ORPHA:94065
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Scarring, Recurrent pneumonia, Sepsis, Cheilitis, Difficu...	ORPHA:158668
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
13Q12.3 Microdeletion Syndrome	Recurrent respiratory infections, Hyperactivity, Congenital diaphragmatic hernia, Obesity, Atopic...	ORPHA:412035
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness...	ORPHA:85436
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Everted lower lip vermilion, Long...	ORPHA:2067
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Schimke Immuno-Osseous Dysplasia	Autoimmunity, Minimal change glomerulonephritis, Thrombocytopenia, Decreased proportion of naive ...	ORPHA:1830
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Enamel hypoplasia	OMIM:103580
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Lynch Syndrome	Neoplasm of the pancreas, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Pituitary adeno...	ORPHA:144
Classic Pantothenate Kinase-Associated Neurodegeneration	Inability to walk, Increased susceptibility to fractures, Weight loss, Tip-toe gait, Gait disturb...	ORPHA:216866
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Anorexia, Jaundice, Weight loss, Cholestatic liver disease, Acholi...	ORPHA:65682
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Inguinal hernia, Splenomegaly, Limb ataxia, Gait ataxia, Decreased circulating anti...	OMIM:248500
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Anorexia, Right ventricular...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Anorexia, Right ventricular...	ORPHA:100082
Car T Cell Therapy-Associated Cytokine Release Syndrome	Fever, Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin r...	ORPHA:542323
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Hermansky-Pudlak Syndrome 2	Chronic oral candidiasis, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, ...	OMIM:608233
3M Syndrome	Delayed eruption of teeth, Everted lower lip vermilion, Abnormal dental enamel morphology, Long p...	ORPHA:2616
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit...	OMIM:616050
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Patent urachus	OMIM:618252
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Micrognathia, Crowded maxillary incisors, Narrow palate, Tooth agenesis, Multiple unerupted teeth...	ORPHA:2063
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Pancytopenia, Cholangitis, Autoimmunity, Hypersplenism, Anti-thyroid peroxidase antibody positivi...	ORPHA:228426
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph...	OMIM:209885
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Gingival overgrowth, Narrow palate, Conical incisor, Oligodontia, Narr...	OMIM:235510
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulat...	ORPHA:226313
Autoimmune Hepatitis	Viral hepatitis, Liver kidney microsome type 1 antibody positivity, Glomerulonephritis, Antinucle...	ORPHA:2137
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Bardet-Biedl Syndrome 8	Renal dysplasia, Hypospadias, Obesity	OMIM:615985
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo...	OMIM:225500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Splenomegaly, Lymp...	OMIM:618495
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:613239
Focal Myositis	Myositis, Limitation of joint mobility, Elevated circulating creatine kinase concentration, Weigh...	ORPHA:48918
Eosinophilic Gastroenteritis	Allergic rhinitis, Elevated circulating C-reactive protein concentration, Atopic dermatitis, Weig...	ORPHA:2070
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Autoimmunity, Systemic lupus erythematosus, ...	ORPHA:90036
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Anorexia, Portal hypertension, Conj...	ORPHA:53035
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Autoimmunity, Myocardial infarct...	ORPHA:183
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max...	OMIM:211380
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe...	ORPHA:48104
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Ketonuria, Large for gestational age, Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutrop...	OMIM:614520
Neurooculocardiogenitourinary Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly	OMIM:618652
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Failure to thrive, Thromb...	OMIM:608104
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia	OMIM:235555
Lead Poisoning	Delayed eruption of teeth, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abno...	ORPHA:330015
X-Linked Intellectual Disability, Cabezas Type	Inguinal hernia, Broad-based gait, Hyperactivity, Camptodactyly of finger, Cachexia, Aggressive b...	ORPHA:85293
Ventilator-Induced Diaphragmatic Dysfunction	Severe infection, Hypothyroidism, Sepsis, Hypercapnia	ORPHA:505395
Eiken Syndrome	Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee...	OMIM:600002
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Splenomegaly, Thick lower lip vermilion, Hepatosplenomegaly, Macroglos...	OMIM:309900
Hennekam Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Splenomeg...	ORPHA:2136
Rothmund-Thomson Syndrome Type 2	Delayed eruption of teeth, Aplastic anemia, Abnormal dental enamel morphology, Abnormality of the...	ORPHA:221016
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites	ORPHA:2414
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney	OMIM:613091
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Autoimmunity, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of ...	ORPHA:33577
Endove Syndrome, Limb-Only Type	Neonatal sepsis, Umbilical hernia	OMIM:619217
Dubowitz Syndrome	Delayed eruption of teeth, Aplastic anemia, Micrognathia, Carious teeth, Velopharyngeal insuffici...	OMIM:223370
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Wei...	ORPHA:94080
Radiation Proctitis	Arteritis, Abnormality of connective tissue, Sepsis, Hematochezia	ORPHA:70475
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Chilblains, Vasculitis, Hepa...	OMIM:615846
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Urinary incontinence, Iron deficiency anemia, Decreased ...	OMIM:618885
Barth Syndrome	Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia	OMIM:302060
Cold Agglutinin Disease	Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Aplastic anemia, Abnormal dental enamel morphology, Abnormality of the...	ORPHA:221008
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Invasive parasitic i...	ORPHA:400
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Shallow a...	OMIM:242900
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaun...	OMIM:607765
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:98793
Cockayne Syndrome Type 1	Mandibular prognathia, Delayed eruption of primary teeth, Abnormality of the dentition, Widely sp...	ORPHA:90321
Thymic Neuroendocrine Tumor	Osteopenia, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm o...	ORPHA:97289
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Joint laxity, Macrocytic anemia, Join...	OMIM:250250
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro...	ORPHA:158048
Spondyloenchondrodysplasia	Delayed eruption of teeth, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia...	ORPHA:1855
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Thromboc...	ORPHA:824
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	EEG with parietal focal spikes, Short attention span, Hepatomegaly, Hypoglycemia, Cholelithiasis,...	OMIM:301066
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat...	OMIM:615630
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Long philtrum	ORPHA:263463
Bardet-Biedl Syndrome 2	Dilated cardiomyopathy, Diabetes mellitus, Hypogonadism, Obesity	OMIM:615981
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Acute lymphoblastic leukemia, T lymphocytopenia, Hy...	OMIM:208900
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:177904
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Enamel hypoplasia	OMIM:264700
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Recurrent respiratory infections, Premature pubarche, Hypogonadotropic hypogonadism, ...	ORPHA:398079
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h...	OMIM:613027
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Congenital hip dislocation, Aplastic anemia, Eczema, Joint ...	OMIM:617052
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:98754
Vexas Syndrome	Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,...	OMIM:301054
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:177901
Juvenile Dermatomyositis	Calcinosis, Bundle branch block, Myositis, Pericarditis, Skin rash, Elevated circulating creatine...	ORPHA:93672
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal ...	OMIM:252900
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Anorexia, Right ventricular...	ORPHA:100075
Cryptogenic Organizing Pneumonia	Cyanosis, Anorexia, Elevated circulating C-reactive protein concentration, Weight loss, Hypoxemia	ORPHA:1302
Alpha-N-Acetylgalactosaminidase Deficiency	Oligosacchariduria, Cardiomegaly	ORPHA:3137
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Hypercalcemia, Shortened QT interval, Primary hyperparathyroidism, Ost...	ORPHA:143
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar...	OMIM:618727
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Perry Syndrome	Akinesia, Frontotemporal dementia, Weight loss, Bradykinesia, Depression, Inappropriate behavior,...	OMIM:168605
Farber Lipogranulomatosis	Splenomegaly, Hepatomegaly, Lipogranulomatosis, Irritability	OMIM:228000
Polyarteritis Nodosa	Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Weight l...	ORPHA:767
Idiopathic Chronic Eosinophilic Pneumonia	Autoimmunity, Elevated circulating C-reactive protein concentration, Increased circulating IgE le...	ORPHA:2902
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri...	ORPHA:91139
Endocrine-Cerebroosteodysplasia	Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney	OMIM:612651
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Hypouricemia, Proteinuria, Large for gestational age, Nephrocalcinosis, Glycos...	OMIM:616026
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Overweight, Intrahe...	ORPHA:69663
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Elevated circulating creatine kinase concentration, Achilles tendon contracture, Obesity, Heart m...	OMIM:615418
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Limitation of movement at ankles, Short attention span, Broad-based gait, Hyperactivity, Ataxia, ...	ORPHA:98794
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Compulsive behaviors, Loss of ambulation, Dec...	ORPHA:2388
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Acute l...	ORPHA:289
Al Amyloidosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal EKG, Increased circulating NT-proBNP concentr...	ORPHA:85443
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Skin rash, Megaloblastic anemia, Anemia, Neutropenia, Stomatitis, Thrombocytopenia	OMIM:277380
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Painless fractures due to injury, Hepatocellular necrosis, Osteomyelitis leading to amputation du...	OMIM:256810
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Decreased serum leptin, Recurrent pneumonia, Flexion contracture...	OMIM:614098
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa...	OMIM:300990
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Oligodontia, Hypodontia	OMIM:601345
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Narrow palate, Cleft...	ORPHA:87
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Hepatic steatosis, Hyperactivity, Craniosynostosis, Precocious puberty, Hyp...	ORPHA:254346
Cleidocranial Dysplasia 1	Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup...	OMIM:119600
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocy...	ORPHA:90045
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Osteoglosphonic Dysplasia	Tooth agenesis, Multiple unerupted teeth, Micrognathia	ORPHA:2645
Beck-Fahrner Syndrome	Depression, Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiomegaly	OMIM:618798
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr...	ORPHA:370348
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Recurrent fractures, Increased circulating IgE level, Osteoporosis, Obes...	ORPHA:3409
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Alexander Disease Type I	Failure to thrive, Ataxia, Cachexia, Dysphagia	ORPHA:363717
Microphthalmia, Lenz Type	Delayed eruption of teeth, Abnormal dental morphology, Orofacial cleft, Abnormality of the dentition	ORPHA:568
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Pneumocystosis	Pneumocystis jirovecii pneumonia, Weight loss, Hypoxemia, Acute infectious pneumonia, Interstitia...	ORPHA:723
Diencephalic Syndrome	Abnormality of the hypothalamus-pituitary axis, Cachexia, Decreased body weight	ORPHA:1672
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Cachexia, Absence of subcutaneous fat, Corneal scarring, Ascites, ...	OMIM:610965
Behçet Disease	Myositis, Anorexia, Myocardial infarction, Pulmonary embolism, Meningitis, Infectious encephaliti...	ORPHA:117
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas...	OMIM:620138
Dubowitz Syndrome	Delayed eruption of teeth, Abnormality of neutrophils, Micrognathia, Abnormality of the dentition...	ORPHA:235
Kleefstra Syndrome Due To A Point Mutation	Inguinal hernia, Large for gestational age, Precocious puberty, Recurrent infections, Self-injuri...	ORPHA:261652
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Weight loss, Intracranial hemorrhag...	ORPHA:3226
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Osteomyelitis, Increased HDL cholesterol concentration, Elev...	ORPHA:70591
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Macroglossia...	OMIM:610253
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Irritability, Decreased serum zinc, Emotional lability	OMIM:201100
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure...	OMIM:154230
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Dental malocclusion,...	OMIM:101800
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto...	ORPHA:79102
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathia, Dentin...	OMIM:619269
Perry Syndrome	Depression, Dementia, Hypotension, Weight loss	ORPHA:178509
Pseudohypoparathyroidism Type 1C	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79444
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Depression, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glycogen...	OMIM:619259
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280785
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Hip contracture, Failure to thrive in infancy, Cachexia, Inability to walk	OMIM:616801
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Me...	ORPHA:91138
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Advanced eruption ...	OMIM:617865
White-Sutton Syndrome	Joint laxity, Waddling gait, Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavior,...	OMIM:616364
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card...	OMIM:614921
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Hypoplasia o...	OMIM:268400
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Broad-based gait, Ataxia, Dilated cardiomyopathy, Dysmetria, Gait ataxia, Weight loss, Depression...	OMIM:607459
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Ataxia, Elevated circulating creatine kinase concentration, ...	ORPHA:1933
Methylmalonic Aciduria, Cblb Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251110
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Renpenning Syndrome	Diabetes mellitus, Cachexia, Joint stiffness	ORPHA:3242
Tenorio Syndrome	Osteopenia, Joint laxity, Hypoglycemia, Raynaud phenomenon, Recurrent pneumonia, Keratoconjunctiv...	OMIM:616260
3-Methylglutaconic Aciduria, Type Viib	Flexion contracture, Recurrent pneumonia, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:616271
Autosomal Dominant Dopa-Responsive Dystonia	Progressive flexion contractures, Ataxia, Gait ataxia, Bradykinesia, Depression, Hypertension, Tr...	ORPHA:98808
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular hypertrophy, Pulmonic sten...	OMIM:616028
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Hypertrophic cardiomyopathy, Micropenis, As...	OMIM:616897
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, EEG abnormality, ...	ORPHA:371364
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Abnormal rena...	ORPHA:1655
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Coach Syndrome 1	Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Abnormal abdomen morphology, Spleno...	OMIM:216360
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Irregular ossification...	OMIM:260400
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia, Joint stiffness	ORPHA:1216
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Hypospadias, Obesity, Nephropathy, Nephroblastoma	OMIM:194072
Gerstmann-Straussler Disease	Aggressive behavior, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Depression, Dementia, E...	OMIM:137440
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:615577
Isolated Permanent Neonatal Diabetes Mellitus	Prominent metopic ridge, Neonatal insulin-dependent diabetes mellitus, Ataxia, Autoimmune antibod...	ORPHA:99885
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Micronodular cirrhosis, ...	OMIM:606003
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph...	OMIM:235255
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Dysphagia, Weight loss, Abnormal liver parenchyma morphology, Pheoch...	ORPHA:1332
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Dysmetria, Supr...	OMIM:620185
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Pituitary adenoma, Osteoporosis, Obesity, Increased circulating ACTH ...	OMIM:219090
Moynahan Syndrome	Hypogonadism, Cachexia	ORPHA:2574
Fanconi Anemia, Complementation Group I	Fused cervical vertebrae, Neutropenia	OMIM:609053
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, We...	ORPHA:103910
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Splenomegaly, Gingival overgrowth, Alveolar ridge overgrowth, Widely s...	OMIM:301072
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Glomerulonephritis, Decreased glomerular filtration rate, Leukocytosis, Chro...	ORPHA:340
Juvenile Amyotrophic Lateral Sclerosis	Ataxia, Cachexia, Inability to walk, Upper-limb joint contracture, Lower-limb joint contracture, ...	ORPHA:300605
Thymoma	Myositis, Autoimmunity, Glomerulonephritis, Anti-acetylcholine receptor antibody positivity, Ulce...	ORPHA:99867
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell...	ORPHA:2234
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Osteochondrosis, Bone cyst, Osteolysis	ORPHA:2396
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hyperactivity, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal ...	OMIM:252930
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Thin vermili...	OMIM:601812
Methylmalonic Acidemia With Homocystinuria Type Cblf	Skin rash, Neutropenia, Stomatitis, Megaloblastic anemia	ORPHA:79284
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri...	ORPHA:822
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Dental crowding, Persistence of primary teeth	OMIM:619769
Refractory Celiac Disease	Elevated hepatic transaminase, Inflammatory abnormality of the skin, Autoimmune antibody positivi...	ORPHA:398063
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Myoc...	ORPHA:54595
Hereditary Late-Onset Parkinson Disease	Akinesia, Impulsivity, Weight loss, Bradykinesia, Depression, Dementia, Agitation, Shuffling gait...	ORPHA:411602
Infantile Krabbe Disease	Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Cachexia, Progressive ...	ORPHA:206436
Woodhouse-Sakati Syndrome	Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistan...	ORPHA:3464
Incontinentia Pigmenti	Delayed eruption of teeth, Eosinophilia, Conical tooth, Leukocytosis, Oligodontia, Hypodontia	OMIM:308300
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Macrocytic anemia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmu...	ORPHA:227990
Rett Syndrome	Cachexia, Gait apraxia, Bruxism, Gait ataxia, EEG abnormality, Truncal ataxia, Abnormal T-wave, M...	OMIM:312750
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Arterial Calcification, Generalized, Of Infancy, 1	Hypophosphatemic rickets, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly	OMIM:208000
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft upper lip, High, narrow ...	OMIM:122470
Robinow Syndrome, Autosomal Dominant 1	Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Mic...	OMIM:180700
Granulomatosis With Polyangiitis	Sinusitis, Elevated circulating C-reactive protein concentration, Otitis media, Chronic otitis me...	ORPHA:900
Genitopatellar Syndrome	Delayed eruption of teeth, Long philtrum, Micrognathia	ORPHA:85201
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Xq28 (MECP2) duplication	Decreased circulating IgA level	DECIPHER:45
Angelman Syndrome Due To A Point Mutation	Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, EEG abnormality, G...	ORPHA:411511
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Elevated circulating creatine kinase concentration, Cardiomegaly, Pollakisuria, Dysphagia, Right ...	ORPHA:268
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia...	OMIM:618620
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Ce...	OMIM:602782
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Delayed eruption of teeth, Splenomegaly, Gingival overgrowth, Gingival fib...	OMIM:135500
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Joint contracture, Hip dislocation, Neutropenia	OMIM:618005
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal c...	OMIM:620306
3-Methylglutaconic Aciduria Type 7	Infection associated neutropenia, Neutropenia	ORPHA:445038
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Anemia	OMIM:618107
Pachyonychia Congenita	Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia	ORPHA:2309
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Hepatic bridging fibrosis, Hep...	OMIM:618641
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash,...	ORPHA:95455
Trisomy 9P	Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth	ORPHA:236
Pmm2-Cdg	Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent...	ORPHA:79318
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Delayed eruption of permanent teeth, Tented upper lip vermilion, Short phi...	ORPHA:521445
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia	OMIM:618426
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enamel hypoplasia	ORPHA:289157
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Liver abscess, Elevated circulating C-reactive prot...	ORPHA:54251
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Atrial septal defect, Ventricular septal defect, Hypospadias, Splenomegaly, Renal c...	OMIM:312870
Kaposi Sarcoma	Recurrent herpes, Skin rash, Abnormality of the spleen, Weight loss, Abnormality of the liver	ORPHA:33276
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenome...	OMIM:251880
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Omphalocele, Umbilical hernia, Sepsis	ORPHA:2241
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Hypoglycemia, Angina pectoris, Cachexia, Telangiectasia, Intracra...	ORPHA:109
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Hypercalcemia, Splenomegaly, Hypercalciuria, Mucopolysacchariduria,...	OMIM:618440
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati...	OMIM:200990
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Impulsivity, Aggressive behavior, Overweight, Flexion contracture, Obsessive-compulsive trait, Hy...	ORPHA:500055
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Dental malocclusion, Cleft palate, Narrow palat...	OMIM:101200
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail...	ORPHA:75566
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Panniculitis, Weight loss	ORPHA:86884
Syndromic Diarrhea	Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m...	ORPHA:84064
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Diabetes melli...	ORPHA:412
Barber-Say Syndrome	Delayed eruption of teeth, Wide mouth	ORPHA:1231
Adiposis Dolorosa	Recurrent skin infections, Autoimmunity, Telangiectasia of the skin, Obesity, Depression, Arthrit...	ORPHA:36397
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw...	ORPHA:404443
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hyperthyroidism, Weight loss, Hypokalemia, Palpitations, Goiter	OMIM:188580
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia, Joint stiffness	ORPHA:1144
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Mosaic Variegated Aneuploidy Syndrome	Osteolysis, Cleft palate, Micrognathia	ORPHA:1052
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l...	ORPHA:369950
Sotos Syndrome	Joint laxity, Tall stature, Aggressive behavior, Increased body weight, Genu valgum, Glucose into...	OMIM:117550
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Macrocytic anemia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmu...	ORPHA:227982
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper...	ORPHA:508533
Alveolar Echinococcosis	Liver abscess, Ataxia, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery mor...	ORPHA:284
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I...	OMIM:223900
Multiple Pterygium-Malignant Hyperthermia Syndrome	Exaggerated cupid's bow, Narrow mouth, Abnormal mandible morphology, Cleft palate, Downturned cor...	ORPHA:2215
Robinow Syndrome, Autosomal Recessive 1	Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Micrognathia, Bifid tongue...	OMIM:268310
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Cleft lip, Thick lower lip vermilion, Cleft palate, Acute lymphoblasti...	OMIM:280000
Myasthenia Gravis	Hemolytic anemia, Myositis, Pure red cell aplasia, Anti-acetylcholine receptor antibody positivit...	ORPHA:589
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias...	OMIM:611881
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Limb joint contracture, Cachexia, Flexion contracture,...	OMIM:618186
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Polyendocrine-Polyneuropathy Syndrome	Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Ataxia, Postnatal gro...	ORPHA:453533
Fanconi Anemia, Complementation Group C	Pancytopenia, Flexion contracture, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytop...	OMIM:227645
Robinow Syndrome	Dental crowding, Persistence of primary teeth, Micrognathia, Dental malocclusion, Gingival overgr...	ORPHA:97360
Pseudopseudohypoparathyroidism	Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulating parathyroid...	ORPHA:79445
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft palate, Thick upper lip ...	OMIM:247200
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly	OMIM:268800
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Inflammatory abnor...	ORPHA:391487
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia	ORPHA:66518
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Short philtrum, Cleft palate	OMIM:617337
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Osteoporosis, Obesity, Absence of pubertal deve...	OMIM:610628
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ...	ORPHA:37553
Pearson Syndrome	Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytos...	ORPHA:699
Pelizaeus-Merzbacher Disease	Recurrent respiratory infections, Failure to thrive in infancy, Ataxia, Cachexia, Joint stiffness...	ORPHA:702
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Obesity, Weight loss, Attention deficit hyperactivity disorder, ...	ORPHA:251071
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I...	OMIM:620040
Pachyonychia Congenita 2	Oral leukoplakia, Natal tooth, Angular cheilitis	OMIM:167210
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Multicentric Osteolysis, Nodulosis, And Arthropathy	Hypoplasia of the maxilla, Delayed eruption of teeth, Gingival overgrowth, Micrognathia	OMIM:259600
Sézary Syndrome	Splenomegaly, Abnormal lymphocyte morphology, Abnormal immunoglobulin level	ORPHA:3162
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Dysphagia, Ascite...	OMIM:608013
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Eruption failure, Hi...	OMIM:166250
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, EEG with abnormally slow frequencies, Inability to walk, Recurrent pneumonia, El...	OMIM:618493
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma...	ORPHA:2751
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom...	ORPHA:324410
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M...	ORPHA:309854
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Anorexia, Jaundice, ...	ORPHA:1333
Trichothiodystrophy	Osteopenia, Congenital exfoliative erythroderma, Increased bone mineral density, Multiple joint c...	ORPHA:33364
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri...	ORPHA:308552
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Obesity, Nephronophthisis	OMIM:616629
Methylmalonic Aciduria, Cbla Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251100
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Recurrent pneumo...	OMIM:619644
Hypothyroidism, Central, With Testicular Enlargement	Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra...	OMIM:300888
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Shwachman-Diamond Syndrome 2	Normocytic anemia, Genu varum, Thrombocytopenia, Neutropenia	OMIM:617941
X-Linked Creatine Transporter Deficiency	Hyperactivity, Ataxia, Cachexia, Abnormal circulating creatine concentration, Athetosis, Joint hy...	ORPHA:52503
Saul-Wilson Syndrome	Madelung deformity, Neutropenia	OMIM:618150
Cystic Fibrosis	Osteopenia, Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurr...	ORPHA:586
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca...	OMIM:300257
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Narrow mouth, Lon...	ORPHA:77301
De Barsy Syndrome	Delayed eruption of teeth, Small, conical teeth, High palate, Narrow mouth	ORPHA:2962
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Cardiac arrest, Pustule, Myocard...	ORPHA:139402
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Overweight, Dilated cardiomyopathy, Renovascular hypertension, Type II diab...	ORPHA:401923
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Angina pectoris, Myocardial infarction, Overweight, Sple...	ORPHA:90041
Hypermobile Ehlers-Danlos Syndrome	Abnormality of the dentition, Osteoarthritis, Limitation of joint mobility, Abnormality of the gi...	ORPHA:285
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Recurrent mycobacterial infections, Bronchiectasis, Recurrent...	ORPHA:244
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Perrault Syndrome 4	Increased circulating gonadotropin level, Osteoporosis, Obesity, Gait ataxia, Disproportionate ta...	OMIM:615300
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Anemia	OMIM:620296
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Dental crowding, Micrognathia, Long philtrum	OMIM:145420
Wilson Disease	Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbuminemia, Hepatic steato...	OMIM:277900
Wild Type Attr Amyloidosis	Hepatomegaly, Abnormal EKG, Myocardial infarction, Congestive heart failure, Weight loss, Bradyca...	ORPHA:330001
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Micrognathia	OMIM:616901
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Thrombocytopenia 1	Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,...	OMIM:313900
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral...	OMIM:301068
Pediatric-Onset Graves Disease	Episcleritis, Autoimmunity, Craniosynostosis, Keratitis, Splenomegaly, Anti-thyroid peroxidase an...	ORPHA:525731
Ataxia-Oculomotor Apraxia 4	Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Cognitive...	OMIM:616267
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Punctate ke...	OMIM:557000
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Micrognathia	OMIM:617802
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Flexion contracture, Bone cyst, Osteolysis, Abnormal palate morphology	ORPHA:3042
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Autoimmunity, Myocard...	ORPHA:221
Anaplastic Thyroid Carcinoma	Weight loss, Anaplastic thyroid carcinoma, Dysphagia, Nodular goiter, Goiter	ORPHA:142
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Renal tubular epithelia...	ORPHA:91500
Fucosidosis	Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
8P Inverted Duplication/Deletion Syndrome	Micrognathia, High, narrow palate, Abnormality of dental eruption, Wide mouth, Everted lower lip ...	ORPHA:96092
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Biliary hyperplasia, Hyperlipid...	ORPHA:567983
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Thrombocy...	OMIM:230800
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup...	ORPHA:99103
Allergic Bronchopulmonary Aspergillosis	Pulmonary arterial hypertension, Bronchiectasis, Weight loss	ORPHA:1164
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Deep philtrum, High palate, Open mouth, Retrognathia	ORPHA:1675
Camurati-Engelmann Disease	Waddling gait, Hepatomegaly, Ataxia, Cachexia, Anorexia, Splenomegaly, Abnormal subcutaneous fat ...	ORPHA:1328
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth, Neutropenia	OMIM:617799
Cronkhite-Canada Syndrome	Splenomegaly, Hepatomegaly, Cachexia, Anorexia	ORPHA:2930
Cockayne Syndrome	Congenital contracture, Progressive gait ataxia, Hepatomegaly, Ataxia, Contractures of the large ...	ORPHA:191
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Enamel hypoplasia	ORPHA:94089
Smith-Kingsmore Syndrome	Thrombocytopenia, Decreased circulating IgA level	OMIM:616638
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Chronic gast...	OMIM:301074
Acrocraniofacial Dysostosis	Advanced eruption of teeth, Short philtrum, Cleft palate, Micrognathia	ORPHA:949
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hip contracture, Flexion contracture of finger, Congenital hip ...	ORPHA:2020
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Neutropenia, Microcytic anemia	OMIM:251900
Trichohepatoenteric Syndrome 1	Hepatomegaly, Ventricular septal defect, Hypospadias, Increased mean platelet volume, Abnormality...	OMIM:222470
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Cerebral hemorrhage...	ORPHA:276621
Hereditary Xanthinuria	Arthropathy, Hypouricemia, Gout, Hyperxanthinemia, Rheumatoid arthritis	ORPHA:3467
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos...	OMIM:616084
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Chronic pan...	ORPHA:98908
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Cyanosis, Autoimmune antibody positivity, Intraalveol...	ORPHA:747
Glossopharyngeal Neuralgia	Autoimmunity, Oral-pharyngeal dysphagia, Jaw claudication, Depression, Weight loss, Syncope, Brad...	ORPHA:221098
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ...	ORPHA:131
Inflammatory Bowel Disease (Crohn Disease) 1	Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatit...	OMIM:266600
Raine Syndrome	Mandibular prognathia, Natal tooth, Micrognathia, Protruding tongue, Gingival overgrowth, Cleft p...	OMIM:259775
Carpenter Syndrome 1	Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Agenesis of permanent teet...	OMIM:201000
Tsh-Secreting Pituitary Adenoma	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy...	ORPHA:91347
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S...	OMIM:610199
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Skin rash, Ataxia, Elevated circulating C-reactive p...	ORPHA:50918
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa...	ORPHA:75565
Mucopolysaccharidosis Type 3	Hepatomegaly, Hyperactivity, Cardiomegaly, Adenoiditis, Splenomegaly, Heparan sulfate excretion i...	ORPHA:581
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Recurrent respiratory infections, Cachexia	ORPHA:1389
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Waddling gait, Enlargement of the ankles, Multiple joint contractures, Abnormal joint morphology,...	ORPHA:99646
Cohen Syndrome	Cubitus valgus, Joint hyperflexibility, Genu valgum, Neutropenia	ORPHA:193
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V...	ORPHA:565612
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Self-injurious behavior, Increased body weight, Aggressive behavior	OMIM:300860
Hereditary Pheochromocytoma-Paraganglioma	Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, H...	ORPHA:29072
Wolman Disease	Hepatomegaly, Adrenal calcification, Cachexia, Splenomegaly, Ascites, Adrenal insufficiency, Hepa...	ORPHA:75233
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Weight loss, Arthritis, Keratoconj...	OMIM:617321
Mogs-Cdg	Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating total IgM, Decrea...	ORPHA:79330
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Abnormality of the dentition, Micrognathia, Eruption failure, High palate, Long ...	ORPHA:476126
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Otitis media, Compulsive behaviors, Abnormal repetitive mannerisms, Joint laxity, Hyperactivity, ...	ORPHA:353281
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Wrist flexion contracture, Increased bone min...	ORPHA:800
Hermansky-Pudlak Syndrome 10	Splenomegaly, Neutropenia	OMIM:617050
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Splenomegaly, Macroglossia, Carious teeth	OMIM:253200
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased...	OMIM:612301
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Leukocytosis, Joint swelling, Increased proportion of CD4-positive T cel...	OMIM:617099
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hypospadias, Vesicovaginal fistula, Hyperkalemia, Horseshoe kidney, Chordee, Microp...	OMIM:201750
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Kabuki Syndrome 2	Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palate, High palate, Hypodontia	OMIM:300867
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem...	OMIM:608885
Pulmonary Non-Tuberculous Mycobacterial Infection	Mycobacterium abscessus abscessus infection, Disseminated nontuberculous mycobacterial infection,...	ORPHA:411703
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Genu valgum, Delayed ossification of carpal bones, Neutropenia, Laryngotracheomalacia...	OMIM:271510
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Small for gestational age, Large for gestational age, Postnatal growth retardation, ...	ORPHA:254534
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Neutropenia	OMIM:615471
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv...	ORPHA:79126
African Trypanosomiasis	Choreoathetosis, Conjunctivitis, Iritis, Delirium, Hepatomegaly, Abnormal EKG, Abnormality of the...	ORPHA:3385
Leigh Syndrome	Multiple joint contractures, Eczema, Anemia, Neutropenia	ORPHA:506
Mcdonough Syndrome	Cachexia	ORPHA:2471
Osteootohepatoenteric Syndrome	Recurrent fractures, Microvesicular hepatic steatosis, Cholestasis, Reduced bone mineral density,...	OMIM:619377
Fatal Familial Insomnia	Dementia, Ataxia, Dysphagia, Weight loss	OMIM:600072
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Au...	ORPHA:424
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Congestive heart failure, Weight loss, Hypoalbumine...	ORPHA:67
Hallermann-Streiff Syndrome	Natal tooth, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernumerary tooth, De...	OMIM:234100
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal...	OMIM:619755
Glycogen Storage Disease Ic	Cyclic neutropenia, Chronic pancreatitis, Gout, Inflammation of the large intestine, Stomatitis	OMIM:232240
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity	OMIM:264120
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Cyanosis, Left-to-right shunt, Pneumonia, Abnormally loud pulmonic component...	ORPHA:99104
Acute Monoblastic/Monocytic Leukemia	Central hypothyroidism, Ankle swelling, Anorexia, Weight loss	ORPHA:514
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Abnormal heart valve...	ORPHA:77293
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Otopalatodigital Syndrome, Type I	Selective tooth agenesis, Absent frontal sinuses, Cleft palate, Multiple impacted teeth, Narrow m...	OMIM:311300
Congenital Tufting Enteropathy	Weight loss, Arthritis, Cholestatic liver disease, Irritability, Punctate keratitis, Failure to t...	ORPHA:92050
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Micrognathia, Persistence of primary teeth, Abnormality of the dentition, Thick low...	ORPHA:2785
Codas Syndrome	Delayed eruption of teeth, Enamel hypoplasia	OMIM:600373
Lethal Congenital Contracture Syndrome 10	Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly	OMIM:617022
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Cleft palate, Tooth malposition	OMIM:309350
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Weight loss, As...	ORPHA:83469
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Oromandibular Dystonia	Depression, Bruxism, Dysphagia, Weight loss	ORPHA:93958
Khan-Khan-Katsanis Syndrome	Delayed closure of the anterior fontanelle, Neutropenia, Joint contracture, Lymphopenia, Anemia	OMIM:618460
Autosomal Recessive Spastic Paraplegia Type 11	Short attention span, Orthostatic hypotension, Ataxia, Overweight, Inability to walk, Obesity, Em...	ORPHA:2822
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Micronodular cirrhosis...	ORPHA:98907
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har...	OMIM:300166
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Osteogenesis Imperfecta	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Abnorm...	ORPHA:666
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Cockayne Syndrome A	Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Splenomegaly, Dental mal...	OMIM:216400
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Ataxia, Elevated circulating creatine kinase concentration, Hyper...	OMIM:164310
Doors Syndrome	Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentition, Thick lower lip v...	ORPHA:79500
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ...	ORPHA:2769
Chromosome 15Q11.2 Deletion Syndrome	Ataxia, Elbow contracture, Abnormal repetitive mannerisms, Diminished ability to concentrate, Com...	OMIM:615656
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocyto...	ORPHA:14
Bardet-Biedl Syndrome 6	Hypospadias, Obesity, Renal cyst	OMIM:605231
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Micrognathia, Abnormality of the gingiva, Wide mouth, Macroglossia, Sh...	ORPHA:798
Isolated Biliary Atresia	Hepatomegaly, Dark yellow urine, Conjugated hyperbilirubinemia, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia	ORPHA:1438
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Narrow palate	OMIM:266270
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosaccharid...	OMIM:230000
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Broad...	ORPHA:1465
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym...	OMIM:603041
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Cachexia, Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Cartilage-Hair Hypoplasia	Abnormally ossified vertebrae, Neutropenia, Joint hyperflexibility, Abnormal bone ossification, L...	ORPHA:175
Fgfr2-Related Bent Bone Dysplasia	Natal tooth, Extramedullary hematopoiesis, Micrognathia, Gingival overgrowth, Hepatosplenomegaly	ORPHA:313855
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Urinary incontinence, Cardiomegaly	OMIM:105210
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth	OMIM:300952
Familial Gestational Hyperthyroidism	Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Autoimmune antibody positivit...	ORPHA:99819
Thymic Carcinoma	Neoplasm of the thymus, Weight loss	ORPHA:99868
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Recurrent respiratory infections, Inguinal hernia, Episcleritis, Abnormal dental ena...	ORPHA:2273
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Weight loss	OMIM:191390
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup...	OMIM:614188
Vascular Ehlers-Danlos Syndrome	Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, High, narrow palate...	ORPHA:286
Cockayne Syndrome B	Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Splenomegaly, Dental mal...	OMIM:133540
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Hypoxemia, Bronchiectasis, Weight loss	ORPHA:79127
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot...	ORPHA:90363
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Tricuspid stenosis, Right ventricular failure, Arterial occlusion,...	ORPHA:100078
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hypersplenism, Splenomegaly, Pancytopenia, Decreased circulating IgA level	OMIM:613385
Fanconi Anemia, Complementation Group D2	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227646
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:607143
Currarino Syndrome	Perianal abscess, Recurrent urinary tract infections, Sepsis	OMIM:176450
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Nephroblastoma, Renal hypoplasia	OMIM:612918
Acrodermatitis Enteropathica	Anorexia, Pustule, Cheilitis, Weight loss, Conjunctivitis, Emotional lability, Failure to thrive,...	ORPHA:37
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent respiratory infections, Short attention span, Overweight, Head-banging, Hematochezia, S...	OMIM:619575
Castleman Disease	Increased circulating interleukin 6 concentration, Abdominal mass, Elevated circulating C-reactiv...	ORPHA:160
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Cyanosis, Right ventricular failure, Abnormal circulating calcium concentration, In...	ORPHA:60025
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Natal tooth, Micrognathia, Hypoplastic facial bones, Downturned corner...	OMIM:264090
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Keratitis, Weight loss, Smooth muscle antibody positivity, Aspi...	ORPHA:1018
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Hamartoma of tongue, Cleft lip, Hypoplastic facial bones, Cleft p...	OMIM:616300
Gallbladder Neuroendocrine Tumor	Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis, Weight loss, Intermittent jaundice, C...	ORPHA:100086
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Anorexia, Iridocyclitis, Splenomegaly, Bronchiectasis, Uveitis, Weight loss, Hypoxe...	OMIM:181000
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple...	OMIM:222700
Hartsfield Syndrome	Micropenis, Hypernatremia, Hypospadias	OMIM:615465
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Paranasal sinus hypoplasia, Dental crowding, Micrognathia, Cleft upper lip, Craniofa...	OMIM:300373
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Increased bod...	ORPHA:244242
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth	OMIM:609638
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Arthritis...	OMIM:260920
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Weight loss	ORPHA:312
Diamond-Blackfan Anemia 1	Macrocytic anemia, Delayed cranial suture closure, Congenital hypoplastic anemia, Reticulocytopen...	OMIM:105650
Malignant Peritoneal Mesothelioma	Peritonitis, Ascites, Weight loss	ORPHA:168811
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ...	ORPHA:405
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Abnormality of the dentition	ORPHA:2036
Systemic Capillary Leak Syndrome	Pericarditis, Myocarditis, Weight loss, Hypotension, Arrhythmia, Pancreatitis	ORPHA:188
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Sepsis	OMIM:619362
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Splenomegaly, Premature loss of primary teeth, Anemia	ORPHA:667
Hallermann-Streiff Syndrome	Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth...	ORPHA:2108
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Gingival overgrowth, Narrow palate, High palate, Narrow mouth, Malar flattening, Bif...	OMIM:123790
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J...	ORPHA:103918
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Decreased circulating ...	OMIM:620005
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Neuroblastoma, Susceptibility To, 1	Ataxia, Abdominal mass, Weight loss, Hypertension, Failure to thrive	OMIM:256700
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Weight loss	ORPHA:133
Acquired Central Diabetes Insipidus	Polydipsia, Diabetes insipidus, Weight loss	ORPHA:95626
19Q13.11 Microdeletion Syndrome	Congenital hip dislocation, Recurrent respiratory infections, Failure to thrive, Cachexia	ORPHA:217346
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Tooth abscess	ORPHA:289176
Acquired Hypertrichosis Lanuginosa	Weight loss	ORPHA:2221
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc...	OMIM:251260
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Thalidomide Embryopathy	Insulin resistance, Chronic rhinitis	ORPHA:3312
Cap Polyposis	Hematochezia, Atrophic gastritis, Weight loss	ORPHA:160148
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Osteopenia, Recurrent respiratory infections, Elevated hepatic transaminase, Diabetes mellitus, E...	OMIM:614231
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Stomatitis, Neutropenia, Thrombocytopenia, Megaloblastic anemia	ORPHA:79282
Bloom Syndrome	Elevated hemoglobin A1c, Decreased circulating total IgM, Leukemia, Decreased circulating IgG lev...	OMIM:210900
Meningioma	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th...	ORPHA:2495
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Otitis media, Compulsive behaviors, Abnormal repetitive mannerisms, Joint laxity, Hyperactivity, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Otitis media, Compulsive behaviors, Abnormal repetitive mannerisms, Joint laxity, Hyperactivity, ...	ORPHA:353277
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly, Nephrocalcinosis	ORPHA:53715
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Renal insufficiency, Elevated circulating creatine kinase concentra...	ORPHA:99826
17Q11 Microdeletion Syndrome	Osteopenia, Osteoporosis, Osteolysis, Abnormality of the sphenoid sinus, Thickened cortex of long...	ORPHA:97685
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hemolytic anemia, Thin upper lip vermilion, Delayed eruption of teeth, Den...	OMIM:619503
Yellow Fever	Renal insufficiency, Neutrophilia, Anuria, Elevated circulating creatine kinase concentration, Le...	ORPHA:99829
Hennekam-Beemer Syndrome	Mastocytosis, Thick lower lip vermilion, High palate, Micrognathia	ORPHA:2135
Digeorge Syndrome	Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hepat...	OMIM:188400
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Inappropriate laughter, Cardiomegaly	OMIM:618143
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Short dental root, Hypoplasia of the nasal bone,...	ORPHA:93357
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Coffin-Siris Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Conical tooth, Thick lower lip vermilion, Cl...	OMIM:135900
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst	OMIM:617478
Sarcoidosis	Heart block, Ventricular tachycardia, Uveitis, Tubulointerstitial nephritis, Hypothyroidism, Hepa...	ORPHA:797
X-Linked Intellectual Disability, Nascimento Type	Lower extremity joint dislocation, Recurrent cutaneous abscess formation, Neutropenia	ORPHA:163956
Nephroblastoma	Neoplasm of the liver, Hypertension, Weight loss	ORPHA:654
Familial Adenomatous Polyposis 1	Eruption failure, Supernumerary tooth, Carious teeth, Odontoma	OMIM:175100
Igg4-Related Submandibular Gland Disease	Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul...	ORPHA:449432
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level	ORPHA:457485
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Cachexia, Hematochezia, Melena, Intestinal bleeding, Hypoalbuminemia...	ORPHA:79076
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Carious teeth, High palate, Long philtrum, Microdon...	OMIM:278250
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Glucose intolerance, Early onset of sexual maturation, Hypothyro...	OMIM:194050
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Cytoplasmic antineutrophil antib...	OMIM:608710
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal thymus morphology, Cardiomegaly	ORPHA:2463
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Delayed eruption of teeth, High palate, Widely spaced teeth, Long philtrum, Microdontia	OMIM:143095
Williams Syndrome	Osteopenia, Elevated circulating creatine kinase concentration, Myocardial infarction, Cardiomega...	ORPHA:904
Familial Mediterranean Fever	Pericarditis, Proteinuria, Splenomegaly, Peritonitis, Lymphadenopathy, Nephrocalcinosis, Nephroti...	ORPHA:342
Gapo Syndrome	Micrognathia, High, narrow palate, Thick lower lip vermilion, Eruption failure, Long philtrum	OMIM:230740
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Anorexia, Urinary bladder inflammation, Flexion contrac...	ORPHA:99921
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Weig...	ORPHA:679
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr...	ORPHA:1677
Charge Syndrome	Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Cleft palate, Hypopl...	ORPHA:138
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit...	ORPHA:2250
Focal Dermal Hypoplasia	Delayed eruption of teeth, Cleft upper lip, Dental malocclusion, Cleft palate, Oligodontia, Hypod...	OMIM:305600
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Left ventricula...	OMIM:245600
Smith-Lemli-Opitz Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Supernumerary tooth,...	ORPHA:818
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri...	ORPHA:365
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Obesity, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, A...	ORPHA:209902
Wrinkly Skin Syndrome	Delayed eruption of teeth, Carious teeth, High palate, Small, conical teeth, Smooth philtrum, Lon...	ORPHA:2834
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Abnormal dental enamel morphology, Anorexia, Epistaxis, Weight loss,...	ORPHA:79430
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Dementia, Weight loss	OMIM:605543
Fryns-Smeets-Thiry Syndrome	Cachexia, Patellar aplasia, Hip dislocation, Joint hyperflexibility, Disproportionate tall stature	ORPHA:2058
Stickler Syndrome	Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Open...	ORPHA:828
Marfan Syndrome	Osteopenia, Inguinal hernia, Arthralgia/arthritis, Protrusio acetabuli, Cachexia, Limited elbow m...	ORPHA:558
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu...	ORPHA:79078
Cornelia De Lange Syndrome	Delayed eruption of teeth, Micrognathia, Cleft palate, Downturned corners of mouth, Thin vermilio...	ORPHA:199
Congenital Disorder Of Glycosylation, Type Ia	Thrombocytosis, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:212065
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Calvarial osteosclerosis, Anemia, Persistence of primary teeth	ORPHA:93325
Short-Rib Thoracic Dysplasia 12	Natal tooth, Median cleft lip, Hamartoma of tongue, Splenomegaly, Lobulated tongue, Median cleft ...	OMIM:269860
Reynolds Syndrome	Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Hyperbilirubine...	OMIM:613471
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenomegaly, Chronic lymphatic leukemi...	ORPHA:51
Congenital Tricuspid Stenosis	Rheumatoid arthritis, Bacterial endocarditis	ORPHA:95459
Opitz Gbbb Syndrome	Natal tooth, Micrognathia, Cleft lip, Cleft palate, High palate, Hypodontia, Long philtrum, Ankyl...	ORPHA:2745
Perlman Syndrome	Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, Pancreatic islet-cell h...	OMIM:267000
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Dysphagia, Paraganglioma, Weight loss	ORPHA:97286
Pitt-Hopkins Syndrome	Wide mouth, Thick vermilion border, Short philtrum, Failure of eruption of permanent teeth, Tooth...	ORPHA:2896
Fanconi Anemia	Recurrent urinary tract infections, Hip dislocation, Reduced bone mineral density, Weight loss, A...	ORPHA:84
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivity, Cardiomega...	OMIM:300967
Blomstrand Lethal Chondrodysplasia	Natal tooth, Protruding tongue, Micrognathia, Long philtrum, Malar flattening	ORPHA:50945
Liposarcoma	Weight loss	ORPHA:69078
Pruritic Urticarial Papules And Plaques Of Pregnancy	Eczematoid dermatitis, Increased body weight	ORPHA:64745
Seckel Syndrome	Abnormal dental enamel morphology, Craniosynostosis, Cachexia, Joint hyperflexibility, Cognitive ...	ORPHA:808
Trisomy 18	Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Hernia, Cognitiv...	ORPHA:3380
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Neutrophilia, Eosinophilia, Cholangitis, Ankle swelling, Ec...	ORPHA:3260
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss	ORPHA:99978
Pseudoaminopterin Syndrome	Sagittal craniosynostosis, Micrognathia, Limited elbow movement, Orofacial cleft, High palate, Sh...	ORPHA:221120
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Cachexia	ORPHA:93941
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ...	OMIM:619534
Carney Complex	Neoplasm of the pancreas, Euthyroid multinodular goiter, Dorsocervical fat pad, Follicular thyroi...	ORPHA:1359
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Hepatic calcifica...	ORPHA:51608
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Renal cyst, Cardiomegaly	ORPHA:137675
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Proteus Syndrome	Thymus hyperplasia, Abnormal dental enamel morphology, Cachexia, Joint stiffness, Craniosynostosi...	ORPHA:744
Bohring-Opitz Syndrome	Nephroblastoma, Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention, Cholelithias...	ORPHA:97297
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Obesity, Cystic renal dysplasia	OMIM:615989
Primary Fanconi Renotubular Syndrome	Hypouricemia, Hypoglycemia, Osteomalacia, Bicarbonaturia, Weight loss, Hypophosphatemia, Glycosur...	ORPHA:3337
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Aplasia of the thymus, Micrognathia, Cario...	OMIM:620186
Gardner Syndrome	Odontoma, Multiple unerupted teeth, Supernumerary tooth, Abnormality of the dentition	ORPHA:79665
Malt Lymphoma	Abnormality of the thyroid gland, Recurrent respiratory infections, Posterior uveitis, Weight loss	ORPHA:52417
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent respiratory infections...	ORPHA:647
Adnp Syndrome	Advanced eruption of teeth, Thin upper lip vermilion, Thick lower lip vermilion, Smooth philtrum	ORPHA:404448
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Elevated circulating...	OMIM:256040
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Familial Thrombocytosis	Transient ischemic attack, Splenomegaly, Weight loss, Syncope, Cerebral ischemia, Pulmonary arter...	ORPHA:71493
Pallister-Hall Syndrome	Natal tooth, Microglossia, Cleft palate, Cleft upper lip	OMIM:146510
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, As...	ORPHA:261537
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Cleft palate	OMIM:617925
Mowat-Wilson Syndrome	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, As...	ORPHA:2152
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Broad-based gait, Cachexia, Abnormality of the spleen, Splenome...	ORPHA:2072
Pancreatoblastoma	Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Weight loss	ORPHA:677
Familial Adenomatous Polyposis	Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Abnormal cementum ...	ORPHA:733
Meckel Syndrome, Type 1	Accessory spleen, Thin upper lip vermilion, Natal tooth, Micrognathia, Asplenia, Splenomegaly, Cl...	OMIM:249000
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus	OMIM:618223
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, As...	ORPHA:261552
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious...	OMIM:149730
Mowat-Wilson Syndrome	Delayed eruption of teeth, Submucous cleft hard palate, Cleft palate, Widely spaced teeth, Tooth ...	OMIM:235730
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth...	OMIM:615948
Aspartylglucosaminuria	Joint laxity, Acne, Vacuolated lymphocytes, Neutropenia, Pathologic fracture	OMIM:208400
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of the thyroid gland, Anorexia, Cachexia, Genu varum	ORPHA:1969
Monosomy 18Q	Decreased circulating IgA level	ORPHA:1600
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Ataxia, Skin rash, Confusion, Cachexia	ORPHA:220295
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Decreased circulating total IgM, Decreased circulating IgA level	ORPHA:369837
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
3-Methylglutaconic Aciduria, Type Viii	Neutropenia	OMIM:617248
Specc1L-Related Hypertelorism Syndrome	Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, Advanced erup...	ORPHA:1519
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia	OMIM:617107
Spondylocarpotarsal Synostosis Syndrome	Failure of eruption of permanent teeth, Enamel hypoplasia, Cleft palate	OMIM:272460
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased circulating total IgM	OMIM:618162
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Rickets, Osteoporosis, Weight loss, Keratoconjunctivitis sicca, Colitis, Exocrine p...	ORPHA:309031
Norrie Disease	Diabetes mellitus, Cachexia, EEG abnormality, Self-injurious behavior, Irritability, Attention de...	ORPHA:649
Renal Nutcracker Syndrome	Orthostatic hypotension, Syncope, Tachycardia, Weight loss	ORPHA:71273
Sotos Syndrome	Abnormality of the dentition, No permanent dentition, Acute lymphoblastic leukemia, Delayed erupt...	ORPHA:821
Genitopatellar Syndrome	Delayed eruption of teeth, Micrognathia	OMIM:606170
Pallister-Killian Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Tented upper lip vermilion, Micrognathia, Al...	OMIM:601803
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, ...	ORPHA:3472
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Decreased circulating total IgM, Severe B lymphocytopenia, B lymphocytopenia	ORPHA:83617
Floating-Harbor Syndrome	Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Wide mouth, Oligodontia, ...	ORPHA:2044
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta...	OMIM:182250
Goodpasture Syndrome	Anti-glomerular basement membrane-antibody positivity, Cyanosis, Glomerulonephritis, Cytoplasmic ...	OMIM:233450
Restrictive Dermopathy 1	Natal tooth, Micrognathia, Submucous cleft hard palate, Temporomandibular joint ankylosis, Narrow...	OMIM:275210
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Thin upper lip vermilion, Abnormality of the dentition, Downturned corners of mouth,...	ORPHA:3455
Restrictive Dermopathy	Natal tooth, Micrognathia, Submucous cleft hard palate, Temporomandibular joint ankylosis, Narrow...	ORPHA:1662
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Pallister-Hall Syndrome	Microretrognathia, Natal tooth, Accessory oral frenulum, Cleft lip, Cleft palate, Microglossia, B...	ORPHA:672
Viss Syndrome	Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci...	OMIM:619472

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 Il1r1

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 Il1r1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Intestinal Permeability and IgA Provoke Immune Vasculitis Linked to Cardiovascular Inflammation.	Immunity (August 2019)	Il1r1^{tm1c(EUCOMM)Hmgu} Il1r1^{tm1a(EUCOMM)Hmgu}	31471109

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Il1r1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Il1r1^{em1(IMPC)Ccpcz}	Intra-exon deletion	Mice
Il1r1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Il1r1 MGI:96545

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Human diseases caused by Il1r1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data